id	id2	medgen_label	original_disease	property	mondo_id	mondolink	nando_id
C0002736	MedGen UID:274	Amyotrophic lateral sclerosis	http://www.ncbi.nlm.nih.gov/medgen/274	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004976	http://purl.obolibrary.org/obo/MONDO_0004976	NANDO:1200002
C0007222	MedGen UID:2848	Disorder of cardiovascular system	http://www.ncbi.nlm.nih.gov/medgen/2848	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004995	http://purl.obolibrary.org/obo/MONDO_0004995	NANDO:1100005
C0007758	MedGen UID:849	Cerebellar ataxia	http://www.ncbi.nlm.nih.gov/medgen/849	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000437	http://purl.obolibrary.org/obo/MONDO_0000437	NANDO:1200037
C0023521	MedGen UID:44131	Galactosylceramide beta-galactosidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/44131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	NANDO:1200074
C0024408	MedGen UID:9841	Azorean disease	http://www.ncbi.nlm.nih.gov/medgen/9841	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007182	http://purl.obolibrary.org/obo/MONDO_0007182	NANDO:1200041
C0025517	MedGen UID:44376	Metabolic disease	http://www.ncbi.nlm.nih.gov/medgen/44376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005066	http://purl.obolibrary.org/obo/MONDO_0005066	NANDO:1100002
C0026769	MedGen UID:10123	Multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/10123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005301	http://purl.obolibrary.org/obo/MONDO_0005301	NANDO:1200023
C0026847	MedGen UID:7755	Spinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/7755	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	NANDO:1200003
C0030567	MedGen UID:10590	Parkinson disease	http://www.ncbi.nlm.nih.gov/medgen/10590	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005180	http://purl.obolibrary.org/obo/MONDO_0005180	NANDO:1200010
C0268250	MedGen UID:78652	Gaucher disease type II	http://www.ncbi.nlm.nih.gov/medgen/78652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	NANDO:1200058
C0268251	MedGen UID:78653	Gaucher disease type III	http://www.ncbi.nlm.nih.gov/medgen/78653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	NANDO:1200059
C0268271	MedGen UID:75665	Infantile GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/75665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	NANDO:1200067
C0268272	MedGen UID:120625	GM1 gangliosidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/120625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	NANDO:1200068
C0268273	MedGen UID:78655	GM1 gangliosidosis type 3	http://www.ncbi.nlm.nih.gov/medgen/78655	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	NANDO:1200069
C0393571	MedGen UID:98276	Multiple system atrophy	http://www.ncbi.nlm.nih.gov/medgen/98276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007803	http://purl.obolibrary.org/obo/MONDO_0007803	NANDO:1200034
C0393576	MedGen UID:98277	Chorea-acanthocytosis	http://www.ncbi.nlm.nih.gov/medgen/98277	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008695	http://purl.obolibrary.org/obo/MONDO_0008695	NANDO:1200014
C0393819	MedGen UID:98292	Chronic inflammatory demyelinating polyradiculoneuropathy	http://www.ncbi.nlm.nih.gov/medgen/98292	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006702	http://purl.obolibrary.org/obo/MONDO_0006702	NANDO:1200030
C1859598	MedGen UID:395301	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	http://www.ncbi.nlm.nih.gov/medgen/395301	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008842	http://purl.obolibrary.org/obo/MONDO_0008842	NANDO:1200051
C1861736	MedGen UID:348439	Spinocerebellar ataxia type 31	http://www.ncbi.nlm.nih.gov/medgen/348439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007296	http://purl.obolibrary.org/obo/MONDO_0007296	NANDO:1200044
C4083008	MedGen UID:901636	Guillain-Barre syndrome, familial	http://www.ncbi.nlm.nih.gov/medgen/901636	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007691	http://purl.obolibrary.org/obo/MONDO_0007691	NANDO:1200030
C0085078	MedGen UID:43098	Lysosomal storage disease	http://www.ncbi.nlm.nih.gov/medgen/43098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002561	http://purl.obolibrary.org/obo/MONDO_0002561	NANDO:1200055
C0035204	MedGen UID:48421	Respiratory system disorder	http://www.ncbi.nlm.nih.gov/medgen/48421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005087	http://purl.obolibrary.org/obo/MONDO_0005087	NANDO:1100010
C1961835	MedGen UID:409531	Gaucher disease type I	http://www.ncbi.nlm.nih.gov/medgen/409531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	NANDO:1200057
C0014130	MedGen UID:4043	Disorder of endocrine system	http://www.ncbi.nlm.nih.gov/medgen/4043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005151	http://purl.obolibrary.org/obo/MONDO_0005151	NANDO:1100009
C0018939	MedGen UID:5483	Hematologic disorder	http://www.ncbi.nlm.nih.gov/medgen/5483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005570	http://purl.obolibrary.org/obo/MONDO_0005570	NANDO:1100006
C0020179	MedGen UID:5654	Huntington disease	http://www.ncbi.nlm.nih.gov/medgen/5654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007739	http://purl.obolibrary.org/obo/MONDO_0007739	NANDO:1200012
C0021053	MedGen UID:5759	Immune system disorder	http://www.ncbi.nlm.nih.gov/medgen/5759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005046	http://purl.obolibrary.org/obo/MONDO_0005046	NANDO:1100004
C0238190	MedGen UID:68659	Inclusion body myositis	http://www.ncbi.nlm.nih.gov/medgen/68659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	NANDO:1200032
C0751781	MedGen UID:155630	Dentatorubral-pallidoluysian atrophy	http://www.ncbi.nlm.nih.gov/medgen/155630	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007435	http://purl.obolibrary.org/obo/MONDO_0007435	NANDO:1200043
C0751964	MedGen UID:155968	Primary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000451	http://purl.obolibrary.org/obo/MONDO_0000451	NANDO:1200025
C0751965	MedGen UID:155969	Secondary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000450	http://purl.obolibrary.org/obo/MONDO_0000450	NANDO:1200026
C0751967	MedGen UID:155669	Relapsing remitting multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155669	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005314	http://purl.obolibrary.org/obo/MONDO_0005314	NANDO:1200024
C0752120	MedGen UID:155703	Spinocerebellar ataxia type 1	http://www.ncbi.nlm.nih.gov/medgen/155703	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008119	http://purl.obolibrary.org/obo/MONDO_0008119	NANDO:1200045
C0752121	MedGen UID:155704	Spinocerebellar ataxia type 2	http://www.ncbi.nlm.nih.gov/medgen/155704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008458	http://purl.obolibrary.org/obo/MONDO_0008458	NANDO:1200046
C0752124	MedGen UID:148458	Spinocerebellar ataxia type 6	http://www.ncbi.nlm.nih.gov/medgen/148458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008457	http://purl.obolibrary.org/obo/MONDO_0008457	NANDO:1200042
C4023588	MedGen UID:892790	Abnormality of the gastrointestinal tract	http://www.ncbi.nlm.nih.gov/medgen/892790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004335	http://purl.obolibrary.org/obo/MONDO_0004335	NANDO:1100013
C1848533	MedGen UID:341248	Familial isolated deficiency of vitamin E	http://www.ncbi.nlm.nih.gov/medgen/341248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010188	http://purl.obolibrary.org/obo/MONDO_0010188	NANDO:1200050
C0004712	MedGen UID:498	Balo concentric sclerosis	http://www.ncbi.nlm.nih.gov/medgen/498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016430	http://purl.obolibrary.org/obo/MONDO_0016430	NANDO:1200028
C0007959	MedGen UID:2980	Charcot-Marie-Tooth disease	http://www.ncbi.nlm.nih.gov/medgen/2980	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	NANDO:1200016
C0008626	MedGen UID:3441	Congenital chromosomal disease	http://www.ncbi.nlm.nih.gov/medgen/3441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019040	http://purl.obolibrary.org/obo/MONDO_0019040	NANDO:1100014
C0220756	MedGen UID:67399	Niemann-Pick disease, type C	http://www.ncbi.nlm.nih.gov/medgen/67399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018982	http://purl.obolibrary.org/obo/MONDO_0018982	NANDO:1200063
C5848259	MedGen UID:1845578	Werdnig-Hoffmann disease	http://www.ncbi.nlm.nih.gov/medgen/1845578	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	NANDO:1200004
C0023522	MedGen UID:6071	Metachromatic leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6071	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018868	http://purl.obolibrary.org/obo/MONDO_0018868	NANDO:1200078
C0026896	MedGen UID:7764	Myasthenia gravis	http://www.ncbi.nlm.nih.gov/medgen/7764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	NANDO:1200020
C0027868	MedGen UID:10323	Neuromuscular disease	http://www.ncbi.nlm.nih.gov/medgen/10323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019056	http://purl.obolibrary.org/obo/MONDO_0019056	NANDO:1100001
C0027873	MedGen UID:45063	Neuromyelitis optica	http://www.ncbi.nlm.nih.gov/medgen/45063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019100	http://purl.obolibrary.org/obo/MONDO_0019100	NANDO:1200027
C0268242	MedGen UID:78650	Niemann-Pick disease, type A	http://www.ncbi.nlm.nih.gov/medgen/78650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	NANDO:1200061
C0268243	MedGen UID:78651	Niemann-Pick disease, type B	http://www.ncbi.nlm.nih.gov/medgen/78651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	NANDO:1200062
C0268252	MedGen UID:120623	Adult Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/120623	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016091	http://purl.obolibrary.org/obo/MONDO_0016091	NANDO:1200077
C0268274	MedGen UID:78656	GM2 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/78656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017720	http://purl.obolibrary.org/obo/MONDO_0017720	NANDO:1200070
C0268275	MedGen UID:78657	Tay-Sachs disease, variant AB	http://www.ncbi.nlm.nih.gov/medgen/78657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	NANDO:1200073
C0270914	MedGen UID:124378	Charcot-Marie-Tooth disease type 2	http://www.ncbi.nlm.nih.gov/medgen/124378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018993	http://purl.obolibrary.org/obo/MONDO_0018993	NANDO:1200018
C0393538	MedGen UID:95975	Spinal muscular atrophy, type II	http://www.ncbi.nlm.nih.gov/medgen/95975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	NANDO:1200005
C0393547	MedGen UID:95977	Bulbospinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/95977	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016113	http://purl.obolibrary.org/obo/MONDO_0016113	NANDO:1200001
C0393555	MedGen UID:581445	Pure hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/581445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015149	http://purl.obolibrary.org/obo/MONDO_0015149	NANDO:1200053
C0393556	MedGen UID:581446	Complex hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/581446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015150	http://purl.obolibrary.org/obo/MONDO_0015150	NANDO:1200054
C0393570	MedGen UID:95979	Corticobasal degeneration disorder	http://www.ncbi.nlm.nih.gov/medgen/95979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022308	http://purl.obolibrary.org/obo/MONDO_0022308	NANDO:1200011
C0393847	MedGen UID:581615	Multifocal motor neuropathy	http://www.ncbi.nlm.nih.gov/medgen/581615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018979	http://purl.obolibrary.org/obo/MONDO_0018979	NANDO:1200031
C0398568	MedGen UID:140765	McLeod neuroacanthocytosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/140765	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018945	http://purl.obolibrary.org/obo/MONDO_0018945	NANDO:1200015
C3472711	MedGen UID:483339	Spinocerebellar ataxia type 36	http://www.ncbi.nlm.nih.gov/medgen/483339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013594	http://purl.obolibrary.org/obo/MONDO_0013594	NANDO:1200048
C0085131	MedGen UID:43107	GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/43107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018149	http://purl.obolibrary.org/obo/MONDO_0018149	NANDO:1200066
C0085404	MedGen UID:39276	POEMS syndrome	http://www.ncbi.nlm.nih.gov/medgen/39276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017364	http://purl.obolibrary.org/obo/MONDO_0017364	NANDO:1200033
C0152109	MedGen UID:101816	Kugelberg-Welander disease	http://www.ncbi.nlm.nih.gov/medgen/101816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	NANDO:1200006
C0154682	MedGen UID:57591	Primary lateral sclerosis	http://www.ncbi.nlm.nih.gov/medgen/57591	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018155	http://purl.obolibrary.org/obo/MONDO_0018155	NANDO:1200008
C0751036	MedGen UID:155486	Charcot-Marie-Tooth disease, type I	http://www.ncbi.nlm.nih.gov/medgen/155486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019011	http://purl.obolibrary.org/obo/MONDO_0019011	NANDO:1200017
C1838230	MedGen UID:325364	Spinal muscular atrophy, type IV	http://www.ncbi.nlm.nih.gov/medgen/325364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	NANDO:1200007
C1839259	MedGen UID:333282	Kennedy disease	http://www.ncbi.nlm.nih.gov/medgen/333282	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010735	http://purl.obolibrary.org/obo/MONDO_0010735	NANDO:1200001
C5554234	MedGen UID:1843304	Multiple system atrophy, cerebellar type	http://www.ncbi.nlm.nih.gov/medgen/1843304	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016418	http://purl.obolibrary.org/obo/MONDO_0016418	NANDO:1200035
C5554235	MedGen UID:1842393	Multiple system atrophy, parkinsonian type	http://www.ncbi.nlm.nih.gov/medgen/1842393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020352	http://purl.obolibrary.org/obo/MONDO_0020352	NANDO:1200036
C0036161	MedGen UID:11313	Sandhoff disease	http://www.ncbi.nlm.nih.gov/medgen/11313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	NANDO:1200072
C0037773	MedGen UID:20844	Hereditary spastic paraplegia	http://www.ncbi.nlm.nih.gov/medgen/20844	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019064	http://purl.obolibrary.org/obo/MONDO_0019064	NANDO:1200052
C0038868	MedGen UID:21026	Progressive supranuclear palsy	http://www.ncbi.nlm.nih.gov/medgen/21026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019037	http://purl.obolibrary.org/obo/MONDO_0019037	NANDO:1200009
C0039373	MedGen UID:11713	Tay-Sachs disease	http://www.ncbi.nlm.nih.gov/medgen/11713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	NANDO:1200071
C0017205	MedGen UID:42164	Gaucher disease	http://www.ncbi.nlm.nih.gov/medgen/42164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018150	http://purl.obolibrary.org/obo/MONDO_0018150	NANDO:1200056
C0751273	MedGen UID:148270	Infantile Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/148270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016089	http://purl.obolibrary.org/obo/MONDO_0016089	NANDO:1200075
C0751276	MedGen UID:155528	Metachromatic leukodystrophy, juvenile type	http://www.ncbi.nlm.nih.gov/medgen/155528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	NANDO:1200080
C0751278	MedGen UID:155529	Metachromatic leukodystrophy, late infantile form	http://www.ncbi.nlm.nih.gov/medgen/155529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017729	http://purl.obolibrary.org/obo/MONDO_0017729	NANDO:1200079
C0751279	MedGen UID:199625	Metachromatic leukodystrophy, adult type	http://www.ncbi.nlm.nih.gov/medgen/199625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017730	http://purl.obolibrary.org/obo/MONDO_0017730	NANDO:1200081
C0751882	MedGen UID:155650	Congenital myasthenic syndrome	http://www.ncbi.nlm.nih.gov/medgen/155650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018940	http://purl.obolibrary.org/obo/MONDO_0018940	NANDO:1200021
C5680108	MedGen UID:1826149	Charcot-Marie-Tooth disease, intermediate type	http://www.ncbi.nlm.nih.gov/medgen/1826149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018778	http://purl.obolibrary.org/obo/MONDO_0018778	NANDO:1200019
C5680869	MedGen UID:1826101	Niemann-Pick disease type C, adult neurologic onset	http://www.ncbi.nlm.nih.gov/medgen/1826101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016310	http://purl.obolibrary.org/obo/MONDO_0016310	NANDO:1200065
CN294033	MedGen UID:976451	Neuroacanthocytosis	http://www.ncbi.nlm.nih.gov/medgen/976451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016987	http://purl.obolibrary.org/obo/MONDO_0016987	NANDO:1200013
C0162674	MedGen UID:102439	Progressive external ophthalmoplegia	http://www.ncbi.nlm.nih.gov/medgen/102439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005181	http://purl.obolibrary.org/obo/MONDO_0005181	NANDO:1200174
C2673377	MedGen UID:435914	Mucolipidosis type II	http://www.ncbi.nlm.nih.gov/medgen/435914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	NANDO:1200124
C0024748	MedGen UID:7467	Deficiency of alpha-mannosidase	http://www.ncbi.nlm.nih.gov/medgen/7467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009561	http://purl.obolibrary.org/obo/MONDO_0009561	NANDO:1200126
C0268225	MedGen UID:78649	Aspartylglucosaminuria	http://www.ncbi.nlm.nih.gov/medgen/78649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	NANDO:1200133
C0268255	MedGen UID:78654	Farber lipogranulomatosis	http://www.ncbi.nlm.nih.gov/medgen/78654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	NANDO:1200086
C0268262	MedGen UID:120624	Sphingolipid activator protein 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/120624	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009590	http://purl.obolibrary.org/obo/MONDO_0009590	NANDO:1200082
C0268626	MedGen UID:75701	Juvenile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/75701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	NANDO:1200163
C0086647	MedGen UID:39264	Mucopolysaccharidosis, MPS-III-A	http://www.ncbi.nlm.nih.gov/medgen/39264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	NANDO:1200101
C0086648	MedGen UID:88601	Mucopolysaccharidosis, MPS-III-B	http://www.ncbi.nlm.nih.gov/medgen/88601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	NANDO:1200102
C0086649	MedGen UID:39477	Mucopolysaccharidosis, MPS-III-C	http://www.ncbi.nlm.nih.gov/medgen/39477	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	NANDO:1200103
C0086650	MedGen UID:88602	Mucopolysaccharidosis, MPS-III-D	http://www.ncbi.nlm.nih.gov/medgen/88602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	NANDO:1200104
C0086651	MedGen UID:43375	Mucopolysaccharidosis, MPS-IV-A	http://www.ncbi.nlm.nih.gov/medgen/43375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	NANDO:1200106
C0086652	MedGen UID:43376	Mucopolysaccharidosis, MPS-IV-B	http://www.ncbi.nlm.nih.gov/medgen/43376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	NANDO:1200107
C1876161	MedGen UID:406281	Neuronal ceroid lipofuscinosis 2	http://www.ncbi.nlm.nih.gov/medgen/406281	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	NANDO:1200153
C2931013	MedGen UID:419313	Ocular cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	NANDO:1200164
C0016788	MedGen UID:5288	Fucosidosis	http://www.ncbi.nlm.nih.gov/medgen/5288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	NANDO:1200130
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:1200138
C1456275	MedGen UID:1778113	Inborn mitochondrial metabolism disorder	http://www.ncbi.nlm.nih.gov/medgen/1778113	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004069	http://purl.obolibrary.org/obo/MONDO_0004069	NANDO:1200173
C4048196	MedGen UID:888408	Beta-D-mannosidosis	http://www.ncbi.nlm.nih.gov/medgen/888408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	NANDO:1200129
C1850451	MedGen UID:340540	Neuronal ceroid lipofuscinosis 1	http://www.ncbi.nlm.nih.gov/medgen/340540	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	NANDO:1200152
C0002986	MedGen UID:8083	Fabry disease	http://www.ncbi.nlm.nih.gov/medgen/8083	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	NANDO:1200157
C0008384	MedGen UID:40266	Cholesteryl ester storage disease	http://www.ncbi.nlm.nih.gov/medgen/40266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	NANDO:1200144
C0162309	MedGen UID:57667	Adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/57667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	NANDO:1200165
C0162671	MedGen UID:56485	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	http://www.ncbi.nlm.nih.gov/medgen/56485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	NANDO:1200176
C0162672	MedGen UID:56486	MERRF syndrome	http://www.ncbi.nlm.nih.gov/medgen/56486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	NANDO:1200177
C2026514	MedGen UID:1708324	X-linked cerebral adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1708324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010247	http://purl.obolibrary.org/obo/MONDO_0010247	NANDO:1200166
C2931251	MedGen UID:419756	Alpha-mannosidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/419756	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0022424	http://purl.obolibrary.org/obo/MONDO_0022424	NANDO:1200127
C2931872	MedGen UID:419512	Free sialic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/419512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019366	http://purl.obolibrary.org/obo/MONDO_0019366	NANDO:1200146
C5848084	MedGen UID:1845666	Alpha-N-acetylgalactosaminidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1845666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017779	http://purl.obolibrary.org/obo/MONDO_0017779	NANDO:1200134
C0022797	MedGen UID:7230	Adult neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/7230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019260	http://purl.obolibrary.org/obo/MONDO_0019260	NANDO:1200155
C0023264	MedGen UID:44095	Leigh syndrome	http://www.ncbi.nlm.nih.gov/medgen/44095	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	NANDO:1200175
C0023806	MedGen UID:44174	Sialidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44174	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019346	http://purl.obolibrary.org/obo/MONDO_0019346	NANDO:1200117
C0026705	MedGen UID:7734	Mucopolysaccharidosis, MPS-II	http://www.ncbi.nlm.nih.gov/medgen/7734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	NANDO:1200097
C0026706	MedGen UID:6452	Sanfilippo syndrome	http://www.ncbi.nlm.nih.gov/medgen/6452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018937	http://purl.obolibrary.org/obo/MONDO_0018937	NANDO:1200100
C0026707	MedGen UID:44513	Morquio syndrome	http://www.ncbi.nlm.nih.gov/medgen/44513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018938	http://purl.obolibrary.org/obo/MONDO_0018938	NANDO:1200105
C0026708	MedGen UID:6453	Mucopolysaccharidosis, MPS-I-S	http://www.ncbi.nlm.nih.gov/medgen/6453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	NANDO:1200095
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200108
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200109
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:1200110
C0027877	MedGen UID:10326	Neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/10326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	NANDO:1200150
C0268226	MedGen UID:120621	Sialidosis	http://www.ncbi.nlm.nih.gov/medgen/120621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017734	http://purl.obolibrary.org/obo/MONDO_0017734	NANDO:1200116
C0268233	MedGen UID:82779	Combined deficiency of sialidase AND beta galactosidase	http://www.ncbi.nlm.nih.gov/medgen/82779	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	NANDO:1200119
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:1200083
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:1200084
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:1200085
C0268281	MedGen UID:75666	Infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/75666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019261	http://purl.obolibrary.org/obo/MONDO_0019261	NANDO:1200152
C1096902	MedGen UID:203367	Sialic acid storage disease, severe infantile type	http://www.ncbi.nlm.nih.gov/medgen/203367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	NANDO:1200147
C3537440	MedGen UID:760976	Infantile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/760976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018467	http://purl.obolibrary.org/obo/MONDO_0018467	NANDO:1200162
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:1200118
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:1200120
C0085132	MedGen UID:43108	Mucopolysaccharidosis type 7	http://www.ncbi.nlm.nih.gov/medgen/43108	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	NANDO:1200111
C0086431	MedGen UID:88566	Mucopolysaccharidosis, MPS-I-H/S	http://www.ncbi.nlm.nih.gov/medgen/88566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	NANDO:1200096
C0086795	MedGen UID:39698	Hurler syndrome	http://www.ncbi.nlm.nih.gov/medgen/39698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	NANDO:1200094
C0342841	MedGen UID:575246	Mucopolysaccharidosis type 2, severe form	http://www.ncbi.nlm.nih.gov/medgen/575246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016315	http://purl.obolibrary.org/obo/MONDO_0016315	NANDO:1200098
C1836522	MedGen UID:324539	Alpha-N-acetylgalactosaminidase deficiency type 2	http://www.ncbi.nlm.nih.gov/medgen/324539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012222	http://purl.obolibrary.org/obo/MONDO_0012222	NANDO:1200136
C1836544	MedGen UID:373113	Alpha-N-acetylgalactosaminidase deficiency type 1	http://www.ncbi.nlm.nih.gov/medgen/373113	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012221	http://purl.obolibrary.org/obo/MONDO_0012221	NANDO:1200135
C1838979	MedGen UID:374101	Mitochondrial complex I deficiency	http://www.ncbi.nlm.nih.gov/medgen/374101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100133	http://purl.obolibrary.org/obo/MONDO_0100133	NANDO:1200180
C3888924	MedGen UID:923868	Glycogen storage disease due to acid maltase deficiency, infantile onset	http://www.ncbi.nlm.nih.gov/medgen/923868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	NANDO:1200139
C0033788	MedGen UID:10988	Pseudo-Hurler polydystrophy	http://www.ncbi.nlm.nih.gov/medgen/10988	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	NANDO:1200125
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:1200142
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:1200143
C2931187	MedGen UID:419735	Nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	NANDO:1200162
C4316899	MedGen UID:1384792	Cystinosis	http://www.ncbi.nlm.nih.gov/medgen/1384792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016239	http://purl.obolibrary.org/obo/MONDO_0016239	NANDO:1200161
C5437471	MedGen UID:1772900	Alpha-N-acetylgalactosaminidase deficiency type 3	http://www.ncbi.nlm.nih.gov/medgen/1772900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019264	http://purl.obolibrary.org/obo/MONDO_0019264	NANDO:1200137
C0022340	MedGen UID:9589	Late-infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/9589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015674	http://purl.obolibrary.org/obo/MONDO_0015674	NANDO:1200153
C0751651	MedGen UID:155901	Mitochondrial disease	http://www.ncbi.nlm.nih.gov/medgen/155901	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044970	http://purl.obolibrary.org/obo/MONDO_0044970	NANDO:1200173
C1291490	MedGen UID:226942	Deficiency of hyaluronoglucosaminidase	http://www.ncbi.nlm.nih.gov/medgen/226942	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011093	http://purl.obolibrary.org/obo/MONDO_0011093	NANDO:1200115
C1527231	MedGen UID:315918	Adrenomyeloneuropathy	http://www.ncbi.nlm.nih.gov/medgen/315918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015339	http://purl.obolibrary.org/obo/MONDO_0015339	NANDO:1200168
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:1200099
C5679974	MedGen UID:1843432	Alpha-mannosidosis, adult form	http://www.ncbi.nlm.nih.gov/medgen/1843432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017733	http://purl.obolibrary.org/obo/MONDO_0017733	NANDO:1200128
C5681076	MedGen UID:1843217	Intermediate severe Salla disease	http://www.ncbi.nlm.nih.gov/medgen/1843217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017737	http://purl.obolibrary.org/obo/MONDO_0017737	NANDO:1200148
CN257533	MedGen UID:940569	Mitochondrial complex I deficiency, nuclear type 1	http://www.ncbi.nlm.nih.gov/medgen/940569	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100224	http://purl.obolibrary.org/obo/MONDO_0100224	NANDO:1200180
CN293564	MedGen UID:978346	Juvenile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/978346	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019262	http://purl.obolibrary.org/obo/MONDO_0019262	NANDO:1200154
C1834014	MedGen UID:320250	Oculopharyngodistal myopathy	http://www.ncbi.nlm.nih.gov/medgen/320250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0025193	http://purl.obolibrary.org/obo/MONDO_0025193	NANDO:1200219
C1834674	MedGen UID:331805	Bethlem myopathy	http://www.ncbi.nlm.nih.gov/medgen/331805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008029	http://purl.obolibrary.org/obo/MONDO_0008029	NANDO:1200220
C1852467	MedGen UID:377682	Creutzfeldt-Jakob disease, sporadic	http://www.ncbi.nlm.nih.gov/medgen/377682	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016079	http://purl.obolibrary.org/obo/MONDO_0016079	NANDO:1200187
C1853926	MedGen UID:381298	GNE myopathy	http://www.ncbi.nlm.nih.gov/medgen/381298	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011603	http://purl.obolibrary.org/obo/MONDO_0011603	NANDO:1200218
C0003509	MedGen UID:8154	Aortitis	http://www.ncbi.nlm.nih.gov/medgen/8154	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006656	http://purl.obolibrary.org/obo/MONDO_0006656	NANDO:1200251
C0008728	MedGen UID:3088	Eosinophilic granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/3088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015943	http://purl.obolibrary.org/obo/MONDO_0015943	NANDO:1200264
C0162534	MedGen UID:56445	Prion disease	http://www.ncbi.nlm.nih.gov/medgen/56445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005429	http://purl.obolibrary.org/obo/MONDO_0005429	NANDO:1200186
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200225
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200226
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:1200227
C0206042	MedGen UID:104768	Fatal familial insomnia	http://www.ncbi.nlm.nih.gov/medgen/104768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010808	http://purl.obolibrary.org/obo/MONDO_0010808	NANDO:1200191
C0206245	MedGen UID:104815	Familial amyloid neuropathy	http://www.ncbi.nlm.nih.gov/medgen/104815	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	NANDO:1200214
C0406557	MedGen UID:96060	Kindler syndrome	http://www.ncbi.nlm.nih.gov/medgen/96060	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008260	http://purl.obolibrary.org/obo/MONDO_0008260	NANDO:1200239
C0409980	MedGen UID:592740	Primary antiphospholipid syndrome	http://www.ncbi.nlm.nih.gov/medgen/592740	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005204	http://purl.obolibrary.org/obo/MONDO_0005204	NANDO:1200267
C0410179	MedGen UID:98046	Ullrich congenital muscular dystrophy 1A	http://www.ncbi.nlm.nih.gov/medgen/98046	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009681	http://purl.obolibrary.org/obo/MONDO_0009681	NANDO:1200215
C2347126	MedGen UID:389393	Microscopic polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/389393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019124	http://purl.obolibrary.org/obo/MONDO_0019124	NANDO:1200262
C2349757	MedGen UID:908476	Iatrogenic Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/908476	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0034976	http://purl.obolibrary.org/obo/MONDO_0034976	NANDO:1200193
C5231388	MedGen UID:1684682	Oculopharyngodistal myopathy 1	http://www.ncbi.nlm.nih.gov/medgen/1684682	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020793	http://purl.obolibrary.org/obo/MONDO_0020793	NANDO:1200219
C0023524	MedGen UID:7327	Progressive multifocal leukoencephalopathy	http://www.ncbi.nlm.nih.gov/medgen/7327	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016318	http://purl.obolibrary.org/obo/MONDO_0016318	NANDO:1200205
C0024141	MedGen UID:6146	Systemic lupus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/6146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	NANDO:1200272
C0026654	MedGen UID:7726	Moyamoya disease	http://www.ncbi.nlm.nih.gov/medgen/7726	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	NANDO:1200183
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:1200226
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:1200225
C0027832	MedGen UID:18014	Neurofibromatosis, type 2	http://www.ncbi.nlm.nih.gov/medgen/18014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007039	http://purl.obolibrary.org/obo/MONDO_0007039	NANDO:1200227
C0030481	MedGen UID:18298	HTLV-1-associated myelopathy-tropical spastic paraparesis	http://www.ncbi.nlm.nih.gov/medgen/18298	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008039	http://purl.obolibrary.org/obo/MONDO_0008039	NANDO:1200206
C0030807	MedGen UID:45369	Pemphigus	http://www.ncbi.nlm.nih.gov/medgen/45369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006594	http://purl.obolibrary.org/obo/MONDO_0006594	NANDO:1200228
C0030809	MedGen UID:10621	Pemphigus vulgaris	http://www.ncbi.nlm.nih.gov/medgen/10621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008219	http://purl.obolibrary.org/obo/MONDO_0008219	NANDO:1200229
C0031036	MedGen UID:14681	Polyarteritis nodosa	http://www.ncbi.nlm.nih.gov/medgen/14681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019170	http://purl.obolibrary.org/obo/MONDO_0019170	NANDO:1200261
C0268381	MedGen UID:75674	AL amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/75674	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019438	http://purl.obolibrary.org/obo/MONDO_0019438	NANDO:1200211
C0376329	MedGen UID:138163	Variant Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/138163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007012	http://purl.obolibrary.org/obo/MONDO_0007012	NANDO:1200194
C0392439	MedGen UID:581114	Acrodermatitis continua suppurativa of Hallopeau	http://www.ncbi.nlm.nih.gov/medgen/581114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	NANDO:1200244
C1112570	MedGen UID:798302	Paraneoplastic pemphigus	http://www.ncbi.nlm.nih.gov/medgen/798302	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018974	http://purl.obolibrary.org/obo/MONDO_0018974	NANDO:1200231
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:1200263
C3662487	MedGen UID:783641	Catastrophic antiphospholipid syndrome	http://www.ncbi.nlm.nih.gov/medgen/783641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018737	http://purl.obolibrary.org/obo/MONDO_0018737	NANDO:1200270
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:1200235
C0079301	MedGen UID:86898	Junctional epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/86898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	NANDO:1200236
C0079474	MedGen UID:36311	Recessive dystrophic epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/36311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	NANDO:1200238
C0152081	MedGen UID:508876	Pustular psoriasis	http://www.ncbi.nlm.nih.gov/medgen/508876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022205	http://purl.obolibrary.org/obo/MONDO_0022205	NANDO:1200240
C0342623	MedGen UID:87446	Wild type ATTR amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/87446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018018	http://purl.obolibrary.org/obo/MONDO_0018018	NANDO:1200212
C1839615	MedGen UID:374264	X-linked myopathy with excessive autophagy	http://www.ncbi.nlm.nih.gov/medgen/374264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010684	http://purl.obolibrary.org/obo/MONDO_0010684	NANDO:1200223
C4551624	MedGen UID:1637664	Idiopathic basal ganglia calcification 1	http://www.ncbi.nlm.nih.gov/medgen/1637664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024538	http://purl.obolibrary.org/obo/MONDO_0024538	NANDO:1200208
C4551860	MedGen UID:1642667	Ullrich congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/1642667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	NANDO:1200215
C5553104	MedGen UID:1790866	Miyoshi myopathy	http://www.ncbi.nlm.nih.gov/medgen/1790866	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009685	http://purl.obolibrary.org/obo/MONDO_0009685	NANDO:1200217
C0036391	MedGen UID:19892	Schwartz-Jampel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19892	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009717	http://purl.obolibrary.org/obo/MONDO_0009717	NANDO:1200224
C0038325	MedGen UID:20955	Stevens-Johnson syndrome	http://www.ncbi.nlm.nih.gov/medgen/20955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	NANDO:1200245
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200195
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200196
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:1200198
C0039263	MedGen UID:21458	Takayasu arteritis	http://www.ncbi.nlm.nih.gov/medgen/21458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	NANDO:1200251
C0040021	MedGen UID:21531	Thromboangiitis obliterans	http://www.ncbi.nlm.nih.gov/medgen/21531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008889	http://purl.obolibrary.org/obo/MONDO_0008889	NANDO:1200266
C0281479	MedGen UID:129028	Primary systemic amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/129028	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017816	http://purl.obolibrary.org/obo/MONDO_0017816	NANDO:1200209
C1956391	MedGen UID:365495	Temporal arteritis	http://www.ncbi.nlm.nih.gov/medgen/365495	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008538	http://purl.obolibrary.org/obo/MONDO_0008538	NANDO:1200258
C5399975	MedGen UID:1728314	Myopathy, distal, with rimmed vacuoles	http://www.ncbi.nlm.nih.gov/medgen/1728314	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014945	http://purl.obolibrary.org/obo/MONDO_0014945	NANDO:1200218
C0014518	MedGen UID:4501	Toxic epidermal necrolysis	http://www.ncbi.nlm.nih.gov/medgen/4501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019810	http://purl.obolibrary.org/obo/MONDO_0019810	NANDO:1200246
C0014527	MedGen UID:41832	Epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/41832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006541	http://purl.obolibrary.org/obo/MONDO_0006541	NANDO:1200234
C0017495	MedGen UID:4886	Gerstmann-Straussler-Scheinker syndrome	http://www.ncbi.nlm.nih.gov/medgen/4886	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007656	http://purl.obolibrary.org/obo/MONDO_0007656	NANDO:1200190
C0238190	MedGen UID:68659	Inclusion body myositis	http://www.ncbi.nlm.nih.gov/medgen/68659	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007827	http://purl.obolibrary.org/obo/MONDO_0007827	NANDO:1200218
C0240903	MedGen UID:69122	Rheumatoid vasculitis	http://www.ncbi.nlm.nih.gov/medgen/69122	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043267	http://purl.obolibrary.org/obo/MONDO_0043267	NANDO:1200265
C0263312	MedGen UID:537812	Pemphigus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/537812	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019323	http://purl.obolibrary.org/obo/MONDO_0019323	NANDO:1200233
C0263313	MedGen UID:75513	Pemphigus foliaceus	http://www.ncbi.nlm.nih.gov/medgen/75513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019324	http://purl.obolibrary.org/obo/MONDO_0019324	NANDO:1200230
C0263316	MedGen UID:537814	Pemphigus vegetans	http://www.ncbi.nlm.nih.gov/medgen/537814	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019322	http://purl.obolibrary.org/obo/MONDO_0019322	NANDO:1200232
C0751254	MedGen UID:155837	Inherited Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/155837	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007403	http://purl.obolibrary.org/obo/MONDO_0007403	NANDO:1200189
C0751336	MedGen UID:155541	Distal myopathy	http://www.ncbi.nlm.nih.gov/medgen/155541	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018949	http://purl.obolibrary.org/obo/MONDO_0018949	NANDO:1200216
C0878677	MedGen UID:209235	Danon disease	http://www.ncbi.nlm.nih.gov/medgen/209235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010281	http://purl.obolibrary.org/obo/MONDO_0010281	NANDO:1200222
C1314968	MedGen UID:727290	Impetigo herpetiformis	http://www.ncbi.nlm.nih.gov/medgen/727290	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004591	http://purl.obolibrary.org/obo/MONDO_0004591	NANDO:1200243
C5681100	MedGen UID:1826177	Acquired Creutzfeldt-Jakob disease	http://www.ncbi.nlm.nih.gov/medgen/1826177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018686	http://purl.obolibrary.org/obo/MONDO_0018686	NANDO:1200192
CN263207	MedGen UID:946235	Bilateral striopallidodentate calcinosis	http://www.ncbi.nlm.nih.gov/medgen/946235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008947	http://purl.obolibrary.org/obo/MONDO_0008947	NANDO:1200207
C1852700	MedGen UID:343867	C1 inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/343867	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	NANDO:1200365
C0004135	MedGen UID:439	Ataxia-telangiectasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	NANDO:1200331
C0004943	MedGen UID:2568	Behcet disease	http://www.ncbi.nlm.nih.gov/medgen/2568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	NANDO:1200284
C0005859	MedGen UID:2685	Bloom syndrome	http://www.ncbi.nlm.nih.gov/medgen/2685	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	NANDO:1200333
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:1200286
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:1200288
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:1200292
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:1200293
C0007965	MedGen UID:3347	Chédiak-Higashi syndrome	http://www.ncbi.nlm.nih.gov/medgen/3347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	NANDO:1200350
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:1200339
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:1200339
C0221023	MedGen UID:65121	Cyclical neutropenia	http://www.ncbi.nlm.nih.gov/medgen/65121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	NANDO:1200354
C0221026	MedGen UID:65123	X-linked agammaglobulinemia	http://www.ncbi.nlm.nih.gov/medgen/65123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	NANDO:1200343
C2931418	MedGen UID:444051	MHC class II deficiency	http://www.ncbi.nlm.nih.gov/medgen/444051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	NANDO:1200329
C0026272	MedGen UID:10069	Mixed connective tissue disease	http://www.ncbi.nlm.nih.gov/medgen/10069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005854	http://purl.obolibrary.org/obo/MONDO_0005854	NANDO:1200278
C0398595	MedGen UID:96015	Myeloperoxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/96015	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	NANDO:1200358
C0398650	MedGen UID:584986	Autoimmune thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/584986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	NANDO:1200315
C0398686	MedGen UID:585013	Inborn error of immunity	http://www.ncbi.nlm.nih.gov/medgen/585013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003778	http://purl.obolibrary.org/obo/MONDO_0003778	NANDO:1200320
C0398788	MedGen UID:140770	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140770	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	NANDO:1200334
C0398791	MedGen UID:140771	Microcephaly, normal intelligence and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140771	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	NANDO:1200332
C0549463	MedGen UID:107498	X-linked lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/107498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010627	http://purl.obolibrary.org/obo/MONDO_0010627	NANDO:1200351
C1268935	MedGen UID:224783	Upshaw-Schulman syndrome	http://www.ncbi.nlm.nih.gov/medgen/224783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010122	http://purl.obolibrary.org/obo/MONDO_0010122	NANDO:1200317
C1279481	MedGen UID:220906	X-linked severe combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/220906	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	NANDO:1200321
C1856128	MedGen UID:344659	Hepatic veno-occlusive disease-immunodeficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/344659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	NANDO:1200341
C1858266	MedGen UID:346868	MHC class I deficiency	http://www.ncbi.nlm.nih.gov/medgen/346868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	NANDO:1200328
C1863236	MedGen UID:354935	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/354935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	NANDO:1200323
C1846006	MedGen UID:375786	Ectodermal dysplasia and immune deficiency	http://www.ncbi.nlm.nih.gov/medgen/375786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	NANDO:1200360
C5574950	MedGen UID:1802991	Netherton syndrome	http://www.ncbi.nlm.nih.gov/medgen/1802991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	NANDO:1200338
C5575025	MedGen UID:1809040	Combined immunodeficiency due to ZAP70 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1809040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	NANDO:1200327
C0036421	MedGen UID:19897	Systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/19897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005100	http://purl.obolibrary.org/obo/MONDO_0005100	NANDO:1200277
C0043194	MedGen UID:21921	Wiskott-Aldrich syndrome	http://www.ncbi.nlm.nih.gov/medgen/21921	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	NANDO:1200330
C0272167	MedGen UID:124417	Reticular dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/124417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	NANDO:1200322
C0272170	MedGen UID:124418	Shwachman syndrome	http://www.ncbi.nlm.nih.gov/medgen/124418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	NANDO:1200356
C0272236	MedGen UID:124420	Hyperimmunoglobulin M syndrome	http://www.ncbi.nlm.nih.gov/medgen/124420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	NANDO:1200345
C0272242	MedGen UID:82898	Reduced circulating complement concentration	http://www.ncbi.nlm.nih.gov/medgen/82898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003832	http://purl.obolibrary.org/obo/MONDO_0003832	NANDO:1200364
C2700553	MedGen UID:398130	Histiocytic medullary reticulosis	http://www.ncbi.nlm.nih.gov/medgen/398130	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	NANDO:1200324
C0017661	MedGen UID:9032	IgA glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9032	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005342	http://purl.obolibrary.org/obo/MONDO_0005342	NANDO:1200366
C0877024	MedGen UID:164078	Schimke immuno-osseous dysplasia	http://www.ncbi.nlm.nih.gov/medgen/164078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	NANDO:1200337
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:1200279
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:1200280
C4049006	MedGen UID:883982	Selective IgA deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/883982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001341	http://purl.obolibrary.org/obo/MONDO_0001341	NANDO:1200347
C5681331	MedGen UID:1826154	Inherited aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1826154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001713	http://purl.obolibrary.org/obo/MONDO_0001713	NANDO:1200302
C1853118	MedGen UID:343974	Severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/343974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	NANDO:1200353
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:1200295
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:1200301
C0002880	MedGen UID:1918	Autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	NANDO:1200305
C0006845	MedGen UID:2426	Chronic mucocutaneous candidiasis	http://www.ncbi.nlm.nih.gov/medgen/2426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	NANDO:1200363
C0009447	MedGen UID:40407	Common variable immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/40407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	NANDO:1200344
C0011633	MedGen UID:8331	Dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/8331	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016367	http://purl.obolibrary.org/obo/MONDO_0016367	NANDO:1200274
C0406645	MedGen UID:96065	Amyopathic dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/96065	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043317	http://purl.obolibrary.org/obo/MONDO_0043317	NANDO:1200275
C2584778	MedGen UID:391723	Acquired thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/391723	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019740	http://purl.obolibrary.org/obo/MONDO_0019740	NANDO:1200318
C2584778	MedGen UID:391723	Acquired thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/391723	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019740	http://purl.obolibrary.org/obo/MONDO_0019740	NANDO:1200319
C2677092	MedGen UID:383023	Pyogenic bacterial infections due to MyD88 deficiency	http://www.ncbi.nlm.nih.gov/medgen/383023	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012839	http://purl.obolibrary.org/obo/MONDO_0012839	NANDO:1200362
C2677792	MedGen UID:394368	RIDDLE syndrome	http://www.ncbi.nlm.nih.gov/medgen/394368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	NANDO:1200336
C5234937	MedGen UID:1720114	Decreased circulating IgG concentration	http://www.ncbi.nlm.nih.gov/medgen/1720114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045045	http://purl.obolibrary.org/obo/MONDO_0045045	NANDO:1200346
C0265965	MedGen UID:78580	Dyskeratosis congenita	http://www.ncbi.nlm.nih.gov/medgen/78580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	NANDO:1200304
C0268125	MedGen UID:75653	Purine-nucleoside phosphorylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	NANDO:1200325
C0348890	MedGen UID:87595	Idiopathic aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/87595	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012197	http://purl.obolibrary.org/obo/MONDO_0012197	NANDO:1200296
C1264008	MedGen UID:688249	Cold agglutinin disease	http://www.ncbi.nlm.nih.gov/medgen/688249	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018922	http://purl.obolibrary.org/obo/MONDO_0018922	NANDO:1200307
C3266863	MedGen UID:473805	Inherited susceptibility to mycobacterial diseases	http://www.ncbi.nlm.nih.gov/medgen/473805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019146	http://purl.obolibrary.org/obo/MONDO_0019146	NANDO:1200359
C3808553	MedGen UID:814883	Autosomal dominant aplasia and myelodysplasia	http://www.ncbi.nlm.nih.gov/medgen/814883	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013851	http://purl.obolibrary.org/obo/MONDO_0013851	NANDO:1200301
C0085253	MedGen UID:39007	Adult-onset Still disease	http://www.ncbi.nlm.nih.gov/medgen/39007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019355	http://purl.obolibrary.org/obo/MONDO_0019355	NANDO:1200282
C0085655	MedGen UID:39086	Polymyositis	http://www.ncbi.nlm.nih.gov/medgen/39086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019127	http://purl.obolibrary.org/obo/MONDO_0019127	NANDO:1200276
C0086774	MedGen UID:39693	Paroxysmal cold hemoglobinuria	http://www.ncbi.nlm.nih.gov/medgen/39693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019533	http://purl.obolibrary.org/obo/MONDO_0019533	NANDO:1200308
C1837065	MedGen UID:323058	Susceptibility to respiratory infections associated with CD8alpha chain mutation	http://www.ncbi.nlm.nih.gov/medgen/323058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	NANDO:1200326
C1843256	MedGen UID:375137	Immunodeficiency 67	http://www.ncbi.nlm.nih.gov/medgen/375137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	NANDO:1200361
C3887645	MedGen UID:854488	Hyper-IgE syndrome	http://www.ncbi.nlm.nih.gov/medgen/854488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	NANDO:1200340
C0032453	MedGen UID:45995	Relapsing polychondritis	http://www.ncbi.nlm.nih.gov/medgen/45995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019125	http://purl.obolibrary.org/obo/MONDO_0019125	NANDO:1200283
C0034155	MedGen UID:48266	Thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/48266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018896	http://purl.obolibrary.org/obo/MONDO_0018896	NANDO:1200316
C0272118	MedGen UID:450541	Autoimmune hemolytic anemia, warm type	http://www.ncbi.nlm.nih.gov/medgen/450541	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019532	http://purl.obolibrary.org/obo/MONDO_0019532	NANDO:1200306
C0272126	MedGen UID:75773	Evans syndrome	http://www.ncbi.nlm.nih.gov/medgen/75773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016030	http://purl.obolibrary.org/obo/MONDO_0016030	NANDO:1200310
C0272187	MedGen UID:124419	Leukocyte adhesion deficiency	http://www.ncbi.nlm.nih.gov/medgen/124419	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017570	http://purl.obolibrary.org/obo/MONDO_0017570	NANDO:1200355
C0272238	MedGen UID:124421	Transient hypogammaglobulinemia of infancy	http://www.ncbi.nlm.nih.gov/medgen/124421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015698	http://purl.obolibrary.org/obo/MONDO_0015698	NANDO:1200349
C4305257	MedGen UID:930926	Mixed-type autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/930926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019534	http://purl.obolibrary.org/obo/MONDO_0019534	NANDO:1200309
C0018203	MedGen UID:5377	Chronic granulomatous disease	http://www.ncbi.nlm.nih.gov/medgen/5377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	NANDO:1200357
C0019243	MedGen UID:9229	Hereditary angioneurotic edema	http://www.ncbi.nlm.nih.gov/medgen/9229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	NANDO:1200365
C5680885	MedGen UID:1843079	Non-familial restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/1843079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016345	http://purl.obolibrary.org/obo/MONDO_0016345	NANDO:1200294
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:1200339
CN301239	MedGen UID:985772	Autoimmune lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/985772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017979	http://purl.obolibrary.org/obo/MONDO_0017979	NANDO:1200352
C1848296	MedGen UID:341190	46,XY sex reversal 2	http://www.ncbi.nlm.nih.gov/medgen/341190	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010226	http://purl.obolibrary.org/obo/MONDO_0010226	NANDO:1200404
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	NANDO:1200411
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:1200396
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:1200397
C0008312	MedGen UID:3035	Primary biliary cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3035	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005388	http://purl.obolibrary.org/obo/MONDO_0005388	NANDO:1200439
C0008313	MedGen UID:3036	Sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3036	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018646	http://purl.obolibrary.org/obo/MONDO_0018646	NANDO:1200440
C0009324	MedGen UID:3532	Ulcerative colitis	http://www.ncbi.nlm.nih.gov/medgen/3532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005101	http://purl.obolibrary.org/obo/MONDO_0005101	NANDO:1200449
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:1200444
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:1200446
C0156146	MedGen UID:57617	Small bowel Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/57617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005539	http://purl.obolibrary.org/obo/MONDO_0005539	NANDO:1200445
C0156147	MedGen UID:57618	Crohn disease of large bowel	http://www.ncbi.nlm.nih.gov/medgen/57618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005532	http://purl.obolibrary.org/obo/MONDO_0005532	NANDO:1200446
C0221406	MedGen UID:66381	Pituitary dependent hypercortisolism	http://www.ncbi.nlm.nih.gov/medgen/66381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	NANDO:1200379
C2350236	MedGen UID:389939	Idiopathic interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/389939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002429	http://purl.obolibrary.org/obo/MONDO_0002429	NANDO:1200416
C2936858	MedGen UID:424833	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/424833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	NANDO:1200399
C2940786	MedGen UID:424854	Thyroid hormone resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/424854	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001328	http://purl.obolibrary.org/obo/MONDO_0001328	NANDO:1200395
C2973725	MedGen UID:425404	Pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/425404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015924	http://purl.obolibrary.org/obo/MONDO_0015924	NANDO:1200425
C0022680	MedGen UID:9639	Polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/9639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	NANDO:1200367
C0268285	MedGen UID:82782	Deficiency of steroid 17-alpha-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	NANDO:1200401
C0268292	MedGen UID:82783	Deficiency of steroid 11-beta-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	NANDO:1200400
C0346303	MedGen UID:87550	TSH-secreting pituitary adenoma	http://www.ncbi.nlm.nih.gov/medgen/87550	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019611	http://purl.obolibrary.org/obo/MONDO_0019611	NANDO:1200377
C0949272	MedGen UID:184943	Ileocolitis	http://www.ncbi.nlm.nih.gov/medgen/184943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005534	http://purl.obolibrary.org/obo/MONDO_0005534	NANDO:1200447
C1262481	MedGen UID:220382	Eosinophilic gastroenteritis	http://www.ncbi.nlm.nih.gov/medgen/220382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016129	http://purl.obolibrary.org/obo/MONDO_0016129	NANDO:1200457
C1279945	MedGen UID:224822	Acute interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/224822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019203	http://purl.obolibrary.org/obo/MONDO_0019203	NANDO:1200420
C1860042	MedGen UID:348008	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/348008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	NANDO:1200402
C1861329	MedGen UID:396107	Spinal canal stenosis	http://www.ncbi.nlm.nih.gov/medgen/396107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005965	http://purl.obolibrary.org/obo/MONDO_0005965	NANDO:1200372
C3489793	MedGen UID:483746	46,XY sex reversal 3	http://www.ncbi.nlm.nih.gov/medgen/483746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013066	http://purl.obolibrary.org/obo/MONDO_0013066	NANDO:1200405
C3489796	MedGen UID:483749	Thyroid hormone resistance, generalized, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/483749	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010131	http://purl.obolibrary.org/obo/MONDO_0010131	NANDO:1200395
C3698354	MedGen UID:785618	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	http://www.ncbi.nlm.nih.gov/medgen/785618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018554	http://purl.obolibrary.org/obo/MONDO_0018554	NANDO:1200426
C3698354	MedGen UID:785618	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	http://www.ncbi.nlm.nih.gov/medgen/785618	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018554	http://purl.obolibrary.org/obo/MONDO_0018554	NANDO:1200428
C4275066	MedGen UID:909851	Familial avascular necrosis of the femoral head	http://www.ncbi.nlm.nih.gov/medgen/909851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012126	http://purl.obolibrary.org/obo/MONDO_0012126	NANDO:1200373
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:1200390
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:1200441
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:1200442
C0085413	MedGen UID:88404	Autosomal dominant polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/88404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004691	http://purl.obolibrary.org/obo/MONDO_0004691	NANDO:1200368
C0085548	MedGen UID:39076	Autosomal recessive polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/39076	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009889	http://purl.obolibrary.org/obo/MONDO_0009889	NANDO:1200369
C0341106	MedGen UID:83318	Eosinophilic esophagitis	http://www.ncbi.nlm.nih.gov/medgen/83318	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005361	http://purl.obolibrary.org/obo/MONDO_0005361	NANDO:1200456
C0342394	MedGen UID:574999	Neurohypophyseal diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/574999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	NANDO:1200375
C0342471	MedGen UID:452446	3 beta-Hydroxysteroid dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/452446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	NANDO:1200398
C0342482	MedGen UID:87442	Congenital adrenal hypoplasia, X-linked	http://www.ncbi.nlm.nih.gov/medgen/87442	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	NANDO:1200403
C0342543	MedGen UID:90985	Central precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/90985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	NANDO:1200381
C0342881	MedGen UID:575266	Homozygous familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/575266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018328	http://purl.obolibrary.org/obo/MONDO_0018328	NANDO:1200394
C0345240	MedGen UID:83378	Aganglionosis, total intestinal	http://www.ncbi.nlm.nih.gov/medgen/83378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008738	http://purl.obolibrary.org/obo/MONDO_0008738	NANDO:1200460
C0687720	MedGen UID:146919	Central diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/146919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015790	http://purl.obolibrary.org/obo/MONDO_0015790	NANDO:1200375
C1846009	MedGen UID:337364	IMAGe syndrome	http://www.ncbi.nlm.nih.gov/medgen/337364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013873	http://purl.obolibrary.org/obo/MONDO_0013873	NANDO:1200406
C0033375	MedGen UID:10936	Prolactin-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/10936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010911	http://purl.obolibrary.org/obo/MONDO_0010911	NANDO:1200378
C0034091	MedGen UID:18769	Pulmonary venoocclusive disease	http://www.ncbi.nlm.nih.gov/medgen/18769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009937	http://purl.obolibrary.org/obo/MONDO_0009937	NANDO:1200427
C0035334	MedGen UID:20551	Retinitis pigmentosa	http://www.ncbi.nlm.nih.gov/medgen/20551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019200	http://purl.obolibrary.org/obo/MONDO_0019200	NANDO:1200431
C0036202	MedGen UID:48554	Sarcoidosis	http://www.ncbi.nlm.nih.gov/medgen/48554	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019338	http://purl.obolibrary.org/obo/MONDO_0019338	NANDO:1200415
C0271623	MedGen UID:82883	Hypogonadotropic hypogonadism	http://www.ncbi.nlm.nih.gov/medgen/82883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	NANDO:1200388
C0271742	MedGen UID:82889	Glucocorticoid deficiency with achalasia	http://www.ncbi.nlm.nih.gov/medgen/82889	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009279	http://purl.obolibrary.org/obo/MONDO_0009279	NANDO:1200410
C0278864	MedGen UID:82999	Growth hormone-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/82999	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006238	http://purl.obolibrary.org/obo/MONDO_0006238	NANDO:1200386
C0278864	MedGen UID:82999	Growth hormone-producing pituitary gland adenoma	http://www.ncbi.nlm.nih.gov/medgen/82999	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006238	http://purl.obolibrary.org/obo/MONDO_0006238	NANDO:1200385
C1865343	MedGen UID:355447	Ossification of the posterior longitudinal ligament of the spine	http://www.ncbi.nlm.nih.gov/medgen/355447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011230	http://purl.obolibrary.org/obo/MONDO_0011230	NANDO:1200371
C2748504	MedGen UID:440560	Chronic thromboembolic pulmonary hypertension	http://www.ncbi.nlm.nih.gov/medgen/440560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013024	http://purl.obolibrary.org/obo/MONDO_0013024	NANDO:1200429
C0020635	MedGen UID:9386	Hypopituitarism	http://www.ncbi.nlm.nih.gov/medgen/9386	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005152	http://purl.obolibrary.org/obo/MONDO_0005152	NANDO:1200387
C0021141	MedGen UID:5772	Inappropriate antidiuretic hormone secretion	http://www.ncbi.nlm.nih.gov/medgen/5772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006802	http://purl.obolibrary.org/obo/MONDO_0006802	NANDO:1200376
C0238062	MedGen UID:536759	Chronic intestinal pseudoobstruction	http://www.ncbi.nlm.nih.gov/medgen/536759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017574	http://purl.obolibrary.org/obo/MONDO_0017574	NANDO:1200458
C0238378	MedGen UID:65962	Desquamative interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/65962	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	NANDO:1200422
C0238378	MedGen UID:65962	Desquamative interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/65962	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009887	http://purl.obolibrary.org/obo/MONDO_0009887	NANDO:1200423
C0242770	MedGen UID:116663	Bronchiolitis obliterans organizing pneumonia	http://www.ncbi.nlm.nih.gov/medgen/116663	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015264	http://purl.obolibrary.org/obo/MONDO_0015264	NANDO:1200421
C0264511	MedGen UID:82682	Lymphoid interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/82682	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009537	http://purl.obolibrary.org/obo/MONDO_0009537	NANDO:1200424
C0566602	MedGen UID:107565	Primary sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/107565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	NANDO:1200440
C0751674	MedGen UID:148366	Lymphangiomyomatosis	http://www.ncbi.nlm.nih.gov/medgen/148366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011705	http://purl.obolibrary.org/obo/MONDO_0011705	NANDO:1200430
C0856761	MedGen UID:163632	Budd-Chiari syndrome	http://www.ncbi.nlm.nih.gov/medgen/163632	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	NANDO:1200437
C0860168	MedGen UID:678582	Distal colitis	http://www.ncbi.nlm.nih.gov/medgen/678582	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005533	http://purl.obolibrary.org/obo/MONDO_0005533	NANDO:1200451
C0868908	MedGen UID:1720692	Pancolitis	http://www.ncbi.nlm.nih.gov/medgen/1720692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005536	http://purl.obolibrary.org/obo/MONDO_0005536	NANDO:1200450
C1290344	MedGen UID:220936	Non-specific interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/220936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019622	http://purl.obolibrary.org/obo/MONDO_0019622	NANDO:1200419
C5680014	MedGen UID:1826142	Eosinophilic gastrointestinal disease	http://www.ncbi.nlm.nih.gov/medgen/1826142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018438	http://purl.obolibrary.org/obo/MONDO_0018438	NANDO:1200454
C1832466	MedGen UID:318633	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	http://www.ncbi.nlm.nih.gov/medgen/318633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011038	http://purl.obolibrary.org/obo/MONDO_0011038	NANDO:1200526
C1832855	MedGen UID:371427	Dystonia 9	http://www.ncbi.nlm.nih.gov/medgen/371427	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010983	http://purl.obolibrary.org/obo/MONDO_0010983	NANDO:1200520
C1851920	MedGen UID:342121	Dystonia 5	http://www.ncbi.nlm.nih.gov/medgen/342121	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007495	http://purl.obolibrary.org/obo/MONDO_0007495	NANDO:1200516
C1851943	MedGen UID:342124	Torsion dystonia 4	http://www.ncbi.nlm.nih.gov/medgen/342124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007493	http://purl.obolibrary.org/obo/MONDO_0007493	NANDO:1200515
C1851945	MedGen UID:338823	Early-onset generalized limb-onset dystonia	http://www.ncbi.nlm.nih.gov/medgen/338823	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	NANDO:1200512
C0221055	MedGen UID:113142	Paramyotonia congenita of Von Eulenburg	http://www.ncbi.nlm.nih.gov/medgen/113142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	NANDO:1200501
C0409818	MedGen UID:98370	Chronic infantile neurological, cutaneous and articular syndrome	http://www.ncbi.nlm.nih.gov/medgen/98370	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	NANDO:1200468
C0410174	MedGen UID:140820	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	http://www.ncbi.nlm.nih.gov/medgen/140820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	NANDO:1200494
C1970149	MedGen UID:370188	Paroxysmal nonkinesigenic dyskinesia 2	http://www.ncbi.nlm.nih.gov/medgen/370188	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012629	http://purl.obolibrary.org/obo/MONDO_0012629	NANDO:1200533
C1970238	MedGen UID:410022	Episodic kinesigenic dyskinesia 2	http://www.ncbi.nlm.nih.gov/medgen/410022	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012603	http://purl.obolibrary.org/obo/MONDO_0012603	NANDO:1200532
C2316212	MedGen UID:412215	Cryopyrin associated periodic syndrome	http://www.ncbi.nlm.nih.gov/medgen/412215	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016168	http://purl.obolibrary.org/obo/MONDO_0016168	NANDO:1200465
C2676281	MedGen UID:391003	Torsion dystonia 17	http://www.ncbi.nlm.nih.gov/medgen/391003	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012895	http://purl.obolibrary.org/obo/MONDO_0012895	NANDO:1200530
C2677567	MedGen UID:436979	Dystonia 16	http://www.ncbi.nlm.nih.gov/medgen/436979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012789	http://purl.obolibrary.org/obo/MONDO_0012789	NANDO:1200529
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:1200474
C0024814	MedGen UID:6222	Marinesco-Sjögren syndrome	http://www.ncbi.nlm.nih.gov/medgen/6222	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009567	http://purl.obolibrary.org/obo/MONDO_0009567	NANDO:1200485
C0027126	MedGen UID:10239	Myotonic dystrophy	http://www.ncbi.nlm.nih.gov/medgen/10239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	NANDO:1200495
C0030443	MedGen UID:18291	Familial periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/18291	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000995	http://purl.obolibrary.org/obo/MONDO_0000995	NANDO:1200502
C0268390	MedGen UID:120634	Familial amyloid nephropathy with urticaria AND deafness	http://www.ncbi.nlm.nih.gov/medgen/120634	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	NANDO:1200467
C0270952	MedGen UID:75730	Oculopharyngeal muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/75730	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008116	http://purl.obolibrary.org/obo/MONDO_0008116	NANDO:1200493
C0546264	MedGen UID:108177	Congenital myopathy with fiber type disproportion	http://www.ncbi.nlm.nih.gov/medgen/108177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009711	http://purl.obolibrary.org/obo/MONDO_0009711	NANDO:1200483
C1275081	MedGen UID:266149	Cardio-facio-cutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/266149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	NANDO:1200462
C1275126	MedGen UID:226899	TNF receptor-associated periodic fever syndrome (TRAPS)	http://www.ncbi.nlm.nih.gov/medgen/226899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	NANDO:1200472
C1857093	MedGen UID:346511	Torsion dystonia 2	http://www.ncbi.nlm.nih.gov/medgen/346511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009141	http://purl.obolibrary.org/obo/MONDO_0009141	NANDO:1200513
C3280371	MedGen UID:482001	Neurodegeneration with brain iron accumulation 4	http://www.ncbi.nlm.nih.gov/medgen/482001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013674	http://purl.obolibrary.org/obo/MONDO_0013674	NANDO:1200540
C3495559	MedGen UID:760659	Juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/760659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	NANDO:1200469
C3496228	MedGen UID:501249	Hereditary spastic paraplegia 35	http://www.ncbi.nlm.nih.gov/medgen/501249	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012866	http://purl.obolibrary.org/obo/MONDO_0012866	NANDO:1200541
C5201146	MedGen UID:1684759	Blau syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	NANDO:1200476
C0338488	MedGen UID:90925	Alternating hemiplegia of childhood	http://www.ncbi.nlm.nih.gov/medgen/90925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	NANDO:1200525
C0587248	MedGen UID:108454	Costello syndrome	http://www.ncbi.nlm.nih.gov/medgen/108454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	NANDO:1200463
C1414216	MedGen UID:236274	Torsion dystonia 6	http://www.ncbi.nlm.nih.gov/medgen/236274	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011264	http://purl.obolibrary.org/obo/MONDO_0011264	NANDO:1200517
C1838577	MedGen UID:325051	CARASIL syndrome	http://www.ncbi.nlm.nih.gov/medgen/325051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010829	http://purl.obolibrary.org/obo/MONDO_0010829	NANDO:1200544
C1839130	MedGen UID:326820	X-linked dystonia-parkinsonism	http://www.ncbi.nlm.nih.gov/medgen/326820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010747	http://purl.obolibrary.org/obo/MONDO_0010747	NANDO:1200514
C1842534	MedGen UID:330866	Childhood onset GLUT1 deficiency syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/330866	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012805	http://purl.obolibrary.org/obo/MONDO_0012805	NANDO:1200531
C1843264	MedGen UID:335918	Torsion dystonia 13	http://www.ncbi.nlm.nih.gov/medgen/335918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011886	http://purl.obolibrary.org/obo/MONDO_0011886	NANDO:1200527
C1843786	MedGen UID:334492	Myoclonic dystonia 15	http://www.ncbi.nlm.nih.gov/medgen/334492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011844	http://purl.obolibrary.org/obo/MONDO_0011844	NANDO:1200528
C1865818	MedGen UID:355560	Torsion dystonia 7	http://www.ncbi.nlm.nih.gov/medgen/355560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011200	http://purl.obolibrary.org/obo/MONDO_0011200	NANDO:1200518
C1868681	MedGen UID:358384	Dystonia 12	http://www.ncbi.nlm.nih.gov/medgen/358384	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	NANDO:1200524
C1868681	MedGen UID:358384	Dystonia 12	http://www.ncbi.nlm.nih.gov/medgen/358384	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007496	http://purl.obolibrary.org/obo/MONDO_0007496	NANDO:1200523
C0013264	MedGen UID:3925	Duchenne muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/3925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	NANDO:1200488
C0018523	MedGen UID:6708	Pigmentary pallidal degeneration	http://www.ncbi.nlm.nih.gov/medgen/6708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	NANDO:1200534
C0238288	MedGen UID:65956	Facioscapulohumeral muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/65956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	NANDO:1200491
C0238357	MedGen UID:68665	Familial hyperkalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/68665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	NANDO:1200504
C0238358	MedGen UID:116058	Hypokalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/116058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008223	http://purl.obolibrary.org/obo/MONDO_0008223	NANDO:1200503
C0265354	MedGen UID:75567	CHARGE syndrome	http://www.ncbi.nlm.nih.gov/medgen/75567	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008965	http://purl.obolibrary.org/obo/MONDO_0008965	NANDO:1200464
C0751360	MedGen UID:155852	Congenital myotonia, autosomal recessive form	http://www.ncbi.nlm.nih.gov/medgen/155852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009715	http://purl.obolibrary.org/obo/MONDO_0009715	NANDO:1200499
C0751587	MedGen UID:199687	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	http://www.ncbi.nlm.nih.gov/medgen/199687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007432	http://purl.obolibrary.org/obo/MONDO_0007432	NANDO:1200545
C0751951	MedGen UID:199773	Central core myopathy	http://www.ncbi.nlm.nih.gov/medgen/199773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	NANDO:1200479
C0752282	MedGen UID:156050	Congenital structural myopathy	http://www.ncbi.nlm.nih.gov/medgen/156050	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002921	http://purl.obolibrary.org/obo/MONDO_0002921	NANDO:1200482
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:1200540
C0917713	MedGen UID:182959	Becker muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/182959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	NANDO:1200489
C5679787	MedGen UID:1826053	Qualitative or quantitative defects of dystrophin	http://www.ncbi.nlm.nih.gov/medgen/1826053	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016147	http://purl.obolibrary.org/obo/MONDO_0016147	NANDO:1200487
CN295306	MedGen UID:977133	Myoclonus-dystonia syndrome	http://www.ncbi.nlm.nih.gov/medgen/977133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000903	http://purl.obolibrary.org/obo/MONDO_0000903	NANDO:1200522
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:1200497
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:1200498
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:1200481
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:1200482
C0206157	MedGen UID:61528	Nemaline myopathy	http://www.ncbi.nlm.nih.gov/medgen/61528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	NANDO:1200478
C0410189	MedGen UID:96078	Emery-Dreifuss muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/96078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	NANDO:1200492
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:1200473
C2931826	MedGen UID:444151	Potassium-aggravated myotonia	http://www.ncbi.nlm.nih.gov/medgen/444151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	NANDO:1200500
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:1200542
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:1200539
C2938918	MedGen UID:1371500	Superficial siderosis	http://www.ncbi.nlm.nih.gov/medgen/1371500	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016594	http://purl.obolibrary.org/obo/MONDO_0016594	NANDO:1200543
C0025312	MedGen UID:7538	Myelomeningocele	http://www.ncbi.nlm.nih.gov/medgen/7538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019773	http://purl.obolibrary.org/obo/MONDO_0019773	NANDO:1200509
C0026850	MedGen UID:44527	Muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/44527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020121	http://purl.obolibrary.org/obo/MONDO_0020121	NANDO:1200486
C0270724	MedGen UID:82852	Infantile neuroaxonal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/82852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	NANDO:1200537
C0270960	MedGen UID:124381	Congenital myopathy	http://www.ncbi.nlm.nih.gov/medgen/124381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	NANDO:1200477
C0270962	MedGen UID:75731	Multiminicore myopathy	http://www.ncbi.nlm.nih.gov/medgen/75731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018948	http://purl.obolibrary.org/obo/MONDO_0018948	NANDO:1200480
C1858558	MedGen UID:346934	Systemic-onset juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/346934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019434	http://purl.obolibrary.org/obo/MONDO_0019434	NANDO:1200470
C3668943	MedGen UID:777150	Fatty acid hydroxylase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/777150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017999	http://purl.obolibrary.org/obo/MONDO_0017999	NANDO:1200541
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:1200466
C0686353	MedGen UID:151940	Limb-girdle muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/151940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016971	http://purl.obolibrary.org/obo/MONDO_0016971	NANDO:1200490
C5568621	MedGen UID:1800044	Atypical pantothenate kinase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/1800044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016305	http://purl.obolibrary.org/obo/MONDO_0016305	NANDO:1200536
C0035934	MedGen UID:48517	Rubinstein-Taybi syndrome	http://www.ncbi.nlm.nih.gov/medgen/48517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	NANDO:1200461
C0037917	MedGen UID:21277	Spina bifida cystica	http://www.ncbi.nlm.nih.gov/medgen/21277	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017069	http://purl.obolibrary.org/obo/MONDO_0017069	NANDO:1200509
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:1200506
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:1200507
C2931171	MedGen UID:443993	Oligoarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/443993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019433	http://purl.obolibrary.org/obo/MONDO_0019433	NANDO:1200471
C0242287	MedGen UID:116151	Isaac syndrome	http://www.ncbi.nlm.nih.gov/medgen/116151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019399	http://purl.obolibrary.org/obo/MONDO_0019399	NANDO:1200510
C5679812	MedGen UID:1826057	Classic pantothenate kinase-associated neurodegeneration	http://www.ncbi.nlm.nih.gov/medgen/1826057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016304	http://purl.obolibrary.org/obo/MONDO_0016304	NANDO:1200535
C5680022	MedGen UID:1842468	Inherited dystonia	http://www.ncbi.nlm.nih.gov/medgen/1842468	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044807	http://purl.obolibrary.org/obo/MONDO_0044807	NANDO:1200511
CN221588	MedGen UID:808180	Dopa-responsive dystonia	http://www.ncbi.nlm.nih.gov/medgen/808180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016812	http://purl.obolibrary.org/obo/MONDO_0016812	NANDO:1200516
C1846386	MedGen UID:375876	Isolated focal cortical dysplasia type IIa	http://www.ncbi.nlm.nih.gov/medgen/375876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017101	http://purl.obolibrary.org/obo/MONDO_0017101	NANDO:1200568
C1848137	MedGen UID:338393	Developmental and epileptic encephalopathy, 9	http://www.ncbi.nlm.nih.gov/medgen/338393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	NANDO:1200599
C1848412	MedGen UID:336339	Photosensitive trichothiodystrophy	http://www.ncbi.nlm.nih.gov/medgen/336339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002470	http://purl.obolibrary.org/obo/MONDO_0002470	NANDO:1200626
C0175713	MedGen UID:61236	Aicardi syndrome	http://www.ncbi.nlm.nih.gov/medgen/61236	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	NANDO:1200562
C0205711	MedGen UID:61440	Pelizaeus-Merzbacher disease	http://www.ncbi.nlm.nih.gov/medgen/61440	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	NANDO:1200576
C0221060	MedGen UID:66357	Oromandibular-limb hypogenesis spectrum	http://www.ncbi.nlm.nih.gov/medgen/66357	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	NANDO:1200559
C0406344	MedGen UID:98025	Follicular ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/98025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043094	http://purl.obolibrary.org/obo/MONDO_0043094	NANDO:1200628
C0431391	MedGen UID:140910	Hemimegalencephaly	http://www.ncbi.nlm.nih.gov/medgen/140910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020492	http://purl.obolibrary.org/obo/MONDO_0020492	NANDO:1200563
C2676243	MedGen UID:390993	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	http://www.ncbi.nlm.nih.gov/medgen/390993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011897	http://purl.obolibrary.org/obo/MONDO_0011897	NANDO:1200585
C2676244	MedGen UID:436642	Hypomyelinating leukodystrophy 6	http://www.ncbi.nlm.nih.gov/medgen/436642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	NANDO:1200578
C2677109	MedGen UID:383026	Hypomyelinating leukodystrophy 4	http://www.ncbi.nlm.nih.gov/medgen/383026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	NANDO:1200581
C5848247	MedGen UID:1852191	Lamellar ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1852191	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017778	http://purl.obolibrary.org/obo/MONDO_0017778	NANDO:1200617
C0023520	MedGen UID:6070	Leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	NANDO:1200575
C0030804	MedGen UID:10619	Mucous membrane pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10619	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018746	http://purl.obolibrary.org/obo/MONDO_0018746	NANDO:1200634
C0030805	MedGen UID:10620	Bullous pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10620	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019082	http://purl.obolibrary.org/obo/MONDO_0019082	NANDO:1200633
C0030805	MedGen UID:10620	Bullous pemphigoid	http://www.ncbi.nlm.nih.gov/medgen/10620	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019082	http://purl.obolibrary.org/obo/MONDO_0019082	NANDO:1200632
C0266463	MedGen UID:78604	Lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/78604	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	NANDO:1200574
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:1200622
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:1200623
C0270726	MedGen UID:78724	Alexander disease	http://www.ncbi.nlm.nih.gov/medgen/78724	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	NANDO:1200554
C0393703	MedGen UID:140741	Epilepsy with myoclonic absences	http://www.ncbi.nlm.nih.gov/medgen/140741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019487	http://purl.obolibrary.org/obo/MONDO_0019487	NANDO:1200589
C0393706	MedGen UID:97959	Early infantile epileptic encephalopathy with suppression bursts	http://www.ncbi.nlm.nih.gov/medgen/97959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100062	http://purl.obolibrary.org/obo/MONDO_0100062	NANDO:1200593
C0432306	MedGen UID:98153	Ichthyosis bullosa of Siemens	http://www.ncbi.nlm.nih.gov/medgen/98153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	NANDO:1200613
C0432443	MedGen UID:96605	Deletion of long arm of chromosome 18	http://www.ncbi.nlm.nih.gov/medgen/96605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	NANDO:1200579
C0549118	MedGen UID:639806	Idiopathic hemiconvulsion-hemiplegia syndrome	http://www.ncbi.nlm.nih.gov/medgen/639806	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019485	http://purl.obolibrary.org/obo/MONDO_0019485	NANDO:1200596
C1096903	MedGen UID:203368	Salla disease	http://www.ncbi.nlm.nih.gov/medgen/203368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	NANDO:1200582
C1274215	MedGen UID:697564	Autosomal recessive congenital ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/697564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	NANDO:1200615
C3494976	MedGen UID:782160	Malignant migrating partial seizures of infancy	http://www.ncbi.nlm.nih.gov/medgen/782160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017385	http://purl.obolibrary.org/obo/MONDO_0017385	NANDO:1200595
C3665333	MedGen UID:777082	Keratitis ichthyosis and deafness syndrome	http://www.ncbi.nlm.nih.gov/medgen/777082	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	NANDO:1200621
C4274084	MedGen UID:894734	Pelizaeus Merzbacher like disease	http://www.ncbi.nlm.nih.gov/medgen/894734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017226	http://purl.obolibrary.org/obo/MONDO_0017226	NANDO:1200577
C4707658	MedGen UID:1645136	Acute encephalopathy with biphasic seizures and late reduced diffusion	http://www.ncbi.nlm.nih.gov/medgen/1645136	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018198	http://purl.obolibrary.org/obo/MONDO_0018198	NANDO:1200552
C4707795	MedGen UID:1645432	Isolated focal cortical dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1645432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019009	http://purl.obolibrary.org/obo/MONDO_0019009	NANDO:1200564
C4749367	MedGen UID:1659013	Mesial temporal lobe epilepsy with hippocampal sclerosis	http://www.ncbi.nlm.nih.gov/medgen/1659013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020476	http://purl.obolibrary.org/obo/MONDO_0020476	NANDO:1200588
C0079154	MedGen UID:38180	Congenital nonbullous ichthyosiform erythroderma	http://www.ncbi.nlm.nih.gov/medgen/38180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019306	http://purl.obolibrary.org/obo/MONDO_0019306	NANDO:1200616
C0079154	MedGen UID:38180	Congenital nonbullous ichthyosiform erythroderma	http://www.ncbi.nlm.nih.gov/medgen/38180	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019306	http://purl.obolibrary.org/obo/MONDO_0019306	NANDO:1200617
C0079588	MedGen UID:86937	X-linked ichthyosis with steryl-sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/86937	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010622	http://purl.obolibrary.org/obo/MONDO_0010622	NANDO:1200625
C0085106	MedGen UID:43100	Familial benign pemphigus	http://www.ncbi.nlm.nih.gov/medgen/43100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008218	http://purl.obolibrary.org/obo/MONDO_0008218	NANDO:1200631
C0338451	MedGen UID:83266	Frontotemporal dementia	http://www.ncbi.nlm.nih.gov/medgen/83266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017276	http://purl.obolibrary.org/obo/MONDO_0017276	NANDO:1200548
C0338462	MedGen UID:83268	Semantic dementia	http://www.ncbi.nlm.nih.gov/medgen/83268	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010857	http://purl.obolibrary.org/obo/MONDO_0010857	NANDO:1200550
C0338503	MedGen UID:90926	Septo-optic dysplasia sequence	http://www.ncbi.nlm.nih.gov/medgen/90926	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	NANDO:1200560
C0598226	MedGen UID:108615	Autosomal recessive congenital ichthyosis 4B	http://www.ncbi.nlm.nih.gov/medgen/108615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	NANDO:1200614
C1836727	MedGen UID:373160	PCWH syndrome	http://www.ncbi.nlm.nih.gov/medgen/373160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	NANDO:1200586
C4011788	MedGen UID:860225	Behavioral variant of frontotemporal dementia	http://www.ncbi.nlm.nih.gov/medgen/860225	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017160	http://purl.obolibrary.org/obo/MONDO_0017160	NANDO:1200549
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:1200603
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:1200604
C0037231	MedGen UID:11443	Sjögren-Larsson syndrome	http://www.ncbi.nlm.nih.gov/medgen/11443	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	NANDO:1200620
C0037769	MedGen UID:11519	West syndrome	http://www.ncbi.nlm.nih.gov/medgen/11519	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018097	http://purl.obolibrary.org/obo/MONDO_0018097	NANDO:1200592
C0038505	MedGen UID:21361	Sturge-Weber syndrome	http://www.ncbi.nlm.nih.gov/medgen/21361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	NANDO:1200606
C0041341	MedGen UID:22518	Tuberous sclerosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/22518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	NANDO:1200607
C0043346	MedGen UID:21943	Xeroderma pigmentosum	http://www.ncbi.nlm.nih.gov/medgen/21943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	NANDO:1200608
C0282102	MedGen UID:79381	Chondrodysplasia punctata 2 X-linked dominant	http://www.ncbi.nlm.nih.gov/medgen/79381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	NANDO:1200630
C0282512	MedGen UID:79465	Landau-Kleffner syndrome	http://www.ncbi.nlm.nih.gov/medgen/79465	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009509	http://purl.obolibrary.org/obo/MONDO_0009509	NANDO:1200602
C1864663	MedGen UID:501134	Hypomyelination and Congenital Cataract	http://www.ncbi.nlm.nih.gov/medgen/501134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	NANDO:1200584
C1868594	MedGen UID:357007	Perry syndrome	http://www.ncbi.nlm.nih.gov/medgen/357007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008201	http://purl.obolibrary.org/obo/MONDO_0008201	NANDO:1200547
C1955934	MedGen UID:363064	Trichothiodystrophy	http://www.ncbi.nlm.nih.gov/medgen/363064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018053	http://purl.obolibrary.org/obo/MONDO_0018053	NANDO:1200627
C1960543	MedGen UID:743311	Bickerstaff brainstem encephalitis	http://www.ncbi.nlm.nih.gov/medgen/743311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019208	http://purl.obolibrary.org/obo/MONDO_0019208	NANDO:1200551
C2748910	MedGen UID:440664	Atypical Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/440664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017746	http://purl.obolibrary.org/obo/MONDO_0017746	NANDO:1200605
C2930868	MedGen UID:418934	Rasmussen subacute encephalitis	http://www.ncbi.nlm.nih.gov/medgen/418934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016019	http://purl.obolibrary.org/obo/MONDO_0016019	NANDO:1200598
C4511307	MedGen UID:1393111	Keratinopathic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1393111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017266	http://purl.obolibrary.org/obo/MONDO_0017266	NANDO:1200610
C4518639	MedGen UID:1381392	Epilepsy of infancy with migrating focal seizures	http://www.ncbi.nlm.nih.gov/medgen/1381392	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100025	http://purl.obolibrary.org/obo/MONDO_0100025	NANDO:1200595
C5437635	MedGen UID:1725198	Autosomal recessive epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1725198	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044742	http://purl.obolibrary.org/obo/MONDO_0044742	NANDO:1200612
C0020074	MedGen UID:6915	Hereditary insensitivity to pain with anhidrosis	http://www.ncbi.nlm.nih.gov/medgen/6915	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	NANDO:1200553
C0020757	MedGen UID:7002	Ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/7002	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019269	http://purl.obolibrary.org/obo/MONDO_0019269	NANDO:1200618
C0238111	MedGen UID:116044	Lennox-Gastaut syndrome	http://www.ncbi.nlm.nih.gov/medgen/116044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	NANDO:1200591
C0265482	MedGen UID:489853	Ring chromosome 20 syndrome	http://www.ncbi.nlm.nih.gov/medgen/489853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015436	http://purl.obolibrary.org/obo/MONDO_0015436	NANDO:1200597
C0751122	MedGen UID:148243	Severe myoclonic epilepsy in infancy	http://www.ncbi.nlm.nih.gov/medgen/148243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100135	http://purl.obolibrary.org/obo/MONDO_0100135	NANDO:1200587
C0795889	MedGen UID:208645	Allan-Herndon-Dudley syndrome	http://www.ncbi.nlm.nih.gov/medgen/208645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	NANDO:1200580
C0796204	MedGen UID:163228	Worster-Drought syndrome	http://www.ncbi.nlm.nih.gov/medgen/163228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008503	http://purl.obolibrary.org/obo/MONDO_0008503	NANDO:1200558
C0856562	MedGen UID:797407	Inherited ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/797407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015947	http://purl.obolibrary.org/obo/MONDO_0015947	NANDO:1200609
C4049262	MedGen UID:1381987	Febrile infection-related epilepsy syndrome	http://www.ncbi.nlm.nih.gov/medgen/1381987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015584	http://purl.obolibrary.org/obo/MONDO_0015584	NANDO:1200600
C5679765	MedGen UID:1842666	Isolated focal cortical dysplasia type Ib	http://www.ncbi.nlm.nih.gov/medgen/1842666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017097	http://purl.obolibrary.org/obo/MONDO_0017097	NANDO:1200566
C5679767	MedGen UID:1843115	Isolated focal cortical dysplasia type Ia	http://www.ncbi.nlm.nih.gov/medgen/1843115	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017096	http://purl.obolibrary.org/obo/MONDO_0017096	NANDO:1200565
C5679768	MedGen UID:1842232	Isolated focal cortical dysplasia type IIb	http://www.ncbi.nlm.nih.gov/medgen/1842232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017102	http://purl.obolibrary.org/obo/MONDO_0017102	NANDO:1200569
C5679914	MedGen UID:1842714	Alexander disease type II	http://www.ncbi.nlm.nih.gov/medgen/1842714	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018210	http://purl.obolibrary.org/obo/MONDO_0018210	NANDO:1200556
C5679915	MedGen UID:1842668	Alexander disease type I	http://www.ncbi.nlm.nih.gov/medgen/1842668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018209	http://purl.obolibrary.org/obo/MONDO_0018209	NANDO:1200555
CN293953	MedGen UID:978511	Neutral lipid storage disease	http://www.ncbi.nlm.nih.gov/medgen/978511	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015611	http://purl.obolibrary.org/obo/MONDO_0015611	NANDO:1200622
CN377632	MedGen UID:1052865	Autosomal dominant epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1052865	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020702	http://purl.obolibrary.org/obo/MONDO_0020702	NANDO:1200611
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:1200688
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:1200688
C0268342	MedGen UID:75672	Ehlers-Danlos syndrome, kyphoscoliotic type 1	http://www.ncbi.nlm.nih.gov/medgen/75672	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	NANDO:1200649
C0398794	MedGen UID:585090	Griscelli syndrome	http://www.ncbi.nlm.nih.gov/medgen/585090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018306	http://purl.obolibrary.org/obo/MONDO_0018306	NANDO:1200640
C0403416	MedGen UID:96040	Crescentic glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/96040	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001645	http://purl.obolibrary.org/obo/MONDO_0001645	NANDO:1200714
C4273131	MedGen UID:1636666	Branchiootic syndrome	http://www.ncbi.nlm.nih.gov/medgen/1636666	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	NANDO:1200675
C0079293	MedGen UID:37178	Acquired epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/37178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018747	http://purl.obolibrary.org/obo/MONDO_0018747	NANDO:1200635
C0079504	MedGen UID:36313	Hermansky-Pudlak syndrome	http://www.ncbi.nlm.nih.gov/medgen/36313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019312	http://purl.obolibrary.org/obo/MONDO_0019312	NANDO:1200638
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:1200701
C1839780	MedGen UID:333403	Fragile X-associated tremor/ataxia syndrome	http://www.ncbi.nlm.nih.gov/medgen/333403	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	NANDO:1200690
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:1200637
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:1200641
C0021345	MedGen UID:7069	Infectious mononucleosis	http://www.ncbi.nlm.nih.gov/medgen/7069	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005810	http://purl.obolibrary.org/obo/MONDO_0005810	NANDO:1200668
C5679811	MedGen UID:1843053	Congenitally uncorrected transposition of the great arteries with cardiac malformation	http://www.ncbi.nlm.nih.gov/medgen/1843053	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016303	http://purl.obolibrary.org/obo/MONDO_0016303	NANDO:1200701
C1567741	MedGen UID:339209	Alport syndrome	http://www.ncbi.nlm.nih.gov/medgen/339209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	NANDO:1200712
C0001193	MedGen UID:7858	Acrocephalosyndactyly type I	http://www.ncbi.nlm.nih.gov/medgen/7858	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	NANDO:1200667
C0009207	MedGen UID:40363	Cockayne syndrome	http://www.ncbi.nlm.nih.gov/medgen/40363	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016006	http://purl.obolibrary.org/obo/MONDO_0016006	NANDO:1200677
C0010273	MedGen UID:1162	Crouzon syndrome	http://www.ncbi.nlm.nih.gov/medgen/1162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	NANDO:1200666
C0010314	MedGen UID:41345	5p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/41345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	NANDO:1200684
C0162635	MedGen UID:58144	Angelman syndrome	http://www.ncbi.nlm.nih.gov/medgen/58144	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	NANDO:1200686
C0175695	MedGen UID:61232	Sotos syndrome	http://www.ncbi.nlm.nih.gov/medgen/61232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	NANDO:1200679
C0175702	MedGen UID:59799	Williams syndrome	http://www.ncbi.nlm.nih.gov/medgen/59799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	NANDO:1200664
C0220658	MedGen UID:67390	Pfeiffer syndrome	http://www.ncbi.nlm.nih.gov/medgen/67390	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	NANDO:1200668
C0221239	MedGen UID:113155	Rapidly progressive glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/113155	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017236	http://purl.obolibrary.org/obo/MONDO_0017236	NANDO:1200714
C5234850	MedGen UID:1714404	Antley-Bixler syndrome	http://www.ncbi.nlm.nih.gov/medgen/1714404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008803	http://purl.obolibrary.org/obo/MONDO_0008803	NANDO:1200669
C0022716	MedGen UID:44030	Menkes kinky-hair syndrome	http://www.ncbi.nlm.nih.gov/medgen/44030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	NANDO:1200653
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	NANDO:1200644
C0028326	MedGen UID:18073	Noonan syndrome	http://www.ncbi.nlm.nih.gov/medgen/18073	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	NANDO:1200680
C0029411	MedGen UID:18210	Pachydermoperiostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/18210	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	NANDO:1200642
C0268337	MedGen UID:75670	Ehlers-Danlos syndrome, type 3	http://www.ncbi.nlm.nih.gov/medgen/75670	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	NANDO:1200647
C0268338	MedGen UID:82790	Ehlers-Danlos syndrome, type 4	http://www.ncbi.nlm.nih.gov/medgen/82790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017314	http://purl.obolibrary.org/obo/MONDO_0017314	NANDO:1200648
C0268353	MedGen UID:82793	Cutis laxa, X-linked	http://www.ncbi.nlm.nih.gov/medgen/82793	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	NANDO:1200654
C1855675	MedGen UID:340930	Joubert syndrome with oculorenal defect	http://www.ncbi.nlm.nih.gov/medgen/340930	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009480	http://purl.obolibrary.org/obo/MONDO_0009480	NANDO:1200662
C1856113	MedGen UID:341067	Mowat-Wilson syndrome	http://www.ncbi.nlm.nih.gov/medgen/341067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	NANDO:1200663
C1857316	MedGen UID:387795	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	http://www.ncbi.nlm.nih.gov/medgen/387795	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009092	http://purl.obolibrary.org/obo/MONDO_0009092	NANDO:1200658
C1863557	MedGen UID:350209	Blepharophimosis - intellectual disability syndrome, SBBYS type	http://www.ncbi.nlm.nih.gov/medgen/350209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	NANDO:1200681
C4225429	MedGen UID:909864	Ehlers-Danlos syndrome, classic type	http://www.ncbi.nlm.nih.gov/medgen/909864	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007522	http://purl.obolibrary.org/obo/MONDO_0007522	NANDO:1200646
C4225671	MedGen UID:902479	VATER association	http://www.ncbi.nlm.nih.gov/medgen/902479	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	NANDO:1200657
C0152101	MedGen UID:57746	Hypoplastic left heart syndrome	http://www.ncbi.nlm.nih.gov/medgen/57746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	NANDO:1200705
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:1200699
C0344622	MedGen UID:488862	Double inlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/488862	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015451	http://purl.obolibrary.org/obo/MONDO_0015451	NANDO:1200704
C0344975	MedGen UID:87491	Pulmonary atresia with intact ventricular septum	http://www.ncbi.nlm.nih.gov/medgen/87491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	NANDO:1200707
C0344976	MedGen UID:87492	Pulmonary atresia with ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/87492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	NANDO:1200708
C1836929	MedGen UID:323030	Emanuel syndrome	http://www.ncbi.nlm.nih.gov/medgen/323030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012176	http://purl.obolibrary.org/obo/MONDO_0012176	NANDO:1200689
C1839780	MedGen UID:333403	Fragile X-associated tremor/ataxia syndrome	http://www.ncbi.nlm.nih.gov/medgen/333403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010382	http://purl.obolibrary.org/obo/MONDO_0010382	NANDO:1200691
C1842870	MedGen UID:334629	Chromosome 1p36 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/334629	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011929	http://purl.obolibrary.org/obo/MONDO_0011929	NANDO:1200682
C1845055	MedGen UID:337145	Alpha thalassemia-X-linked intellectual disability syndrome	http://www.ncbi.nlm.nih.gov/medgen/337145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	NANDO:1200665
C4551623	MedGen UID:1645042	Ehlers-Danlos syndrome, arthrochalasia type	http://www.ncbi.nlm.nih.gov/medgen/1645042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007525	http://purl.obolibrary.org/obo/MONDO_0007525	NANDO:1200650
C5671327	MedGen UID:1812310	Dextro-looped transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/1812310	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019443	http://purl.obolibrary.org/obo/MONDO_0019443	NANDO:1200698
C0032339	MedGen UID:10819	Rothmund-Thomson syndrome	http://www.ncbi.nlm.nih.gov/medgen/10819	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	NANDO:1200671
C0032897	MedGen UID:46057	Prader-Willi syndrome	http://www.ncbi.nlm.nih.gov/medgen/46057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	NANDO:1200678
C0033847	MedGen UID:18733	Pseudoxanthoma elasticum	http://www.ncbi.nlm.nih.gov/medgen/18733	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024308	http://purl.obolibrary.org/obo/MONDO_0024308	NANDO:1200643
C0039685	MedGen UID:21498	Tetralogy of Fallot	http://www.ncbi.nlm.nih.gov/medgen/21498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	NANDO:1200709
C0041207	MedGen UID:52867	Persistent truncus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/52867	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018072	http://purl.obolibrary.org/obo/MONDO_0018072	NANDO:1200693
C0043119	MedGen UID:12147	Werner syndrome	http://www.ncbi.nlm.nih.gov/medgen/12147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	NANDO:1200676
C1956097	MedGen UID:408255	4p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/408255	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	NANDO:1200683
C2700425	MedGen UID:397792	Ehlers-Danlos syndrome, dermatosparaxis type	http://www.ncbi.nlm.nih.gov/medgen/397792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	NANDO:1200651
C0013069	MedGen UID:41649	Double outlet right ventricle	http://www.ncbi.nlm.nih.gov/medgen/41649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018089	http://purl.obolibrary.org/obo/MONDO_0018089	NANDO:1200710
C0013481	MedGen UID:4435	Ebstein anomaly	http://www.ncbi.nlm.nih.gov/medgen/4435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	NANDO:1200711
C0013720	MedGen UID:41720	Ehlers-Danlos syndrome	http://www.ncbi.nlm.nih.gov/medgen/41720	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	NANDO:1200645
C0016667	MedGen UID:8912	Fragile X syndrome	http://www.ncbi.nlm.nih.gov/medgen/8912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	NANDO:1200692
C0019202	MedGen UID:42426	Wilson disease	http://www.ncbi.nlm.nih.gov/medgen/42426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	NANDO:1200655
C0020630	MedGen UID:43799	Hypophosphatasia	http://www.ncbi.nlm.nih.gov/medgen/43799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018570	http://purl.obolibrary.org/obo/MONDO_0018570	NANDO:1200656
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:1200706
C0265210	MedGen UID:120511	Weaver syndrome	http://www.ncbi.nlm.nih.gov/medgen/120511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	NANDO:1200659
C0265234	MedGen UID:82693	Melnick-Fraser syndrome	http://www.ncbi.nlm.nih.gov/medgen/82693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	NANDO:1200675
C0265252	MedGen UID:75556	Coffin-Lowry syndrome	http://www.ncbi.nlm.nih.gov/medgen/75556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	NANDO:1200660
C0265338	MedGen UID:75565	Coffin-Siris syndrome	http://www.ncbi.nlm.nih.gov/medgen/75565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	NANDO:1200670
C0795864	MedGen UID:162881	Smith-Magenis syndrome	http://www.ncbi.nlm.nih.gov/medgen/162881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	NANDO:1200687
C0795949	MedGen UID:167086	Galloway-Mowat syndrome	http://www.ncbi.nlm.nih.gov/medgen/167086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	NANDO:1200713
C0796004	MedGen UID:162897	Kabuki syndrome	http://www.ncbi.nlm.nih.gov/medgen/162897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	NANDO:1200672
C5679612	MedGen UID:1826007	Joubert syndrome and related disorders	http://www.ncbi.nlm.nih.gov/medgen/1826007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015369	http://purl.obolibrary.org/obo/MONDO_0015369	NANDO:1200661
C5680251	MedGen UID:1843450	Paternal uniparental disomy of chromosome 14	http://www.ncbi.nlm.nih.gov/medgen/1843450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011975	http://purl.obolibrary.org/obo/MONDO_0011975	NANDO:1200685
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:1200688
C1847501	MedGen UID:337833	GLUT1 deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/337833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000188	http://purl.obolibrary.org/obo/MONDO_0000188	NANDO:1200799
C1848552	MedGen UID:341253	Methylmalonic aciduria and homocystinuria type cblD	http://www.ncbi.nlm.nih.gov/medgen/341253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	NANDO:1200797
C1849678	MedGen UID:376636	Acyl-CoA oxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/376636	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009919	http://purl.obolibrary.org/obo/MONDO_0009919	NANDO:1200765
C1855102	MedGen UID:344420	Methylmalonic aciduria, cblB type	http://www.ncbi.nlm.nih.gov/medgen/344420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	NANDO:1200796
C1855109	MedGen UID:344422	Methylmalonic aciduria, cblA type	http://www.ncbi.nlm.nih.gov/medgen/344422	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	NANDO:1200795
C1855114	MedGen UID:344424	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	http://www.ncbi.nlm.nih.gov/medgen/344424	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009612	http://purl.obolibrary.org/obo/MONDO_0009612	NANDO:1200794
C0221757	MedGen UID:67461	Alpha-1-antitrypsin deficiency	http://www.ncbi.nlm.nih.gov/medgen/67461	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	NANDO:1200755
C1970472	MedGen UID:410079	Autoimmune pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/410079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	NANDO:1200747
C1970472	MedGen UID:410079	Autoimmune pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/410079	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012579	http://purl.obolibrary.org/obo/MONDO_0012579	NANDO:1200748
C3150990	MedGen UID:462340	Sterol carrier protein 2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013391	http://purl.obolibrary.org/obo/MONDO_0013391	NANDO:1200767
C0024776	MedGen UID:6217	Maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/6217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	NANDO:1200791
C0027721	MedGen UID:10307	Lipoid nephrosis	http://www.ncbi.nlm.nih.gov/medgen/10307	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006835	http://purl.obolibrary.org/obo/MONDO_0006835	NANDO:1200720
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:1200785
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:1200784
C0031880	MedGen UID:18472	Extreme obesity with alveolar hypoventilation	http://www.ncbi.nlm.nih.gov/medgen/18472	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009763	http://purl.obolibrary.org/obo/MONDO_0009763	NANDO:1200752
C0268164	MedGen UID:75658	Primary hyperoxaluria, type I	http://www.ncbi.nlm.nih.gov/medgen/75658	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009823	http://purl.obolibrary.org/obo/MONDO_0009823	NANDO:1200773
C0268419	MedGen UID:75679	Acatalasia	http://www.ncbi.nlm.nih.gov/medgen/75679	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013571	http://purl.obolibrary.org/obo/MONDO_0013571	NANDO:1200774
C0268487	MedGen UID:75687	Tyrosinemia type II	http://www.ncbi.nlm.nih.gov/medgen/75687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	NANDO:1200789
C0268490	MedGen UID:75688	Tyrosinemia type I	http://www.ncbi.nlm.nih.gov/medgen/75688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	NANDO:1200788
C0268575	MedGen UID:82822	Isovaleryl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	NANDO:1200798
C0268579	MedGen UID:75694	Propionic acidemia	http://www.ncbi.nlm.nih.gov/medgen/75694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	NANDO:1200792
C0268583	MedGen UID:120654	Methylmalonic acidemia	http://www.ncbi.nlm.nih.gov/medgen/120654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	NANDO:1200793
C0268595	MedGen UID:124337	Glutaric aciduria, type 1	http://www.ncbi.nlm.nih.gov/medgen/124337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	NANDO:1200800
C0268596	MedGen UID:75696	Multiple acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75696	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	NANDO:1200801
C0268623	MedGen UID:78694	Tyrosinemia type III	http://www.ncbi.nlm.nih.gov/medgen/78694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	NANDO:1200790
C0268689	MedGen UID:124344	Vitamin D-dependent rickets, type 1	http://www.ncbi.nlm.nih.gov/medgen/124344	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009924	http://purl.obolibrary.org/obo/MONDO_0009924	NANDO:1200782
C0403416	MedGen UID:96040	Crescentic glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/96040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001645	http://purl.obolibrary.org/obo/MONDO_0001645	NANDO:1200723
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:1200717
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:1200718
C1857242	MedGen UID:341734	Rhizomelic chondrodysplasia punctata type 2	http://www.ncbi.nlm.nih.gov/medgen/341734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009112	http://purl.obolibrary.org/obo/MONDO_0009112	NANDO:1200771
C1859133	MedGen UID:347072	Rhizomelic chondrodysplasia punctata type 1	http://www.ncbi.nlm.nih.gov/medgen/347072	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008972	http://purl.obolibrary.org/obo/MONDO_0008972	NANDO:1200763
C3280428	MedGen UID:482058	Alpha-methylacyl-CoA racemase deficiency	http://www.ncbi.nlm.nih.gov/medgen/482058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013681	http://purl.obolibrary.org/obo/MONDO_0013681	NANDO:1200768
C3554330	MedGen UID:767244	Immunoglobulin-mediated membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/767244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014005	http://purl.obolibrary.org/obo/MONDO_0014005	NANDO:1200726
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:1200746
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:1200750
C4082171	MedGen UID:907954	Congenital hyperammonemia, type I	http://www.ncbi.nlm.nih.gov/medgen/907954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	NANDO:1200803
C0154246	MedGen UID:57586	Disorder of the urea cycle metabolism	http://www.ncbi.nlm.nih.gov/medgen/57586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004739	http://purl.obolibrary.org/obo/MONDO_0004739	NANDO:1200802
C0342870	MedGen UID:137982	Bifunctional peroxisomal enzyme deficiency	http://www.ncbi.nlm.nih.gov/medgen/137982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009855	http://purl.obolibrary.org/obo/MONDO_0009855	NANDO:1200766
C0733682	MedGen UID:196551	Familial X-linked hypophosphatemic vitamin D refractory rickets	http://www.ncbi.nlm.nih.gov/medgen/196551	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010619	http://purl.obolibrary.org/obo/MONDO_0010619	NANDO:1200779
C1838612	MedGen UID:374012	Rhizomelic chondrodysplasia punctata type 3	http://www.ncbi.nlm.nih.gov/medgen/374012	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010823	http://purl.obolibrary.org/obo/MONDO_0010823	NANDO:1200772
C4551966	MedGen UID:1645412	Encephalopathy due to GLUT1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1645412	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	NANDO:1200799
C0034960	MedGen UID:11161	Phytanic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/11161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	NANDO:1200769
C2748783	MedGen UID:411667	Vitamin D-dependent rickets, type 2B	http://www.ncbi.nlm.nih.gov/medgen/411667	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010931	http://purl.obolibrary.org/obo/MONDO_0010931	NANDO:1200779
C5400698	MedGen UID:1763046	Pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/1763046	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001437	http://purl.obolibrary.org/obo/MONDO_0001437	NANDO:1200746
C0017665	MedGen UID:42231	Membranous nephropathy	http://www.ncbi.nlm.nih.gov/medgen/42231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005376	http://purl.obolibrary.org/obo/MONDO_0005376	NANDO:1200721
C0020626	MedGen UID:6985	Hypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001220	http://purl.obolibrary.org/obo/MONDO_0001220	NANDO:1200775
C0020807	MedGen UID:9403	Idiopathic pulmonary hemosiderosis	http://www.ncbi.nlm.nih.gov/medgen/9403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	NANDO:1200751
C1332309	MedGen UID:231383	Anti-basement membrane glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/231383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003136	http://purl.obolibrary.org/obo/MONDO_0003136	NANDO:1200717
CN327126	MedGen UID:1008296	Inherited focal segmental glomerulosclerosis	http://www.ncbi.nlm.nih.gov/medgen/1008296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005363	http://purl.obolibrary.org/obo/MONDO_0005363	NANDO:1200722
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:1200780
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:1200778
C1832200	MedGen UID:330407	Peroxisome biogenesis disorder	http://www.ncbi.nlm.nih.gov/medgen/330407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	NANDO:1200759
C0006272	MedGen UID:665	Bronchiolitis obliterans with obstructive pulmonary disease	http://www.ncbi.nlm.nih.gov/medgen/665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015265	http://purl.obolibrary.org/obo/MONDO_0015265	NANDO:1200745
C0162283	MedGen UID:57876	Nephrogenic diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/57876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016383	http://purl.obolibrary.org/obo/MONDO_0016383	NANDO:1200742
C0221239	MedGen UID:113155	Rapidly progressive glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/113155	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017236	http://purl.obolibrary.org/obo/MONDO_0017236	NANDO:1200723
C0221468	MedGen UID:526251	Vitamin D-dependent rickets	http://www.ncbi.nlm.nih.gov/medgen/526251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024299	http://purl.obolibrary.org/obo/MONDO_0024299	NANDO:1200781
C0406810	MedGen UID:140810	Carney complex	http://www.ncbi.nlm.nih.gov/medgen/140810	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015285	http://purl.obolibrary.org/obo/MONDO_0015285	NANDO:1200756
C0268743	MedGen UID:124345	Mesangiocapillary glomerulonephritis, type II	http://www.ncbi.nlm.nih.gov/medgen/124345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019736	http://purl.obolibrary.org/obo/MONDO_0019736	NANDO:1200739
C3496337	MedGen UID:501252	Idiopathic nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/501252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018170	http://purl.obolibrary.org/obo/MONDO_0018170	NANDO:1200719
C3536983	MedGen UID:760752	Vitamin D-dependent rickets, type 2	http://www.ncbi.nlm.nih.gov/medgen/760752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019642	http://purl.obolibrary.org/obo/MONDO_0019642	NANDO:1200783
C3873302	MedGen UID:845105	Secondary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/845105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018483	http://purl.obolibrary.org/obo/MONDO_0018483	NANDO:1200749
C0033806	MedGen UID:46178	Pseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/46178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019992	http://purl.obolibrary.org/obo/MONDO_0019992	NANDO:1200776
C0039445	MedGen UID:52657	Hereditary hemorrhagic telangiectasia	http://www.ncbi.nlm.nih.gov/medgen/52657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	NANDO:1200744
C0043207	MedGen UID:21923	Wolfram syndrome	http://www.ncbi.nlm.nih.gov/medgen/21923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018105	http://purl.obolibrary.org/obo/MONDO_0018105	NANDO:1200757
C0043459	MedGen UID:21958	Zellweger spectrum disorders	http://www.ncbi.nlm.nih.gov/medgen/21958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019609	http://purl.obolibrary.org/obo/MONDO_0019609	NANDO:1200760
C0282488	MedGen UID:129176	Interstitial cystitis	http://www.ncbi.nlm.nih.gov/medgen/129176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018301	http://purl.obolibrary.org/obo/MONDO_0018301	NANDO:1200743
C0282528	MedGen UID:129185	Peroxisomal disorder	http://www.ncbi.nlm.nih.gov/medgen/129185	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019053	http://purl.obolibrary.org/obo/MONDO_0019053	NANDO:1200758
C0751436	MedGen UID:199656	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	http://www.ncbi.nlm.nih.gov/medgen/199656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016543	http://purl.obolibrary.org/obo/MONDO_0016543	NANDO:1200786
C5681192	MedGen UID:1842510	Disorder of plasmalogens biosynthesis	http://www.ncbi.nlm.nih.gov/medgen/1842510	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017986	http://purl.obolibrary.org/obo/MONDO_0017986	NANDO:1200770
C5681280	MedGen UID:1843097	Disorder of peroxisomal beta oxidation	http://www.ncbi.nlm.nih.gov/medgen/1843097	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019233	http://purl.obolibrary.org/obo/MONDO_0019233	NANDO:1200764
CN304703	MedGen UID:988496	Primary membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/988496	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018904	http://purl.obolibrary.org/obo/MONDO_0018904	NANDO:1200725
C0000744	MedGen UID:1253	Abetalipoproteinaemia	http://www.ncbi.nlm.nih.gov/medgen/1253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	NANDO:1200857
C0001080	MedGen UID:1289	Achondroplasia	http://www.ncbi.nlm.nih.gov/medgen/1289	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	NANDO:1200877
C0162531	MedGen UID:57931	Hereditary coproporphyria	http://www.ncbi.nlm.nih.gov/medgen/57931	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	NANDO:1200813
C0162532	MedGen UID:58118	Variegate porphyria	http://www.ncbi.nlm.nih.gov/medgen/58118	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	NANDO:1200814
C0162565	MedGen UID:56452	Acute intermittent porphyria	http://www.ncbi.nlm.nih.gov/medgen/56452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	NANDO:1200812
C0162568	MedGen UID:56455	Erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/56455	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	NANDO:1200815
C0221032	MedGen UID:67438	Congenital generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/67438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006536	http://purl.obolibrary.org/obo/MONDO_0006536	NANDO:1200859
C0022739	MedGen UID:9646	Angioosteohypertrophic syndrome	http://www.ncbi.nlm.nih.gov/medgen/9646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	NANDO:1200884
C0023787	MedGen UID:6111	Lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006573	http://purl.obolibrary.org/obo/MONDO_0006573	NANDO:1200858
C0027122	MedGen UID:6503	Myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/6503	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003964	http://purl.obolibrary.org/obo/MONDO_0003964	NANDO:1200871
C0029436	MedGen UID:45247	Disappearing bone disease	http://www.ncbi.nlm.nih.gov/medgen/45247	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003157	http://purl.obolibrary.org/obo/MONDO_0003157	NANDO:1200878
C0029438	MedGen UID:45248	Gorham-Stout disease	http://www.ncbi.nlm.nih.gov/medgen/45248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007414	http://purl.obolibrary.org/obo/MONDO_0007414	NANDO:1200878
C4692546	MedGen UID:1643471	Protoporphyria, erythropoietic, 1	http://www.ncbi.nlm.nih.gov/medgen/1643471	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008319	http://purl.obolibrary.org/obo/MONDO_0008319	NANDO:1200815
C5676874	MedGen UID:1801596	Congenital dyserythropoietic anemia, type III	http://www.ncbi.nlm.nih.gov/medgen/1801596	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007109	http://purl.obolibrary.org/obo/MONDO_0007109	NANDO:1200888
C0038013	MedGen UID:11561	Ankylosing spondylitis	http://www.ncbi.nlm.nih.gov/medgen/11561	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005306	http://purl.obolibrary.org/obo/MONDO_0005306	NANDO:1200870
C1868678	MedGen UID:358383	Thanatophoric dysplasia type 1	http://www.ncbi.nlm.nih.gov/medgen/358383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	NANDO:1200875
C0016037	MedGen UID:4698	Progressive myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/4698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	NANDO:1200871
C0017919	MedGen UID:6639	Glycogen storage disease	http://www.ncbi.nlm.nih.gov/medgen/6639	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002412	http://purl.obolibrary.org/obo/MONDO_0002412	NANDO:1200838
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:1200840
C1300257	MedGen UID:226975	Thanatophoric dysplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/226975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	NANDO:1200876
C1850568	MedGen UID:376827	Proteosome-associated autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/376827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	NANDO:1200867
C0162530	MedGen UID:102408	Cutaneous porphyria	http://www.ncbi.nlm.nih.gov/medgen/102408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	NANDO:1200817
C0220754	MedGen UID:66323	Biotinidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/66323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009665	http://purl.obolibrary.org/obo/MONDO_0009665	NANDO:1200822
C0410422	MedGen UID:140822	Chronic multifocal osteomyelitis	http://www.ncbi.nlm.nih.gov/medgen/140822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	NANDO:1200869
C1970848	MedGen UID:410166	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/410166	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010392	http://purl.obolibrary.org/obo/MONDO_0010392	NANDO:1200831
C2677889	MedGen UID:394385	X-linked erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/394385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	NANDO:1200818
C0023195	MedGen UID:9698	Norum disease	http://www.ncbi.nlm.nih.gov/medgen/9698	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009515	http://purl.obolibrary.org/obo/MONDO_0009515	NANDO:1200852
C0268146	MedGen UID:78644	Glucose-6-phosphate transport defect	http://www.ncbi.nlm.nih.gov/medgen/78644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	NANDO:1200841
C0268149	MedGen UID:120613	Glycogen storage disease type X	http://www.ncbi.nlm.nih.gov/medgen/120613	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009865	http://purl.obolibrary.org/obo/MONDO_0009865	NANDO:1200832
C0268151	MedGen UID:82777	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/medgen/82777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	NANDO:1200851
C0268542	MedGen UID:75692	Ornithine carbamoyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	NANDO:1200804
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	NANDO:1200808
C0268547	MedGen UID:78687	Argininosuccinate lyase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	NANDO:1200806
C0268548	MedGen UID:78688	Arginase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	NANDO:1200807
C0268581	MedGen UID:120653	Holocarboxylase synthetase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009666	http://purl.obolibrary.org/obo/MONDO_0009666	NANDO:1200821
C0268647	MedGen UID:75704	Lysinuric protein intolerance	http://www.ncbi.nlm.nih.gov/medgen/75704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	NANDO:1200809
C0398691	MedGen UID:140768	Hyperimmunoglobulin D with periodic fever	http://www.ncbi.nlm.nih.gov/medgen/140768	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	NANDO:1200866
C0543514	MedGen UID:107772	Glycogen storage disease IXb	http://www.ncbi.nlm.nih.gov/medgen/107772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	NANDO:1200848
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:1200838
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:1200824
C1858361	MedGen UID:346801	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	http://www.ncbi.nlm.nih.gov/medgen/346801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	NANDO:1200868
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:1200847
C4721769	MedGen UID:1648491	Citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1648491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	NANDO:1200805
C0342705	MedGen UID:83348	Congenital defect of folate absorption	http://www.ncbi.nlm.nih.gov/medgen/83348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	NANDO:1200810
C0342907	MedGen UID:87466	Sitosterolemia	http://www.ncbi.nlm.nih.gov/medgen/87466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008863	http://purl.obolibrary.org/obo/MONDO_0008863	NANDO:1200853
C1845151	MedGen UID:335112	Glycogen storage disease IXd	http://www.ncbi.nlm.nih.gov/medgen/335112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	NANDO:1200830
C0039292	MedGen UID:52644	Tangier disease	http://www.ncbi.nlm.nih.gov/medgen/52644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008783	http://purl.obolibrary.org/obo/MONDO_0008783	NANDO:1200854
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:1200825
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1200844
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1200826
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:1200850
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:1200827
C0017924	MedGen UID:5341	Glycogen storage disease, type V	http://www.ncbi.nlm.nih.gov/medgen/5341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	NANDO:1200828
C0017925	MedGen UID:6643	Glycogen storage disease, type VI	http://www.ncbi.nlm.nih.gov/medgen/6643	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	NANDO:1200846
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:1200829
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:1200823
C0238052	MedGen UID:116041	Cholestanol storage disease	http://www.ncbi.nlm.nih.gov/medgen/116041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008948	http://purl.obolibrary.org/obo/MONDO_0008948	NANDO:1200856
C1306589	MedGen UID:266296	Congenital dyserythropoietic anemia, type II	http://www.ncbi.nlm.nih.gov/medgen/266296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009134	http://purl.obolibrary.org/obo/MONDO_0009134	NANDO:1200887
CN293506	MedGen UID:976601	Autosomal recessive familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/976601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009572	http://purl.obolibrary.org/obo/MONDO_0009572	NANDO:1200864
C0002876	MedGen UID:8064	Congenital dyserythropoietic anemia	http://www.ncbi.nlm.nih.gov/medgen/8064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	NANDO:1200885
C0162566	MedGen UID:56453	Porphyria cutanea tarda	http://www.ncbi.nlm.nih.gov/medgen/56453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015104	http://purl.obolibrary.org/obo/MONDO_0015104	NANDO:1200816
C0162569	MedGen UID:57940	Hepatoerythropoietic porphyria	http://www.ncbi.nlm.nih.gov/medgen/57940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019799	http://purl.obolibrary.org/obo/MONDO_0019799	NANDO:1200819
C0205828	MedGen UID:104729	Cavernous lymphangioma	http://www.ncbi.nlm.nih.gov/medgen/104729	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019328	http://purl.obolibrary.org/obo/MONDO_0019328	NANDO:1200881
C0220989	MedGen UID:66352	Acquired partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/66352	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012104	http://purl.obolibrary.org/obo/MONDO_0012104	NANDO:1200862
C2931345	MedGen UID:419390	Glycogen storage disease type 1 due to SLC37A4 mutation	http://www.ncbi.nlm.nih.gov/medgen/419390	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0023258	http://purl.obolibrary.org/obo/MONDO_0023258	NANDO:1200841
C2931743	MedGen UID:419152	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	http://www.ncbi.nlm.nih.gov/medgen/419152	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013047	http://purl.obolibrary.org/obo/MONDO_0013047	NANDO:1200833
C3150754	MedGen UID:462104	Glycogen storage disease XV	http://www.ncbi.nlm.nih.gov/medgen/462104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013291	http://purl.obolibrary.org/obo/MONDO_0013291	NANDO:1200837
C5779633	MedGen UID:1830326	LCAT deficiency	http://www.ncbi.nlm.nih.gov/medgen/1830326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018999	http://purl.obolibrary.org/obo/MONDO_0018999	NANDO:1200852
C5848305	MedGen UID:1844832	Porphyria	http://www.ncbi.nlm.nih.gov/medgen/1844832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037939	http://purl.obolibrary.org/obo/MONDO_0037939	NANDO:1200811
C0026755	MedGen UID:10119	Multiple carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/10119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015454	http://purl.obolibrary.org/obo/MONDO_0015454	NANDO:1200820
C0029434	MedGen UID:45246	Osteogenesis imperfecta	http://www.ncbi.nlm.nih.gov/medgen/45246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	NANDO:1200873
C0031069	MedGen UID:45811	Familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/45811	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018088	http://purl.obolibrary.org/obo/MONDO_0018088	NANDO:1200863
C0039743	MedGen UID:21124	Thanatophoric dysplasia	http://www.ncbi.nlm.nih.gov/medgen/21124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017042	http://purl.obolibrary.org/obo/MONDO_0017042	NANDO:1200874
C0271693	MedGen UID:543499	Acquired generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/543499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019193	http://purl.obolibrary.org/obo/MONDO_0019193	NANDO:1200860
C0271694	MedGen UID:124408	Familial partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/124408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	NANDO:1200861
C0271933	MedGen UID:82891	Congenital dyserythropoietic anemia, type I	http://www.ncbi.nlm.nih.gov/medgen/82891	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020337	http://purl.obolibrary.org/obo/MONDO_0020337	NANDO:1200886
C0272066	MedGen UID:82895	HNSHA due to aldolase A deficiency	http://www.ncbi.nlm.nih.gov/medgen/82895	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012747	http://purl.obolibrary.org/obo/MONDO_0012747	NANDO:1200834
C1959626	MedGen UID:368373	Mevalonic aciduria	http://www.ncbi.nlm.nih.gov/medgen/368373	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012481	http://purl.obolibrary.org/obo/MONDO_0012481	NANDO:1200866
C2751643	MedGen UID:442778	Glycogen storage disease IXc	http://www.ncbi.nlm.nih.gov/medgen/442778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	NANDO:1200849
C2752015	MedGen UID:414536	PGM1-congenital disorder of glycosylation	http://www.ncbi.nlm.nih.gov/medgen/414536	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013968	http://purl.obolibrary.org/obo/MONDO_0013968	NANDO:1200836
C2752027	MedGen UID:442873	Glycogen storage disease due to muscle beta-enolase deficiency	http://www.ncbi.nlm.nih.gov/medgen/442873	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013046	http://purl.obolibrary.org/obo/MONDO_0013046	NANDO:1200835
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:1200859
CN283243	MedGen UID:966646	Autosomal erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/966646	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019263	http://purl.obolibrary.org/obo/MONDO_0019263	NANDO:1200815
C0001169	MedGen UID:98	Acquired coagulation factor deficiency	http://www.ncbi.nlm.nih.gov/medgen/98	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020599	http://purl.obolibrary.org/obo/MONDO_0020599	NANDO:1200896
C0005411	MedGen UID:14117	Biliary atresia	http://www.ncbi.nlm.nih.gov/medgen/14117	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008867	http://purl.obolibrary.org/obo/MONDO_0008867	NANDO:1200913
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:1200922
C0221018	MedGen UID:65119	Hereditary sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/65119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	NANDO:1200892
C2609129	MedGen UID:750633	Autoimmune pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/750633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015175	http://purl.obolibrary.org/obo/MONDO_0015175	NANDO:1200925
C5392056	MedGen UID:1708840	IgG4-related kidney disease	http://www.ncbi.nlm.nih.gov/medgen/1708840	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018671	http://purl.obolibrary.org/obo/MONDO_0018671	NANDO:1200930
C0026103	MedGen UID:6399	IgG4-related dacryoadenitis and sialadenitis	http://www.ncbi.nlm.nih.gov/medgen/6399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019191	http://purl.obolibrary.org/obo/MONDO_0019191	NANDO:1200929
C0265836	MedGen UID:539527	Congenital tricuspid stenosis	http://www.ncbi.nlm.nih.gov/medgen/539527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019813	http://purl.obolibrary.org/obo/MONDO_0019813	NANDO:1200962
C1096116	MedGen UID:204253	Acquired hemophilia	http://www.ncbi.nlm.nih.gov/medgen/204253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019139	http://purl.obolibrary.org/obo/MONDO_0019139	NANDO:1200898
C1260899	MedGen UID:266045	Diamond-Blackfan anemia	http://www.ncbi.nlm.nih.gov/medgen/266045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	NANDO:1200890
C3203653	MedGen UID:473761	IgG4-related disease	http://www.ncbi.nlm.nih.gov/medgen/473761	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017287	http://purl.obolibrary.org/obo/MONDO_0017287	NANDO:1200924
C3203653	MedGen UID:473761	IgG4-related disease	http://www.ncbi.nlm.nih.gov/medgen/473761	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017287	http://purl.obolibrary.org/obo/MONDO_0017287	NANDO:1200923
C4302109	MedGen UID:927778	IgG4-related sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/927778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018645	http://purl.obolibrary.org/obo/MONDO_0018645	NANDO:1200928
C4707560	MedGen UID:1647585	Adult pure red cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/1647585	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020338	http://purl.obolibrary.org/obo/MONDO_0020338	NANDO:1200889
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:1200918
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:1200919
C0339427	MedGen UID:573145	Partial central choroid dystrophy	http://www.ncbi.nlm.nih.gov/medgen/573145	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004890	http://purl.obolibrary.org/obo/MONDO_0004890	NANDO:1200939
C0339508	MedGen UID:137919	Hereditary macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/137919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020242	http://purl.obolibrary.org/obo/MONDO_0020242	NANDO:1200931
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:1200910
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:1200909
C0272362	MedGen UID:543999	Acquired von willebrand syndrome	http://www.ncbi.nlm.nih.gov/medgen/543999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020460	http://purl.obolibrary.org/obo/MONDO_0020460	NANDO:1200899
C0282207	MedGen UID:129128	Cronkhite-Canada syndrome	http://www.ncbi.nlm.nih.gov/medgen/129128	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008283	http://purl.obolibrary.org/obo/MONDO_0008283	NANDO:1200901
C0015625	MedGen UID:41967	Fanconi anemia	http://www.ncbi.nlm.nih.gov/medgen/41967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	NANDO:1200891
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:1200903
C0235833	MedGen UID:68625	Congenital diaphragmatic hernia	http://www.ncbi.nlm.nih.gov/medgen/68625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	NANDO:1200911
C0238120	MedGen UID:1393253	Acquired factor XIII deficiency	http://www.ncbi.nlm.nih.gov/medgen/1393253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021133	http://purl.obolibrary.org/obo/MONDO_0021133	NANDO:1200897
C0238339	MedGen UID:116056	Hereditary pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/116056	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	NANDO:1200921
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:1200962
C1568247	MedGen UID:292820	Usher syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/292820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010168	http://purl.obolibrary.org/obo/MONDO_0010168	NANDO:1200942
C1568248	MedGen UID:339336	Usher syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/339336	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016485	http://purl.obolibrary.org/obo/MONDO_0016485	NANDO:1200944
C1829703	MedGen UID:316820	Carnitine palmitoyl transferase 1A deficiency	http://www.ncbi.nlm.nih.gov/medgen/316820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	NANDO:1200970
C0158618	MedGen UID:57857	Congenital mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/57857	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020398	http://purl.obolibrary.org/obo/MONDO_0020398	NANDO:1200963
C0175694	MedGen UID:61231	Smith-Lemli-Opitz syndrome	http://www.ncbi.nlm.nih.gov/medgen/61231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	NANDO:1200961
C0206307	MedGen UID:61565	Spongy degeneration of central nervous system	http://www.ncbi.nlm.nih.gov/medgen/61565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	NANDO:1200948
C3150833	MedGen UID:462183	Occult macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/462183	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013316	http://purl.obolibrary.org/obo/MONDO_0013316	NANDO:1200934
C0026269	MedGen UID:44466	Mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/44466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005852	http://purl.obolibrary.org/obo/MONDO_0005852	NANDO:1200963
C0027341	MedGen UID:10257	Nail-patella syndrome	http://www.ncbi.nlm.nih.gov/medgen/10257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	NANDO:1200967
C0270972	MedGen UID:78752	De Lange syndrome	http://www.ncbi.nlm.nih.gov/medgen/78752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	NANDO:1200960
C0271093	MedGen UID:75734	Stargardt disease	http://www.ncbi.nlm.nih.gov/medgen/75734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019353	http://purl.obolibrary.org/obo/MONDO_0019353	NANDO:1200933
C0271097	MedGen UID:78754	Usher syndrome	http://www.ncbi.nlm.nih.gov/medgen/78754	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019501	http://purl.obolibrary.org/obo/MONDO_0019501	NANDO:1200941
C0917796	MedGen UID:182973	Leber optic atrophy	http://www.ncbi.nlm.nih.gov/medgen/182973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010788	http://purl.obolibrary.org/obo/MONDO_0010788	NANDO:1200940
C1858854	MedGen UID:347006	Megalencephalic leukoencephalopathy with subcortical cysts	http://www.ncbi.nlm.nih.gov/medgen/347006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011391	http://purl.obolibrary.org/obo/MONDO_0011391	NANDO:1200950
C3714753	MedGen UID:811458	Juvenile retinoschisis	http://www.ncbi.nlm.nih.gov/medgen/811458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010725	http://purl.obolibrary.org/obo/MONDO_0010725	NANDO:1200938
C4085590	MedGen UID:896366	Cone-rod dystrophy	http://www.ncbi.nlm.nih.gov/medgen/896366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015993	http://purl.obolibrary.org/obo/MONDO_0015993	NANDO:1200937
C4273988	MedGen UID:908684	Benign adult familial myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/908684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019448	http://purl.obolibrary.org/obo/MONDO_0019448	NANDO:1200956
C4708598	MedGen UID:1642329	Partial duplication of the long arm of chromosome 1	http://www.ncbi.nlm.nih.gov/medgen/1642329	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016952	http://purl.obolibrary.org/obo/MONDO_0016952	NANDO:1200958
C0339510	MedGen UID:137920	Vitelliform macular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/137920	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000390	http://purl.obolibrary.org/obo/MONDO_0000390	NANDO:1200932
C0339534	MedGen UID:83288	Usher syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/83288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016484	http://purl.obolibrary.org/obo/MONDO_0016484	NANDO:1200943
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:1200971
C0730290	MedGen UID:676499	Cone dystrophy	http://www.ncbi.nlm.nih.gov/medgen/676499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000455	http://purl.obolibrary.org/obo/MONDO_0000455	NANDO:1200936
C4014588	MedGen UID:863025	Leukoencephalopathy, progressive, with ovarian failure	http://www.ncbi.nlm.nih.gov/medgen/863025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014387	http://purl.obolibrary.org/obo/MONDO_0014387	NANDO:1200952
C4551771	MedGen UID:1684615	Kleefstra syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012455	http://purl.obolibrary.org/obo/MONDO_0012455	NANDO:1200959
C0751778	MedGen UID:199732	Progressive myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/199732	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	NANDO:1200953
C0751783	MedGen UID:155631	Lafora disease	http://www.ncbi.nlm.nih.gov/medgen/155631	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	NANDO:1200955
C0751785	MedGen UID:155923	Unverricht-Lundborg syndrome	http://www.ncbi.nlm.nih.gov/medgen/155923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	NANDO:1200954
C1536451	MedGen UID:283932	Central areolar choroidal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/283932	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008982	http://purl.obolibrary.org/obo/MONDO_0008982	NANDO:1200939
C5680865	MedGen UID:1826176	Congenital pulmonary veins atresia or stenosis	http://www.ncbi.nlm.nih.gov/medgen/1826176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017864	http://purl.obolibrary.org/obo/MONDO_0017864	NANDO:1200964
C5681080	MedGen UID:1842227	Disorder of carnitine cycle and carnitine transport	http://www.ncbi.nlm.nih.gov/medgen/1842227	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017716	http://purl.obolibrary.org/obo/MONDO_0017716	NANDO:1200969
C1622345	MedGen UID:301243	Finnish type amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/301243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007097	http://purl.obolibrary.org/obo/MONDO_0007097	NANDO:1201063
C1848561	MedGen UID:341256	Cobalamin C disease	http://www.ncbi.nlm.nih.gov/medgen/341256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	NANDO:1201040
C1849453	MedGen UID:336602	Rapadilino syndrome	http://www.ncbi.nlm.nih.gov/medgen/336602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	NANDO:1201058
C1853942	MedGen UID:340091	Neonatal intrahepatic cholestasis due to citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/340091	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011601	http://purl.obolibrary.org/obo/MONDO_0011601	NANDO:1200979
C0003076	MedGen UID:1941	Congenital aniridia	http://www.ncbi.nlm.nih.gov/medgen/1941	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019172	http://purl.obolibrary.org/obo/MONDO_0019172	NANDO:1201001
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:1201021
C0206138	MedGen UID:60083	CREST syndrome	http://www.ncbi.nlm.nih.gov/medgen/60083	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019563	http://purl.obolibrary.org/obo/MONDO_0019563	NANDO:1201011
C0206245	MedGen UID:104815	Familial amyloid neuropathy	http://www.ncbi.nlm.nih.gov/medgen/104815	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007100	http://purl.obolibrary.org/obo/MONDO_0007100	NANDO:1201060
C1997910	MedGen UID:372684	Citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/372684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016602	http://purl.obolibrary.org/obo/MONDO_0016602	NANDO:1200978
C2675179	MedGen UID:436367	Arginine:glycine amidinotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/436367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	NANDO:1201033
C5244016	MedGen UID:1826001	Cerebral creatine deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1826001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	NANDO:1201032
C0029294	MedGen UID:14518	Orofaciodigital syndrome	http://www.ncbi.nlm.nih.gov/medgen/14518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015375	http://purl.obolibrary.org/obo/MONDO_0015375	NANDO:1201051
C0029454	MedGen UID:18223	Osteopetrosis	http://www.ncbi.nlm.nih.gov/medgen/18223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017198	http://purl.obolibrary.org/obo/MONDO_0017198	NANDO:1200998
C0268312	MedGen UID:75668	Progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/75668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	NANDO:1201042
C0268468	MedGen UID:120642	Dopa-responsive dystonia due to sepiapterin reductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012994	http://purl.obolibrary.org/obo/MONDO_0012994	NANDO:1200982
C0393591	MedGen UID:97953	Aicardi Goutieres syndrome	http://www.ncbi.nlm.nih.gov/medgen/97953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	NANDO:1200996
C0393929	MedGen UID:140751	Familial infantile myasthenia	http://www.ncbi.nlm.nih.gov/medgen/140751	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009689	http://purl.obolibrary.org/obo/MONDO_0009689	NANDO:1201057
C0396051	MedGen UID:97973	Congenital subglottic stenosis	http://www.ncbi.nlm.nih.gov/medgen/97973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015395	http://purl.obolibrary.org/obo/MONDO_0015395	NANDO:1201004
C0403553	MedGen UID:96045	Renal dysplasia and retinal aplasia	http://www.ncbi.nlm.nih.gov/medgen/96045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017842	http://purl.obolibrary.org/obo/MONDO_0017842	NANDO:1201049
C1855681	MedGen UID:343406	Nephronophthisis 1	http://www.ncbi.nlm.nih.gov/medgen/343406	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	NANDO:1201036
C1856061	MedGen UID:343470	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343470	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009353	http://purl.obolibrary.org/obo/MONDO_0009353	NANDO:1201041
C1862839	MedGen UID:350766	Anterior segment dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/350766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019503	http://purl.obolibrary.org/obo/MONDO_0019503	NANDO:1201000
C3489789	MedGen UID:483742	Progressive familial intrahepatic cholestasis type 2	http://www.ncbi.nlm.nih.gov/medgen/483742	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	NANDO:1201044
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:1201009
C3696376	MedGen UID:777186	3-Methylglutaconic aciduria	http://www.ncbi.nlm.nih.gov/medgen/777186	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	NANDO:1200989
C5201145	MedGen UID:1684821	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	http://www.ncbi.nlm.nih.gov/medgen/1684821	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012465	http://purl.obolibrary.org/obo/MONDO_0012465	NANDO:1200983
C0339273	MedGen UID:90939	Gelatinous droplike corneal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/90939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008777	http://purl.obolibrary.org/obo/MONDO_0008777	NANDO:1201006
C0342727	MedGen UID:90994	3-methylglutaconic aciduria type 1	http://www.ncbi.nlm.nih.gov/medgen/90994	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009610	http://purl.obolibrary.org/obo/MONDO_0009610	NANDO:1200990
C0342788	MedGen UID:90999	Renal carnitine transport defect	http://www.ncbi.nlm.nih.gov/medgen/90999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	NANDO:1200973
C0342791	MedGen UID:91000	Carnitine acylcarnitine translocase deficiency	http://www.ncbi.nlm.nih.gov/medgen/91000	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	NANDO:1200972
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:1201036
C0748540	MedGen UID:148187	Limited cutaneous systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/148187	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016358	http://purl.obolibrary.org/obo/MONDO_0016358	NANDO:1201011
C1845862	MedGen UID:337451	Creatine transporter deficiency	http://www.ncbi.nlm.nih.gov/medgen/337451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	NANDO:1201035
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:1200995
C4015067	MedGen UID:863504	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/863504	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	NANDO:1200994
C4551990	MedGen UID:1639219	Familial hypobetalipoproteinemia 1	http://www.ncbi.nlm.nih.gov/medgen/1639219	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014252	http://purl.obolibrary.org/obo/MONDO_0014252	NANDO:1201037
C5548200	MedGen UID:1785446	Neonatal glycine encephalopathy	http://www.ncbi.nlm.nih.gov/medgen/1785446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017353	http://purl.obolibrary.org/obo/MONDO_0017353	NANDO:1200985
C5548209	MedGen UID:1781124	Infantile glycine encephalopathy	http://www.ncbi.nlm.nih.gov/medgen/1781124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017354	http://purl.obolibrary.org/obo/MONDO_0017354	NANDO:1200986
C0033300	MedGen UID:46123	Hutchinson-Gilford syndrome	http://www.ncbi.nlm.nih.gov/medgen/46123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	NANDO:1201007
C0272328	MedGen UID:543977	Acquired factor X deficiency	http://www.ncbi.nlm.nih.gov/medgen/543977	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021134	http://purl.obolibrary.org/obo/MONDO_0021134	NANDO:1201048
C1863844	MedGen UID:350276	Citrullinemia type II	http://www.ncbi.nlm.nih.gov/medgen/350276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016603	http://purl.obolibrary.org/obo/MONDO_0016603	NANDO:1200980
C1864233	MedGen UID:400481	Congenital myasthenic syndrome 5	http://www.ncbi.nlm.nih.gov/medgen/400481	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011281	http://purl.obolibrary.org/obo/MONDO_0011281	NANDO:1201056
C1865643	MedGen UID:356333	Progressive familial intrahepatic cholestasis type 3	http://www.ncbi.nlm.nih.gov/medgen/356333	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	NANDO:1201045
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:1200974
C2931067	MedGen UID:418976	Cholestasis, progressive familial intrahepatic, 4	http://www.ncbi.nlm.nih.gov/medgen/418976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014381	http://purl.obolibrary.org/obo/MONDO_0014381	NANDO:1201046
C4310747	MedGen UID:934714	Cholestasis, progressive familial intrahepatic, 5	http://www.ncbi.nlm.nih.gov/medgen/934714	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014884	http://purl.obolibrary.org/obo/MONDO_0014884	NANDO:1201047
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:1201018
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:1201019
C0019880	MedGen UID:42485	Homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/42485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004737	http://purl.obolibrary.org/obo/MONDO_0004737	NANDO:1201038
C0265308	MedGen UID:120532	Baller-Gerold syndrome	http://www.ncbi.nlm.nih.gov/medgen/120532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	NANDO:1201059
C0265767	MedGen UID:120556	Congenital tracheal stenosis	http://www.ncbi.nlm.nih.gov/medgen/120556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011340	http://purl.obolibrary.org/obo/MONDO_0011340	NANDO:1201003
C0574080	MedGen UID:154356	Deficiency of guanidinoacetate methyltransferase	http://www.ncbi.nlm.nih.gov/medgen/154356	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	NANDO:1201034
C0574083	MedGen UID:107893	3-Methylglutaconic aciduria type 2	http://www.ncbi.nlm.nih.gov/medgen/107893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	NANDO:1200991
C0574084	MedGen UID:108273	3-Methylglutaconic aciduria type 3	http://www.ncbi.nlm.nih.gov/medgen/108273	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009787	http://purl.obolibrary.org/obo/MONDO_0009787	NANDO:1200992
C0751202	MedGen UID:199606	Classic homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/199606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009352	http://purl.obolibrary.org/obo/MONDO_0009352	NANDO:1201039
C0751748	MedGen UID:155625	Non-ketotic hyperglycinemia	http://www.ncbi.nlm.nih.gov/medgen/155625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	NANDO:1200984
C1291564	MedGen UID:220945	Deficiency of aromatic-L-amino-acid decarboxylase	http://www.ncbi.nlm.nih.gov/medgen/220945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	NANDO:1200988
C1536500	MedGen UID:280689	Deficiency of acetyl-CoA acetyltransferase	http://www.ncbi.nlm.nih.gov/medgen/280689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	NANDO:1200987
C5680269	MedGen UID:1842920	AApoAI amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1842920	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019731	http://purl.obolibrary.org/obo/MONDO_0019731	NANDO:1201062
CN282059	MedGen UID:965566	Diffuse cutaneous systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/965566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016356	http://purl.obolibrary.org/obo/MONDO_0016356	NANDO:1201010
CN294825	MedGen UID:978099	A20 haploinsufficiency	http://www.ncbi.nlm.nih.gov/medgen/978099	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100222	http://purl.obolibrary.org/obo/MONDO_0100222	NANDO:1200997
CN295299	MedGen UID:976464	Citrullinemia, type II, adult-onset	http://www.ncbi.nlm.nih.gov/medgen/976464	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011326	http://purl.obolibrary.org/obo/MONDO_0011326	NANDO:1200980
C2932717	MedGen UID:444371	Pseudohypoparathyroidism type II	http://www.ncbi.nlm.nih.gov/medgen/444371	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008749	http://purl.obolibrary.org/obo/MONDO_0008749	NANDO:1201078
C3159322	MedGen UID:463613	Spondyloepimetaphyseal dysplasia, Maroteaux type	http://www.ncbi.nlm.nih.gov/medgen/463613	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008473	http://purl.obolibrary.org/obo/MONDO_0008473	NANDO:1201100
CN030853	MedGen UID:1841549	Ehlers-Danlos syndrome progeroid type	http://www.ncbi.nlm.nih.gov/medgen/1841549	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007526	http://purl.obolibrary.org/obo/MONDO_0007526	NANDO:1201088
C0023418	MedGen UID:9725	Leukemia	http://www.ncbi.nlm.nih.gov/medgen/9725	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005059	http://purl.obolibrary.org/obo/MONDO_0005059	NANDO:2100002
C0024299	MedGen UID:44223	Lymphoma	http://www.ncbi.nlm.nih.gov/medgen/44223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005062	http://purl.obolibrary.org/obo/MONDO_0005062	NANDO:2100004
C0027726	MedGen UID:10308	Nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/10308	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005377	http://purl.obolibrary.org/obo/MONDO_0005377	NANDO:2100009
C0266464	MedGen UID:78605	Polymicrogyria	http://www.ncbi.nlm.nih.gov/medgen/78605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000087	http://purl.obolibrary.org/obo/MONDO_0000087	NANDO:1201071
C0268347	MedGen UID:82791	Ehlers-Danlos syndrome, periodontitis type	http://www.ncbi.nlm.nih.gov/medgen/82791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007527	http://purl.obolibrary.org/obo/MONDO_0007527	NANDO:1201091
C0348374	MedGen UID:87593	Malignant neoplasm of the central nervous system	http://www.ncbi.nlm.nih.gov/medgen/87593	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002714	http://purl.obolibrary.org/obo/MONDO_0002714	NANDO:2100007
C0432227	MedGen UID:96583	Brachyrachia (short spine dysplasia)	http://www.ncbi.nlm.nih.gov/medgen/96583	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007232	http://purl.obolibrary.org/obo/MONDO_0007232	NANDO:1201102
C3494506	MedGen UID:488447	Pseudohypoparathyroidism type I A	http://www.ncbi.nlm.nih.gov/medgen/488447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007078	http://purl.obolibrary.org/obo/MONDO_0007078	NANDO:1201075
C0042514	MedGen UID:12068	Ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/12068	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005477	http://purl.obolibrary.org/obo/MONDO_0005477	NANDO:2100049
C4303789	MedGen UID:929458	Ehlers-Danlos syndrome, cardiac valvular type	http://www.ncbi.nlm.nih.gov/medgen/929458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009159	http://purl.obolibrary.org/obo/MONDO_0009159	NANDO:1201086
C0019618	MedGen UID:6845	Histiocytosis	http://www.ncbi.nlm.nih.gov/medgen/6845	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002637	http://purl.obolibrary.org/obo/MONDO_0002637	NANDO:2100005
C0242666	MedGen UID:69229	Protein S deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/69229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002304	http://purl.obolibrary.org/obo/MONDO_0002304	NANDO:1201081
C0265280	MedGen UID:82698	Spondylometaphyseal dysplasia, Kozlowski type	http://www.ncbi.nlm.nih.gov/medgen/82698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008477	http://purl.obolibrary.org/obo/MONDO_0008477	NANDO:1201101
C0265281	MedGen UID:82699	Metatropic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82699	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007986	http://purl.obolibrary.org/obo/MONDO_0007986	NANDO:1201099
C1332206	MedGen UID:233965	Adult lymphoma	http://www.ncbi.nlm.nih.gov/medgen/233965	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003660	http://purl.obolibrary.org/obo/MONDO_0003660	NANDO:2100004
C1332977	MedGen UID:234132	Childhood leukemia	http://www.ncbi.nlm.nih.gov/medgen/234132	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004355	http://purl.obolibrary.org/obo/MONDO_0004355	NANDO:2100002
C1332979	MedGen UID:232062	Pediatric lymphoma	http://www.ncbi.nlm.nih.gov/medgen/232062	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003659	http://purl.obolibrary.org/obo/MONDO_0003659	NANDO:2100004
C1846058	MedGen UID:337496	Syndromic X-linked intellectual disability Lubs type	http://www.ncbi.nlm.nih.gov/medgen/337496	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	NANDO:1201095
C1847406	MedGen UID:335678	Familial digital arthropathy-brachydactyly	http://www.ncbi.nlm.nih.gov/medgen/335678	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011732	http://purl.obolibrary.org/obo/MONDO_0011732	NANDO:1201103
C1848201	MedGen UID:336288	Subcortical band heterotopia	http://www.ncbi.nlm.nih.gov/medgen/336288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020491	http://purl.obolibrary.org/obo/MONDO_0020491	NANDO:1201070
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:1201097
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:1201096
C0431375	MedGen UID:98463	Classic lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/98463	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015146	http://purl.obolibrary.org/obo/MONDO_0015146	NANDO:1201068
C0431375	MedGen UID:98463	Classic lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/98463	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015146	http://purl.obolibrary.org/obo/MONDO_0015146	NANDO:1201069
C0431376	MedGen UID:96562	Cobblestone lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/96562	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018869	http://purl.obolibrary.org/obo/MONDO_0018869	NANDO:1201072
C2932716	MedGen UID:420958	Pseudohypoparathyroidism type 1C	http://www.ncbi.nlm.nih.gov/medgen/420958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012911	http://purl.obolibrary.org/obo/MONDO_0012911	NANDO:1201077
C5243927	MedGen UID:1800807	Acid sphingomyelinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1800807	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100464	http://purl.obolibrary.org/obo/MONDO_0100464	NANDO:1201084
C0022661	MedGen UID:9637	Chronic renal failure syndrome	http://www.ncbi.nlm.nih.gov/medgen/9637	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024327	http://purl.obolibrary.org/obo/MONDO_0024327	NANDO:2100023
C0266484	MedGen UID:78606	Schizencephaly	http://www.ncbi.nlm.nih.gov/medgen/78606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	NANDO:1201073
C0268374	MedGen UID:82798	Junctional epidermolysis bullosa, non-Herlitz type	http://www.ncbi.nlm.nih.gov/medgen/82798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009180	http://purl.obolibrary.org/obo/MONDO_0009180	NANDO:1201066
C4082173	MedGen UID:901502	Porencephaly	http://www.ncbi.nlm.nih.gov/medgen/901502	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017410	http://purl.obolibrary.org/obo/MONDO_0017410	NANDO:1201074
C4225313	MedGen UID:907426	Bethlem myopathy 2	http://www.ncbi.nlm.nih.gov/medgen/907426	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0034022	http://purl.obolibrary.org/obo/MONDO_0034022	NANDO:1201090
C4693870	MedGen UID:1632001	Ehlers-Danlos syndrome, classic-like, 2	http://www.ncbi.nlm.nih.gov/medgen/1632001	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0054813	http://purl.obolibrary.org/obo/MONDO_0054813	NANDO:1201085
C0079683	MedGen UID:36328	Junctional epidermolysis bullosa gravis of Herlitz	http://www.ncbi.nlm.nih.gov/medgen/36328	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	NANDO:1201065
C0598221	MedGen UID:671121	Hereditary thrombophilia due to congenital protein C deficiency	http://www.ncbi.nlm.nih.gov/medgen/671121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019145	http://purl.obolibrary.org/obo/MONDO_0019145	NANDO:1201080
C1838657	MedGen UID:374020	Vitamin D hydroxylation-deficient rickets, type 1B	http://www.ncbi.nlm.nih.gov/medgen/374020	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010810	http://purl.obolibrary.org/obo/MONDO_0010810	NANDO:1201093
C1864100	MedGen UID:350343	Pseudohypoparathyroidism type 1B	http://www.ncbi.nlm.nih.gov/medgen/350343	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011301	http://purl.obolibrary.org/obo/MONDO_0011301	NANDO:1201076
C1866294	MedGen UID:356497	Ehlers-Danlos syndrome, musculocontractural type	http://www.ncbi.nlm.nih.gov/medgen/356497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011142	http://purl.obolibrary.org/obo/MONDO_0011142	NANDO:1201089
C1868720	MedGen UID:358387	Periventricular nodular heterotopia	http://www.ncbi.nlm.nih.gov/medgen/358387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020341	http://purl.obolibrary.org/obo/MONDO_0020341	NANDO:1201079
C5436733	MedGen UID:1725534	Vitamin D-dependent rickets, type 3	http://www.ncbi.nlm.nih.gov/medgen/1725534	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0033640	http://purl.obolibrary.org/obo/MONDO_0033640	NANDO:1201094
C0022541	MedGen UID:9618	Kearns-Sayre syndrome	http://www.ncbi.nlm.nih.gov/medgen/9618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	NANDO:1201064
C0265219	MedGen UID:78538	Miller Dieker syndrome	http://www.ncbi.nlm.nih.gov/medgen/78538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009532	http://purl.obolibrary.org/obo/MONDO_0009532	NANDO:1201083
C5680977	MedGen UID:1842686	TRPV4-related bone disorder	http://www.ncbi.nlm.nih.gov/medgen/1842686	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018240	http://purl.obolibrary.org/obo/MONDO_0018240	NANDO:1201098
CN263128	MedGen UID:946156	Brittle cornea syndrome	http://www.ncbi.nlm.nih.gov/medgen/946156	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009242	http://purl.obolibrary.org/obo/MONDO_0009242	NANDO:1201087
CN283242	MedGen UID:968221	Vitamin D-dependent rickets, type 1A	http://www.ncbi.nlm.nih.gov/medgen/968221	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020723	http://purl.obolibrary.org/obo/MONDO_0020723	NANDO:1201092
C0002880	MedGen UID:1918	Autoimmune hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020108	http://purl.obolibrary.org/obo/MONDO_0020108	NANDO:2100181
C0002881	MedGen UID:1919	Familial hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003689	http://purl.obolibrary.org/obo/MONDO_0003689	NANDO:2100183
C0007001	MedGen UID:2825	Inborn carbohydrate metabolic disorder	http://www.ncbi.nlm.nih.gov/medgen/2825	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019214	http://purl.obolibrary.org/obo/MONDO_0019214	NANDO:2100164
C0009326	MedGen UID:3157	Rheumatic disorder	http://www.ncbi.nlm.nih.gov/medgen/3157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005554	http://purl.obolibrary.org/obo/MONDO_0005554	NANDO:2100151
C0009782	MedGen UID:1098	Connective tissue disorder	http://www.ncbi.nlm.nih.gov/medgen/1098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003900	http://purl.obolibrary.org/obo/MONDO_0003900	NANDO:2100172
C0011848	MedGen UID:8349	Diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/8349	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004782	http://purl.obolibrary.org/obo/MONDO_0004782	NANDO:2100117
C0011849	MedGen UID:8350	Diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/8350	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005015	http://purl.obolibrary.org/obo/MONDO_0005015	NANDO:2100157
C0025521	MedGen UID:6323	Inborn errors of metabolism	http://www.ncbi.nlm.nih.gov/medgen/6323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019052	http://purl.obolibrary.org/obo/MONDO_0019052	NANDO:2100159
C0027662	MedGen UID:45036	Multiple endocrine neoplasia	http://www.ncbi.nlm.nih.gov/medgen/45036	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017169	http://purl.obolibrary.org/obo/MONDO_0017169	NANDO:2100148
C0027868	MedGen UID:10323	Neuromuscular disease	http://www.ncbi.nlm.nih.gov/medgen/10323	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019056	http://purl.obolibrary.org/obo/MONDO_0019056	NANDO:2100214
C0268634	MedGen UID:468968	Disorder of fatty acid metabolism	http://www.ncbi.nlm.nih.gov/medgen/468968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037858	http://purl.obolibrary.org/obo/MONDO_0037858	NANDO:2100162
C0398686	MedGen UID:585013	Inborn error of immunity	http://www.ncbi.nlm.nih.gov/medgen/585013	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003778	http://purl.obolibrary.org/obo/MONDO_0003778	NANDO:2100204
C1263739	MedGen UID:468982	Disorder of organic acid metabolism	http://www.ncbi.nlm.nih.gov/medgen/468982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045022	http://purl.obolibrary.org/obo/MONDO_0045022	NANDO:2100161
C0085078	MedGen UID:43098	Lysosomal storage disease	http://www.ncbi.nlm.nih.gov/medgen/43098	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002561	http://purl.obolibrary.org/obo/MONDO_0002561	NANDO:2100165
C0085215	MedGen UID:38820	Premature ovarian failure	http://www.ncbi.nlm.nih.gov/medgen/38820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005387	http://purl.obolibrary.org/obo/MONDO_0005387	NANDO:2100139
C0085409	MedGen UID:39042	Autoimmune polyendocrinopathy	http://www.ncbi.nlm.nih.gov/medgen/39042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017278	http://purl.obolibrary.org/obo/MONDO_0017278	NANDO:2100125
C0149670	MedGen UID:472889	Carbohydrate metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/472889	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037792	http://purl.obolibrary.org/obo/MONDO_0037792	NANDO:2100164
C3890737	MedGen UID:855741	Autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/855741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019751	http://purl.obolibrary.org/obo/MONDO_0019751	NANDO:2100156
C0034013	MedGen UID:18752	Precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/18752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000088	http://purl.obolibrary.org/obo/MONDO_0000088	NANDO:2100135
C0034902	MedGen UID:11154	Pure red-cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/11154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001705	http://purl.obolibrary.org/obo/MONDO_0001705	NANDO:2100177
C0282528	MedGen UID:129185	Peroxisomal disorder	http://www.ncbi.nlm.nih.gov/medgen/129185	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019053	http://purl.obolibrary.org/obo/MONDO_0019053	NANDO:2100166
C2711630	MedGen UID:751396	Combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/751396	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015131	http://purl.obolibrary.org/obo/MONDO_0015131	NANDO:2100203
C2930619	MedGen UID:415936	Disorder of sexual differentiation	http://www.ncbi.nlm.nih.gov/medgen/415936	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002145	http://purl.obolibrary.org/obo/MONDO_0002145	NANDO:2100140
C0014130	MedGen UID:4043	Disorder of endocrine system	http://www.ncbi.nlm.nih.gov/medgen/4043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005151	http://purl.obolibrary.org/obo/MONDO_0005151	NANDO:2100109
C0018817	MedGen UID:6753	Atrial septal defect	http://www.ncbi.nlm.nih.gov/medgen/6753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006664	http://purl.obolibrary.org/obo/MONDO_0006664	NANDO:2100085
C0018824	MedGen UID:5463	cardiac valvular disease	http://www.ncbi.nlm.nih.gov/medgen/5463	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002869	http://purl.obolibrary.org/obo/MONDO_0002869	NANDO:2100105
C0018939	MedGen UID:5483	Hematologic disorder	http://www.ncbi.nlm.nih.gov/medgen/5483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005570	http://purl.obolibrary.org/obo/MONDO_0005570	NANDO:2100175
C0020635	MedGen UID:9386	Hypopituitarism	http://www.ncbi.nlm.nih.gov/medgen/9386	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005152	http://purl.obolibrary.org/obo/MONDO_0005152	NANDO:2100110
C0020676	MedGen UID:6991	Hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/6991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005420	http://purl.obolibrary.org/obo/MONDO_0005420	NANDO:2100120
C0021051	MedGen UID:7034	Immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/7034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021094	http://purl.obolibrary.org/obo/MONDO_0021094	NANDO:2100204
C0021053	MedGen UID:5759	Immune system disorder	http://www.ncbi.nlm.nih.gov/medgen/5759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005046	http://purl.obolibrary.org/obo/MONDO_0005046	NANDO:2100202
C0265316	MedGen UID:82706	Neurocutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/82706	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042983	http://purl.obolibrary.org/obo/MONDO_0042983	NANDO:2100220
C0751651	MedGen UID:155901	Mitochondrial disease	http://www.ncbi.nlm.nih.gov/medgen/155901	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044970	http://purl.obolibrary.org/obo/MONDO_0044970	NANDO:2100163
C0857305	MedGen UID:208992	Thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/208992	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043768	http://purl.obolibrary.org/obo/MONDO_0043768	NANDO:2100188
C0857899	MedGen UID:208996	Decreased circulating aldosterone concentration	http://www.ncbi.nlm.nih.gov/medgen/208996	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015900	http://purl.obolibrary.org/obo/MONDO_0015900	NANDO:2100132
C1456275	MedGen UID:1778113	Inborn mitochondrial metabolism disorder	http://www.ncbi.nlm.nih.gov/medgen/1778113	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004069	http://purl.obolibrary.org/obo/MONDO_0004069	NANDO:2100163
CN199363	MedGen UID:799481	Progeroid syndrome	http://www.ncbi.nlm.nih.gov/medgen/799481	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015333	http://purl.obolibrary.org/obo/MONDO_0015333	NANDO:2100221
CN377664	MedGen UID:1052972	Amino acid metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/1052972	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0037871	http://purl.obolibrary.org/obo/MONDO_0037871	NANDO:2100160
C0005940	MedGen UID:14182	Disorder of bone	http://www.ncbi.nlm.nih.gov/medgen/14182	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005381	http://purl.obolibrary.org/obo/MONDO_0005381	NANDO:2100291
C0008626	MedGen UID:3441	Congenital chromosomal disease	http://www.ncbi.nlm.nih.gov/medgen/3441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019040	http://purl.obolibrary.org/obo/MONDO_0019040	NANDO:2100279
C0010278	MedGen UID:1163	Craniosynostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/1163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015469	http://purl.obolibrary.org/obo/MONDO_0015469	NANDO:2100227
C2931845	MedGen UID:444156	Neurodegeneration with brain iron accumulation	http://www.ncbi.nlm.nih.gov/medgen/444156	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018307	http://purl.obolibrary.org/obo/MONDO_0018307	NANDO:2100241
C0023440	MedGen UID:7316	Acute myeloid leukemia, M6 type	http://www.ncbi.nlm.nih.gov/medgen/7316	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017858	http://purl.obolibrary.org/obo/MONDO_0017858	NANDO:2200010
C0023462	MedGen UID:44124	Acute megakaryoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018872	http://purl.obolibrary.org/obo/MONDO_0018872	NANDO:2200011
C0023465	MedGen UID:7319	Acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/7319	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	NANDO:2200009
C0023465	MedGen UID:7319	Acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/7319	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007896	http://purl.obolibrary.org/obo/MONDO_0007896	NANDO:2200008
C0023487	MedGen UID:44127	Acute promyelocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44127	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012883	http://purl.obolibrary.org/obo/MONDO_0012883	NANDO:2200007
C0026998	MedGen UID:10232	Acute myeloblastic leukemia without maturation	http://www.ncbi.nlm.nih.gov/medgen/10232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005224	http://purl.obolibrary.org/obo/MONDO_0005224	NANDO:2200005
C0349639	MedGen UID:138109	Juvenile myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/138109	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	NANDO:2200015
C0349639	MedGen UID:138109	Juvenile myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/138109	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011908	http://purl.obolibrary.org/obo/MONDO_0011908	NANDO:2200014
C0522631	MedGen UID:101100	Acute myeloid leukemia with minimal differentiation	http://www.ncbi.nlm.nih.gov/medgen/101100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005223	http://purl.obolibrary.org/obo/MONDO_0005223	NANDO:2200004
C1260325	MedGen UID:220355	Follicular dendritic cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/220355	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005764	http://purl.obolibrary.org/obo/MONDO_0005764	NANDO:2200034
C1260326	MedGen UID:266040	Interdigitating dendritic cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/266040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005813	http://purl.obolibrary.org/obo/MONDO_0005813	NANDO:2200035
C3463824	MedGen UID:483005	Myelodysplastic syndrome	http://www.ncbi.nlm.nih.gov/medgen/483005	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018881	http://purl.obolibrary.org/obo/MONDO_0018881	NANDO:2200019
C3887558	MedGen UID:854411	Hemophagocytic syndrome	http://www.ncbi.nlm.nih.gov/medgen/854411	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015540	http://purl.obolibrary.org/obo/MONDO_0015540	NANDO:2200032
C3899655	MedGen UID:859249	Langerhans cell histiocytosis specific to childhood	http://www.ncbi.nlm.nih.gov/medgen/859249	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017025	http://purl.obolibrary.org/obo/MONDO_0017025	NANDO:2200031
C3900100	MedGen UID:859694	Langerhans cell histiocytosis specific to adulthood	http://www.ncbi.nlm.nih.gov/medgen/859694	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017029	http://purl.obolibrary.org/obo/MONDO_0017029	NANDO:2200031
C0037274	MedGen UID:20777	Skin disorder	http://www.ncbi.nlm.nih.gov/medgen/20777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005093	http://purl.obolibrary.org/obo/MONDO_0005093	NANDO:2100281
C0042373	MedGen UID:22621	Vascular disorder	http://www.ncbi.nlm.nih.gov/medgen/22621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005385	http://purl.obolibrary.org/obo/MONDO_0005385	NANDO:2100294
C0279543	MedGen UID:75993	Chronic myelogenous leukemia, BCR-ABL1 positive	http://www.ncbi.nlm.nih.gov/medgen/75993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011996	http://purl.obolibrary.org/obo/MONDO_0011996	NANDO:2200013
C0279584	MedGen UID:83526	B-cell childhood acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83526	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000872	http://purl.obolibrary.org/obo/MONDO_0000872	NANDO:2200002
C0280634	MedGen UID:128856	Adult acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/128856	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0000875	http://purl.obolibrary.org/obo/MONDO_0000875	NANDO:2200009
C0280634	MedGen UID:128856	Adult acute monocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/128856	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0000875	http://purl.obolibrary.org/obo/MONDO_0000875	NANDO:2200008
C0334108	MedGen UID:137722	Polyposis	http://www.ncbi.nlm.nih.gov/medgen/137722	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000147	http://purl.obolibrary.org/obo/MONDO_0000147	NANDO:2100257
C1961099	MedGen UID:368378	T-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/368378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004963	http://purl.obolibrary.org/obo/MONDO_0004963	NANDO:2200003
C0019621	MedGen UID:5568	Langerhans cell histiocytosis	http://www.ncbi.nlm.nih.gov/medgen/5568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018310	http://purl.obolibrary.org/obo/MONDO_0018310	NANDO:2200031
C0020981	MedGen UID:7025	Angioimmunoblastic T-cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/7025	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004977	http://purl.obolibrary.org/obo/MONDO_0004977	NANDO:2200029
C0021390	MedGen UID:43877	Inflammatory bowel disease	http://www.ncbi.nlm.nih.gov/medgen/43877	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005265	http://purl.obolibrary.org/obo/MONDO_0005265	NANDO:2100259
C0856562	MedGen UID:797407	Inherited ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/797407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015947	http://purl.obolibrary.org/obo/MONDO_0015947	NANDO:2100283
C1292777	MedGen UID:266235	Aggressive NK-cell leukemia	http://www.ncbi.nlm.nih.gov/medgen/266235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019470	http://purl.obolibrary.org/obo/MONDO_0019470	NANDO:2200012
C1301357	MedGen UID:226983	Acute leukemia of ambiguous lineage	http://www.ncbi.nlm.nih.gov/medgen/226983	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019460	http://purl.obolibrary.org/obo/MONDO_0019460	NANDO:2200017
C1301357	MedGen UID:226983	Acute leukemia of ambiguous lineage	http://www.ncbi.nlm.nih.gov/medgen/226983	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019460	http://purl.obolibrary.org/obo/MONDO_0019460	NANDO:2200018
CN228979	MedGen UID:833238	B-cell non-Hodgkin lymphoma	http://www.ncbi.nlm.nih.gov/medgen/833238	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015759	http://purl.obolibrary.org/obo/MONDO_0015759	NANDO:2200020
CN294497	MedGen UID:978369	Hodgkins lymphoma	http://www.ncbi.nlm.nih.gov/medgen/978369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004952	http://purl.obolibrary.org/obo/MONDO_0004952	NANDO:2200024
CN377655	MedGen UID:1052483	Peripheral T-cell lymphoma, not otherwise specified	http://www.ncbi.nlm.nih.gov/medgen/1052483	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004964	http://purl.obolibrary.org/obo/MONDO_0004964	NANDO:2200028
C0158570	MedGen UID:56387	Vascular malformation	http://www.ncbi.nlm.nih.gov/medgen/56387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024291	http://purl.obolibrary.org/obo/MONDO_0024291	NANDO:2100295
C0206180	MedGen UID:61533	Anaplastic large cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/61533	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020325	http://purl.obolibrary.org/obo/MONDO_0020325	NANDO:2200021
C2347761	MedGen UID:389541	Childhood myelodysplastic syndrome	http://www.ncbi.nlm.nih.gov/medgen/389541	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0044873	http://purl.obolibrary.org/obo/MONDO_0044873	NANDO:2200019
C0023480	MedGen UID:44125	Chronic myelomonocytic leukemia	http://www.ncbi.nlm.nih.gov/medgen/44125	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020311	http://purl.obolibrary.org/obo/MONDO_0020311	NANDO:2200014
C0026850	MedGen UID:44527	Muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/44527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020121	http://purl.obolibrary.org/obo/MONDO_0020121	NANDO:2100233
C0270960	MedGen UID:124381	Congenital myopathy	http://www.ncbi.nlm.nih.gov/medgen/124381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019952	http://purl.obolibrary.org/obo/MONDO_0019952	NANDO:2100234
C0349636	MedGen UID:83896	Precursor B-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83896	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020511	http://purl.obolibrary.org/obo/MONDO_0020511	NANDO:2200022
C0349636	MedGen UID:83896	Precursor B-cell acute lymphoblastic leukemia	http://www.ncbi.nlm.nih.gov/medgen/83896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020511	http://purl.obolibrary.org/obo/MONDO_0020511	NANDO:2200001
C0392788	MedGen UID:140278	Extranodal nasal NK/T cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/140278	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019472	http://purl.obolibrary.org/obo/MONDO_0019472	NANDO:2200027
C0522624	MedGen UID:99306	Subcutaneous panniculitis-like T-cell lymphoma	http://www.ncbi.nlm.nih.gov/medgen/99306	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019475	http://purl.obolibrary.org/obo/MONDO_0019475	NANDO:2200030
C0342844	MedGen UID:575248	Glycoprotein metabolism disease	http://www.ncbi.nlm.nih.gov/medgen/575248	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0045010	http://purl.obolibrary.org/obo/MONDO_0045010	NANDO:2100301
C0280141	MedGen UID:79081	Acute undifferentiated leukemia	http://www.ncbi.nlm.nih.gov/medgen/79081	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020321	http://purl.obolibrary.org/obo/MONDO_0020321	NANDO:2200017
C1879321	MedGen UID:361829	Acute myeloblastic leukemia with maturation	http://www.ncbi.nlm.nih.gov/medgen/361829	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020320	http://purl.obolibrary.org/obo/MONDO_0020320	NANDO:2200006
C2826025	MedGen UID:417342	Mixed phenotype acute leukemia	http://www.ncbi.nlm.nih.gov/medgen/417342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020743	http://purl.obolibrary.org/obo/MONDO_0020743	NANDO:2200018
C0751778	MedGen UID:199732	Progressive myoclonic epilepsy	http://www.ncbi.nlm.nih.gov/medgen/199732	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020074	http://purl.obolibrary.org/obo/MONDO_0020074	NANDO:2100237
C1292758	MedGen UID:266232	T-lymphoblastic lymphoma	http://www.ncbi.nlm.nih.gov/medgen/266232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044917	http://purl.obolibrary.org/obo/MONDO_0044917	NANDO:2200023
C0006264	MedGen UID:2735	Bronchial neoplasm	http://www.ncbi.nlm.nih.gov/medgen/2735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002807	http://purl.obolibrary.org/obo/MONDO_0002807	NANDO:2200081
C0007115	MedGen UID:2869	Malignant tumor of thyroid gland	http://www.ncbi.nlm.nih.gov/medgen/2869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002108	http://purl.obolibrary.org/obo/MONDO_0002108	NANDO:2200074
C0206651	MedGen UID:104909	Clear cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/104909	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002926	http://purl.obolibrary.org/obo/MONDO_0002926	NANDO:2200062
C0206743	MedGen UID:64646	Rhabdoid tumor	http://www.ncbi.nlm.nih.gov/medgen/64646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002728	http://purl.obolibrary.org/obo/MONDO_0002728	NANDO:2200057
C0221238	MedGen UID:66364	Mesangial proliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/66364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003139	http://purl.obolibrary.org/obo/MONDO_0003139	NANDO:2200122
C0027809	MedGen UID:45053	Schwannoma	http://www.ncbi.nlm.nih.gov/medgen/45053	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002546	http://purl.obolibrary.org/obo/MONDO_0002546	NANDO:2200103
C0948750	MedGen UID:215302	Salivary gland carcinoma	http://www.ncbi.nlm.nih.gov/medgen/215302	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000521	http://purl.obolibrary.org/obo/MONDO_0000521	NANDO:2200076
C1368910	MedGen UID:277967	Mature teratoma	http://www.ncbi.nlm.nih.gov/medgen/277967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003517	http://purl.obolibrary.org/obo/MONDO_0003517	NANDO:2200105
C3887678	MedGen UID:854517	Central primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/854517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000640	http://purl.obolibrary.org/obo/MONDO_0000640	NANDO:2200099
C0278510	MedGen UID:75829	Childhood medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/75829	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002797	http://purl.obolibrary.org/obo/MONDO_0002797	NANDO:2200090
C0278595	MedGen UID:75840	Adult fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/75840	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002676	http://purl.obolibrary.org/obo/MONDO_0002676	NANDO:2200060
C0278608	MedGen UID:75842	Adult liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/75842	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003585	http://purl.obolibrary.org/obo/MONDO_0003585	NANDO:2200065
C0278876	MedGen UID:78898	Adult medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/78898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002794	http://purl.obolibrary.org/obo/MONDO_0002794	NANDO:2200090
C0279070	MedGen UID:75924	Adult oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/75924	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002543	http://purl.obolibrary.org/obo/MONDO_0002543	NANDO:2200089
C0279981	MedGen UID:124685	Pediatric fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/124685	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002678	http://purl.obolibrary.org/obo/MONDO_0002678	NANDO:2200060
C0280475	MedGen UID:76116	Childhood oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/76116	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002540	http://purl.obolibrary.org/obo/MONDO_0002540	NANDO:2200089
C0280656	MedGen UID:79156	Pediatric meningioma	http://www.ncbi.nlm.nih.gov/medgen/79156	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003057	http://purl.obolibrary.org/obo/MONDO_0003057	NANDO:2200094
C0013377	MedGen UID:41680	Dysgerminoma	http://www.ncbi.nlm.nih.gov/medgen/41680	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003002	http://purl.obolibrary.org/obo/MONDO_0003002	NANDO:2200066
C0017662	MedGen UID:9033	Mesangiocapillary glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9033	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002461	http://purl.obolibrary.org/obo/MONDO_0002461	NANDO:2200123
C1332895	MedGen UID:234105	Central nervous system teratoma	http://www.ncbi.nlm.nih.gov/medgen/234105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002718	http://purl.obolibrary.org/obo/MONDO_0002718	NANDO:2200104
C1332986	MedGen UID:272464	Pediatric osteosarcoma	http://www.ncbi.nlm.nih.gov/medgen/272464	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002623	http://purl.obolibrary.org/obo/MONDO_0002623	NANDO:2200048
C0007134	MedGen UID:766	Renal cell carcinoma	http://www.ncbi.nlm.nih.gov/medgen/766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005086	http://purl.obolibrary.org/obo/MONDO_0005086	NANDO:2200045
C0008441	MedGen UID:40270	Chondroblastoma	http://www.ncbi.nlm.nih.gov/medgen/40270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004997	http://purl.obolibrary.org/obo/MONDO_0004997	NANDO:2200051
C0008479	MedGen UID:3054	Chondrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/3054	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008977	http://purl.obolibrary.org/obo/MONDO_0008977	NANDO:2200050
C0008487	MedGen UID:40277	Chordoma	http://www.ncbi.nlm.nih.gov/medgen/40277	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008978	http://purl.obolibrary.org/obo/MONDO_0008978	NANDO:2200098
C0008497	MedGen UID:40278	Choriocarcinoma	http://www.ncbi.nlm.nih.gov/medgen/40278	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005207	http://purl.obolibrary.org/obo/MONDO_0005207	NANDO:2200070
C0010276	MedGen UID:41339	Craniopharyngioma	http://www.ncbi.nlm.nih.gov/medgen/41339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018907	http://purl.obolibrary.org/obo/MONDO_0018907	NANDO:2200091
C0205770	MedGen UID:64439	Choroid plexus papilloma	http://www.ncbi.nlm.nih.gov/medgen/64439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009837	http://purl.obolibrary.org/obo/MONDO_0009837	NANDO:2200093
C0205969	MedGen UID:60049	Thymic carcinoma	http://www.ncbi.nlm.nih.gov/medgen/60049	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006451	http://purl.obolibrary.org/obo/MONDO_0006451	NANDO:2200079
C0206624	MedGen UID:61644	Hepatoblastoma	http://www.ncbi.nlm.nih.gov/medgen/61644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018666	http://purl.obolibrary.org/obo/MONDO_0018666	NANDO:2200046
C0206657	MedGen UID:61652	Alveolar soft part sarcoma	http://www.ncbi.nlm.nih.gov/medgen/61652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011655	http://purl.obolibrary.org/obo/MONDO_0011655	NANDO:2200063
C0206659	MedGen UID:61653	Embryonal carcinoma	http://www.ncbi.nlm.nih.gov/medgen/61653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005440	http://purl.obolibrary.org/obo/MONDO_0005440	NANDO:2200067
C0206686	MedGen UID:104917	Adrenal cortex carcinoma	http://www.ncbi.nlm.nih.gov/medgen/104917	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006639	http://purl.obolibrary.org/obo/MONDO_0006639	NANDO:2200073
C0206716	MedGen UID:60216	Ganglioglioma	http://www.ncbi.nlm.nih.gov/medgen/60216	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016733	http://purl.obolibrary.org/obo/MONDO_0016733	NANDO:2200096
C0206718	MedGen UID:60218	Ganglioneuroblastoma	http://www.ncbi.nlm.nih.gov/medgen/60218	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005035	http://purl.obolibrary.org/obo/MONDO_0005035	NANDO:2200041
C0206724	MedGen UID:104926	Sex cord-stromal tumor	http://www.ncbi.nlm.nih.gov/medgen/104926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006055	http://purl.obolibrary.org/obo/MONDO_0006055	NANDO:2200072
C2239176	MedGen UID:389187	Hepatocellular carcinoma	http://www.ncbi.nlm.nih.gov/medgen/389187	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007256	http://purl.obolibrary.org/obo/MONDO_0007256	NANDO:2200047
C5779630	MedGen UID:1830324	Gangliocytoma	http://www.ncbi.nlm.nih.gov/medgen/1830324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016730	http://purl.obolibrary.org/obo/MONDO_0016730	NANDO:2200097
C0023269	MedGen UID:9711	Leiomyosarcoma	http://www.ncbi.nlm.nih.gov/medgen/9711	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005058	http://purl.obolibrary.org/obo/MONDO_0005058	NANDO:2200064
C0023827	MedGen UID:44177	Liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/44177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005060	http://purl.obolibrary.org/obo/MONDO_0005060	NANDO:2200065
C0025149	MedGen UID:7517	Medulloblastoma	http://www.ncbi.nlm.nih.gov/medgen/7517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007959	http://purl.obolibrary.org/obo/MONDO_0007959	NANDO:2200090
C0025202	MedGen UID:9944	Melanoma	http://www.ncbi.nlm.nih.gov/medgen/9944	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005105	http://purl.obolibrary.org/obo/MONDO_0005105	NANDO:2200077
C0025286	MedGen UID:7532	Meningioma	http://www.ncbi.nlm.nih.gov/medgen/7532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016642	http://purl.obolibrary.org/obo/MONDO_0016642	NANDO:2200094
C0027721	MedGen UID:10307	Lipoid nephrosis	http://www.ncbi.nlm.nih.gov/medgen/10307	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006835	http://purl.obolibrary.org/obo/MONDO_0006835	NANDO:2200112
C0027819	MedGen UID:18012	Neuroblastoma	http://www.ncbi.nlm.nih.gov/medgen/18012	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005072	http://purl.obolibrary.org/obo/MONDO_0005072	NANDO:2200040
C0028945	MedGen UID:45190	Oligodendroglioma	http://www.ncbi.nlm.nih.gov/medgen/45190	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016695	http://purl.obolibrary.org/obo/MONDO_0016695	NANDO:2200089
C0029463	MedGen UID:10501	Osteosarcoma	http://www.ncbi.nlm.nih.gov/medgen/10501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009807	http://purl.obolibrary.org/obo/MONDO_0009807	NANDO:2200048
C0403399	MedGen UID:98011	Finnish congenital nephrotic syndrome	http://www.ncbi.nlm.nih.gov/medgen/98011	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009732	http://purl.obolibrary.org/obo/MONDO_0009732	NANDO:2200110
C0549473	MedGen UID:107811	Thyroid gland carcinoma	http://www.ncbi.nlm.nih.gov/medgen/107811	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015075	http://purl.obolibrary.org/obo/MONDO_0015075	NANDO:2200074
C0553580	MedGen UID:107816	Ewing sarcoma	http://www.ncbi.nlm.nih.gov/medgen/107816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012817	http://purl.obolibrary.org/obo/MONDO_0012817	NANDO:2200053
C0917890	MedGen UID:183004	Pineocytoma	http://www.ncbi.nlm.nih.gov/medgen/183004	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016723	http://purl.obolibrary.org/obo/MONDO_0016723	NANDO:2200092
C0950121	MedGen UID:181980	Drash syndrome	http://www.ncbi.nlm.nih.gov/medgen/181980	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008682	http://purl.obolibrary.org/obo/MONDO_0008682	NANDO:2200116
C1260327	MedGen UID:266041	Langerhans cell sarcoma	http://www.ncbi.nlm.nih.gov/medgen/266041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019480	http://purl.obolibrary.org/obo/MONDO_0019480	NANDO:2200036
C1266144	MedGen UID:266105	Pleuropulmonary blastoma	http://www.ncbi.nlm.nih.gov/medgen/266105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011014	http://purl.obolibrary.org/obo/MONDO_0011014	NANDO:2200080
C1266184	MedGen UID:226853	Atypical teratoid rhabdoid tumor	http://www.ncbi.nlm.nih.gov/medgen/226853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020560	http://purl.obolibrary.org/obo/MONDO_0020560	NANDO:2200101
C0334488	MedGen UID:90791	Clear cell sarcoma of kidney	http://www.ncbi.nlm.nih.gov/medgen/90791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005006	http://purl.obolibrary.org/obo/MONDO_0005006	NANDO:2200044
C0334489	MedGen UID:87250	Pancreatoblastoma	http://www.ncbi.nlm.nih.gov/medgen/87250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019035	http://purl.obolibrary.org/obo/MONDO_0019035	NANDO:2200082
C0334518	MedGen UID:83160	Polyembryoma	http://www.ncbi.nlm.nih.gov/medgen/83160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015863	http://purl.obolibrary.org/obo/MONDO_0015863	NANDO:2200068
C0334520	MedGen UID:90798	Immature teratoma	http://www.ncbi.nlm.nih.gov/medgen/90798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024746	http://purl.obolibrary.org/obo/MONDO_0024746	NANDO:2200106
C0334523	MedGen UID:87256	Teratoma with malignant transformation	http://www.ncbi.nlm.nih.gov/medgen/87256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006444	http://purl.obolibrary.org/obo/MONDO_0006444	NANDO:2200107
C0334524	MedGen UID:87257	Mixed germ cell tumor	http://www.ncbi.nlm.nih.gov/medgen/87257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015864	http://purl.obolibrary.org/obo/MONDO_0015864	NANDO:2200071
C0334552	MedGen UID:87263	Malignancy in giant cell tumor of bone	http://www.ncbi.nlm.nih.gov/medgen/87263	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006287	http://purl.obolibrary.org/obo/MONDO_0006287	NANDO:2200052
C0334579	MedGen UID:137784	Astrocytoma, anaplastic	http://www.ncbi.nlm.nih.gov/medgen/137784	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016684	http://purl.obolibrary.org/obo/MONDO_0016684	NANDO:2200086
C0334583	MedGen UID:87271	Pilocytic astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/87271	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016691	http://purl.obolibrary.org/obo/MONDO_0016691	NANDO:2200084
C0684337	MedGen UID:151926	Peripheral primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/151926	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018271	http://purl.obolibrary.org/obo/MONDO_0018271	NANDO:2200054
C0684337	MedGen UID:151926	Peripheral primitive neuroectodermal tumor	http://www.ncbi.nlm.nih.gov/medgen/151926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018271	http://purl.obolibrary.org/obo/MONDO_0018271	NANDO:2200055
C1377598	MedGen UID:277987	Childhood germ cell brain tumor	http://www.ncbi.nlm.nih.gov/medgen/277987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004218	http://purl.obolibrary.org/obo/MONDO_0004218	NANDO:2200108
C1836876	MedGen UID:373199	Pierson syndrome	http://www.ncbi.nlm.nih.gov/medgen/373199	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012184	http://purl.obolibrary.org/obo/MONDO_0012184	NANDO:2200117
C1839543	MedGen UID:374250	Central nervous system malformation	http://www.ncbi.nlm.nih.gov/medgen/374250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020022	http://purl.obolibrary.org/obo/MONDO_0020022	NANDO:2200118
C4551683	MedGen UID:1636437	Adrenal pheochromocytoma	http://www.ncbi.nlm.nih.gov/medgen/1636437	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004974	http://purl.obolibrary.org/obo/MONDO_0004974	NANDO:2200078
C0032000	MedGen UID:45933	Pituitary adenoma	http://www.ncbi.nlm.nih.gov/medgen/45933	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006373	http://purl.obolibrary.org/obo/MONDO_0006373	NANDO:2200095
C0035335	MedGen UID:20552	Retinoblastoma	http://www.ncbi.nlm.nih.gov/medgen/20552	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008380	http://purl.obolibrary.org/obo/MONDO_0008380	NANDO:2200042
C0035412	MedGen UID:20561	Rhabdomyosarcoma	http://www.ncbi.nlm.nih.gov/medgen/20561	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005212	http://purl.obolibrary.org/obo/MONDO_0005212	NANDO:2200056
C0039101	MedGen UID:21050	Synovial sarcoma	http://www.ncbi.nlm.nih.gov/medgen/21050	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010434	http://purl.obolibrary.org/obo/MONDO_0010434	NANDO:2200061
C0043324	MedGen UID:12179	Juvenile xanthogranuloma	http://www.ncbi.nlm.nih.gov/medgen/12179	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015534	http://purl.obolibrary.org/obo/MONDO_0015534	NANDO:2200037
C0278878	MedGen UID:124527	Adult glioblastoma	http://www.ncbi.nlm.nih.gov/medgen/124527	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020690	http://purl.obolibrary.org/obo/MONDO_0020690	NANDO:2200087
C0279984	MedGen UID:83580	Pediatric liposarcoma	http://www.ncbi.nlm.nih.gov/medgen/83580	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003587	http://purl.obolibrary.org/obo/MONDO_0003587	NANDO:2200065
C0280785	MedGen UID:83708	Diffuse astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/83708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016686	http://purl.obolibrary.org/obo/MONDO_0016686	NANDO:2200085
C0281508	MedGen UID:83833	Desmoplastic small round cell tumor	http://www.ncbi.nlm.nih.gov/medgen/83833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019373	http://purl.obolibrary.org/obo/MONDO_0019373	NANDO:2200059
C0014084	MedGen UID:41775	Enchondromatosis	http://www.ncbi.nlm.nih.gov/medgen/41775	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	NANDO:2200049
C0014145	MedGen UID:41782	Yolk sac tumor	http://www.ncbi.nlm.nih.gov/medgen/41782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005744	http://purl.obolibrary.org/obo/MONDO_0005744	NANDO:2200069
C0014474	MedGen UID:41825	Ependymoma	http://www.ncbi.nlm.nih.gov/medgen/41825	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016698	http://purl.obolibrary.org/obo/MONDO_0016698	NANDO:2200088
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2200049
C0016057	MedGen UID:5178	Fibrosarcoma	http://www.ncbi.nlm.nih.gov/medgen/5178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005164	http://purl.obolibrary.org/obo/MONDO_0005164	NANDO:2200060
C0017636	MedGen UID:42228	Glioblastoma	http://www.ncbi.nlm.nih.gov/medgen/42228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018177	http://purl.obolibrary.org/obo/MONDO_0018177	NANDO:2200087
C0017661	MedGen UID:9032	IgA glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/9032	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005342	http://purl.obolibrary.org/obo/MONDO_0005342	NANDO:2200121
C0017665	MedGen UID:42231	Membranous nephropathy	http://www.ncbi.nlm.nih.gov/medgen/42231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005376	http://purl.obolibrary.org/obo/MONDO_0005376	NANDO:2200114
C0019625	MedGen UID:9266	Sinus histiocytosis with massive lymphadenopathy	http://www.ncbi.nlm.nih.gov/medgen/9266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006412	http://purl.obolibrary.org/obo/MONDO_0006412	NANDO:2200039
C0751690	MedGen UID:155614	Malignant peripheral nerve sheath tumor	http://www.ncbi.nlm.nih.gov/medgen/155614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017827	http://purl.obolibrary.org/obo/MONDO_0017827	NANDO:2200102
C0855073	MedGen UID:163512	Undifferentiated (embryonal) sarcoma	http://www.ncbi.nlm.nih.gov/medgen/163512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005102	http://purl.obolibrary.org/obo/MONDO_0005102	NANDO:2200058
C0878675	MedGen UID:163902	Erdheim-Chester disease	http://www.ncbi.nlm.nih.gov/medgen/163902	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018153	http://purl.obolibrary.org/obo/MONDO_0018153	NANDO:2200038
C1332993	MedGen UID:234136	Childhood ovarian yolk sac tumor	http://www.ncbi.nlm.nih.gov/medgen/234136	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003759	http://purl.obolibrary.org/obo/MONDO_0003759	NANDO:2200069
C1332995	MedGen UID:232355	Childhood pilocytic astrocytoma	http://www.ncbi.nlm.nih.gov/medgen/232355	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0004000	http://purl.obolibrary.org/obo/MONDO_0004000	NANDO:2200084
CN304703	MedGen UID:988496	Primary membranoproliferative glomerulonephritis	http://www.ncbi.nlm.nih.gov/medgen/988496	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018904	http://purl.obolibrary.org/obo/MONDO_0018904	NANDO:2200123
CN305775	MedGen UID:989515	Kidney Wilms tumor	http://www.ncbi.nlm.nih.gov/medgen/989515	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019004	http://purl.obolibrary.org/obo/MONDO_0019004	NANDO:2200043
CN327126	MedGen UID:1008296	Inherited focal segmental glomerulosclerosis	http://www.ncbi.nlm.nih.gov/medgen/1008296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005363	http://purl.obolibrary.org/obo/MONDO_0005363	NANDO:2200113
CN375949	MedGen UID:1052115	Renal cell adenocarcinoma	http://www.ncbi.nlm.nih.gov/medgen/1052115	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005549	http://purl.obolibrary.org/obo/MONDO_0005549	NANDO:2200045
C1567741	MedGen UID:339209	Alport syndrome	http://www.ncbi.nlm.nih.gov/medgen/339209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018965	http://purl.obolibrary.org/obo/MONDO_0018965	NANDO:2200126
C0001126	MedGen UID:90	Renal tubular acidosis	http://www.ncbi.nlm.nih.gov/medgen/90	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001909	http://purl.obolibrary.org/obo/MONDO_0001909	NANDO:2200144
C0002726	MedGen UID:272	Amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/272	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019065	http://purl.obolibrary.org/obo/MONDO_0019065	NANDO:2200138
C0004775	MedGen UID:2172	Bartter syndrome	http://www.ncbi.nlm.nih.gov/medgen/2172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015231	http://purl.obolibrary.org/obo/MONDO_0015231	NANDO:2200146
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:2200204
C2673196	MedGen UID:382034	Lipoprotein glomerulopathy	http://www.ncbi.nlm.nih.gov/medgen/382034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012725	http://purl.obolibrary.org/obo/MONDO_0012725	NANDO:2200134
C2931788	MedGen UID:444141	Atypical hemolytic-uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/444141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016244	http://purl.obolibrary.org/obo/MONDO_0016244	NANDO:2200131
C0022680	MedGen UID:9639	Polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/9639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020642	http://purl.obolibrary.org/obo/MONDO_0020642	NANDO:2200152
C0024143	MedGen UID:6147	Lupus nephritis	http://www.ncbi.nlm.nih.gov/medgen/6147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005556	http://purl.obolibrary.org/obo/MONDO_0005556	NANDO:2200128
C0027341	MedGen UID:10257	Nail-patella syndrome	http://www.ncbi.nlm.nih.gov/medgen/10257	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008061	http://purl.obolibrary.org/obo/MONDO_0008061	NANDO:2200132
C0266295	MedGen UID:120571	Renal hypoplasia	http://www.ncbi.nlm.nih.gov/medgen/120571	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019637	http://purl.obolibrary.org/obo/MONDO_0019637	NANDO:2200155
C0268113	MedGen UID:75651	Familial juvenile gout	http://www.ncbi.nlm.nih.gov/medgen/75651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000608	http://purl.obolibrary.org/obo/MONDO_0000608	NANDO:2200139
C0268389	MedGen UID:82799	Familial visceral amyloidosis, Ostertag type	http://www.ncbi.nlm.nih.gov/medgen/82799	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007099	http://purl.obolibrary.org/obo/MONDO_0007099	NANDO:2200138
C0268450	MedGen UID:75681	Familial hypokalemia-hypomagnesemia	http://www.ncbi.nlm.nih.gov/medgen/75681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009904	http://purl.obolibrary.org/obo/MONDO_0009904	NANDO:2200145
C0396051	MedGen UID:97973	Congenital subglottic stenosis	http://www.ncbi.nlm.nih.gov/medgen/97973	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015395	http://purl.obolibrary.org/obo/MONDO_0015395	NANDO:2200190
C0403529	MedGen UID:140788	Anti-glomerular basement membrane disease	http://www.ncbi.nlm.nih.gov/medgen/140788	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009303	http://purl.obolibrary.org/obo/MONDO_0009303	NANDO:2200125
C1855681	MedGen UID:343406	Nephronophthisis 1	http://www.ncbi.nlm.nih.gov/medgen/343406	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009728	http://purl.obolibrary.org/obo/MONDO_0009728	NANDO:2200140
C0085413	MedGen UID:88404	Autosomal dominant polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/88404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004691	http://purl.obolibrary.org/obo/MONDO_0004691	NANDO:2200153
C0085548	MedGen UID:39076	Autosomal recessive polycystic kidney disease	http://www.ncbi.nlm.nih.gov/medgen/39076	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009889	http://purl.obolibrary.org/obo/MONDO_0009889	NANDO:2200154
C0085697	MedGen UID:39090	Chronic pyelonephritis	http://www.ncbi.nlm.nih.gov/medgen/39090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001110	http://purl.obolibrary.org/obo/MONDO_0001110	NANDO:2200137
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:2200140
C0687120	MedGen UID:146912	Nephronophthisis	http://www.ncbi.nlm.nih.gov/medgen/146912	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019005	http://purl.obolibrary.org/obo/MONDO_0019005	NANDO:2200170
C3888104	MedGen UID:854773	Fibronectin glomerulopathy	http://www.ncbi.nlm.nih.gov/medgen/854773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007671	http://purl.obolibrary.org/obo/MONDO_0007671	NANDO:2200133
C0041349	MedGen UID:11952	Interstitial nephritis	http://www.ncbi.nlm.nih.gov/medgen/11952	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001085	http://purl.obolibrary.org/obo/MONDO_0001085	NANDO:2200136
C0020544	MedGen UID:5700	Renal hypertension	http://www.ncbi.nlm.nih.gov/medgen/5700	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001105	http://purl.obolibrary.org/obo/MONDO_0001105	NANDO:2200141
C0020545	MedGen UID:43786	Renovascular hypertension	http://www.ncbi.nlm.nih.gov/medgen/43786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006947	http://purl.obolibrary.org/obo/MONDO_0006947	NANDO:2200141
C0265756	MedGen UID:78572	Laryngeal atresia	http://www.ncbi.nlm.nih.gov/medgen/78572	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007879	http://purl.obolibrary.org/obo/MONDO_0007879	NANDO:2200190
C0006267	MedGen UID:14234	Bronchiectasis	http://www.ncbi.nlm.nih.gov/medgen/14234	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004822	http://purl.obolibrary.org/obo/MONDO_0004822	NANDO:2200206
C0006272	MedGen UID:665	Bronchiolitis obliterans with obstructive pulmonary disease	http://www.ncbi.nlm.nih.gov/medgen/665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015265	http://purl.obolibrary.org/obo/MONDO_0015265	NANDO:2200209
C0008780	MedGen UID:3467	Primary ciliary dyskinesia	http://www.ncbi.nlm.nih.gov/medgen/3467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016575	http://purl.obolibrary.org/obo/MONDO_0016575	NANDO:2200203
C0010674	MedGen UID:41393	Cystic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/41393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009061	http://purl.obolibrary.org/obo/MONDO_0009061	NANDO:2200205
C0155700	MedGen UID:102340	Mobitz II atrioventricular block	http://www.ncbi.nlm.nih.gov/medgen/102340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001261	http://purl.obolibrary.org/obo/MONDO_0001261	NANDO:2200213
C0155912	MedGen UID:56374	PULMONARY ALVEOLAR MICROLITHIASIS	http://www.ncbi.nlm.nih.gov/medgen/56374	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009928	http://purl.obolibrary.org/obo/MONDO_0009928	NANDO:2200202
C0178426	MedGen UID:472617	Potter sequence	http://www.ncbi.nlm.nih.gov/medgen/472617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001558	http://purl.obolibrary.org/obo/MONDO_0001558	NANDO:2200157
C0178879	MedGen UID:64247	Urinary tract obstruction	http://www.ncbi.nlm.nih.gov/medgen/64247	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003330	http://purl.obolibrary.org/obo/MONDO_0003330	NANDO:2200178
C2350236	MedGen UID:389939	Idiopathic interstitial pneumonia	http://www.ncbi.nlm.nih.gov/medgen/389939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002429	http://purl.obolibrary.org/obo/MONDO_0002429	NANDO:2200199
C0022681	MedGen UID:5970	Medullary sponge kidney	http://www.ncbi.nlm.nih.gov/medgen/5970	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015268	http://purl.obolibrary.org/obo/MONDO_0015268	NANDO:2200173
C0028860	MedGen UID:18145	Lowe syndrome	http://www.ncbi.nlm.nih.gov/medgen/18145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	NANDO:2200188
C0266316	MedGen UID:78594	Congenital hydronephrosis	http://www.ncbi.nlm.nih.gov/medgen/78594	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007741	http://purl.obolibrary.org/obo/MONDO_0007741	NANDO:2200176
C0431694	MedGen UID:609100	Oligomeganephronia	http://www.ncbi.nlm.nih.gov/medgen/609100	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016407	http://purl.obolibrary.org/obo/MONDO_0016407	NANDO:2200159
C0431719	MedGen UID:609113	Multiloculated renal cyst	http://www.ncbi.nlm.nih.gov/medgen/609113	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019983	http://purl.obolibrary.org/obo/MONDO_0019983	NANDO:2200171
C0542519	MedGen UID:154237	Renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/154237	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018470	http://purl.obolibrary.org/obo/MONDO_0018470	NANDO:2200156
C0948187	MedGen UID:215296	Tracheomalacia	http://www.ncbi.nlm.nih.gov/medgen/215296	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019804	http://purl.obolibrary.org/obo/MONDO_0019804	NANDO:2200195
C3536714	MedGen UID:760690	Renal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/760690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019638	http://purl.obolibrary.org/obo/MONDO_0019638	NANDO:2200161
C3711368	MedGen UID:777976	Hereditary pulmonary alveolar proteinosis	http://www.ncbi.nlm.nih.gov/medgen/777976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012580	http://purl.obolibrary.org/obo/MONDO_0012580	NANDO:2200200
C3714581	MedGen UID:811388	Multicystic kidney dysplasia	http://www.ncbi.nlm.nih.gov/medgen/811388	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015988	http://purl.obolibrary.org/obo/MONDO_0015988	NANDO:2200158
C4273898	MedGen UID:903364	Congenital primary megaureter	http://www.ncbi.nlm.nih.gov/medgen/903364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018960	http://purl.obolibrary.org/obo/MONDO_0018960	NANDO:2200184
C3887499	MedGen UID:854361	Renal cyst	http://www.ncbi.nlm.nih.gov/medgen/854361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002473	http://purl.obolibrary.org/obo/MONDO_0002473	NANDO:2200172
C0033770	MedGen UID:18718	Prune belly syndrome	http://www.ncbi.nlm.nih.gov/medgen/18718	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007032	http://purl.obolibrary.org/obo/MONDO_0007032	NANDO:2200185
C0037052	MedGen UID:20749	Sick sinus syndrome	http://www.ncbi.nlm.nih.gov/medgen/20749	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001823	http://purl.obolibrary.org/obo/MONDO_0001823	NANDO:2200212
C0040583	MedGen UID:21227	Tracheal stenosis	http://www.ncbi.nlm.nih.gov/medgen/21227	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002568	http://purl.obolibrary.org/obo/MONDO_0002568	NANDO:2200194
C0041960	MedGen UID:21778	Ureterocele	http://www.ncbi.nlm.nih.gov/medgen/21778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008628	http://purl.obolibrary.org/obo/MONDO_0008628	NANDO:2200183
C0042580	MedGen UID:21852	Vesicoureteral reflux	http://www.ncbi.nlm.nih.gov/medgen/21852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006007	http://purl.obolibrary.org/obo/MONDO_0006007	NANDO:2200179
C1869116	MedGen UID:358271	Inherited susceptibility to asthma	http://www.ncbi.nlm.nih.gov/medgen/358271	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010940	http://purl.obolibrary.org/obo/MONDO_0010940	NANDO:2200197
C5545379	MedGen UID:1782490	Congenital megacalycosis	http://www.ncbi.nlm.nih.gov/medgen/1782490	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019639	http://purl.obolibrary.org/obo/MONDO_0019639	NANDO:2200177
C0015624	MedGen UID:4653	Fanconi syndrome	http://www.ncbi.nlm.nih.gov/medgen/4653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001083	http://purl.obolibrary.org/obo/MONDO_0001083	NANDO:2200187
C0020807	MedGen UID:9403	Idiopathic pulmonary hemosiderosis	http://www.ncbi.nlm.nih.gov/medgen/9403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008346	http://purl.obolibrary.org/obo/MONDO_0008346	NANDO:2200207
C0235833	MedGen UID:68625	Congenital diaphragmatic hernia	http://www.ncbi.nlm.nih.gov/medgen/68625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005711	http://purl.obolibrary.org/obo/MONDO_0005711	NANDO:2200210
C1735886	MedGen UID:760471	Anomalous origin of left coronary artery from the pulmonary artery	http://www.ncbi.nlm.nih.gov/medgen/760471	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000811	http://purl.obolibrary.org/obo/MONDO_0000811	NANDO:2200242
C0003486	MedGen UID:362	Aortic aneurysm	http://www.ncbi.nlm.nih.gov/medgen/362	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005160	http://purl.obolibrary.org/obo/MONDO_0005160	NANDO:2200294
C0003492	MedGen UID:1617	Coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/1617	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	NANDO:2200284
C0003492	MedGen UID:1617	Coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/1617	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007345	http://purl.obolibrary.org/obo/MONDO_0007345	NANDO:2200283
C0003499	MedGen UID:2001	Supravalvar aortic stenosis	http://www.ncbi.nlm.nih.gov/medgen/2001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008504	http://purl.obolibrary.org/obo/MONDO_0008504	NANDO:2200285
C0004238	MedGen UID:445	Atrial fibrillation	http://www.ncbi.nlm.nih.gov/medgen/445	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004981	http://purl.obolibrary.org/obo/MONDO_0004981	NANDO:2200226
C0004239	MedGen UID:13955	Atrial flutter	http://www.ncbi.nlm.nih.gov/medgen/13955	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005310	http://purl.obolibrary.org/obo/MONDO_0005310	NANDO:2200218
C0004239	MedGen UID:13955	Atrial flutter	http://www.ncbi.nlm.nih.gov/medgen/13955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005310	http://purl.obolibrary.org/obo/MONDO_0005310	NANDO:2200225
C0007193	MedGen UID:2880	Primary dilated cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2880	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005021	http://purl.obolibrary.org/obo/MONDO_0005021	NANDO:2200232
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:2200229
C0007196	MedGen UID:40111	Restrictive cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/40111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005201	http://purl.obolibrary.org/obo/MONDO_0005201	NANDO:2200233
C0175702	MedGen UID:59799	Williams syndrome	http://www.ncbi.nlm.nih.gov/medgen/59799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008678	http://purl.obolibrary.org/obo/MONDO_0008678	NANDO:2200286
C0023976	MedGen UID:44193	Long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/44193	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002442	http://purl.obolibrary.org/obo/MONDO_0002442	NANDO:2200228
C0027051	MedGen UID:10150	Myocardial infarction	http://www.ncbi.nlm.nih.gov/medgen/10150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005068	http://purl.obolibrary.org/obo/MONDO_0005068	NANDO:2200248
C0031048	MedGen UID:18378	Constrictive pericarditis	http://www.ncbi.nlm.nih.gov/medgen/18378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006711	http://purl.obolibrary.org/obo/MONDO_0006711	NANDO:2200239
C0546959	MedGen UID:107485	atrial tachycardia	http://www.ncbi.nlm.nih.gov/medgen/107485	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005479	http://purl.obolibrary.org/obo/MONDO_0005479	NANDO:2200218
C0151517	MedGen UID:56230	Third degree atrioventricular block	http://www.ncbi.nlm.nih.gov/medgen/56230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000468	http://purl.obolibrary.org/obo/MONDO_0000468	NANDO:2200214
C0152101	MedGen UID:57746	Hypoplastic left heart syndrome	http://www.ncbi.nlm.nih.gov/medgen/57746	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004933	http://purl.obolibrary.org/obo/MONDO_0004933	NANDO:2200249
C0340375	MedGen UID:90950	Subvalvular aortic stenosis	http://www.ncbi.nlm.nih.gov/medgen/90950	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006987	http://purl.obolibrary.org/obo/MONDO_0006987	NANDO:2200277
C0344976	MedGen UID:87492	Pulmonary atresia with ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/87492	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008343	http://purl.obolibrary.org/obo/MONDO_0008343	NANDO:2200252
C4551903	MedGen UID:1648157	Congenital total pulmonary venous return anomaly	http://www.ncbi.nlm.nih.gov/medgen/1648157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007130	http://purl.obolibrary.org/obo/MONDO_0007130	NANDO:2200271
C0034084	MedGen UID:11030	Pulmonary subvalvular stenosis	http://www.ncbi.nlm.nih.gov/medgen/11030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006935	http://purl.obolibrary.org/obo/MONDO_0006935	NANDO:2200276
C0039685	MedGen UID:21498	Tetralogy of Fallot	http://www.ncbi.nlm.nih.gov/medgen/21498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008542	http://purl.obolibrary.org/obo/MONDO_0008542	NANDO:2200254
C0040761	MedGen UID:21245	Transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/21245	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000153	http://purl.obolibrary.org/obo/MONDO_0000153	NANDO:2200258
C0040961	MedGen UID:11911	Tricuspid regurgitation	http://www.ncbi.nlm.nih.gov/medgen/11911	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002870	http://purl.obolibrary.org/obo/MONDO_0002870	NANDO:2200301
C0040963	MedGen UID:21678	Tricuspid stenosis	http://www.ncbi.nlm.nih.gov/medgen/21678	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005997	http://purl.obolibrary.org/obo/MONDO_0005997	NANDO:2200300
C0042510	MedGen UID:21844	Ventricular fibrillation	http://www.ncbi.nlm.nih.gov/medgen/21844	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000190	http://purl.obolibrary.org/obo/MONDO_0000190	NANDO:2200227
C0043202	MedGen UID:12162	Wolff-Parkinson-White pattern	http://www.ncbi.nlm.nih.gov/medgen/12162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008685	http://purl.obolibrary.org/obo/MONDO_0008685	NANDO:2200217
C0018789	MedGen UID:42360	Heart aneurysm	http://www.ncbi.nlm.nih.gov/medgen/42360	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006779	http://purl.obolibrary.org/obo/MONDO_0006779	NANDO:2200234
C0018818	MedGen UID:42366	Ventricular septal defect	http://www.ncbi.nlm.nih.gov/medgen/42366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002070	http://purl.obolibrary.org/obo/MONDO_0002070	NANDO:2200270
C0238074	MedGen UID:116042	Chronic pulmonary heart disease	http://www.ncbi.nlm.nih.gov/medgen/116042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001493	http://purl.obolibrary.org/obo/MONDO_0001493	NANDO:2200299
C0242231	MedGen UID:66859	Coronary artery stenosis	http://www.ncbi.nlm.nih.gov/medgen/66859	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006715	http://purl.obolibrary.org/obo/MONDO_0006715	NANDO:2200246
C0003516	MedGen UID:365	Aortopulmonary window	http://www.ncbi.nlm.nih.gov/medgen/365	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021902	http://purl.obolibrary.org/obo/MONDO_0021902	NANDO:2200262
C0009995	MedGen UID:3238	Triatrial heart	http://www.ncbi.nlm.nih.gov/medgen/3238	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015450	http://purl.obolibrary.org/obo/MONDO_0015450	NANDO:2200263
C0158634	MedGen UID:450995	Partial anomalous pulmonary venous return	http://www.ncbi.nlm.nih.gov/medgen/450995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020453	http://purl.obolibrary.org/obo/MONDO_0020453	NANDO:2200272
C0221215	MedGen UID:65132	Complete atrioventricular canal	http://www.ncbi.nlm.nih.gov/medgen/65132	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015273	http://purl.obolibrary.org/obo/MONDO_0015273	NANDO:2200269
C2239253	MedGen UID:853730	Aneurysm of sinus of Valsalva	http://www.ncbi.nlm.nih.gov/medgen/853730	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015197	http://purl.obolibrary.org/obo/MONDO_0015197	NANDO:2200293
C2973725	MedGen UID:425404	Pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/425404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015924	http://purl.obolibrary.org/obo/MONDO_0015924	NANDO:2200298
C0265809	MedGen UID:120558	Double outlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/120558	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018090	http://purl.obolibrary.org/obo/MONDO_0018090	NANDO:2200257
C0265898	MedGen UID:488822	Coronary artery fistula	http://www.ncbi.nlm.nih.gov/medgen/488822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016081	http://purl.obolibrary.org/obo/MONDO_0016081	NANDO:2200296
C0265905	MedGen UID:120560	Absent pulmonary artery	http://www.ncbi.nlm.nih.gov/medgen/120560	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020007	http://purl.obolibrary.org/obo/MONDO_0020007	NANDO:2200282
C0349788	MedGen UID:87618	Arrhythmogenic right ventricular cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/87618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016587	http://purl.obolibrary.org/obo/MONDO_0016587	NANDO:2200230
C0546315	MedGen UID:903640	Cardiac diverticulum	http://www.ncbi.nlm.nih.gov/medgen/903640	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015677	http://purl.obolibrary.org/obo/MONDO_0015677	NANDO:2200234
C1141890	MedGen UID:685787	Congenital long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/685787	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019171	http://purl.obolibrary.org/obo/MONDO_0019171	NANDO:2200228
C1857586	MedGen UID:341803	Conotruncal heart malformations	http://www.ncbi.nlm.nih.gov/medgen/341803	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016581	http://purl.obolibrary.org/obo/MONDO_0016581	NANDO:2200275
C3280212	MedGen UID:481842	Supravalvular pulmonary stenosis	http://www.ncbi.nlm.nih.gov/medgen/481842	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017870	http://purl.obolibrary.org/obo/MONDO_0017870	NANDO:2200278
C3496579	MedGen UID:758831	Atypical coarctation of aorta	http://www.ncbi.nlm.nih.gov/medgen/758831	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015446	http://purl.obolibrary.org/obo/MONDO_0015446	NANDO:2200284
C0149530	MedGen UID:57432	Congenital heart block	http://www.ncbi.nlm.nih.gov/medgen/57432	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009326	http://purl.obolibrary.org/obo/MONDO_0009326	NANDO:2200214
C0152419	MedGen UID:57773	Aortic arch interruption	http://www.ncbi.nlm.nih.gov/medgen/57773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009010	http://purl.obolibrary.org/obo/MONDO_0009010	NANDO:2200288
C0344616	MedGen UID:87489	Congenitally corrected transposition of the great arteries	http://www.ncbi.nlm.nih.gov/medgen/87489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016301	http://purl.obolibrary.org/obo/MONDO_0016301	NANDO:2200259
C0344622	MedGen UID:488862	Double inlet left ventricle	http://www.ncbi.nlm.nih.gov/medgen/488862	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015451	http://purl.obolibrary.org/obo/MONDO_0015451	NANDO:2200250
C0344724	MedGen UID:91034	Atrial septal defect, ostium secundum type	http://www.ncbi.nlm.nih.gov/medgen/91034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020434	http://purl.obolibrary.org/obo/MONDO_0020434	NANDO:2200266
C0344730	MedGen UID:138011	Sinus venosus atrial septal defect	http://www.ncbi.nlm.nih.gov/medgen/138011	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020436	http://purl.obolibrary.org/obo/MONDO_0020436	NANDO:2200267
C0344947	MedGen UID:576645	Congenital Gerbode defect	http://www.ncbi.nlm.nih.gov/medgen/576645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020428	http://purl.obolibrary.org/obo/MONDO_0020428	NANDO:2200274
C0344975	MedGen UID:87491	Pulmonary atresia with intact ventricular septum	http://www.ncbi.nlm.nih.gov/medgen/87491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009931	http://purl.obolibrary.org/obo/MONDO_0009931	NANDO:2200253
C0344983	MedGen UID:576671	Pulmonary valve agenesis	http://www.ncbi.nlm.nih.gov/medgen/576671	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020064	http://purl.obolibrary.org/obo/MONDO_0020064	NANDO:2200280
C3838927	MedGen UID:824773	Pulmonary artery coming from the aorta	http://www.ncbi.nlm.nih.gov/medgen/824773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020391	http://purl.obolibrary.org/obo/MONDO_0020391	NANDO:2200281
C5574922	MedGen UID:1803763	Catecholaminergic polymorphic ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/1803763	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	NANDO:2200221
C5574922	MedGen UID:1803763	Catecholaminergic polymorphic ventricular tachycardia	http://www.ncbi.nlm.nih.gov/medgen/1803763	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017990	http://purl.obolibrary.org/obo/MONDO_0017990	NANDO:2200216
C0041207	MedGen UID:52867	Persistent truncus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/52867	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018072	http://purl.obolibrary.org/obo/MONDO_0018072	NANDO:2200261
C1960469	MedGen UID:450531	Left ventricular noncompaction	http://www.ncbi.nlm.nih.gov/medgen/450531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018901	http://purl.obolibrary.org/obo/MONDO_0018901	NANDO:2200231
C0013069	MedGen UID:41649	Double outlet right ventricle	http://www.ncbi.nlm.nih.gov/medgen/41649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018089	http://purl.obolibrary.org/obo/MONDO_0018089	NANDO:2200256
C0013274	MedGen UID:4415	Patent ductus arteriosus	http://www.ncbi.nlm.nih.gov/medgen/4415	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011827	http://purl.obolibrary.org/obo/MONDO_0011827	NANDO:2200264
C0013481	MedGen UID:4435	Ebstein anomaly	http://www.ncbi.nlm.nih.gov/medgen/4435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009144	http://purl.obolibrary.org/obo/MONDO_0009144	NANDO:2200260
C0014117	MedGen UID:4041	Endocardial fibroelastosis	http://www.ncbi.nlm.nih.gov/medgen/4041	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009169	http://purl.obolibrary.org/obo/MONDO_0009169	NANDO:2200235
C0016522	MedGen UID:8891	Patent foramen ovale	http://www.ncbi.nlm.nih.gov/medgen/8891	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0020439	http://purl.obolibrary.org/obo/MONDO_0020439	NANDO:2200266
C0018809	MedGen UID:9172	Neoplasm of the heart	http://www.ncbi.nlm.nih.gov/medgen/9172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021209	http://purl.obolibrary.org/obo/MONDO_0021209	NANDO:2200236
C0243002	MedGen UID:67034	Tricuspid atresia	http://www.ncbi.nlm.nih.gov/medgen/67034	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011514	http://purl.obolibrary.org/obo/MONDO_0011514	NANDO:2200251
C4023290	MedGen UID:868879	Partial atrioventricular canal	http://www.ncbi.nlm.nih.gov/medgen/868879	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015275	http://purl.obolibrary.org/obo/MONDO_0015275	NANDO:2200268
C5680865	MedGen UID:1826176	Congenital pulmonary veins atresia or stenosis	http://www.ncbi.nlm.nih.gov/medgen/1826176	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017864	http://purl.obolibrary.org/obo/MONDO_0017864	NANDO:2200273
C1849157	MedGen UID:338622	Growth delay due to insulin-like growth factor I resistance	http://www.ncbi.nlm.nih.gov/medgen/338622	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010038	http://purl.obolibrary.org/obo/MONDO_0010038	NANDO:2200320
C0001206	MedGen UID:1304	Acromegaly	http://www.ncbi.nlm.nih.gov/medgen/1304	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019933	http://purl.obolibrary.org/obo/MONDO_0019933	NANDO:2200315
C0001231	MedGen UID:103	Ectopic ACTH secretion syndrome	http://www.ncbi.nlm.nih.gov/medgen/103	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043472	http://purl.obolibrary.org/obo/MONDO_0043472	NANDO:2200351
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	NANDO:2200359
C0001403	MedGen UID:1324	Primary adrenocortical insufficiency	http://www.ncbi.nlm.nih.gov/medgen/1324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015129	http://purl.obolibrary.org/obo/MONDO_0015129	NANDO:2200360
C0001627	MedGen UID:7900	Congenital adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/7900	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018479	http://purl.obolibrary.org/obo/MONDO_0018479	NANDO:2200370
C0003504	MedGen UID:8153	Aortic regurgitation	http://www.ncbi.nlm.nih.gov/medgen/8153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005648	http://purl.obolibrary.org/obo/MONDO_0005648	NANDO:2200307
C0003507	MedGen UID:1621	Aortic valve stenosis	http://www.ncbi.nlm.nih.gov/medgen/1621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042981	http://purl.obolibrary.org/obo/MONDO_0042981	NANDO:2200306
C0010308	MedGen UID:41344	Congenital hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/41344	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018612	http://purl.obolibrary.org/obo/MONDO_0018612	NANDO:2200333
C0158619	MedGen UID:510600	Congenital mitral valve insufficiency	http://www.ncbi.nlm.nih.gov/medgen/510600	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001298	http://purl.obolibrary.org/obo/MONDO_0001298	NANDO:2200303
C0162283	MedGen UID:57876	Nephrogenic diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/57876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016383	http://purl.obolibrary.org/obo/MONDO_0016383	NANDO:2200326
C0162809	MedGen UID:102469	Hypogonadism with anosmia	http://www.ncbi.nlm.nih.gov/medgen/102469	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018800	http://purl.obolibrary.org/obo/MONDO_0018800	NANDO:2200381
C0206667	MedGen UID:61654	Adrenocortical adenoma	http://www.ncbi.nlm.nih.gov/medgen/61654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003924	http://purl.obolibrary.org/obo/MONDO_0003924	NANDO:2200352
C0221043	MedGen UID:67439	Liddle syndrome	http://www.ncbi.nlm.nih.gov/medgen/67439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008323	http://purl.obolibrary.org/obo/MONDO_0008323	NANDO:2200363
C0221406	MedGen UID:66381	Pituitary dependent hypercortisolism	http://www.ncbi.nlm.nih.gov/medgen/66381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009050	http://purl.obolibrary.org/obo/MONDO_0009050	NANDO:2200350
C2062388	MedGen UID:923388	Cushing syndrome due to macronodular adrenal hyperplasia	http://www.ncbi.nlm.nih.gov/medgen/923388	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009049	http://purl.obolibrary.org/obo/MONDO_0009049	NANDO:2200353
C2936858	MedGen UID:424833	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/424833	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008728	http://purl.obolibrary.org/obo/MONDO_0008728	NANDO:2200374
C2940786	MedGen UID:424854	Thyroid hormone resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/424854	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001328	http://purl.obolibrary.org/obo/MONDO_0001328	NANDO:2200341
C0022735	MedGen UID:44033	Klinefelter syndrome	http://www.ncbi.nlm.nih.gov/medgen/44033	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006823	http://purl.obolibrary.org/obo/MONDO_0006823	NANDO:2200386
C0026269	MedGen UID:44466	Mitral stenosis	http://www.ncbi.nlm.nih.gov/medgen/44466	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005852	http://purl.obolibrary.org/obo/MONDO_0005852	NANDO:2200302
C0265851	MedGen UID:539536	Congenital supravalvular mitral ring	http://www.ncbi.nlm.nih.gov/medgen/539536	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020400	http://purl.obolibrary.org/obo/MONDO_0020400	NANDO:2200308
C0266283	MedGen UID:78591	Ectopic thyroid	http://www.ncbi.nlm.nih.gov/medgen/78591	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019854	http://purl.obolibrary.org/obo/MONDO_0019854	NANDO:2200330
C0268285	MedGen UID:82782	Deficiency of steroid 17-alpha-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82782	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008730	http://purl.obolibrary.org/obo/MONDO_0008730	NANDO:2200373
C0268292	MedGen UID:82783	Deficiency of steroid 11-beta-monooxygenase	http://www.ncbi.nlm.nih.gov/medgen/82783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008729	http://purl.obolibrary.org/obo/MONDO_0008729	NANDO:2200372
C0268436	MedGen UID:82805	Pseudohypoaldosteronism type 1	http://www.ncbi.nlm.nih.gov/medgen/82805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019161	http://purl.obolibrary.org/obo/MONDO_0019161	NANDO:2200368
C1860042	MedGen UID:348008	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	http://www.ncbi.nlm.nih.gov/medgen/348008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013310	http://purl.obolibrary.org/obo/MONDO_0013310	NANDO:2200375
C3489796	MedGen UID:483749	Thyroid hormone resistance, generalized, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/483749	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010131	http://purl.obolibrary.org/obo/MONDO_0010131	NANDO:2200341
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:2200340
C4302200	MedGen UID:927869	Congenital central hypothyroidism	http://www.ncbi.nlm.nih.gov/medgen/927869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016410	http://purl.obolibrary.org/obo/MONDO_0016410	NANDO:2200332
C4751433	MedGen UID:1651973	Late-onset isolated ACTH deficiency	http://www.ncbi.nlm.nih.gov/medgen/1651973	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016042	http://purl.obolibrary.org/obo/MONDO_0016042	NANDO:2200355
C0085859	MedGen UID:39125	Polyglandular autoimmune syndrome, type 1	http://www.ncbi.nlm.nih.gov/medgen/39125	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	NANDO:2200346
C0085860	MedGen UID:39126	Polyglandular autoimmune syndrome, type 2	http://www.ncbi.nlm.nih.gov/medgen/39126	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010012	http://purl.obolibrary.org/obo/MONDO_0010012	NANDO:2200347
C0342471	MedGen UID:452446	3 beta-Hydroxysteroid dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/452446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008727	http://purl.obolibrary.org/obo/MONDO_0008727	NANDO:2200371
C0342482	MedGen UID:87442	Congenital adrenal hypoplasia, X-linked	http://www.ncbi.nlm.nih.gov/medgen/87442	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010264	http://purl.obolibrary.org/obo/MONDO_0010264	NANDO:2200357
C0342488	MedGen UID:90983	Apparent mineralocorticoid excess	http://www.ncbi.nlm.nih.gov/medgen/90983	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009025	http://purl.obolibrary.org/obo/MONDO_0009025	NANDO:2200362
C0342543	MedGen UID:90985	Central precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/90985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019165	http://purl.obolibrary.org/obo/MONDO_0019165	NANDO:2200377
C0677607	MedGen UID:151769	Hashimoto thyroiditis	http://www.ncbi.nlm.nih.gov/medgen/151769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007699	http://purl.obolibrary.org/obo/MONDO_0007699	NANDO:2200335
C0685837	MedGen UID:146899	46 XX gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/146899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009299	http://purl.obolibrary.org/obo/MONDO_0009299	NANDO:2200384
C0687720	MedGen UID:146919	Central diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/146919	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015790	http://purl.obolibrary.org/obo/MONDO_0015790	NANDO:2200324
C0749420	MedGen UID:155447	Thyroid agenesis	http://www.ncbi.nlm.nih.gov/medgen/155447	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019855	http://purl.obolibrary.org/obo/MONDO_0019855	NANDO:2200331
C1384514	MedGen UID:278002	Primary aldosteronism	http://www.ncbi.nlm.nih.gov/medgen/278002	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001422	http://purl.obolibrary.org/obo/MONDO_0001422	NANDO:2200361
C1841972	MedGen UID:333960	Glucocorticoid resistance	http://www.ncbi.nlm.nih.gov/medgen/333960	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014421	http://purl.obolibrary.org/obo/MONDO_0014421	NANDO:2200358
C0033805	MedGen UID:18721	Pseudohypoaldosteronism	http://www.ncbi.nlm.nih.gov/medgen/18721	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018638	http://purl.obolibrary.org/obo/MONDO_0018638	NANDO:2200367
C0033806	MedGen UID:46178	Pseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/46178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019992	http://purl.obolibrary.org/obo/MONDO_0019992	NANDO:2200349
C0033835	MedGen UID:10995	Pseudopseudohypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/10995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012912	http://purl.obolibrary.org/obo/MONDO_0012912	NANDO:2200348
C0034088	MedGen UID:11031	Pulmonary valve insufficiency	http://www.ncbi.nlm.nih.gov/medgen/11031	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001927	http://purl.obolibrary.org/obo/MONDO_0001927	NANDO:2200305
C0034089	MedGen UID:18768	Pulmonary valve stenosis	http://www.ncbi.nlm.nih.gov/medgen/18768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006936	http://purl.obolibrary.org/obo/MONDO_0006936	NANDO:2200304
C0271623	MedGen UID:82883	Hypogonadotropic hypogonadism	http://www.ncbi.nlm.nih.gov/medgen/82883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018555	http://purl.obolibrary.org/obo/MONDO_0018555	NANDO:2200382
C2919755	MedGen UID:754060	Testicular dysgenesis syndrome	http://www.ncbi.nlm.nih.gov/medgen/754060	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005437	http://purl.obolibrary.org/obo/MONDO_0005437	NANDO:2200383
C4318479	MedGen UID:1384226	Growth hormone insensitivity syndrome	http://www.ncbi.nlm.nih.gov/medgen/1384226	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015892	http://purl.obolibrary.org/obo/MONDO_0015892	NANDO:2200321
C0017547	MedGen UID:6602	Gigantism	http://www.ncbi.nlm.nih.gov/medgen/6602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020479	http://purl.obolibrary.org/obo/MONDO_0020479	NANDO:2200314
C0018213	MedGen UID:6677	Graves disease	http://www.ncbi.nlm.nih.gov/medgen/6677	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005364	http://purl.obolibrary.org/obo/MONDO_0005364	NANDO:2200328
C0020502	MedGen UID:6967	Hyperparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001741	http://purl.obolibrary.org/obo/MONDO_0001741	NANDO:2200343
C0020514	MedGen UID:5698	Hyperprolactinemia	http://www.ncbi.nlm.nih.gov/medgen/5698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005804	http://purl.obolibrary.org/obo/MONDO_0005804	NANDO:2200322
C0020550	MedGen UID:6972	Hyperthyroidism	http://www.ncbi.nlm.nih.gov/medgen/6972	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004425	http://purl.obolibrary.org/obo/MONDO_0004425	NANDO:2200329
C0020626	MedGen UID:6985	Hypoparathyroidism	http://www.ncbi.nlm.nih.gov/medgen/6985	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001220	http://purl.obolibrary.org/obo/MONDO_0001220	NANDO:2200345
C0021141	MedGen UID:5772	Inappropriate antidiuretic hormone secretion	http://www.ncbi.nlm.nih.gov/medgen/5772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006802	http://purl.obolibrary.org/obo/MONDO_0006802	NANDO:2200323
C0238183	MedGen UID:536775	Atrophic thyroiditis	http://www.ncbi.nlm.nih.gov/medgen/536775	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005624	http://purl.obolibrary.org/obo/MONDO_0005624	NANDO:2200336
C1449844	MedGen UID:259599	Pseudohypoaldosteronism, type 2	http://www.ncbi.nlm.nih.gov/medgen/259599	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019162	http://purl.obolibrary.org/obo/MONDO_0019162	NANDO:2200369
C5679572	MedGen UID:1843308	Isolated congenital growth hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1843308	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000050	http://purl.obolibrary.org/obo/MONDO_0000050	NANDO:2200317
C5679613	MedGen UID:1814438	46,XX ovotesticular disorder of sex development	http://www.ncbi.nlm.nih.gov/medgen/1814438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016281	http://purl.obolibrary.org/obo/MONDO_0016281	NANDO:2200387
C5680091	MedGen UID:1842250	Non-acquired combined pituitary hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1842250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018762	http://purl.obolibrary.org/obo/MONDO_0018762	NANDO:2200312
C5680513	MedGen UID:1842596	Peripheral precocious puberty	http://www.ncbi.nlm.nih.gov/medgen/1842596	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015791	http://purl.obolibrary.org/obo/MONDO_0015791	NANDO:2200378
C5681569	MedGen UID:1843262	Acquired pituitary hormone deficiency	http://www.ncbi.nlm.nih.gov/medgen/1843262	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019832	http://purl.obolibrary.org/obo/MONDO_0019832	NANDO:2200313
C1850568	MedGen UID:376827	Proteosome-associated autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/376827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009726	http://purl.obolibrary.org/obo/MONDO_0009726	NANDO:2200435
C1852093	MedGen UID:377589	Maturity-onset diabetes of the young type 1	http://www.ncbi.nlm.nih.gov/medgen/377589	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007452	http://purl.obolibrary.org/obo/MONDO_0007452	NANDO:2200461
C0003509	MedGen UID:8154	Aortitis	http://www.ncbi.nlm.nih.gov/medgen/8154	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0006656	http://purl.obolibrary.org/obo/MONDO_0006656	NANDO:2200423
C0004943	MedGen UID:2568	Behcet disease	http://www.ncbi.nlm.nih.gov/medgen/2568	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007191	http://purl.obolibrary.org/obo/MONDO_0007191	NANDO:2200422
C0007095	MedGen UID:2838	Carcinoid tumor	http://www.ncbi.nlm.nih.gov/medgen/2838	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005369	http://purl.obolibrary.org/obo/MONDO_0005369	NANDO:2200396
C0008029	MedGen UID:40219	Fibrous dysplasia of jaw	http://www.ncbi.nlm.nih.gov/medgen/40219	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007315	http://purl.obolibrary.org/obo/MONDO_0007315	NANDO:2200444
C0008728	MedGen UID:3088	Eosinophilic granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/3088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015943	http://purl.obolibrary.org/obo/MONDO_0015943	NANDO:2200427
C0410422	MedGen UID:140822	Chronic multifocal osteomyelitis	http://www.ncbi.nlm.nih.gov/medgen/140822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009813	http://purl.obolibrary.org/obo/MONDO_0009813	NANDO:2200438
C2673198	MedGen UID:435869	Familial cold autoinflammatory syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/435869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012724	http://purl.obolibrary.org/obo/MONDO_0012724	NANDO:2200449
C2675508	MedGen UID:393403	Inflammatory bowel disease 25	http://www.ncbi.nlm.nih.gov/medgen/393403	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012941	http://purl.obolibrary.org/obo/MONDO_0012941	NANDO:2200448
C0023787	MedGen UID:6111	Lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006573	http://purl.obolibrary.org/obo/MONDO_0006573	NANDO:2200404
C0024141	MedGen UID:6146	Systemic lupus erythematosus	http://www.ncbi.nlm.nih.gov/medgen/6146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007915	http://purl.obolibrary.org/obo/MONDO_0007915	NANDO:2200416
C0025267	MedGen UID:9957	Multiple endocrine neoplasia, type 1	http://www.ncbi.nlm.nih.gov/medgen/9957	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007540	http://purl.obolibrary.org/obo/MONDO_0007540	NANDO:2200405
C0025268	MedGen UID:9958	Multiple endocrine neoplasia type 2A	http://www.ncbi.nlm.nih.gov/medgen/9958	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	NANDO:2200406
C0026272	MedGen UID:10069	Mixed connective tissue disease	http://www.ncbi.nlm.nih.gov/medgen/10069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005854	http://purl.obolibrary.org/obo/MONDO_0005854	NANDO:2200430
C0268296	MedGen UID:120626	Testosterone 17-beta-dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120626	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009916	http://purl.obolibrary.org/obo/MONDO_0009916	NANDO:2200390
C0268297	MedGen UID:75667	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009923	http://purl.obolibrary.org/obo/MONDO_0009923	NANDO:2200389
C0392439	MedGen UID:581114	Acrodermatitis continua suppurativa of Hallopeau	http://www.ncbi.nlm.nih.gov/medgen/581114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013626	http://purl.obolibrary.org/obo/MONDO_0013626	NANDO:2200452
C0398691	MedGen UID:140768	Hyperimmunoglobulin D with periodic fever	http://www.ncbi.nlm.nih.gov/medgen/140768	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009849	http://purl.obolibrary.org/obo/MONDO_0009849	NANDO:2200436
C1275126	MedGen UID:226899	TNF receptor-associated periodic fever syndrome (TRAPS)	http://www.ncbi.nlm.nih.gov/medgen/226899	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007727	http://purl.obolibrary.org/obo/MONDO_0007727	NANDO:2200433
C1858361	MedGen UID:346801	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	http://www.ncbi.nlm.nih.gov/medgen/346801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011462	http://purl.obolibrary.org/obo/MONDO_0011462	NANDO:2200437
C3280914	MedGen UID:482544	Familial cold autoinflammatory syndrome 3	http://www.ncbi.nlm.nih.gov/medgen/482544	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013766	http://purl.obolibrary.org/obo/MONDO_0013766	NANDO:2200455
C3495559	MedGen UID:760659	Juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/760659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011429	http://purl.obolibrary.org/obo/MONDO_0011429	NANDO:2200415
C3495801	MedGen UID:811223	Granulomatosis with polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/811223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012105	http://purl.obolibrary.org/obo/MONDO_0012105	NANDO:2200424
C3553961	MedGen UID:766875	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/766875	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	NANDO:2200442
C3553961	MedGen UID:766875	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/766875	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013944	http://purl.obolibrary.org/obo/MONDO_0013944	NANDO:2200451
C5201146	MedGen UID:1684759	Blau syndrome	http://www.ncbi.nlm.nih.gov/medgen/1684759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008523	http://purl.obolibrary.org/obo/MONDO_0008523	NANDO:2200434
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:2200450
C3887654	MedGen UID:854497	Vasculitis due to ADA2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/854497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014306	http://purl.obolibrary.org/obo/MONDO_0014306	NANDO:2200441
C0032460	MedGen UID:10836	Polycystic ovaries	http://www.ncbi.nlm.nih.gov/medgen/10836	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008487	http://purl.obolibrary.org/obo/MONDO_0008487	NANDO:2200409
C0032897	MedGen UID:46057	Prader-Willi syndrome	http://www.ncbi.nlm.nih.gov/medgen/46057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008300	http://purl.obolibrary.org/obo/MONDO_0008300	NANDO:2200411
C0036421	MedGen UID:19897	Systemic sclerosis	http://www.ncbi.nlm.nih.gov/medgen/19897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005100	http://purl.obolibrary.org/obo/MONDO_0005100	NANDO:2200429
C1864445	MedGen UID:400532	H syndrome	http://www.ncbi.nlm.nih.gov/medgen/400532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011273	http://purl.obolibrary.org/obo/MONDO_0011273	NANDO:2200457
C1864497	MedGen UID:351141	Psoriasis 2	http://www.ncbi.nlm.nih.gov/medgen/351141	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011269	http://purl.obolibrary.org/obo/MONDO_0011269	NANDO:2200443
C1864903	MedGen UID:351247	Hyperinsulinemic hypoglycemia	http://www.ncbi.nlm.nih.gov/medgen/351247	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005803	http://purl.obolibrary.org/obo/MONDO_0005803	NANDO:2200399
C1864997	MedGen UID:351273	Majeed syndrome	http://www.ncbi.nlm.nih.gov/medgen/351273	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012316	http://purl.obolibrary.org/obo/MONDO_0012316	NANDO:2200453
C2748507	MedGen UID:411230	Sterile multifocal osteomyelitis with periostitis and pustulosis	http://www.ncbi.nlm.nih.gov/medgen/411230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013021	http://purl.obolibrary.org/obo/MONDO_0013021	NANDO:2200439
C2751053	MedGen UID:442630	Inflammatory bowel disease 28	http://www.ncbi.nlm.nih.gov/medgen/442630	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013153	http://purl.obolibrary.org/obo/MONDO_0013153	NANDO:2200447
C0017150	MedGen UID:6551	Gastrin-producing neuroendocrine tumor	http://www.ncbi.nlm.nih.gov/medgen/6551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003523	http://purl.obolibrary.org/obo/MONDO_0003523	NANDO:2200395
C0018055	MedGen UID:6654	Mixed gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/6654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001969	http://purl.obolibrary.org/obo/MONDO_0001969	NANDO:2200388
C0263666	MedGen UID:120486	Childhood type dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/120486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008054	http://purl.obolibrary.org/obo/MONDO_0008054	NANDO:2200418
C0752166	MedGen UID:156019	Bardet-Biedl syndrome	http://www.ncbi.nlm.nih.gov/medgen/156019	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015229	http://purl.obolibrary.org/obo/MONDO_0015229	NANDO:2200414
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:2200420
CN279762	MedGen UID:963057	45,X/46,XY mixed gonadal dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/963057	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015779	http://purl.obolibrary.org/obo/MONDO_0015779	NANDO:2200388
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2200402
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2200403
C0011993	MedGen UID:41532	VIPoma	http://www.ncbi.nlm.nih.gov/medgen/41532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019960	http://purl.obolibrary.org/obo/MONDO_0019960	NANDO:2200394
C0221468	MedGen UID:526251	Vitamin D-dependent rickets	http://www.ncbi.nlm.nih.gov/medgen/526251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024299	http://purl.obolibrary.org/obo/MONDO_0024299	NANDO:2200401
C2316212	MedGen UID:412215	Cryopyrin associated periodic syndrome	http://www.ncbi.nlm.nih.gov/medgen/412215	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016168	http://purl.obolibrary.org/obo/MONDO_0016168	NANDO:2200432
C2347126	MedGen UID:389393	Microscopic polyangiitis	http://www.ncbi.nlm.nih.gov/medgen/389393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019124	http://purl.obolibrary.org/obo/MONDO_0019124	NANDO:2200426
C0028326	MedGen UID:18073	Noonan syndrome	http://www.ncbi.nlm.nih.gov/medgen/18073	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018997	http://purl.obolibrary.org/obo/MONDO_0018997	NANDO:2200413
C0031036	MedGen UID:14681	Polyarteritis nodosa	http://www.ncbi.nlm.nih.gov/medgen/14681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019170	http://purl.obolibrary.org/obo/MONDO_0019170	NANDO:2200425
C0031069	MedGen UID:45811	Familial Mediterranean fever	http://www.ncbi.nlm.nih.gov/medgen/45811	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018088	http://purl.obolibrary.org/obo/MONDO_0018088	NANDO:2200431
C3826988	MedGen UID:819736	Juvenile polymyositis	http://www.ncbi.nlm.nih.gov/medgen/819736	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019734	http://purl.obolibrary.org/obo/MONDO_0019734	NANDO:2200419
C4749850	MedGen UID:1661450	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	http://www.ncbi.nlm.nih.gov/medgen/1661450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016542	http://purl.obolibrary.org/obo/MONDO_0016542	NANDO:2200446
C0342731	MedGen UID:87453	Deficiency of mevalonate kinase	http://www.ncbi.nlm.nih.gov/medgen/87453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017708	http://purl.obolibrary.org/obo/MONDO_0017708	NANDO:2200436
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:2200449
C3888018	MedGen UID:854723	Familial hyperinsulinism	http://www.ncbi.nlm.nih.gov/medgen/854723	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017182	http://purl.obolibrary.org/obo/MONDO_0017182	NANDO:2200399
C0032453	MedGen UID:45995	Relapsing polychondritis	http://www.ncbi.nlm.nih.gov/medgen/45995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019125	http://purl.obolibrary.org/obo/MONDO_0019125	NANDO:2200428
C0039263	MedGen UID:21458	Takayasu arteritis	http://www.ncbi.nlm.nih.gov/medgen/21458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017991	http://purl.obolibrary.org/obo/MONDO_0017991	NANDO:2200423
C0039585	MedGen UID:21102	Androgen resistance syndrome	http://www.ncbi.nlm.nih.gov/medgen/21102	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019154	http://purl.obolibrary.org/obo/MONDO_0019154	NANDO:2200391
C0041408	MedGen UID:21734	Turner syndrome	http://www.ncbi.nlm.nih.gov/medgen/21734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019499	http://purl.obolibrary.org/obo/MONDO_0019499	NANDO:2200410
C2751824	MedGen UID:414114	46,XY disorder of sex development	http://www.ncbi.nlm.nih.gov/medgen/414114	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020040	http://purl.obolibrary.org/obo/MONDO_0020040	NANDO:2200393
C0017689	MedGen UID:4908	Glucagonoma syndrome	http://www.ncbi.nlm.nih.gov/medgen/4908	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019959	http://purl.obolibrary.org/obo/MONDO_0019959	NANDO:2200397
C0021670	MedGen UID:43907	Pancreatic insulinoma	http://www.ncbi.nlm.nih.gov/medgen/43907	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024677	http://purl.obolibrary.org/obo/MONDO_0024677	NANDO:2200398
C0242292	MedGen UID:69164	McCune-Albright syndrome	http://www.ncbi.nlm.nih.gov/medgen/69164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018919	http://purl.obolibrary.org/obo/MONDO_0018919	NANDO:2200412
C4048306	MedGen UID:887211	Multiple endocrine neoplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/887211	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019003	http://purl.obolibrary.org/obo/MONDO_0019003	NANDO:2200406
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:2200465
CN294825	MedGen UID:978099	A20 haploinsufficiency	http://www.ncbi.nlm.nih.gov/medgen/978099	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100222	http://purl.obolibrary.org/obo/MONDO_0100222	NANDO:2200458
C0011854	MedGen UID:41522	Diabetes mellitus type 1	http://www.ncbi.nlm.nih.gov/medgen/41522	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005147	http://purl.obolibrary.org/obo/MONDO_0005147	NANDO:2200460
C0011859	MedGen UID:4256	Lipoatrophic diabetes	http://www.ncbi.nlm.nih.gov/medgen/4256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005827	http://purl.obolibrary.org/obo/MONDO_0005827	NANDO:2200465
C0011860	MedGen UID:41523	Type 2 diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/41523	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005148	http://purl.obolibrary.org/obo/MONDO_0005148	NANDO:2200461
C0158981	MedGen UID:57645	Neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/57645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016391	http://purl.obolibrary.org/obo/MONDO_0016391	NANDO:2200463
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:2200467
C0268490	MedGen UID:75688	Tyrosinemia type I	http://www.ncbi.nlm.nih.gov/medgen/75688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010161	http://purl.obolibrary.org/obo/MONDO_0010161	NANDO:2200468
C0342276	MedGen UID:87433	Maturity onset diabetes mellitus in young	http://www.ncbi.nlm.nih.gov/medgen/87433	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018911	http://purl.obolibrary.org/obo/MONDO_0018911	NANDO:2200462
C4015067	MedGen UID:863504	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/863504	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014472	http://purl.obolibrary.org/obo/MONDO_0014472	NANDO:2200459
C0002066	MedGen UID:1413	Alkaptonuria	http://www.ncbi.nlm.nih.gov/medgen/1413	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008753	http://purl.obolibrary.org/obo/MONDO_0008753	NANDO:2200504
C0010691	MedGen UID:8226	Cystinuria	http://www.ncbi.nlm.nih.gov/medgen/8226	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009067	http://purl.obolibrary.org/obo/MONDO_0009067	NANDO:2200489
C0220710	MedGen UID:65086	Medium-chain acyl-coenzyme A dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/65086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008721	http://purl.obolibrary.org/obo/MONDO_0008721	NANDO:2200513
C0023786	MedGen UID:44171	Mucopolysaccharidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44171	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001586	http://purl.obolibrary.org/obo/MONDO_0001586	NANDO:2200547
C0268532	MedGen UID:120647	Prolidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/120647	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008221	http://purl.obolibrary.org/obo/MONDO_0008221	NANDO:2200472
C0268547	MedGen UID:78687	Argininosuccinate lyase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008815	http://purl.obolibrary.org/obo/MONDO_0008815	NANDO:2200481
C0268548	MedGen UID:78688	Arginase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008814	http://purl.obolibrary.org/obo/MONDO_0008814	NANDO:2200482
C0268583	MedGen UID:120654	Methylmalonic acidemia	http://www.ncbi.nlm.nih.gov/medgen/120654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002012	http://purl.obolibrary.org/obo/MONDO_0002012	NANDO:2200491
C0268647	MedGen UID:75704	Lysinuric protein intolerance	http://www.ncbi.nlm.nih.gov/medgen/75704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009109	http://purl.obolibrary.org/obo/MONDO_0009109	NANDO:2200488
C4721769	MedGen UID:1648491	Citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1648491	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008988	http://purl.obolibrary.org/obo/MONDO_0008988	NANDO:2200480
C0342783	MedGen UID:90998	Deficiency of butyryl-CoA dehydrogenase	http://www.ncbi.nlm.nih.gov/medgen/90998	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008722	http://purl.obolibrary.org/obo/MONDO_0008722	NANDO:2200514
C0342788	MedGen UID:90999	Renal carnitine transport defect	http://www.ncbi.nlm.nih.gov/medgen/90999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008919	http://purl.obolibrary.org/obo/MONDO_0008919	NANDO:2200508
C0342791	MedGen UID:91000	Carnitine acylcarnitine translocase deficiency	http://www.ncbi.nlm.nih.gov/medgen/91000	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008918	http://purl.obolibrary.org/obo/MONDO_0008918	NANDO:2200511
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	NANDO:2200512
C0016751	MedGen UID:42105	Hereditary fructosuria	http://www.ncbi.nlm.nih.gov/medgen/42105	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009249	http://purl.obolibrary.org/obo/MONDO_0009249	NANDO:2200531
C0017920	MedGen UID:6640	Glycogen storage disease, type I	http://www.ncbi.nlm.nih.gov/medgen/6640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002413	http://purl.obolibrary.org/obo/MONDO_0002413	NANDO:2200538
C0019880	MedGen UID:42485	Homocystinuria	http://www.ncbi.nlm.nih.gov/medgen/42485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0004737	http://purl.obolibrary.org/obo/MONDO_0004737	NANDO:2200474
C0020501	MedGen UID:5697	Primary hyperoxaluria	http://www.ncbi.nlm.nih.gov/medgen/5697	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002474	http://purl.obolibrary.org/obo/MONDO_0002474	NANDO:2200503
C1536500	MedGen UID:280689	Deficiency of acetyl-CoA acetyltransferase	http://www.ncbi.nlm.nih.gov/medgen/280689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008760	http://purl.obolibrary.org/obo/MONDO_0008760	NANDO:2200493
C4048705	MedGen UID:887708	Hypermethioninemia	http://www.ncbi.nlm.nih.gov/medgen/887708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000351	http://purl.obolibrary.org/obo/MONDO_0000351	NANDO:2200475
C1829703	MedGen UID:316820	Carnitine palmitoyl transferase 1A deficiency	http://www.ncbi.nlm.nih.gov/medgen/316820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009705	http://purl.obolibrary.org/obo/MONDO_0009705	NANDO:2200509
C0162671	MedGen UID:56485	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	http://www.ncbi.nlm.nih.gov/medgen/56485	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010789	http://purl.obolibrary.org/obo/MONDO_0010789	NANDO:2200525
C0162672	MedGen UID:56486	MERRF syndrome	http://www.ncbi.nlm.nih.gov/medgen/56486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010790	http://purl.obolibrary.org/obo/MONDO_0010790	NANDO:2200526
C1997910	MedGen UID:372684	Citrin deficiency	http://www.ncbi.nlm.nih.gov/medgen/372684	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016602	http://purl.obolibrary.org/obo/MONDO_0016602	NANDO:2200483
C0023264	MedGen UID:44095	Leigh syndrome	http://www.ncbi.nlm.nih.gov/medgen/44095	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009723	http://purl.obolibrary.org/obo/MONDO_0009723	NANDO:2200527
C0024776	MedGen UID:6217	Maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/6217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009563	http://purl.obolibrary.org/obo/MONDO_0009563	NANDO:2200473
C0026755	MedGen UID:10119	Multiple carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/10119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015454	http://purl.obolibrary.org/obo/MONDO_0015454	NANDO:2200500
C0268151	MedGen UID:82777	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/medgen/82777	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009258	http://purl.obolibrary.org/obo/MONDO_0009258	NANDO:2200532
C0268155	MedGen UID:120614	Deficiency of galactokinase	http://www.ncbi.nlm.nih.gov/medgen/120614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009255	http://purl.obolibrary.org/obo/MONDO_0009255	NANDO:2200533
C0268194	MedGen UID:120618	Phosphoenolpyruvate carboxykinase (GTP) deficiency	http://www.ncbi.nlm.nih.gov/medgen/120618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017320	http://purl.obolibrary.org/obo/MONDO_0017320	NANDO:2200536
C0268418	MedGen UID:82803	Inborn glycerol kinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82803	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010613	http://purl.obolibrary.org/obo/MONDO_0010613	NANDO:2200505
C0268487	MedGen UID:75687	Tyrosinemia type II	http://www.ncbi.nlm.nih.gov/medgen/75687	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010160	http://purl.obolibrary.org/obo/MONDO_0010160	NANDO:2200469
C0268540	MedGen UID:82815	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	http://www.ncbi.nlm.nih.gov/medgen/82815	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009393	http://purl.obolibrary.org/obo/MONDO_0009393	NANDO:2200485
C0268542	MedGen UID:75692	Ornithine carbamoyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010703	http://purl.obolibrary.org/obo/MONDO_0010703	NANDO:2200479
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	NANDO:2200477
C0268575	MedGen UID:82822	Isovaleryl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82822	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009475	http://purl.obolibrary.org/obo/MONDO_0009475	NANDO:2200494
C0268579	MedGen UID:75694	Propionic acidemia	http://www.ncbi.nlm.nih.gov/medgen/75694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011628	http://purl.obolibrary.org/obo/MONDO_0011628	NANDO:2200492
C0268595	MedGen UID:124337	Glutaric aciduria, type 1	http://www.ncbi.nlm.nih.gov/medgen/124337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009281	http://purl.obolibrary.org/obo/MONDO_0009281	NANDO:2200501
C0268596	MedGen UID:75696	Multiple acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75696	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009282	http://purl.obolibrary.org/obo/MONDO_0009282	NANDO:2200502
C0268601	MedGen UID:78692	Deficiency of hydroxymethylglutaryl-CoA lyase	http://www.ncbi.nlm.nih.gov/medgen/78692	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	NANDO:2200497
C0268623	MedGen UID:78694	Tyrosinemia type III	http://www.ncbi.nlm.nih.gov/medgen/78694	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010162	http://purl.obolibrary.org/obo/MONDO_0010162	NANDO:2200470
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:2200537
C3696376	MedGen UID:777186	3-Methylglutaconic aciduria	http://www.ncbi.nlm.nih.gov/medgen/777186	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017359	http://purl.obolibrary.org/obo/MONDO_0017359	NANDO:2200496
C4082171	MedGen UID:907954	Congenital hyperammonemia, type I	http://www.ncbi.nlm.nih.gov/medgen/907954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009376	http://purl.obolibrary.org/obo/MONDO_0009376	NANDO:2200478
C0342770	MedGen UID:87458	Fumarase deficiency	http://www.ncbi.nlm.nih.gov/medgen/87458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011730	http://purl.obolibrary.org/obo/MONDO_0011730	NANDO:2200520
C0342782	MedGen UID:452449	Mitochondrial DNA depletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/452449	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	NANDO:2200528
C0342782	MedGen UID:452449	Mitochondrial DNA depletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/452449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018158	http://purl.obolibrary.org/obo/MONDO_0018158	NANDO:2200523
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2200510
C0342792	MedGen UID:137979	Succinyl-CoA acetoacetate transferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/137979	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009492	http://purl.obolibrary.org/obo/MONDO_0009492	NANDO:2200499
C4551505	MedGen UID:1633312	Methylcrotonyl-CoA carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1633312	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018950	http://purl.obolibrary.org/obo/MONDO_0018950	NANDO:2200495
C4551966	MedGen UID:1645412	Encephalopathy due to GLUT1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1645412	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011724	http://purl.obolibrary.org/obo/MONDO_0011724	NANDO:2200545
C0034341	MedGen UID:18801	Pyruvate carboxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/18801	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009949	http://purl.obolibrary.org/obo/MONDO_0009949	NANDO:2200519
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:2200515
C2751532	MedGen UID:414399	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/414399	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011614	http://purl.obolibrary.org/obo/MONDO_0011614	NANDO:2200498
C0016756	MedGen UID:42106	Fructose-biphosphatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/42106	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009251	http://purl.obolibrary.org/obo/MONDO_0009251	NANDO:2200535
C0017922	MedGen UID:6641	Glycogen storage disease type III	http://www.ncbi.nlm.nih.gov/medgen/6641	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009291	http://purl.obolibrary.org/obo/MONDO_0009291	NANDO:2200539
C0017923	MedGen UID:6642	Glycogen storage disease, type IV	http://www.ncbi.nlm.nih.gov/medgen/6642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009292	http://purl.obolibrary.org/obo/MONDO_0009292	NANDO:2200540
C0017924	MedGen UID:5341	Glycogen storage disease, type V	http://www.ncbi.nlm.nih.gov/medgen/5341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009293	http://purl.obolibrary.org/obo/MONDO_0009293	NANDO:2200541
C0017925	MedGen UID:6643	Glycogen storage disease, type VI	http://www.ncbi.nlm.nih.gov/medgen/6643	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009294	http://purl.obolibrary.org/obo/MONDO_0009294	NANDO:2200542
C0017926	MedGen UID:5342	Glycogen storage disease, type VII	http://www.ncbi.nlm.nih.gov/medgen/5342	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009295	http://purl.obolibrary.org/obo/MONDO_0009295	NANDO:2200543
C0018425	MedGen UID:6695	Ornithine aminotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/6695	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	NANDO:2200486
C0018425	MedGen UID:6695	Ornithine aminotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/6695	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009796	http://purl.obolibrary.org/obo/MONDO_0009796	NANDO:2200484
C0018609	MedGen UID:6723	Neutral 1 amino acid transport defect	http://www.ncbi.nlm.nih.gov/medgen/6723	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009324	http://purl.obolibrary.org/obo/MONDO_0009324	NANDO:2200487
C0022541	MedGen UID:9618	Kearns-Sayre syndrome	http://www.ncbi.nlm.nih.gov/medgen/9618	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010787	http://purl.obolibrary.org/obo/MONDO_0010787	NANDO:2200529
C0751161	MedGen UID:199598	UDPglucose-4-epimerase deficiency	http://www.ncbi.nlm.nih.gov/medgen/199598	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009257	http://purl.obolibrary.org/obo/MONDO_0009257	NANDO:2200534
C0751748	MedGen UID:155625	Non-ketotic hyperglycinemia	http://www.ncbi.nlm.nih.gov/medgen/155625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011612	http://purl.obolibrary.org/obo/MONDO_0011612	NANDO:2200476
C0268528	MedGen UID:75690	Hyperprolinemia	http://www.ncbi.nlm.nih.gov/medgen/75690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0023419	http://purl.obolibrary.org/obo/MONDO_0023419	NANDO:2200471
C0400973	MedGen UID:98324	Inborn disorder of bile acid synthesis	http://www.ncbi.nlm.nih.gov/medgen/98324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019218	http://purl.obolibrary.org/obo/MONDO_0019218	NANDO:2200506
C0034345	MedGen UID:19610	Pyruvate dehydrogenase complex deficiency	http://www.ncbi.nlm.nih.gov/medgen/19610	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019169	http://purl.obolibrary.org/obo/MONDO_0019169	NANDO:2200518
C0023522	MedGen UID:6071	Metachromatic leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6071	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018868	http://purl.obolibrary.org/obo/MONDO_0018868	NANDO:2200560
C0026705	MedGen UID:7734	Mucopolysaccharidosis, MPS-II	http://www.ncbi.nlm.nih.gov/medgen/7734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010674	http://purl.obolibrary.org/obo/MONDO_0010674	NANDO:2200548
C0026706	MedGen UID:6452	Sanfilippo syndrome	http://www.ncbi.nlm.nih.gov/medgen/6452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018937	http://purl.obolibrary.org/obo/MONDO_0018937	NANDO:2200549
C0026707	MedGen UID:44513	Morquio syndrome	http://www.ncbi.nlm.nih.gov/medgen/44513	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018938	http://purl.obolibrary.org/obo/MONDO_0018938	NANDO:2200550
C0026709	MedGen UID:44514	Mucopolysaccharidosis type 6	http://www.ncbi.nlm.nih.gov/medgen/44514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009661	http://purl.obolibrary.org/obo/MONDO_0009661	NANDO:2200551
C0028064	MedGen UID:10348	Sphingomyelin/cholesterol lipidosis	http://www.ncbi.nlm.nih.gov/medgen/10348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001982	http://purl.obolibrary.org/obo/MONDO_0001982	NANDO:2200561
C0268225	MedGen UID:78649	Aspartylglucosaminuria	http://www.ncbi.nlm.nih.gov/medgen/78649	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008830	http://purl.obolibrary.org/obo/MONDO_0008830	NANDO:2200555
C0268226	MedGen UID:120621	Sialidosis	http://www.ncbi.nlm.nih.gov/medgen/120621	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017734	http://purl.obolibrary.org/obo/MONDO_0017734	NANDO:2200556
C0268233	MedGen UID:82779	Combined deficiency of sialidase AND beta galactosidase	http://www.ncbi.nlm.nih.gov/medgen/82779	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009737	http://purl.obolibrary.org/obo/MONDO_0009737	NANDO:2200557
C0268274	MedGen UID:78656	GM2 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/78656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017720	http://purl.obolibrary.org/obo/MONDO_0017720	NANDO:2200559
C0085131	MedGen UID:43107	GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/43107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018149	http://purl.obolibrary.org/obo/MONDO_0018149	NANDO:2200558
C0085132	MedGen UID:43108	Mucopolysaccharidosis type 7	http://www.ncbi.nlm.nih.gov/medgen/43108	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009662	http://purl.obolibrary.org/obo/MONDO_0009662	NANDO:2200552
C0016788	MedGen UID:5288	Fucosidosis	http://www.ncbi.nlm.nih.gov/medgen/5288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009254	http://purl.obolibrary.org/obo/MONDO_0009254	NANDO:2200553
C0017205	MedGen UID:42164	Gaucher disease	http://www.ncbi.nlm.nih.gov/medgen/42164	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018150	http://purl.obolibrary.org/obo/MONDO_0018150	NANDO:2200562
C1832200	MedGen UID:330407	Peroxisome biogenesis disorder	http://www.ncbi.nlm.nih.gov/medgen/330407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019234	http://purl.obolibrary.org/obo/MONDO_0019234	NANDO:2200575
C0000744	MedGen UID:1253	Abetalipoproteinaemia	http://www.ncbi.nlm.nih.gov/medgen/1253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008692	http://purl.obolibrary.org/obo/MONDO_0008692	NANDO:2200604
C0002876	MedGen UID:8064	Congenital dyserythropoietic anemia	http://www.ncbi.nlm.nih.gov/medgen/8064	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019403	http://purl.obolibrary.org/obo/MONDO_0019403	NANDO:2200615
C0002888	MedGen UID:1527	Megaloblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001700	http://purl.obolibrary.org/obo/MONDO_0001700	NANDO:2200612
C0002895	MedGen UID:287	Hb SS disease	http://www.ncbi.nlm.nih.gov/medgen/287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011382	http://purl.obolibrary.org/obo/MONDO_0011382	NANDO:2200624
C0002896	MedGen UID:8067	Sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015194	http://purl.obolibrary.org/obo/MONDO_0015194	NANDO:2200616
C0002986	MedGen UID:8083	Fabry disease	http://www.ncbi.nlm.nih.gov/medgen/8083	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010526	http://purl.obolibrary.org/obo/MONDO_0010526	NANDO:2200563
C0162309	MedGen UID:57667	Adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/57667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018544	http://purl.obolibrary.org/obo/MONDO_0018544	NANDO:2200576
C0220987	MedGen UID:472940	Hereditary orotic aciduria	http://www.ncbi.nlm.nih.gov/medgen/472940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009797	http://purl.obolibrary.org/obo/MONDO_0009797	NANDO:2200590
C0220988	MedGen UID:450997	Xanthinuria	http://www.ncbi.nlm.nih.gov/medgen/450997	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000721	http://purl.obolibrary.org/obo/MONDO_0000721	NANDO:2200588
C0221036	MedGen UID:66355	Hereditary acrodermatitis enteropathica	http://www.ncbi.nlm.nih.gov/medgen/66355	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008713	http://purl.obolibrary.org/obo/MONDO_0008713	NANDO:2200584
C0221757	MedGen UID:67461	Alpha-1-antitrypsin deficiency	http://www.ncbi.nlm.nih.gov/medgen/67461	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013282	http://purl.obolibrary.org/obo/MONDO_0013282	NANDO:2200611
C2673377	MedGen UID:435914	Mucolipidosis type II	http://www.ncbi.nlm.nih.gov/medgen/435914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009650	http://purl.obolibrary.org/obo/MONDO_0009650	NANDO:2200567
C2931872	MedGen UID:419512	Free sialic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/419512	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019366	http://purl.obolibrary.org/obo/MONDO_0019366	NANDO:2200572
C2939465	MedGen UID:473706	G6PD deficiency	http://www.ncbi.nlm.nih.gov/medgen/473706	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005775	http://purl.obolibrary.org/obo/MONDO_0005775	NANDO:2200627
C0022716	MedGen UID:44030	Menkes kinky-hair syndrome	http://www.ncbi.nlm.nih.gov/medgen/44030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010651	http://purl.obolibrary.org/obo/MONDO_0010651	NANDO:2200580
C0023374	MedGen UID:9721	Lesch-Nyhan syndrome	http://www.ncbi.nlm.nih.gov/medgen/9721	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010298	http://purl.obolibrary.org/obo/MONDO_0010298	NANDO:2200586
C0023521	MedGen UID:44131	Galactosylceramide beta-galactosidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/44131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009499	http://purl.obolibrary.org/obo/MONDO_0009499	NANDO:2200564
C0023795	MedGen UID:6112	Lipid proteinosis	http://www.ncbi.nlm.nih.gov/medgen/6112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009530	http://purl.obolibrary.org/obo/MONDO_0009530	NANDO:2200608
C0027877	MedGen UID:10326	Neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/10326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016295	http://purl.obolibrary.org/obo/MONDO_0016295	NANDO:2200573
C0268120	MedGen UID:82772	Adenine phosphoribosyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013869	http://purl.obolibrary.org/obo/MONDO_0013869	NANDO:2200587
C0268255	MedGen UID:78654	Farber lipogranulomatosis	http://www.ncbi.nlm.nih.gov/medgen/78654	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009218	http://purl.obolibrary.org/obo/MONDO_0009218	NANDO:2200565
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:2200566
C0268353	MedGen UID:82793	Cutis laxa, X-linked	http://www.ncbi.nlm.nih.gov/medgen/82793	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010572	http://purl.obolibrary.org/obo/MONDO_0010572	NANDO:2200581
C0268624	MedGen UID:78695	Sulfite oxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/78695	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010089	http://purl.obolibrary.org/obo/MONDO_0010089	NANDO:2200583
C0268631	MedGen UID:124340	Succinate-semialdehyde dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/124340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010083	http://purl.obolibrary.org/obo/MONDO_0010083	NANDO:2200599
C0520739	MedGen UID:141708	Pyropoikilocytosis, hereditary	http://www.ncbi.nlm.nih.gov/medgen/141708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009948	http://purl.obolibrary.org/obo/MONDO_0009948	NANDO:2200631
C0521802	MedGen UID:105489	Atransferrinemia	http://www.ncbi.nlm.nih.gov/medgen/105489	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008846	http://purl.obolibrary.org/obo/MONDO_0008846	NANDO:2200617
C1260899	MedGen UID:266045	Diamond-Blackfan anemia	http://www.ncbi.nlm.nih.gov/medgen/266045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015253	http://purl.obolibrary.org/obo/MONDO_0015253	NANDO:2200614
C1262483	MedGen UID:490161	Hereditary stomatocytosis	http://www.ncbi.nlm.nih.gov/medgen/490161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020102	http://purl.obolibrary.org/obo/MONDO_0020102	NANDO:2200623
C1264008	MedGen UID:688249	Cold agglutinin disease	http://www.ncbi.nlm.nih.gov/medgen/688249	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018922	http://purl.obolibrary.org/obo/MONDO_0018922	NANDO:2200618
C1275125	MedGen UID:698423	Inherited porphyria	http://www.ncbi.nlm.nih.gov/medgen/698423	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019142	http://purl.obolibrary.org/obo/MONDO_0019142	NANDO:2200610
C3713420	MedGen UID:780028	Familial hyperaldosteronism	http://www.ncbi.nlm.nih.gov/medgen/780028	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016525	http://purl.obolibrary.org/obo/MONDO_0016525	NANDO:2200602
C4707560	MedGen UID:1647585	Adult pure red cell aplasia	http://www.ncbi.nlm.nih.gov/medgen/1647585	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020338	http://purl.obolibrary.org/obo/MONDO_0020338	NANDO:2200613
C4746777	MedGen UID:1648402	Orthostatic hypotension 1	http://www.ncbi.nlm.nih.gov/medgen/1648402	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009123	http://purl.obolibrary.org/obo/MONDO_0009123	NANDO:2200597
C0086774	MedGen UID:39693	Paroxysmal cold hemoglobinuria	http://www.ncbi.nlm.nih.gov/medgen/39693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019533	http://purl.obolibrary.org/obo/MONDO_0019533	NANDO:2200619
C0151691	MedGen UID:57731	Decreased HDL cholesterol concentration	http://www.ncbi.nlm.nih.gov/medgen/57731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017773	http://purl.obolibrary.org/obo/MONDO_0017773	NANDO:2200605
C0340968	MedGen UID:473069	Pyruvate kinase deficiency of red cells	http://www.ncbi.nlm.nih.gov/medgen/473069	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009950	http://purl.obolibrary.org/obo/MONDO_0009950	NANDO:2200628
C0342705	MedGen UID:83348	Congenital defect of folate absorption	http://www.ncbi.nlm.nih.gov/medgen/83348	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009238	http://purl.obolibrary.org/obo/MONDO_0009238	NANDO:2200592
C0342708	MedGen UID:137977	Gamma-aminobutyric acid transaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/137977	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013166	http://purl.obolibrary.org/obo/MONDO_0013166	NANDO:2200598
C0700623	MedGen UID:675194	Familial hyperlipidemia	http://www.ncbi.nlm.nih.gov/medgen/675194	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001336	http://purl.obolibrary.org/obo/MONDO_0001336	NANDO:2200603
C0745103	MedGen UID:152875	Hypercholesterolemia, familial, 1	http://www.ncbi.nlm.nih.gov/medgen/152875	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007750	http://purl.obolibrary.org/obo/MONDO_0007750	NANDO:2200602
C0033788	MedGen UID:10988	Pseudo-Hurler polydystrophy	http://www.ncbi.nlm.nih.gov/medgen/10988	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018931	http://purl.obolibrary.org/obo/MONDO_0018931	NANDO:2200568
C0034960	MedGen UID:11161	Phytanic acid storage disease	http://www.ncbi.nlm.nih.gov/medgen/11161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009958	http://purl.obolibrary.org/obo/MONDO_0009958	NANDO:2200577
C0037889	MedGen UID:52450	Hereditary spherocytosis	http://www.ncbi.nlm.nih.gov/medgen/52450	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019350	http://purl.obolibrary.org/obo/MONDO_0019350	NANDO:2200622
C0039730	MedGen UID:21121	Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/21121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000984	http://purl.obolibrary.org/obo/MONDO_0000984	NANDO:2200626
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:2200570
C0272006	MedGen UID:82893	Unstable hemoglobin disease	http://www.ncbi.nlm.nih.gov/medgen/82893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020459	http://purl.obolibrary.org/obo/MONDO_0020459	NANDO:2200625
C0272051	MedGen UID:124415	Xerocytosis	http://www.ncbi.nlm.nih.gov/medgen/124415	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017910	http://purl.obolibrary.org/obo/MONDO_0017910	NANDO:2200633
C1867339	MedGen UID:357960	Red cell phospholipid defect with hemolysis	http://www.ncbi.nlm.nih.gov/medgen/357960	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008367	http://purl.obolibrary.org/obo/MONDO_0008367	NANDO:2200634
C4316899	MedGen UID:1384792	Cystinosis	http://www.ncbi.nlm.nih.gov/medgen/1384792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016239	http://purl.obolibrary.org/obo/MONDO_0016239	NANDO:2200571
C0013720	MedGen UID:41720	Ehlers-Danlos syndrome	http://www.ncbi.nlm.nih.gov/medgen/41720	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020066	http://purl.obolibrary.org/obo/MONDO_0020066	NANDO:2200607
C0013902	MedGen UID:41747	Hereditary elliptocytosis	http://www.ncbi.nlm.nih.gov/medgen/41747	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017319	http://purl.obolibrary.org/obo/MONDO_0017319	NANDO:2200630
C0017921	MedGen UID:5340	Glycogen storage disease, type II	http://www.ncbi.nlm.nih.gov/medgen/5340	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009290	http://purl.obolibrary.org/obo/MONDO_0009290	NANDO:2200569
C0019021	MedGen UID:6789	Hemoglobin C disease	http://www.ncbi.nlm.nih.gov/medgen/6789	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016242	http://purl.obolibrary.org/obo/MONDO_0016242	NANDO:2200635
C0019202	MedGen UID:42426	Wilson disease	http://www.ncbi.nlm.nih.gov/medgen/42426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010200	http://purl.obolibrary.org/obo/MONDO_0010200	NANDO:2200579
C0020445	MedGen UID:5688	Familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/5688	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005439	http://purl.obolibrary.org/obo/MONDO_0005439	NANDO:2200602
C0751436	MedGen UID:199656	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	http://www.ncbi.nlm.nih.gov/medgen/199656	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016543	http://purl.obolibrary.org/obo/MONDO_0016543	NANDO:2200594
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:2200582
C1291564	MedGen UID:220945	Deficiency of aromatic-L-amino-acid decarboxylase	http://www.ncbi.nlm.nih.gov/medgen/220945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012084	http://purl.obolibrary.org/obo/MONDO_0012084	NANDO:2200596
C5700309	MedGen UID:1814581	Tyrosine hydroxylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/1814581	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100064	http://purl.obolibrary.org/obo/MONDO_0100064	NANDO:2200595
CN305342	MedGen UID:988564	Hypoxanthine-guanine phosphoribosyltransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/988564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016088	http://purl.obolibrary.org/obo/MONDO_0016088	NANDO:2200586
C0002878	MedGen UID:1916	Hemolytic anemia	http://www.ncbi.nlm.nih.gov/medgen/1916	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003664	http://purl.obolibrary.org/obo/MONDO_0003664	NANDO:2200636
C1856143	MedGen UID:383843	Shiga toxin-associated hemolytic uremic syndrome	http://www.ncbi.nlm.nih.gov/medgen/383843	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019536	http://purl.obolibrary.org/obo/MONDO_0019536	NANDO:2200640
C0032463	MedGen UID:45996	Acquired polycythemia vera	http://www.ncbi.nlm.nih.gov/medgen/45996	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009891	http://purl.obolibrary.org/obo/MONDO_0009891	NANDO:2200643
C0020532	MedGen UID:9372	Hypersplenism	http://www.ncbi.nlm.nih.gov/medgen/9372	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006795	http://purl.obolibrary.org/obo/MONDO_0006795	NANDO:2200637
C0012739	MedGen UID:41620	Disseminated intravascular coagulation	http://www.ncbi.nlm.nih.gov/medgen/41620	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001243	http://purl.obolibrary.org/obo/MONDO_0001243	NANDO:2200639
C1832388	MedGen UID:321945	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	http://www.ncbi.nlm.nih.gov/medgen/321945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100083	http://purl.obolibrary.org/obo/MONDO_0100083	NANDO:2200662
C1853278	MedGen UID:344008	Platelet-type bleeding disorder 8	http://www.ncbi.nlm.nih.gov/medgen/344008	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012354	http://purl.obolibrary.org/obo/MONDO_0012354	NANDO:2200669
C1854273	MedGen UID:340183	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	http://www.ncbi.nlm.nih.gov/medgen/340183	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011555	http://purl.obolibrary.org/obo/MONDO_0011555	NANDO:2200660
C0002874	MedGen UID:8063	Aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/8063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015909	http://purl.obolibrary.org/obo/MONDO_0015909	NANDO:2200693
C0005129	MedGen UID:2212	Bernard Soulier syndrome	http://www.ncbi.nlm.nih.gov/medgen/2212	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009276	http://purl.obolibrary.org/obo/MONDO_0009276	NANDO:2200656
C0008533	MedGen UID:945	Hereditary factor IX deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/945	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010604	http://purl.obolibrary.org/obo/MONDO_0010604	NANDO:2200677
C0012236	MedGen UID:4297	DiGeorge syndrome	http://www.ncbi.nlm.nih.gov/medgen/4297	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008564	http://purl.obolibrary.org/obo/MONDO_0008564	NANDO:2200712
C0175703	MedGen UID:61235	Radial aplasia-thrombocytopenia syndrome	http://www.ncbi.nlm.nih.gov/medgen/61235	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010121	http://purl.obolibrary.org/obo/MONDO_0010121	NANDO:2200661
C0220704	MedGen UID:65085	Velocardiofacial syndrome	http://www.ncbi.nlm.nih.gov/medgen/65085	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008644	http://purl.obolibrary.org/obo/MONDO_0008644	NANDO:2200712
C2584774	MedGen UID:749036	Congenital afibrinogenemia	http://www.ncbi.nlm.nih.gov/medgen/749036	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008737	http://purl.obolibrary.org/obo/MONDO_0008737	NANDO:2200672
C2931418	MedGen UID:444051	MHC class II deficiency	http://www.ncbi.nlm.nih.gov/medgen/444051	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008855	http://purl.obolibrary.org/obo/MONDO_0008855	NANDO:2200702
C0026987	MedGen UID:10146	Myelofibrosis	http://www.ncbi.nlm.nih.gov/medgen/10146	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044903	http://purl.obolibrary.org/obo/MONDO_0044903	NANDO:2200692
C0268125	MedGen UID:75653	Purine-nucleoside phosphorylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013171	http://purl.obolibrary.org/obo/MONDO_0013171	NANDO:2200698
C0398650	MedGen UID:584986	Autoimmune thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/584986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008558	http://purl.obolibrary.org/obo/MONDO_0008558	NANDO:2200645
C1279481	MedGen UID:220906	X-linked severe combined immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/220906	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010315	http://purl.obolibrary.org/obo/MONDO_0010315	NANDO:2200694
C1280798	MedGen UID:226914	Pseudo von Willebrand disease	http://www.ncbi.nlm.nih.gov/medgen/226914	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008332	http://purl.obolibrary.org/obo/MONDO_0008332	NANDO:2200668
C1856883	MedGen UID:384006	Combined deficiency of factor V and factor VIII	http://www.ncbi.nlm.nih.gov/medgen/384006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018175	http://purl.obolibrary.org/obo/MONDO_0018175	NANDO:2200686
C1858266	MedGen UID:346868	MHC class I deficiency	http://www.ncbi.nlm.nih.gov/medgen/346868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011476	http://purl.obolibrary.org/obo/MONDO_0011476	NANDO:2200701
C1861185	MedGen UID:349976	Thrombocytopenia 2	http://www.ncbi.nlm.nih.gov/medgen/349976	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008555	http://purl.obolibrary.org/obo/MONDO_0008555	NANDO:2200663
C1863236	MedGen UID:354935	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	http://www.ncbi.nlm.nih.gov/medgen/354935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007064	http://purl.obolibrary.org/obo/MONDO_0007064	NANDO:2200696
C3280120	MedGen UID:481750	Platelet-type bleeding disorder 11	http://www.ncbi.nlm.nih.gov/medgen/481750	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013623	http://purl.obolibrary.org/obo/MONDO_0013623	NANDO:2200670
C3554663	MedGen UID:767577	Platelet-type bleeding disorder 15	http://www.ncbi.nlm.nih.gov/medgen/767577	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014078	http://purl.obolibrary.org/obo/MONDO_0014078	NANDO:2200665
C0152264	MedGen UID:57520	Familial erythrocytosis	http://www.ncbi.nlm.nih.gov/medgen/57520	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001115	http://purl.obolibrary.org/obo/MONDO_0001115	NANDO:2200644
C0598221	MedGen UID:671121	Hereditary thrombophilia due to congenital protein C deficiency	http://www.ncbi.nlm.nih.gov/medgen/671121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019145	http://purl.obolibrary.org/obo/MONDO_0019145	NANDO:2200689
C1837065	MedGen UID:323058	Susceptibility to respiratory infections associated with CD8alpha chain mutation	http://www.ncbi.nlm.nih.gov/medgen/323058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012161	http://purl.obolibrary.org/obo/MONDO_0012161	NANDO:2200699
C3854603	MedGen UID:1720701	Fetal and neonatal alloimmune thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/1720701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019415	http://purl.obolibrary.org/obo/MONDO_0019415	NANDO:2200647
C5575025	MedGen UID:1809040	Combined immunodeficiency due to ZAP70 deficiency	http://www.ncbi.nlm.nih.gov/medgen/1809040	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010023	http://purl.obolibrary.org/obo/MONDO_0010023	NANDO:2200700
C0034155	MedGen UID:48266	Thrombotic thrombocytopenic purpura	http://www.ncbi.nlm.nih.gov/medgen/48266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018896	http://purl.obolibrary.org/obo/MONDO_0018896	NANDO:2200649
C0040028	MedGen UID:11797	Essential thrombocythemia	http://www.ncbi.nlm.nih.gov/medgen/11797	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005029	http://purl.obolibrary.org/obo/MONDO_0005029	NANDO:2200655
C0042974	MedGen UID:22686	von Willebrand disorder	http://www.ncbi.nlm.nih.gov/medgen/22686	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024574	http://purl.obolibrary.org/obo/MONDO_0024574	NANDO:2200682
C0043194	MedGen UID:21921	Wiskott-Aldrich syndrome	http://www.ncbi.nlm.nih.gov/medgen/21921	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010518	http://purl.obolibrary.org/obo/MONDO_0010518	NANDO:2200704
C0272167	MedGen UID:124417	Reticular dysgenesis	http://www.ncbi.nlm.nih.gov/medgen/124417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009973	http://purl.obolibrary.org/obo/MONDO_0009973	NANDO:2200695
C0272282	MedGen UID:78799	Cyclic thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/78799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008556	http://purl.obolibrary.org/obo/MONDO_0008556	NANDO:2200653
C0272285	MedGen UID:124423	Heparin-induced thrombocytopenia	http://www.ncbi.nlm.nih.gov/medgen/124423	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018048	http://purl.obolibrary.org/obo/MONDO_0018048	NANDO:2200648
C0272317	MedGen UID:124425	Congenital prothrombin deficiency	http://www.ncbi.nlm.nih.gov/medgen/124425	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013361	http://purl.obolibrary.org/obo/MONDO_0013361	NANDO:2200673
C0272339	MedGen UID:75779	Prekallikrein deficiency	http://www.ncbi.nlm.nih.gov/medgen/75779	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0044744	http://purl.obolibrary.org/obo/MONDO_0044744	NANDO:2200684
C0272340	MedGen UID:75780	High molecular weight kininogen deficiency	http://www.ncbi.nlm.nih.gov/medgen/75780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009234	http://purl.obolibrary.org/obo/MONDO_0009234	NANDO:2200685
C2700553	MedGen UID:398130	Histiocytic medullary reticulosis	http://www.ncbi.nlm.nih.gov/medgen/398130	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011338	http://purl.obolibrary.org/obo/MONDO_0011338	NANDO:2200697
C2750067	MedGen UID:412870	Congenital plasminogen activator inhibitor type 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/412870	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	NANDO:2200688
C2752081	MedGen UID:414178	Alpha-2-plasmin inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/414178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	NANDO:2200687
C4316906	MedGen UID:1385982	Factor XIII deficiency	http://www.ncbi.nlm.nih.gov/medgen/1385982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002241	http://purl.obolibrary.org/obo/MONDO_0002241	NANDO:2200681
C4317320	MedGen UID:1369551	Factor V deficiency	http://www.ncbi.nlm.nih.gov/medgen/1369551	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020586	http://purl.obolibrary.org/obo/MONDO_0020586	NANDO:2200674
C4321502	MedGen UID:1386956	Factor XI deficiency	http://www.ncbi.nlm.nih.gov/medgen/1386956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020587	http://purl.obolibrary.org/obo/MONDO_0020587	NANDO:2200679
C0015503	MedGen UID:8769	Factor VII deficiency	http://www.ncbi.nlm.nih.gov/medgen/8769	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002244	http://purl.obolibrary.org/obo/MONDO_0002244	NANDO:2200675
C0015519	MedGen UID:4635	Factor X deficiency	http://www.ncbi.nlm.nih.gov/medgen/4635	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002247	http://purl.obolibrary.org/obo/MONDO_0002247	NANDO:2200678
C0015526	MedGen UID:8772	Factor XII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/8772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009315	http://purl.obolibrary.org/obo/MONDO_0009315	NANDO:2200680
C0015530	MedGen UID:4639	Hereditary factor XIII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/4639	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018029	http://purl.obolibrary.org/obo/MONDO_0018029	NANDO:2200681
C0015625	MedGen UID:41967	Fanconi anemia	http://www.ncbi.nlm.nih.gov/medgen/41967	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019391	http://purl.obolibrary.org/obo/MONDO_0019391	NANDO:2200652
C0019069	MedGen UID:5501	Hereditary factor VIII deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/5501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010602	http://purl.obolibrary.org/obo/MONDO_0010602	NANDO:2200676
C0242666	MedGen UID:69229	Protein S deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/69229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002304	http://purl.obolibrary.org/obo/MONDO_0002304	NANDO:2200690
C0796149	MedGen UID:167107	SCOTT SYNDROME	http://www.ncbi.nlm.nih.gov/medgen/167107	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009885	http://purl.obolibrary.org/obo/MONDO_0009885	NANDO:2200671
CN294181	MedGen UID:977689	22q11.2 deletion syndrome	http://www.ncbi.nlm.nih.gov/medgen/977689	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018923	http://purl.obolibrary.org/obo/MONDO_0018923	NANDO:2200712
CN305372	MedGen UID:987194	Inherited prekallikrein deficiency	http://www.ncbi.nlm.nih.gov/medgen/987194	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012901	http://purl.obolibrary.org/obo/MONDO_0012901	NANDO:2200684
C0004135	MedGen UID:439	Ataxia-telangiectasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/439	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008840	http://purl.obolibrary.org/obo/MONDO_0008840	NANDO:2200705
C0005859	MedGen UID:2685	Bloom syndrome	http://www.ncbi.nlm.nih.gov/medgen/2685	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008876	http://purl.obolibrary.org/obo/MONDO_0008876	NANDO:2200707
C0007965	MedGen UID:3347	Chédiak-Higashi syndrome	http://www.ncbi.nlm.nih.gov/medgen/3347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008963	http://purl.obolibrary.org/obo/MONDO_0008963	NANDO:2200724
C0009447	MedGen UID:40407	Common variable immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/40407	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015517	http://purl.obolibrary.org/obo/MONDO_0015517	NANDO:2200717
C0221026	MedGen UID:65123	X-linked agammaglobulinemia	http://www.ncbi.nlm.nih.gov/medgen/65123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010421	http://purl.obolibrary.org/obo/MONDO_0010421	NANDO:2200716
C2677792	MedGen UID:394368	RIDDLE syndrome	http://www.ncbi.nlm.nih.gov/medgen/394368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012764	http://purl.obolibrary.org/obo/MONDO_0012764	NANDO:2200710
C0265965	MedGen UID:78580	Dyskeratosis congenita	http://www.ncbi.nlm.nih.gov/medgen/78580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015780	http://purl.obolibrary.org/obo/MONDO_0015780	NANDO:2200715
C0398788	MedGen UID:140770	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140770	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000133	http://purl.obolibrary.org/obo/MONDO_0000133	NANDO:2200708
C0398791	MedGen UID:140771	Microcephaly, normal intelligence and immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/140771	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009623	http://purl.obolibrary.org/obo/MONDO_0009623	NANDO:2200706
C0549463	MedGen UID:107498	X-linked lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/107498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010627	http://purl.obolibrary.org/obo/MONDO_0010627	NANDO:2200725
C1856128	MedGen UID:344659	Hepatic veno-occlusive disease-immunodeficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/344659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009338	http://purl.obolibrary.org/obo/MONDO_0009338	NANDO:2200714
C3279824	MedGen UID:481454	Recurrent infections associated with rare immunoglobulin isotypes deficiency	http://www.ncbi.nlm.nih.gov/medgen/481454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013576	http://purl.obolibrary.org/obo/MONDO_0013576	NANDO:2200719
C3887645	MedGen UID:854488	Hyper-IgE syndrome	http://www.ncbi.nlm.nih.gov/medgen/854488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018037	http://purl.obolibrary.org/obo/MONDO_0018037	NANDO:2200713
C0272236	MedGen UID:124420	Hyperimmunoglobulin M syndrome	http://www.ncbi.nlm.nih.gov/medgen/124420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003947	http://purl.obolibrary.org/obo/MONDO_0003947	NANDO:2200718
C0272238	MedGen UID:124421	Transient hypogammaglobulinemia of infancy	http://www.ncbi.nlm.nih.gov/medgen/124421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015698	http://purl.obolibrary.org/obo/MONDO_0015698	NANDO:2200722
C0877024	MedGen UID:164078	Schimke immuno-osseous dysplasia	http://www.ncbi.nlm.nih.gov/medgen/164078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009458	http://purl.obolibrary.org/obo/MONDO_0009458	NANDO:2200711
C4049006	MedGen UID:883982	Selective IgA deficiency disease	http://www.ncbi.nlm.nih.gov/medgen/883982	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001341	http://purl.obolibrary.org/obo/MONDO_0001341	NANDO:2200720
CN301239	MedGen UID:985772	Autoimmune lymphoproliferative syndrome	http://www.ncbi.nlm.nih.gov/medgen/985772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017979	http://purl.obolibrary.org/obo/MONDO_0017979	NANDO:2200726
C1852700	MedGen UID:343867	C1 inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/343867	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007361	http://purl.obolibrary.org/obo/MONDO_0007361	NANDO:2200795
C0221023	MedGen UID:65121	Cyclical neutropenia	http://www.ncbi.nlm.nih.gov/medgen/65121	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008090	http://purl.obolibrary.org/obo/MONDO_0008090	NANDO:2200746
C0041227	MedGen UID:52872	Trypanosomiasis	http://www.ncbi.nlm.nih.gov/medgen/52872	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000940	http://purl.obolibrary.org/obo/MONDO_0000940	NANDO:2200774
C0272242	MedGen UID:82898	Reduced circulating complement concentration	http://www.ncbi.nlm.nih.gov/medgen/82898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003832	http://purl.obolibrary.org/obo/MONDO_0003832	NANDO:2200776
C1846545	MedGen UID:339548	Autoimmune lymphoproliferative syndrome type 2B	http://www.ncbi.nlm.nih.gov/medgen/339548	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011804	http://purl.obolibrary.org/obo/MONDO_0011804	NANDO:2200740
C1853118	MedGen UID:343974	Severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/343974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018542	http://purl.obolibrary.org/obo/MONDO_0018542	NANDO:2200745
C1853392	MedGen UID:377894	Immunodeficiency due to CD25 deficiency	http://www.ncbi.nlm.nih.gov/medgen/377894	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011664	http://purl.obolibrary.org/obo/MONDO_0011664	NANDO:2200736
C0006845	MedGen UID:2426	Chronic mucocutaneous candidiasis	http://www.ncbi.nlm.nih.gov/medgen/2426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015279	http://purl.obolibrary.org/obo/MONDO_0015279	NANDO:2200764
C1970455	MedGen UID:369736	Systemic lupus erythematosus, susceptibility to, 9	http://www.ncbi.nlm.nih.gov/medgen/369736	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012584	http://purl.obolibrary.org/obo/MONDO_0012584	NANDO:2200801
C2676232	MedGen UID:436639	Complement component 6 deficiency	http://www.ncbi.nlm.nih.gov/medgen/436639	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012908	http://purl.obolibrary.org/obo/MONDO_0012908	NANDO:2200784
C2677092	MedGen UID:383023	Pyogenic bacterial infections due to MyD88 deficiency	http://www.ncbi.nlm.nih.gov/medgen/383023	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012839	http://purl.obolibrary.org/obo/MONDO_0012839	NANDO:2200763
C3150275	MedGen UID:461625	Complement component 2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/461625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009006	http://purl.obolibrary.org/obo/MONDO_0009006	NANDO:2200781
C3150649	MedGen UID:461999	Syndromic multisystem autoimmune disease due to ITCH deficiency	http://www.ncbi.nlm.nih.gov/medgen/461999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013245	http://purl.obolibrary.org/obo/MONDO_0013245	NANDO:2200739
C3150902	MedGen UID:462252	C1Q deficiency	http://www.ncbi.nlm.nih.gov/medgen/462252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013343	http://purl.obolibrary.org/obo/MONDO_0013343	NANDO:2200777
C3151062	MedGen UID:462412	FADD-related immunodeficiency	http://www.ncbi.nlm.nih.gov/medgen/462412	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013408	http://purl.obolibrary.org/obo/MONDO_0013408	NANDO:2200741
C3151071	MedGen UID:462421	Complement component 3 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013417	http://purl.obolibrary.org/obo/MONDO_0013417	NANDO:2200782
C3151078	MedGen UID:462428	Complement component C1s deficiency	http://www.ncbi.nlm.nih.gov/medgen/462428	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013419	http://purl.obolibrary.org/obo/MONDO_0013419	NANDO:2200779
C3151085	MedGen UID:462435	Immunodeficiency due to MASP-2 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013423	http://purl.obolibrary.org/obo/MONDO_0013423	NANDO:2200793
C3151189	MedGen UID:462539	Complement component 9 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013445	http://purl.obolibrary.org/obo/MONDO_0013445	NANDO:2200787
C3151226	MedGen UID:462576	Immunodeficiency due to ficolin3 deficiency	http://www.ncbi.nlm.nih.gov/medgen/462576	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013467	http://purl.obolibrary.org/obo/MONDO_0013467	NANDO:2200794
C0398595	MedGen UID:96015	Myeloperoxidase deficiency	http://www.ncbi.nlm.nih.gov/medgen/96015	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009694	http://purl.obolibrary.org/obo/MONDO_0009694	NANDO:2200758
C0398764	MedGen UID:97989	Recurrent Neisseria infections due to factor D deficiency	http://www.ncbi.nlm.nih.gov/medgen/97989	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013487	http://purl.obolibrary.org/obo/MONDO_0013487	NANDO:2200788
C0398777	MedGen UID:96024	Factor H deficiency	http://www.ncbi.nlm.nih.gov/medgen/96024	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012350	http://purl.obolibrary.org/obo/MONDO_0012350	NANDO:2200791
C1858723	MedGen UID:388129	Poikiloderma with neutropenia	http://www.ncbi.nlm.nih.gov/medgen/388129	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011405	http://purl.obolibrary.org/obo/MONDO_0011405	NANDO:2200749
C1859353	MedGen UID:347128	Predisposition to invasive fungal disease due to CARD9 deficiency	http://www.ncbi.nlm.nih.gov/medgen/347128	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008905	http://purl.obolibrary.org/obo/MONDO_0008905	NANDO:2200773
C3266863	MedGen UID:473805	Inherited susceptibility to mycobacterial diseases	http://www.ncbi.nlm.nih.gov/medgen/473805	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019146	http://purl.obolibrary.org/obo/MONDO_0019146	NANDO:2200759
C3463916	MedGen UID:483045	Factor I deficiency	http://www.ncbi.nlm.nih.gov/medgen/483045	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012594	http://purl.obolibrary.org/obo/MONDO_0012594	NANDO:2200790
C3542922	MedGen UID:762276	Immunodeficiency, common variable, 7	http://www.ncbi.nlm.nih.gov/medgen/762276	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013862	http://purl.obolibrary.org/obo/MONDO_0013862	NANDO:2200801
C3552634	MedGen UID:765548	Lymphoproliferative syndrome 1	http://www.ncbi.nlm.nih.gov/medgen/765548	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013081	http://purl.obolibrary.org/obo/MONDO_0013081	NANDO:2200734
C3809950	MedGen UID:816280	Complement factor b deficiency	http://www.ncbi.nlm.nih.gov/medgen/816280	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014255	http://purl.obolibrary.org/obo/MONDO_0014255	NANDO:2200797
C4225260	MedGen UID:904009	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	http://www.ncbi.nlm.nih.gov/medgen/904009	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014715	http://purl.obolibrary.org/obo/MONDO_0014715	NANDO:2200770
C0085859	MedGen UID:39125	Polyglandular autoimmune syndrome, type 1	http://www.ncbi.nlm.nih.gov/medgen/39125	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009411	http://purl.obolibrary.org/obo/MONDO_0009411	NANDO:2200738
C0343047	MedGen UID:91003	Complement component 5 deficiency	http://www.ncbi.nlm.nih.gov/medgen/91003	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012295	http://purl.obolibrary.org/obo/MONDO_0012295	NANDO:2200783
C0685889	MedGen UID:151935	Familial isolated congenital asplenia	http://www.ncbi.nlm.nih.gov/medgen/151935	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010066	http://purl.obolibrary.org/obo/MONDO_0010066	NANDO:2200775
C1835829	MedGen UID:372135	Primary immunodeficiency syndrome due to p14 deficiency	http://www.ncbi.nlm.nih.gov/medgen/372135	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012559	http://purl.obolibrary.org/obo/MONDO_0012559	NANDO:2200752
C1837174	MedGen UID:332383	Familial hemophagocytic lymphohistiocytosis 3	http://www.ncbi.nlm.nih.gov/medgen/332383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012146	http://purl.obolibrary.org/obo/MONDO_0012146	NANDO:2200729
C1839454	MedGen UID:333322	Properdin deficiency, X-linked	http://www.ncbi.nlm.nih.gov/medgen/333322	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010713	http://purl.obolibrary.org/obo/MONDO_0010713	NANDO:2200789
C1842362	MedGen UID:374912	Hermansky-Pudlak syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/374912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011997	http://purl.obolibrary.org/obo/MONDO_0011997	NANDO:2200733
C1842763	MedGen UID:375009	Spondyloenchondrodysplasia with immune dysregulation	http://www.ncbi.nlm.nih.gov/medgen/375009	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011939	http://purl.obolibrary.org/obo/MONDO_0011939	NANDO:2200744
C1843256	MedGen UID:375137	Immunodeficiency 67	http://www.ncbi.nlm.nih.gov/medgen/375137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011888	http://purl.obolibrary.org/obo/MONDO_0011888	NANDO:2200762
C1845987	MedGen UID:335314	X-linked severe congenital neutropenia	http://www.ncbi.nlm.nih.gov/medgen/335314	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010294	http://purl.obolibrary.org/obo/MONDO_0010294	NANDO:2200753
C1846006	MedGen UID:375786	Ectodermal dysplasia and immune deficiency	http://www.ncbi.nlm.nih.gov/medgen/375786	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010293	http://purl.obolibrary.org/obo/MONDO_0010293	NANDO:2200761
C4014605	MedGen UID:863042	Polyglucosan body myopathy type 1	http://www.ncbi.nlm.nih.gov/medgen/863042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014389	http://purl.obolibrary.org/obo/MONDO_0014389	NANDO:2200766
C0037917	MedGen UID:21277	Spina bifida cystica	http://www.ncbi.nlm.nih.gov/medgen/21277	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017069	http://purl.obolibrary.org/obo/MONDO_0017069	NANDO:2200814
C0272170	MedGen UID:124418	Shwachman syndrome	http://www.ncbi.nlm.nih.gov/medgen/124418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009833	http://purl.obolibrary.org/obo/MONDO_0009833	NANDO:2200756
C0272187	MedGen UID:124419	Leukocyte adhesion deficiency	http://www.ncbi.nlm.nih.gov/medgen/124419	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017570	http://purl.obolibrary.org/obo/MONDO_0017570	NANDO:2200755
C0276226	MedGen UID:75794	Herpes simplex encephalitis	http://www.ncbi.nlm.nih.gov/medgen/75794	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012521	http://purl.obolibrary.org/obo/MONDO_0012521	NANDO:2200772
C1863727	MedGen UID:400366	Familial hemophagocytic lymphohistiocytosis 2	http://www.ncbi.nlm.nih.gov/medgen/400366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011337	http://purl.obolibrary.org/obo/MONDO_0011337	NANDO:2200728
C1863728	MedGen UID:350245	Familial hemophagocytic lymphohistiocytosis 4	http://www.ncbi.nlm.nih.gov/medgen/350245	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011336	http://purl.obolibrary.org/obo/MONDO_0011336	NANDO:2200730
C1864694	MedGen UID:355270	Complement component 7 deficiency	http://www.ncbi.nlm.nih.gov/medgen/355270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012412	http://purl.obolibrary.org/obo/MONDO_0012412	NANDO:2200785
C1864947	MedGen UID:351256	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	http://www.ncbi.nlm.nih.gov/medgen/351256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012383	http://purl.obolibrary.org/obo/MONDO_0012383	NANDO:2200771
C1868679	MedGen UID:357030	Griscelli syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/357030	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011872	http://purl.obolibrary.org/obo/MONDO_0011872	NANDO:2200732
C2751293	MedGen UID:416514	Familial hemophagocytic lymphohistiocytosis 5	http://www.ncbi.nlm.nih.gov/medgen/416514	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013135	http://purl.obolibrary.org/obo/MONDO_0013135	NANDO:2200731
C2752040	MedGen UID:414167	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	http://www.ncbi.nlm.nih.gov/medgen/414167	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013040	http://purl.obolibrary.org/obo/MONDO_0013040	NANDO:2200803
C4303860	MedGen UID:929529	3MC syndrome	http://www.ncbi.nlm.nih.gov/medgen/929529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017398	http://purl.obolibrary.org/obo/MONDO_0017398	NANDO:2200792
C5435698	MedGen UID:1734133	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	http://www.ncbi.nlm.nih.gov/medgen/1734133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100211	http://purl.obolibrary.org/obo/MONDO_0100211	NANDO:2200737
C0014522	MedGen UID:41831	Epidermodysplasia verruciformis	http://www.ncbi.nlm.nih.gov/medgen/41831	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009176	http://purl.obolibrary.org/obo/MONDO_0009176	NANDO:2200768
C0018203	MedGen UID:5377	Chronic granulomatous disease	http://www.ncbi.nlm.nih.gov/medgen/5377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018305	http://purl.obolibrary.org/obo/MONDO_0018305	NANDO:2200757
C0019243	MedGen UID:9229	Hereditary angioneurotic edema	http://www.ncbi.nlm.nih.gov/medgen/9229	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019623	http://purl.obolibrary.org/obo/MONDO_0019623	NANDO:2200795
C0574083	MedGen UID:107893	3-Methylglutaconic aciduria type 2	http://www.ncbi.nlm.nih.gov/medgen/107893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010543	http://purl.obolibrary.org/obo/MONDO_0010543	NANDO:2200751
C1540912	MedGen UID:280990	Hypereosinophilic syndrome	http://www.ncbi.nlm.nih.gov/medgen/280990	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015691	http://purl.obolibrary.org/obo/MONDO_0015691	NANDO:2200805
C0001175	MedGen UID:99	AIDS	http://www.ncbi.nlm.nih.gov/medgen/99	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012268	http://purl.obolibrary.org/obo/MONDO_0012268	NANDO:2200809
C2676767	MedGen UID:393582	Primary CD59 deficiency	http://www.ncbi.nlm.nih.gov/medgen/393582	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012858	http://purl.obolibrary.org/obo/MONDO_0012858	NANDO:2200804
C0025312	MedGen UID:7538	Myelomeningocele	http://www.ncbi.nlm.nih.gov/medgen/7538	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019773	http://purl.obolibrary.org/obo/MONDO_0019773	NANDO:2200814
C0266456	MedGen UID:82743	Meningoencephalocele	http://www.ncbi.nlm.nih.gov/medgen/82743	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017079	http://purl.obolibrary.org/obo/MONDO_0017079	NANDO:2200813
C0266463	MedGen UID:78604	Lissencephaly	http://www.ncbi.nlm.nih.gov/medgen/78604	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018838	http://purl.obolibrary.org/obo/MONDO_0018838	NANDO:2200817
C0266484	MedGen UID:78606	Schizencephaly	http://www.ncbi.nlm.nih.gov/medgen/78606	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010011	http://purl.obolibrary.org/obo/MONDO_0010011	NANDO:2200818
C0347446	MedGen UID:91131	Spinal cord lipoma	http://www.ncbi.nlm.nih.gov/medgen/91131	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001790	http://purl.obolibrary.org/obo/MONDO_0001790	NANDO:2200815
C0079541	MedGen UID:38214	Holoprosencephaly sequence	http://www.ncbi.nlm.nih.gov/medgen/38214	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016296	http://purl.obolibrary.org/obo/MONDO_0016296	NANDO:2200819
C4016741	MedGen UID:865178	Immunodeficiency 32B	http://www.ncbi.nlm.nih.gov/medgen/865178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009194	http://purl.obolibrary.org/obo/MONDO_0009194	NANDO:2200808
C0019693	MedGen UID:5583	Human immunodeficiency virus infection	http://www.ncbi.nlm.nih.gov/medgen/5583	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005109	http://purl.obolibrary.org/obo/MONDO_0005109	NANDO:2200810
C0559459	MedGen UID:107852	Sacrococcygeal teratoma	http://www.ncbi.nlm.nih.gov/medgen/107852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0042727	http://purl.obolibrary.org/obo/MONDO_0042727	NANDO:2200816
C0867389	MedGen UID:167851	Chronic graft versus host disease	http://www.ncbi.nlm.nih.gov/medgen/167851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020547	http://purl.obolibrary.org/obo/MONDO_0020547	NANDO:2200812
C1540912	MedGen UID:280990	Hypereosinophilic syndrome	http://www.ncbi.nlm.nih.gov/medgen/280990	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015691	http://purl.obolibrary.org/obo/MONDO_0015691	NANDO:2200806
C5680014	MedGen UID:1826142	Eosinophilic gastrointestinal disease	http://www.ncbi.nlm.nih.gov/medgen/1826142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018438	http://purl.obolibrary.org/obo/MONDO_0018438	NANDO:2200807
C1850674	MedGen UID:340597	Congenital multicore myopathy with external ophthalmoplegia	http://www.ncbi.nlm.nih.gov/medgen/340597	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009712	http://purl.obolibrary.org/obo/MONDO_0009712	NANDO:2200872
C1851945	MedGen UID:338823	Early-onset generalized limb-onset dystonia	http://www.ncbi.nlm.nih.gov/medgen/338823	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007492	http://purl.obolibrary.org/obo/MONDO_0007492	NANDO:2200884
C0001193	MedGen UID:7858	Acrocephalosyndactyly type I	http://www.ncbi.nlm.nih.gov/medgen/7858	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007041	http://purl.obolibrary.org/obo/MONDO_0007041	NANDO:2200844
C0004779	MedGen UID:2554	Gorlin syndrome	http://www.ncbi.nlm.nih.gov/medgen/2554	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007187	http://purl.obolibrary.org/obo/MONDO_0007187	NANDO:2200828
C0007959	MedGen UID:2980	Charcot-Marie-Tooth disease	http://www.ncbi.nlm.nih.gov/medgen/2980	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015626	http://purl.obolibrary.org/obo/MONDO_0015626	NANDO:2200855
C0009207	MedGen UID:40363	Cockayne syndrome	http://www.ncbi.nlm.nih.gov/medgen/40363	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016006	http://purl.obolibrary.org/obo/MONDO_0016006	NANDO:2200832
C0010273	MedGen UID:1162	Crouzon syndrome	http://www.ncbi.nlm.nih.gov/medgen/1162	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007405	http://purl.obolibrary.org/obo/MONDO_0007405	NANDO:2200845
C0010964	MedGen UID:4150	Dandy-Walker syndrome	http://www.ncbi.nlm.nih.gov/medgen/4150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009072	http://purl.obolibrary.org/obo/MONDO_0009072	NANDO:2200821
C0175699	MedGen UID:64221	Saethre-Chotzen syndrome	http://www.ncbi.nlm.nih.gov/medgen/64221	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007042	http://purl.obolibrary.org/obo/MONDO_0007042	NANDO:2200848
C0206307	MedGen UID:61565	Spongy degeneration of central nervous system	http://www.ncbi.nlm.nih.gov/medgen/61565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010079	http://purl.obolibrary.org/obo/MONDO_0010079	NANDO:2200834
C0410174	MedGen UID:140820	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	http://www.ncbi.nlm.nih.gov/medgen/140820	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009678	http://purl.obolibrary.org/obo/MONDO_0009678	NANDO:2200860
C5244016	MedGen UID:1826001	Cerebral creatine deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1826001	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000456	http://purl.obolibrary.org/obo/MONDO_0000456	NANDO:2200842
C0026847	MedGen UID:7755	Spinal muscular atrophy	http://www.ncbi.nlm.nih.gov/medgen/7755	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001516	http://purl.obolibrary.org/obo/MONDO_0001516	NANDO:2200853
C0027888	MedGen UID:45066	Hereditary motor and sensory neuropathy	http://www.ncbi.nlm.nih.gov/medgen/45066	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015358	http://purl.obolibrary.org/obo/MONDO_0015358	NANDO:2200855
C0270726	MedGen UID:78724	Alexander disease	http://www.ncbi.nlm.nih.gov/medgen/78724	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008752	http://purl.obolibrary.org/obo/MONDO_0008752	NANDO:2200835
C0544862	MedGen UID:154259	Neurocutaneous melanocytosis	http://www.ncbi.nlm.nih.gov/medgen/154259	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009578	http://purl.obolibrary.org/obo/MONDO_0009578	NANDO:2200827
C0546264	MedGen UID:108177	Congenital myopathy with fiber type disproportion	http://www.ncbi.nlm.nih.gov/medgen/108177	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009711	http://purl.obolibrary.org/obo/MONDO_0009711	NANDO:2200868
C0917804	MedGen UID:214590	Cerebral arteriovenous malformation	http://www.ncbi.nlm.nih.gov/medgen/214590	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007154	http://purl.obolibrary.org/obo/MONDO_0007154	NANDO:2200851
C1263858	MedGen UID:224728	Merosin deficient congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/224728	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011925	http://purl.obolibrary.org/obo/MONDO_0011925	NANDO:2200861
C1858854	MedGen UID:347006	Megalencephalic leukoencephalopathy with subcortical cysts	http://www.ncbi.nlm.nih.gov/medgen/347006	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011391	http://purl.obolibrary.org/obo/MONDO_0011391	NANDO:2200837
C3489724	MedGen UID:483677	Aicardi-Goutieres syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/483677	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012429	http://purl.obolibrary.org/obo/MONDO_0012429	NANDO:2200894
C3539013	MedGen UID:761287	Aicardi-Goutieres syndrome 6	http://www.ncbi.nlm.nih.gov/medgen/761287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014007	http://purl.obolibrary.org/obo/MONDO_0014007	NANDO:2200898
C0338503	MedGen UID:90926	Septo-optic dysplasia sequence	http://www.ncbi.nlm.nih.gov/medgen/90926	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008428	http://purl.obolibrary.org/obo/MONDO_0008428	NANDO:2200820
C1334237	MedGen UID:232659	Intracranial cavernous angioma	http://www.ncbi.nlm.nih.gov/medgen/232659	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002327	http://purl.obolibrary.org/obo/MONDO_0002327	NANDO:2200852
C1835916	MedGen UID:324389	Aicardi-Goutieres syndrome 3	http://www.ncbi.nlm.nih.gov/medgen/324389	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012471	http://purl.obolibrary.org/obo/MONDO_0012471	NANDO:2200895
C1845055	MedGen UID:337145	Alpha thalassemia-X-linked intellectual disability syndrome	http://www.ncbi.nlm.nih.gov/medgen/337145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010519	http://purl.obolibrary.org/obo/MONDO_0010519	NANDO:2200839
C4551860	MedGen UID:1642667	Ullrich congenital muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/1642667	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000355	http://purl.obolibrary.org/obo/MONDO_0000355	NANDO:2200862
C0033300	MedGen UID:46123	Hutchinson-Gilford syndrome	http://www.ncbi.nlm.nih.gov/medgen/46123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008310	http://purl.obolibrary.org/obo/MONDO_0008310	NANDO:2200833
C0035372	MedGen UID:48441	Rett syndrome	http://www.ncbi.nlm.nih.gov/medgen/48441	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010726	http://purl.obolibrary.org/obo/MONDO_0010726	NANDO:2200825
C0036391	MedGen UID:19892	Schwartz-Jampel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19892	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009717	http://purl.obolibrary.org/obo/MONDO_0009717	NANDO:2200876
C0038505	MedGen UID:21361	Sturge-Weber syndrome	http://www.ncbi.nlm.nih.gov/medgen/21361	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008501	http://purl.obolibrary.org/obo/MONDO_0008501	NANDO:2200830
C0040560	MedGen UID:52799	Congenital toxoplasmosis	http://www.ncbi.nlm.nih.gov/medgen/52799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005715	http://purl.obolibrary.org/obo/MONDO_0005715	NANDO:2200892
C0041341	MedGen UID:22518	Tuberous sclerosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/22518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001734	http://purl.obolibrary.org/obo/MONDO_0001734	NANDO:2200826
C0043119	MedGen UID:12147	Werner syndrome	http://www.ncbi.nlm.nih.gov/medgen/12147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010196	http://purl.obolibrary.org/obo/MONDO_0010196	NANDO:2200831
C1865285	MedGen UID:355421	Megalencephaly-capillary malformation-polymicrogyria syndrome	http://www.ncbi.nlm.nih.gov/medgen/355421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011240	http://purl.obolibrary.org/obo/MONDO_0011240	NANDO:2200823
C2749659	MedGen UID:413116	Aicardi-Goutieres syndrome 5	http://www.ncbi.nlm.nih.gov/medgen/413116	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013059	http://purl.obolibrary.org/obo/MONDO_0013059	NANDO:2200897
C2750785	MedGen UID:413043	Congenital muscular dystrophy due to LMNA mutation	http://www.ncbi.nlm.nih.gov/medgen/413043	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013178	http://purl.obolibrary.org/obo/MONDO_0013178	NANDO:2200866
C0013264	MedGen UID:3925	Duchenne muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/3925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010679	http://purl.obolibrary.org/obo/MONDO_0010679	NANDO:2200856
C0016667	MedGen UID:8912	Fragile X syndrome	http://www.ncbi.nlm.nih.gov/medgen/8912	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010383	http://purl.obolibrary.org/obo/MONDO_0010383	NANDO:2200840
C0018523	MedGen UID:6708	Pigmentary pallidal degeneration	http://www.ncbi.nlm.nih.gov/medgen/6708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009319	http://purl.obolibrary.org/obo/MONDO_0009319	NANDO:2200886
C0019562	MedGen UID:42458	Von Hippel-Lindau syndrome	http://www.ncbi.nlm.nih.gov/medgen/42458	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008667	http://purl.obolibrary.org/obo/MONDO_0008667	NANDO:2200829
C0020074	MedGen UID:6915	Hereditary insensitivity to pain with anhidrosis	http://www.ncbi.nlm.nih.gov/medgen/6915	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009746	http://purl.obolibrary.org/obo/MONDO_0009746	NANDO:2200854
C0238288	MedGen UID:65956	Facioscapulohumeral muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/65956	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001347	http://purl.obolibrary.org/obo/MONDO_0001347	NANDO:2200859
C0751783	MedGen UID:155631	Lafora disease	http://www.ncbi.nlm.nih.gov/medgen/155631	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009697	http://purl.obolibrary.org/obo/MONDO_0009697	NANDO:2200881
C0751785	MedGen UID:155923	Unverricht-Lundborg syndrome	http://www.ncbi.nlm.nih.gov/medgen/155923	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009698	http://purl.obolibrary.org/obo/MONDO_0009698	NANDO:2200880
C0751951	MedGen UID:199773	Central core myopathy	http://www.ncbi.nlm.nih.gov/medgen/199773	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007294	http://purl.obolibrary.org/obo/MONDO_0007294	NANDO:2200870
C0752282	MedGen UID:156050	Congenital structural myopathy	http://www.ncbi.nlm.nih.gov/medgen/156050	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002921	http://purl.obolibrary.org/obo/MONDO_0002921	NANDO:2200867
C0795996	MedGen UID:167090	Infantile bilateral striatal necrosis	http://www.ncbi.nlm.nih.gov/medgen/167090	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015518	http://purl.obolibrary.org/obo/MONDO_0015518	NANDO:2200888
C0917713	MedGen UID:182959	Becker muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/182959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010311	http://purl.obolibrary.org/obo/MONDO_0010311	NANDO:2200865
C5679612	MedGen UID:1826007	Joubert syndrome and related disorders	http://www.ncbi.nlm.nih.gov/medgen/1826007	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015369	http://purl.obolibrary.org/obo/MONDO_0015369	NANDO:2200824
CN228925	MedGen UID:833284	Isolated craniosynostosis	http://www.ncbi.nlm.nih.gov/medgen/833284	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015337	http://purl.obolibrary.org/obo/MONDO_0015337	NANDO:2200843
C0175709	MedGen UID:104495	Centronuclear myopathy	http://www.ncbi.nlm.nih.gov/medgen/104495	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018947	http://purl.obolibrary.org/obo/MONDO_0018947	NANDO:2200867
C0206157	MedGen UID:61528	Nemaline myopathy	http://www.ncbi.nlm.nih.gov/medgen/61528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018958	http://purl.obolibrary.org/obo/MONDO_0018958	NANDO:2200869
C0410189	MedGen UID:96078	Emery-Dreifuss muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/96078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016830	http://purl.obolibrary.org/obo/MONDO_0016830	NANDO:2200857
C0023520	MedGen UID:6070	Leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/6070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019046	http://purl.obolibrary.org/obo/MONDO_0019046	NANDO:2200836
C0026654	MedGen UID:7726	Moyamoya disease	http://www.ncbi.nlm.nih.gov/medgen/7726	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016820	http://purl.obolibrary.org/obo/MONDO_0016820	NANDO:2200850
C0027126	MedGen UID:10239	Myotonic dystrophy	http://www.ncbi.nlm.nih.gov/medgen/10239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016107	http://purl.obolibrary.org/obo/MONDO_0016107	NANDO:2200864
C0270962	MedGen UID:75731	Multiminicore myopathy	http://www.ncbi.nlm.nih.gov/medgen/75731	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018948	http://purl.obolibrary.org/obo/MONDO_0018948	NANDO:2200871
C0270970	MedGen UID:543081	Reducing body myopathy	http://www.ncbi.nlm.nih.gov/medgen/543081	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019948	http://purl.obolibrary.org/obo/MONDO_0019948	NANDO:2200875
C0349499	MedGen UID:578789	Fetal cytomegalovirus syndrome	http://www.ncbi.nlm.nih.gov/medgen/578789	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017409	http://purl.obolibrary.org/obo/MONDO_0017409	NANDO:2200891
C0393591	MedGen UID:97953	Aicardi Goutieres syndrome	http://www.ncbi.nlm.nih.gov/medgen/97953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018866	http://purl.obolibrary.org/obo/MONDO_0018866	NANDO:2200893
C1275078	MedGen UID:226897	Carpenter syndrome	http://www.ncbi.nlm.nih.gov/medgen/226897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019012	http://purl.obolibrary.org/obo/MONDO_0019012	NANDO:2200847
C0338488	MedGen UID:90925	Alternating hemiplegia of childhood	http://www.ncbi.nlm.nih.gov/medgen/90925	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016241	http://purl.obolibrary.org/obo/MONDO_0016241	NANDO:2200883
C0686353	MedGen UID:151940	Limb-girdle muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/151940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016971	http://purl.obolibrary.org/obo/MONDO_0016971	NANDO:2200858
C0035921	MedGen UID:19841	Congenital rubella syndrome	http://www.ncbi.nlm.nih.gov/medgen/19841	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017361	http://purl.obolibrary.org/obo/MONDO_0017361	NANDO:2200890
C0037769	MedGen UID:11519	West syndrome	http://www.ncbi.nlm.nih.gov/medgen/11519	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018097	http://purl.obolibrary.org/obo/MONDO_0018097	NANDO:2200878
C0276225	MedGen UID:82910	Congenital herpes simplex virus infection	http://www.ncbi.nlm.nih.gov/medgen/82910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017381	http://purl.obolibrary.org/obo/MONDO_0017381	NANDO:2200889
C0020256	MedGen UID:9336	Congenital hydrocephalus	http://www.ncbi.nlm.nih.gov/medgen/9336	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016349	http://purl.obolibrary.org/obo/MONDO_0016349	NANDO:2200822
C0238111	MedGen UID:116044	Lennox-Gastaut syndrome	http://www.ncbi.nlm.nih.gov/medgen/116044	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016532	http://purl.obolibrary.org/obo/MONDO_0016532	NANDO:2200879
C0751122	MedGen UID:148243	Severe myoclonic epilepsy in infancy	http://www.ncbi.nlm.nih.gov/medgen/148243	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100135	http://purl.obolibrary.org/obo/MONDO_0100135	NANDO:2200877
CN221588	MedGen UID:808180	Dopa-responsive dystonia	http://www.ncbi.nlm.nih.gov/medgen/808180	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016812	http://purl.obolibrary.org/obo/MONDO_0016812	NANDO:2200885
C0004903	MedGen UID:2562	Beckwith-Wiedemann syndrome	http://www.ncbi.nlm.nih.gov/medgen/2562	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007534	http://purl.obolibrary.org/obo/MONDO_0007534	NANDO:2200959
C0005411	MedGen UID:14117	Biliary atresia	http://www.ncbi.nlm.nih.gov/medgen/14117	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008867	http://purl.obolibrary.org/obo/MONDO_0008867	NANDO:2200930
C0008313	MedGen UID:3036	Sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/3036	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018646	http://purl.obolibrary.org/obo/MONDO_0018646	NANDO:2200929
C0009324	MedGen UID:3532	Ulcerative colitis	http://www.ncbi.nlm.nih.gov/medgen/3532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005101	http://purl.obolibrary.org/obo/MONDO_0005101	NANDO:2200920
C0009714	MedGen UID:40449	Congenital hepatic fibrosis	http://www.ncbi.nlm.nih.gov/medgen/40449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018840	http://purl.obolibrary.org/obo/MONDO_0018840	NANDO:2200936
C0010314	MedGen UID:41345	5p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/41345	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007404	http://purl.obolibrary.org/obo/MONDO_0007404	NANDO:2200961
C0010346	MedGen UID:3664	Crohn disease	http://www.ncbi.nlm.nih.gov/medgen/3664	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005011	http://purl.obolibrary.org/obo/MONDO_0005011	NANDO:2200921
C0011989	MedGen UID:4268	Diaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/4268	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007542	http://purl.obolibrary.org/obo/MONDO_0007542	NANDO:2200970
C0162510	MedGen UID:57924	Caroli disease	http://www.ncbi.nlm.nih.gov/medgen/57924	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010913	http://purl.obolibrary.org/obo/MONDO_0010913	NANDO:2200934
C0162635	MedGen UID:58144	Angelman syndrome	http://www.ncbi.nlm.nih.gov/medgen/58144	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007113	http://purl.obolibrary.org/obo/MONDO_0007113	NANDO:2200960
C0175695	MedGen UID:61232	Sotos syndrome	http://www.ncbi.nlm.nih.gov/medgen/61232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019349	http://purl.obolibrary.org/obo/MONDO_0019349	NANDO:2200953
C0220658	MedGen UID:67390	Pfeiffer syndrome	http://www.ncbi.nlm.nih.gov/medgen/67390	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007043	http://purl.obolibrary.org/obo/MONDO_0007043	NANDO:2200976
C2609129	MedGen UID:750633	Autoimmune pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/750633	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015175	http://purl.obolibrary.org/obo/MONDO_0015175	NANDO:2200943
C5234850	MedGen UID:1714404	Antley-Bixler syndrome	http://www.ncbi.nlm.nih.gov/medgen/1714404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008803	http://purl.obolibrary.org/obo/MONDO_0008803	NANDO:2200975
C0023890	MedGen UID:7368	Cirrhosis of liver	http://www.ncbi.nlm.nih.gov/medgen/7368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005155	http://purl.obolibrary.org/obo/MONDO_0005155	NANDO:2200937
C0024215	MedGen UID:9828	Intestinal lymphangiectasia	http://www.ncbi.nlm.nih.gov/medgen/9828	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018178	http://purl.obolibrary.org/obo/MONDO_0018178	NANDO:2200914
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	NANDO:2200968
C0026769	MedGen UID:10123	Multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/10123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005301	http://purl.obolibrary.org/obo/MONDO_0005301	NANDO:2200904
C0026896	MedGen UID:7764	Myasthenia gravis	http://www.ncbi.nlm.nih.gov/medgen/7764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009688	http://purl.obolibrary.org/obo/MONDO_0009688	NANDO:2200906
C0031269	MedGen UID:18404	Peutz-Jeghers syndrome	http://www.ncbi.nlm.nih.gov/medgen/18404	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008280	http://purl.obolibrary.org/obo/MONDO_0008280	NANDO:2200917
C0268059	MedGen UID:82768	Neonatal hemochromatosis	http://www.ncbi.nlm.nih.gov/medgen/82768	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009275	http://purl.obolibrary.org/obo/MONDO_0009275	NANDO:2200927
C0268186	MedGen UID:78647	Congenital glucose-galactose malabsorption	http://www.ncbi.nlm.nih.gov/medgen/78647	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011731	http://purl.obolibrary.org/obo/MONDO_0011731	NANDO:2200909
C0268312	MedGen UID:75668	Progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/75668	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015762	http://purl.obolibrary.org/obo/MONDO_0015762	NANDO:2200933
C0268416	MedGen UID:82802	Enterokinase deficiency	http://www.ncbi.nlm.nih.gov/medgen/82802	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009173	http://purl.obolibrary.org/obo/MONDO_0009173	NANDO:2200910
C0270972	MedGen UID:78752	De Lange syndrome	http://www.ncbi.nlm.nih.gov/medgen/78752	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016033	http://purl.obolibrary.org/obo/MONDO_0016033	NANDO:2200958
C0345893	MedGen UID:87518	Juvenile polyposis syndrome	http://www.ncbi.nlm.nih.gov/medgen/87518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017380	http://purl.obolibrary.org/obo/MONDO_0017380	NANDO:2200916
C0393819	MedGen UID:98292	Chronic inflammatory demyelinating polyradiculoneuropathy	http://www.ncbi.nlm.nih.gov/medgen/98292	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006702	http://purl.obolibrary.org/obo/MONDO_0006702	NANDO:2200905
C1275081	MedGen UID:266149	Cardio-facio-cutaneous syndrome	http://www.ncbi.nlm.nih.gov/medgen/266149	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015280	http://purl.obolibrary.org/obo/MONDO_0015280	NANDO:2200967
C1283620	MedGen UID:220924	Sucrase-isomaltase deficiency	http://www.ncbi.nlm.nih.gov/medgen/220924	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009114	http://purl.obolibrary.org/obo/MONDO_0009114	NANDO:2200908
C3280527	MedGen UID:482157	Pancreatic triacylglycerol lipase deficiency	http://www.ncbi.nlm.nih.gov/medgen/482157	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013700	http://purl.obolibrary.org/obo/MONDO_0013700	NANDO:2200912
C4083008	MedGen UID:901636	Guillain-Barre syndrome, familial	http://www.ncbi.nlm.nih.gov/medgen/901636	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007691	http://purl.obolibrary.org/obo/MONDO_0007691	NANDO:2200905
C4275068	MedGen UID:898614	Chronic diarrhea due to glucoamylase deficiency	http://www.ncbi.nlm.nih.gov/medgen/898614	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015169	http://purl.obolibrary.org/obo/MONDO_0015169	NANDO:2200911
C4707658	MedGen UID:1645136	Acute encephalopathy with biphasic seizures and late reduced diffusion	http://www.ncbi.nlm.nih.gov/medgen/1645136	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018198	http://purl.obolibrary.org/obo/MONDO_0018198	NANDO:2200901
C4721555	MedGen UID:1666753	Autoimmune hepatitis	http://www.ncbi.nlm.nih.gov/medgen/1666753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016264	http://purl.obolibrary.org/obo/MONDO_0016264	NANDO:2200928
C0085280	MedGen UID:39014	Arteriohepatic dysplasia	http://www.ncbi.nlm.nih.gov/medgen/39014	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007318	http://purl.obolibrary.org/obo/MONDO_0007318	NANDO:2200931
C0152095	MedGen UID:56261	Complete trisomy 13 syndrome	http://www.ncbi.nlm.nih.gov/medgen/56261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018068	http://purl.obolibrary.org/obo/MONDO_0018068	NANDO:2200964
C0152164	MedGen UID:57509	Cyclical vomiting syndrome	http://www.ncbi.nlm.nih.gov/medgen/57509	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010778	http://purl.obolibrary.org/obo/MONDO_0010778	NANDO:2200919
C0341305	MedGen UID:83322	Autoimmune enteropathy	http://www.ncbi.nlm.nih.gov/medgen/83322	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019787	http://purl.obolibrary.org/obo/MONDO_0019787	NANDO:2200923
C0341306	MedGen UID:137954	Congenital microvillous atrophy	http://www.ncbi.nlm.nih.gov/medgen/137954	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009635	http://purl.obolibrary.org/obo/MONDO_0009635	NANDO:2200913
C0342288	MedGen UID:83339	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	http://www.ncbi.nlm.nih.gov/medgen/83339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010580	http://purl.obolibrary.org/obo/MONDO_0010580	NANDO:2200924
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:2200951
C0345217	MedGen UID:83377	Cloacal exstrophy	http://www.ncbi.nlm.nih.gov/medgen/83377	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009774	http://purl.obolibrary.org/obo/MONDO_0009774	NANDO:2200950
C0345240	MedGen UID:83378	Aganglionosis, total intestinal	http://www.ncbi.nlm.nih.gov/medgen/83378	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008738	http://purl.obolibrary.org/obo/MONDO_0008738	NANDO:2200948
C0587248	MedGen UID:108454	Costello syndrome	http://www.ncbi.nlm.nih.gov/medgen/108454	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009026	http://purl.obolibrary.org/obo/MONDO_0009026	NANDO:2200971
C5551003	MedGen UID:1789261	Crigler-Najjar syndrome	http://www.ncbi.nlm.nih.gov/medgen/1789261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009044	http://purl.obolibrary.org/obo/MONDO_0009044	NANDO:2200941
C5568838	MedGen UID:1800261	Chronic enteropathy associated with SLCO2A1 gene	http://www.ncbi.nlm.nih.gov/medgen/1800261	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018766	http://purl.obolibrary.org/obo/MONDO_0018766	NANDO:2200925
C5671289	MedGen UID:1804547	Autoimmune encephalitis	http://www.ncbi.nlm.nih.gov/medgen/1804547	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020640	http://purl.obolibrary.org/obo/MONDO_0020640	NANDO:2200902
C0032580	MedGen UID:46010	Familial multiple polyposis syndrome	http://www.ncbi.nlm.nih.gov/medgen/46010	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021055	http://purl.obolibrary.org/obo/MONDO_0021055	NANDO:2200915
C0035934	MedGen UID:48517	Rubinstein-Taybi syndrome	http://www.ncbi.nlm.nih.gov/medgen/48517	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019188	http://purl.obolibrary.org/obo/MONDO_0019188	NANDO:2200955
C0036992	MedGen UID:19966	Short bowel syndrome	http://www.ncbi.nlm.nih.gov/medgen/19966	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015183	http://purl.obolibrary.org/obo/MONDO_0015183	NANDO:2200944
C0038522	MedGen UID:52527	Subacute sclerosing panencephalitis	http://www.ncbi.nlm.nih.gov/medgen/52527	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009835	http://purl.obolibrary.org/obo/MONDO_0009835	NANDO:2200899
C1956097	MedGen UID:408255	4p partial monosomy syndrome	http://www.ncbi.nlm.nih.gov/medgen/408255	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008684	http://purl.obolibrary.org/obo/MONDO_0008684	NANDO:2200962
C2697932	MedGen UID:395827	Loeys-Dietz syndrome	http://www.ncbi.nlm.nih.gov/medgen/395827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	NANDO:2200969
C2930868	MedGen UID:418934	Rasmussen subacute encephalitis	http://www.ncbi.nlm.nih.gov/medgen/418934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016019	http://purl.obolibrary.org/obo/MONDO_0016019	NANDO:2200900
C4317091	MedGen UID:1384417	Trisomy 18	http://www.ncbi.nlm.nih.gov/medgen/1384417	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018071	http://purl.obolibrary.org/obo/MONDO_0018071	NANDO:2200963
C0013080	MedGen UID:4385	Down syndrome	http://www.ncbi.nlm.nih.gov/medgen/4385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008608	http://purl.obolibrary.org/obo/MONDO_0008608	NANDO:2200965
C0018522	MedGen UID:5414	Hallermann-Streiff syndrome	http://www.ncbi.nlm.nih.gov/medgen/5414	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009318	http://purl.obolibrary.org/obo/MONDO_0009318	NANDO:2200973
C0018553	MedGen UID:5420	Cowden syndrome	http://www.ncbi.nlm.nih.gov/medgen/5420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016063	http://purl.obolibrary.org/obo/MONDO_0016063	NANDO:2200918
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2200948
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2200945
C0020541	MedGen UID:9375	Portal hypertension	http://www.ncbi.nlm.nih.gov/medgen/9375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005080	http://purl.obolibrary.org/obo/MONDO_0005080	NANDO:2200938
C0021171	MedGen UID:7049	Incontinentia pigmenti syndrome	http://www.ncbi.nlm.nih.gov/medgen/7049	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010631	http://purl.obolibrary.org/obo/MONDO_0010631	NANDO:2200974
C0021345	MedGen UID:7069	Infectious mononucleosis	http://www.ncbi.nlm.nih.gov/medgen/7069	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005810	http://purl.obolibrary.org/obo/MONDO_0005810	NANDO:2200976
C0238062	MedGen UID:536759	Chronic intestinal pseudoobstruction	http://www.ncbi.nlm.nih.gov/medgen/536759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017574	http://purl.obolibrary.org/obo/MONDO_0017574	NANDO:2200946
C0238339	MedGen UID:116056	Hereditary pancreatitis	http://www.ncbi.nlm.nih.gov/medgen/116056	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008185	http://purl.obolibrary.org/obo/MONDO_0008185	NANDO:2200942
C0265210	MedGen UID:120511	Weaver syndrome	http://www.ncbi.nlm.nih.gov/medgen/120511	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010193	http://purl.obolibrary.org/obo/MONDO_0010193	NANDO:2200957
C0265252	MedGen UID:75556	Coffin-Lowry syndrome	http://www.ncbi.nlm.nih.gov/medgen/75556	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010561	http://purl.obolibrary.org/obo/MONDO_0010561	NANDO:2200952
C0265338	MedGen UID:75565	Coffin-Siris syndrome	http://www.ncbi.nlm.nih.gov/medgen/75565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015452	http://purl.obolibrary.org/obo/MONDO_0015452	NANDO:2200977
C0265354	MedGen UID:75567	CHARGE syndrome	http://www.ncbi.nlm.nih.gov/medgen/75567	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008965	http://purl.obolibrary.org/obo/MONDO_0008965	NANDO:2200972
C0566602	MedGen UID:107565	Primary sclerosing cholangitis	http://www.ncbi.nlm.nih.gov/medgen/107565	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013433	http://purl.obolibrary.org/obo/MONDO_0013433	NANDO:2200929
C0795864	MedGen UID:162881	Smith-Magenis syndrome	http://www.ncbi.nlm.nih.gov/medgen/162881	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008434	http://purl.obolibrary.org/obo/MONDO_0008434	NANDO:2200954
C0796004	MedGen UID:162897	Kabuki syndrome	http://www.ncbi.nlm.nih.gov/medgen/162897	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016512	http://purl.obolibrary.org/obo/MONDO_0016512	NANDO:2200956
C4049262	MedGen UID:1381987	Febrile infection-related epilepsy syndrome	http://www.ncbi.nlm.nih.gov/medgen/1381987	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015584	http://purl.obolibrary.org/obo/MONDO_0015584	NANDO:2200903
C5700203	MedGen UID:1814547	Caroli syndrome	http://www.ncbi.nlm.nih.gov/medgen/1814547	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018808	http://purl.obolibrary.org/obo/MONDO_0018808	NANDO:2200934
C1846058	MedGen UID:337496	Syndromic X-linked intellectual disability Lubs type	http://www.ncbi.nlm.nih.gov/medgen/337496	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010283	http://purl.obolibrary.org/obo/MONDO_0010283	NANDO:2200984
C0007194	MedGen UID:2881	Hypertrophic cardiomyopathy	http://www.ncbi.nlm.nih.gov/medgen/2881	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005045	http://purl.obolibrary.org/obo/MONDO_0005045	NANDO:2201042
C0162678	MedGen UID:58149	Neurofibromatosis	http://www.ncbi.nlm.nih.gov/medgen/58149	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021061	http://purl.obolibrary.org/obo/MONDO_0021061	NANDO:2201003
C0175694	MedGen UID:61231	Smith-Lemli-Opitz syndrome	http://www.ncbi.nlm.nih.gov/medgen/61231	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010035	http://purl.obolibrary.org/obo/MONDO_0010035	NANDO:2200979
C0221060	MedGen UID:66357	Oromandibular-limb hypogenesis spectrum	http://www.ncbi.nlm.nih.gov/medgen/66357	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008006	http://purl.obolibrary.org/obo/MONDO_0008006	NANDO:2200980
C0027122	MedGen UID:6503	Myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/6503	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0003964	http://purl.obolibrary.org/obo/MONDO_0003964	NANDO:2201020
C1856113	MedGen UID:341067	Mowat-Wilson syndrome	http://www.ncbi.nlm.nih.gov/medgen/341067	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009341	http://purl.obolibrary.org/obo/MONDO_0009341	NANDO:2200981
C1863557	MedGen UID:350209	Blepharophimosis - intellectual disability syndrome, SBBYS type	http://www.ncbi.nlm.nih.gov/medgen/350209	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011365	http://purl.obolibrary.org/obo/MONDO_0011365	NANDO:2200982
C4225222	MedGen UID:906646	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	http://www.ncbi.nlm.nih.gov/medgen/906646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014757	http://purl.obolibrary.org/obo/MONDO_0014757	NANDO:2200985
C4225671	MedGen UID:902479	VATER association	http://www.ncbi.nlm.nih.gov/medgen/902479	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008642	http://purl.obolibrary.org/obo/MONDO_0008642	NANDO:2200983
C4707798	MedGen UID:1647610	Multiple epiphyseal dysplasia due to collagen 9 anomaly	http://www.ncbi.nlm.nih.gov/medgen/1647610	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015627	http://purl.obolibrary.org/obo/MONDO_0015627	NANDO:2201016
C0078918	MedGen UID:36250	Oculocutaneous albinism	http://www.ncbi.nlm.nih.gov/medgen/36250	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018910	http://purl.obolibrary.org/obo/MONDO_0018910	NANDO:2200986
C4317043	MedGen UID:1387611	Simpson-Golabi-Behmel syndrome	http://www.ncbi.nlm.nih.gov/medgen/1387611	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010731	http://purl.obolibrary.org/obo/MONDO_0010731	NANDO:2200978
C4511307	MedGen UID:1393111	Keratinopathic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1393111	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017266	http://purl.obolibrary.org/obo/MONDO_0017266	NANDO:2200987
C5437635	MedGen UID:1725198	Autosomal recessive epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1725198	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0044742	http://purl.obolibrary.org/obo/MONDO_0044742	NANDO:2200989
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2201014
C0265282	MedGen UID:82700	Fibrochondrogenesis	http://www.ncbi.nlm.nih.gov/medgen/82700	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016068	http://purl.obolibrary.org/obo/MONDO_0016068	NANDO:2201016
CN293953	MedGen UID:978511	Neutral lipid storage disease	http://www.ncbi.nlm.nih.gov/medgen/978511	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015611	http://purl.obolibrary.org/obo/MONDO_0015611	NANDO:2200997
CN377632	MedGen UID:1052865	Autosomal dominant epidermolytic ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/1052865	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020702	http://purl.obolibrary.org/obo/MONDO_0020702	NANDO:2200988
C0001080	MedGen UID:1289	Achondroplasia	http://www.ncbi.nlm.nih.gov/medgen/1289	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007037	http://purl.obolibrary.org/obo/MONDO_0007037	NANDO:2201009
C0003872	MedGen UID:2077	Psoriatic arthritis	http://www.ncbi.nlm.nih.gov/medgen/2077	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011849	http://purl.obolibrary.org/obo/MONDO_0011849	NANDO:2201059
C0008445	MedGen UID:3052	Chondrodysplasia punctata	http://www.ncbi.nlm.nih.gov/medgen/3052	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019701	http://purl.obolibrary.org/obo/MONDO_0019701	NANDO:2201017
C0175778	MedGen UID:104500	Larsen syndrome	http://www.ncbi.nlm.nih.gov/medgen/104500	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007875	http://purl.obolibrary.org/obo/MONDO_0007875	NANDO:2201019
C0220668	MedGen UID:67391	Congenital contractural arachnodactyly	http://www.ncbi.nlm.nih.gov/medgen/67391	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007363	http://purl.obolibrary.org/obo/MONDO_0007363	NANDO:2201026
C0221025	MedGen UID:65122	Kasabach-Merritt syndrome	http://www.ncbi.nlm.nih.gov/medgen/65122	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007708	http://purl.obolibrary.org/obo/MONDO_0007708	NANDO:2201035
C0409818	MedGen UID:98370	Chronic infantile neurological, cutaneous and articular syndrome	http://www.ncbi.nlm.nih.gov/medgen/98370	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011776	http://purl.obolibrary.org/obo/MONDO_0011776	NANDO:2201066
C0410529	MedGen UID:98376	Hypochondroplasia	http://www.ncbi.nlm.nih.gov/medgen/98376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007793	http://purl.obolibrary.org/obo/MONDO_0007793	NANDO:2201010
C0410538	MedGen UID:98378	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	http://www.ncbi.nlm.nih.gov/medgen/98378	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008322	http://purl.obolibrary.org/obo/MONDO_0008322	NANDO:2201018
C2931825	MedGen UID:444150	Negative rheumatoid factor polyarthritis	http://www.ncbi.nlm.nih.gov/medgen/444150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043152	http://purl.obolibrary.org/obo/MONDO_0043152	NANDO:2201057
C5848103	MedGen UID:1853123	Hypohidrotic ectodermal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1853123	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016535	http://purl.obolibrary.org/obo/MONDO_0016535	NANDO:2201005
C0022739	MedGen UID:9646	Angioosteohypertrophic syndrome	http://www.ncbi.nlm.nih.gov/medgen/9646	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007864	http://purl.obolibrary.org/obo/MONDO_0007864	NANDO:2201030
C0024221	MedGen UID:6153	Lymphangioma	http://www.ncbi.nlm.nih.gov/medgen/6153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002013	http://purl.obolibrary.org/obo/MONDO_0002013	NANDO:2201032
C0025268	MedGen UID:9958	Multiple endocrine neoplasia type 2A	http://www.ncbi.nlm.nih.gov/medgen/9958	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008234	http://purl.obolibrary.org/obo/MONDO_0008234	NANDO:2201052
C0025269	MedGen UID:9959	Multiple endocrine neoplasia type 2B	http://www.ncbi.nlm.nih.gov/medgen/9959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008082	http://purl.obolibrary.org/obo/MONDO_0008082	NANDO:2201053
C0027831	MedGen UID:18013	Neurofibromatosis, type 1	http://www.ncbi.nlm.nih.gov/medgen/18013	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018975	http://purl.obolibrary.org/obo/MONDO_0018975	NANDO:2201003
C0029411	MedGen UID:18210	Pachydermoperiostosis syndrome	http://www.ncbi.nlm.nih.gov/medgen/18210	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016620	http://purl.obolibrary.org/obo/MONDO_0016620	NANDO:2201004
C0029434	MedGen UID:45246	Osteogenesis imperfecta	http://www.ncbi.nlm.nih.gov/medgen/45246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019019	http://purl.obolibrary.org/obo/MONDO_0019019	NANDO:2201011
C0029454	MedGen UID:18223	Osteopetrosis	http://www.ncbi.nlm.nih.gov/medgen/18223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017198	http://purl.obolibrary.org/obo/MONDO_0017198	NANDO:2201013
C0029455	MedGen UID:45251	Osteopoikilosis	http://www.ncbi.nlm.nih.gov/medgen/45251	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001414	http://purl.obolibrary.org/obo/MONDO_0001414	NANDO:2201024
C0029464	MedGen UID:10502	Increased bone mineral density	http://www.ncbi.nlm.nih.gov/medgen/10502	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002933	http://purl.obolibrary.org/obo/MONDO_0002933	NANDO:2201022
C0268238	MedGen UID:82780	Triglyceride storage disease with ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/82780	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010155	http://purl.obolibrary.org/obo/MONDO_0010155	NANDO:2200997
C0346072	MedGen UID:83401	Blue rubber bleb nevus	http://www.ncbi.nlm.nih.gov/medgen/83401	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007203	http://purl.obolibrary.org/obo/MONDO_0007203	NANDO:2201027
C0432306	MedGen UID:98153	Ichthyosis bullosa of Siemens	http://www.ncbi.nlm.nih.gov/medgen/98153	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007813	http://purl.obolibrary.org/obo/MONDO_0007813	NANDO:2200990
C1274215	MedGen UID:697564	Autosomal recessive congenital ichthyosis	http://www.ncbi.nlm.nih.gov/medgen/697564	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017265	http://purl.obolibrary.org/obo/MONDO_0017265	NANDO:2200991
C1858558	MedGen UID:346934	Systemic-onset juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/346934	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019434	http://purl.obolibrary.org/obo/MONDO_0019434	NANDO:2201055
C3495919	MedGen UID:854059	Enthesitis-related juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/854059	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019437	http://purl.obolibrary.org/obo/MONDO_0019437	NANDO:2201060
C3665333	MedGen UID:777082	Keratitis ichthyosis and deafness syndrome	http://www.ncbi.nlm.nih.gov/medgen/777082	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018781	http://purl.obolibrary.org/obo/MONDO_0018781	NANDO:2200996
C0152081	MedGen UID:508876	Pustular psoriasis	http://www.ncbi.nlm.nih.gov/medgen/508876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022205	http://purl.obolibrary.org/obo/MONDO_0022205	NANDO:2201001
C0340231	MedGen UID:137939	Tracheobronchomalacia	http://www.ncbi.nlm.nih.gov/medgen/137939	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008888	http://purl.obolibrary.org/obo/MONDO_0008888	NANDO:2201040
C0340543	MedGen UID:90953	Heritable pulmonary arterial hypertension	http://www.ncbi.nlm.nih.gov/medgen/90953	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017148	http://purl.obolibrary.org/obo/MONDO_0017148	NANDO:2201047
C0342394	MedGen UID:574999	Neurohypophyseal diabetes insipidus	http://www.ncbi.nlm.nih.gov/medgen/574999	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007450	http://purl.obolibrary.org/obo/MONDO_0007450	NANDO:2201050
C0598226	MedGen UID:108615	Autosomal recessive congenital ichthyosis 4B	http://www.ncbi.nlm.nih.gov/medgen/108615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009443	http://purl.obolibrary.org/obo/MONDO_0009443	NANDO:2200992
C3839921	MedGen UID:825766	Diffuse lymphatic malformation	http://www.ncbi.nlm.nih.gov/medgen/825766	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015408	http://purl.obolibrary.org/obo/MONDO_0015408	NANDO:2201033
C3890733	MedGen UID:855737	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/855737	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019435	http://purl.obolibrary.org/obo/MONDO_0019435	NANDO:2201058
C5574950	MedGen UID:1802991	Netherton syndrome	http://www.ncbi.nlm.nih.gov/medgen/1802991	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009735	http://purl.obolibrary.org/obo/MONDO_0009735	NANDO:2200993
C5576443	MedGen UID:1804666	Primary lymphedema	http://www.ncbi.nlm.nih.gov/medgen/1804666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019175	http://purl.obolibrary.org/obo/MONDO_0019175	NANDO:2201031
C0037231	MedGen UID:11443	Sjögren-Larsson syndrome	http://www.ncbi.nlm.nih.gov/medgen/11443	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010031	http://purl.obolibrary.org/obo/MONDO_0010031	NANDO:2200994
C0038325	MedGen UID:20955	Stevens-Johnson syndrome	http://www.ncbi.nlm.nih.gov/medgen/20955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018229	http://purl.obolibrary.org/obo/MONDO_0018229	NANDO:2201006
C0039445	MedGen UID:52657	Hereditary hemorrhagic telangiectasia	http://www.ncbi.nlm.nih.gov/medgen/52657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019180	http://purl.obolibrary.org/obo/MONDO_0019180	NANDO:2201034
C0043346	MedGen UID:21943	Xeroderma pigmentosum	http://www.ncbi.nlm.nih.gov/medgen/21943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019600	http://purl.obolibrary.org/obo/MONDO_0019600	NANDO:2201002
C2931073	MedGen UID:419326	Type 2 collagenopathy	http://www.ncbi.nlm.nih.gov/medgen/419326	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0022800	http://purl.obolibrary.org/obo/MONDO_0022800	NANDO:2201016
C2931171	MedGen UID:443993	Oligoarticular juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/443993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019433	http://purl.obolibrary.org/obo/MONDO_0019433	NANDO:2201056
C5399971	MedGen UID:1746744	IFAP syndrome 1, with or without BRESHECK syndrome	http://www.ncbi.nlm.nih.gov/medgen/1746744	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100213	http://purl.obolibrary.org/obo/MONDO_0100213	NANDO:2200999
C0014084	MedGen UID:41775	Enchondromatosis	http://www.ncbi.nlm.nih.gov/medgen/41775	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008145	http://purl.obolibrary.org/obo/MONDO_0008145	NANDO:2201015
C0014518	MedGen UID:4501	Toxic epidermal necrolysis	http://www.ncbi.nlm.nih.gov/medgen/4501	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019810	http://purl.obolibrary.org/obo/MONDO_0019810	NANDO:2201007
C0014527	MedGen UID:41832	Epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/41832	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006541	http://purl.obolibrary.org/obo/MONDO_0006541	NANDO:2201000
C0015306	MedGen UID:4612	Multiple congenital exostosis	http://www.ncbi.nlm.nih.gov/medgen/4612	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005508	http://purl.obolibrary.org/obo/MONDO_0005508	NANDO:2201015
C0016037	MedGen UID:4698	Progressive myositis ossificans	http://www.ncbi.nlm.nih.gov/medgen/4698	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007606	http://purl.obolibrary.org/obo/MONDO_0007606	NANDO:2201020
C0020630	MedGen UID:43799	Hypophosphatasia	http://www.ncbi.nlm.nih.gov/medgen/43799	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018570	http://purl.obolibrary.org/obo/MONDO_0018570	NANDO:2201012
C0238402	MedGen UID:116061	Pyknodysostosis	http://www.ncbi.nlm.nih.gov/medgen/116061	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009940	http://purl.obolibrary.org/obo/MONDO_0009940	NANDO:2201023
C0238462	MedGen UID:66772	Medullary thyroid carcinoma	http://www.ncbi.nlm.nih.gov/medgen/66772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015277	http://purl.obolibrary.org/obo/MONDO_0015277	NANDO:2201054
C0265267	MedGen UID:82697	Child syndrome	http://www.ncbi.nlm.nih.gov/medgen/82697	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010621	http://purl.obolibrary.org/obo/MONDO_0010621	NANDO:2200998
C0854914	MedGen UID:163163	bilateral retinoblastoma	http://www.ncbi.nlm.nih.gov/medgen/163163	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003075	http://purl.obolibrary.org/obo/MONDO_0003075	NANDO:2201038
C5680196	MedGen UID:1842681	Unspecified juvenile idiopathic arthritis	http://www.ncbi.nlm.nih.gov/medgen/1842681	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019607	http://purl.obolibrary.org/obo/MONDO_0019607	NANDO:2201061
C5680597	MedGen UID:1842414	Thoracic malformation	http://www.ncbi.nlm.nih.gov/medgen/1842414	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015929	http://purl.obolibrary.org/obo/MONDO_0015929	NANDO:2201008
C5680977	MedGen UID:1842686	TRPV4-related bone disorder	http://www.ncbi.nlm.nih.gov/medgen/1842686	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018240	http://purl.obolibrary.org/obo/MONDO_0018240	NANDO:2201021
C1833382	MedGen UID:318863	Maturity-onset diabetes of the young type 4	http://www.ncbi.nlm.nih.gov/medgen/318863	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011667	http://purl.obolibrary.org/obo/MONDO_0011667	NANDO:2201072
C1833518	MedGen UID:318896	Carnitine palmitoyl transferase II deficiency, neonatal form	http://www.ncbi.nlm.nih.gov/medgen/318896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012136	http://purl.obolibrary.org/obo/MONDO_0012136	NANDO:2201132
C1848552	MedGen UID:341253	Methylmalonic aciduria and homocystinuria type cblD	http://www.ncbi.nlm.nih.gov/medgen/341253	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010185	http://purl.obolibrary.org/obo/MONDO_0010185	NANDO:2201108
C1848561	MedGen UID:341256	Cobalamin C disease	http://www.ncbi.nlm.nih.gov/medgen/341256	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010184	http://purl.obolibrary.org/obo/MONDO_0010184	NANDO:2201107
C1848578	MedGen UID:336373	Methylmalonic aciduria and homocystinuria type cblF	http://www.ncbi.nlm.nih.gov/medgen/336373	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010183	http://purl.obolibrary.org/obo/MONDO_0010183	NANDO:2201110
C1849722	MedGen UID:342338	Adult polyglucosan body disease	http://www.ncbi.nlm.nih.gov/medgen/342338	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009897	http://purl.obolibrary.org/obo/MONDO_0009897	NANDO:2201163
C1852093	MedGen UID:377589	Maturity-onset diabetes of the young type 1	http://www.ncbi.nlm.nih.gov/medgen/377589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007452	http://purl.obolibrary.org/obo/MONDO_0007452	NANDO:2201069
C1855102	MedGen UID:344420	Methylmalonic aciduria, cblB type	http://www.ncbi.nlm.nih.gov/medgen/344420	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009614	http://purl.obolibrary.org/obo/MONDO_0009614	NANDO:2201106
C1855109	MedGen UID:344422	Methylmalonic aciduria, cblA type	http://www.ncbi.nlm.nih.gov/medgen/344422	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009613	http://purl.obolibrary.org/obo/MONDO_0009613	NANDO:2201105
C1855128	MedGen UID:344426	Methylcobalamin deficiency type cblG	http://www.ncbi.nlm.nih.gov/medgen/344426	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009609	http://purl.obolibrary.org/obo/MONDO_0009609	NANDO:2201111
C0023786	MedGen UID:44171	Mucopolysaccharidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44171	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0001586	http://purl.obolibrary.org/obo/MONDO_0001586	NANDO:2201168
C0026708	MedGen UID:6453	Mucopolysaccharidosis, MPS-I-S	http://www.ncbi.nlm.nih.gov/medgen/6453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011760	http://purl.obolibrary.org/obo/MONDO_0011760	NANDO:2201169
C0031485	MedGen UID:19244	Phenylketonuria	http://www.ncbi.nlm.nih.gov/medgen/19244	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009861	http://purl.obolibrary.org/obo/MONDO_0009861	NANDO:2201075
C0268146	MedGen UID:78644	Glucose-6-phosphate transport defect	http://www.ncbi.nlm.nih.gov/medgen/78644	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009288	http://purl.obolibrary.org/obo/MONDO_0009288	NANDO:2201154
C0268390	MedGen UID:120634	Familial amyloid nephropathy with urticaria AND deafness	http://www.ncbi.nlm.nih.gov/medgen/120634	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008633	http://purl.obolibrary.org/obo/MONDO_0008633	NANDO:2201067
C0268543	MedGen UID:120649	Hyperammonemia, type III	http://www.ncbi.nlm.nih.gov/medgen/120649	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009377	http://purl.obolibrary.org/obo/MONDO_0009377	NANDO:2201084
C0268601	MedGen UID:78692	Deficiency of hydroxymethylglutaryl-CoA lyase	http://www.ncbi.nlm.nih.gov/medgen/78692	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009520	http://purl.obolibrary.org/obo/MONDO_0009520	NANDO:2201119
C0431693	MedGen UID:96569	Renal cysts and diabetes syndrome	http://www.ncbi.nlm.nih.gov/medgen/96569	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007669	http://purl.obolibrary.org/obo/MONDO_0007669	NANDO:2201073
C0543514	MedGen UID:107772	Glycogen storage disease IXb	http://www.ncbi.nlm.nih.gov/medgen/107772	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009868	http://purl.obolibrary.org/obo/MONDO_0009868	NANDO:2201165
C1855861	MedGen UID:343430	Glycogen storage disorder due to hepatic glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/343430	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009414	http://purl.obolibrary.org/obo/MONDO_0009414	NANDO:2201151
C1856057	MedGen UID:344640	Methylcobalamin deficiency type cblE	http://www.ncbi.nlm.nih.gov/medgen/344640	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009354	http://purl.obolibrary.org/obo/MONDO_0009354	NANDO:2201109
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:2201164
C0086431	MedGen UID:88566	Mucopolysaccharidosis, MPS-I-H/S	http://www.ncbi.nlm.nih.gov/medgen/88566	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011759	http://purl.obolibrary.org/obo/MONDO_0011759	NANDO:2201170
C0086647	MedGen UID:39264	Mucopolysaccharidosis, MPS-III-A	http://www.ncbi.nlm.nih.gov/medgen/39264	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009655	http://purl.obolibrary.org/obo/MONDO_0009655	NANDO:2201174
C0086648	MedGen UID:88601	Mucopolysaccharidosis, MPS-III-B	http://www.ncbi.nlm.nih.gov/medgen/88601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009656	http://purl.obolibrary.org/obo/MONDO_0009656	NANDO:2201175
C0086795	MedGen UID:39698	Hurler syndrome	http://www.ncbi.nlm.nih.gov/medgen/39698	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0011758	http://purl.obolibrary.org/obo/MONDO_0011758	NANDO:2201168
C0342277	MedGen UID:87434	Maturity-onset diabetes of the young type 2	http://www.ncbi.nlm.nih.gov/medgen/87434	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007453	http://purl.obolibrary.org/obo/MONDO_0007453	NANDO:2201070
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2201133
C0342790	MedGen UID:137978	Carnitine palmitoyltransferase II deficiency	http://www.ncbi.nlm.nih.gov/medgen/137978	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0015515	http://purl.obolibrary.org/obo/MONDO_0015515	NANDO:2201134
C0342841	MedGen UID:575246	Mucopolysaccharidosis type 2, severe form	http://www.ncbi.nlm.nih.gov/medgen/575246	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016315	http://purl.obolibrary.org/obo/MONDO_0016315	NANDO:2201173
C1838100	MedGen UID:324942	Maturity-onset diabetes of the young type 3	http://www.ncbi.nlm.nih.gov/medgen/324942	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010894	http://purl.obolibrary.org/obo/MONDO_0010894	NANDO:2201071
C1845151	MedGen UID:335112	Glycogen storage disease IXd	http://www.ncbi.nlm.nih.gov/medgen/335112	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010362	http://purl.obolibrary.org/obo/MONDO_0010362	NANDO:2201167
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	NANDO:2201139
C1969054	MedGen UID:409741	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	http://www.ncbi.nlm.nih.gov/medgen/409741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012693	http://purl.obolibrary.org/obo/MONDO_0012693	NANDO:2201152
C1969443	MedGen UID:370665	Mitochondrial trifunctional protein deficiency	http://www.ncbi.nlm.nih.gov/medgen/370665	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0012172	http://purl.obolibrary.org/obo/MONDO_0012172	NANDO:2201147
C2751643	MedGen UID:442778	Glycogen storage disease IXc	http://www.ncbi.nlm.nih.gov/medgen/442778	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013091	http://purl.obolibrary.org/obo/MONDO_0013091	NANDO:2201166
C2919796	MedGen UID:415885	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	http://www.ncbi.nlm.nih.gov/medgen/415885	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009287	http://purl.obolibrary.org/obo/MONDO_0009287	NANDO:2201153
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:2201172
C1621920	MedGen UID:301223	Intermediate maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/301223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017052	http://purl.obolibrary.org/obo/MONDO_0017052	NANDO:2201079
C0268568	MedGen UID:78689	Classical maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/78689	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017051	http://purl.obolibrary.org/obo/MONDO_0017051	NANDO:2201078
C0268569	MedGen UID:78690	Intermittent maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/78690	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017053	http://purl.obolibrary.org/obo/MONDO_0017053	NANDO:2201080
C0268611	MedGen UID:75697	Arakawa syndrome 2	http://www.ncbi.nlm.nih.gov/medgen/75697	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0021915	http://purl.obolibrary.org/obo/MONDO_0021915	NANDO:2201111
C1856302	MedGen UID:344701	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	http://www.ncbi.nlm.nih.gov/medgen/344701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017696	http://purl.obolibrary.org/obo/MONDO_0017696	NANDO:2201160
C1856303	MedGen UID:383883	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	http://www.ncbi.nlm.nih.gov/medgen/383883	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017697	http://purl.obolibrary.org/obo/MONDO_0017697	NANDO:2201161
C0343068	MedGen UID:137986	Familial cold autoinflammatory syndrome	http://www.ncbi.nlm.nih.gov/medgen/137986	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018768	http://purl.obolibrary.org/obo/MONDO_0018768	NANDO:2201068
C0751285	MedGen UID:199627	Thiamine-responsive maple syrup urine disease	http://www.ncbi.nlm.nih.gov/medgen/199627	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017054	http://purl.obolibrary.org/obo/MONDO_0017054	NANDO:2201081
C5679618	MedGen UID:1843387	Acute neonatal citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/1843387	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016600	http://purl.obolibrary.org/obo/MONDO_0016600	NANDO:2201094
C5679815	MedGen UID:1826165	Mucopolysaccharidosis type 2, attenuated form	http://www.ncbi.nlm.nih.gov/medgen/1826165	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016316	http://purl.obolibrary.org/obo/MONDO_0016316	NANDO:2201171
C5679972	MedGen UID:1826169	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	http://www.ncbi.nlm.nih.gov/medgen/1826169	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017695	http://purl.obolibrary.org/obo/MONDO_0017695	NANDO:2201159
CN201794	MedGen UID:831252	Adult-onset citrullinemia type I	http://www.ncbi.nlm.nih.gov/medgen/831252	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016601	http://purl.obolibrary.org/obo/MONDO_0016601	NANDO:2201095
C0162531	MedGen UID:57931	Hereditary coproporphyria	http://www.ncbi.nlm.nih.gov/medgen/57931	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007369	http://purl.obolibrary.org/obo/MONDO_0007369	NANDO:2201264
C0162532	MedGen UID:58118	Variegate porphyria	http://www.ncbi.nlm.nih.gov/medgen/58118	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008297	http://purl.obolibrary.org/obo/MONDO_0008297	NANDO:2201265
C0162565	MedGen UID:56452	Acute intermittent porphyria	http://www.ncbi.nlm.nih.gov/medgen/56452	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008294	http://purl.obolibrary.org/obo/MONDO_0008294	NANDO:2201263
C0162568	MedGen UID:56455	Erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/56455	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001676	http://purl.obolibrary.org/obo/MONDO_0001676	NANDO:2201266
C0268250	MedGen UID:78652	Gaucher disease type II	http://www.ncbi.nlm.nih.gov/medgen/78652	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009266	http://purl.obolibrary.org/obo/MONDO_0009266	NANDO:2201211
C0268251	MedGen UID:78653	Gaucher disease type III	http://www.ncbi.nlm.nih.gov/medgen/78653	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009267	http://purl.obolibrary.org/obo/MONDO_0009267	NANDO:2201212
C0268262	MedGen UID:120624	Sphingolipid activator protein 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/120624	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009590	http://purl.obolibrary.org/obo/MONDO_0009590	NANDO:2201205
C0268271	MedGen UID:75665	Infantile GM1 gangliosidosis	http://www.ncbi.nlm.nih.gov/medgen/75665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009260	http://purl.obolibrary.org/obo/MONDO_0009260	NANDO:2201196
C0268272	MedGen UID:120625	GM1 gangliosidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/120625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009261	http://purl.obolibrary.org/obo/MONDO_0009261	NANDO:2201197
C0268273	MedGen UID:78655	GM1 gangliosidosis type 3	http://www.ncbi.nlm.nih.gov/medgen/78655	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009262	http://purl.obolibrary.org/obo/MONDO_0009262	NANDO:2201198
C0268337	MedGen UID:75670	Ehlers-Danlos syndrome, type 3	http://www.ncbi.nlm.nih.gov/medgen/75670	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007523	http://purl.obolibrary.org/obo/MONDO_0007523	NANDO:2201257
C0268626	MedGen UID:75701	Juvenile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/75701	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009066	http://purl.obolibrary.org/obo/MONDO_0009066	NANDO:2201235
C4225429	MedGen UID:909864	Ehlers-Danlos syndrome, classic type	http://www.ncbi.nlm.nih.gov/medgen/909864	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007522	http://purl.obolibrary.org/obo/MONDO_0007522	NANDO:2201256
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:2201192
C4282398	MedGen UID:924303	Sialidosis type 2	http://www.ncbi.nlm.nih.gov/medgen/924303	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009738	http://purl.obolibrary.org/obo/MONDO_0009738	NANDO:2201193
C4692546	MedGen UID:1643471	Protoporphyria, erythropoietic, 1	http://www.ncbi.nlm.nih.gov/medgen/1643471	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008319	http://purl.obolibrary.org/obo/MONDO_0008319	NANDO:2201266
C0086649	MedGen UID:39477	Mucopolysaccharidosis, MPS-III-C	http://www.ncbi.nlm.nih.gov/medgen/39477	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009657	http://purl.obolibrary.org/obo/MONDO_0009657	NANDO:2201176
C0086650	MedGen UID:88602	Mucopolysaccharidosis, MPS-III-D	http://www.ncbi.nlm.nih.gov/medgen/88602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009658	http://purl.obolibrary.org/obo/MONDO_0009658	NANDO:2201177
C0086651	MedGen UID:43375	Mucopolysaccharidosis, MPS-IV-A	http://www.ncbi.nlm.nih.gov/medgen/43375	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009659	http://purl.obolibrary.org/obo/MONDO_0009659	NANDO:2201178
C0086652	MedGen UID:43376	Mucopolysaccharidosis, MPS-IV-B	http://www.ncbi.nlm.nih.gov/medgen/43376	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009660	http://purl.obolibrary.org/obo/MONDO_0009660	NANDO:2201179
C4551623	MedGen UID:1645042	Ehlers-Danlos syndrome, arthrochalasia type	http://www.ncbi.nlm.nih.gov/medgen/1645042	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007525	http://purl.obolibrary.org/obo/MONDO_0007525	NANDO:2201260
C1876161	MedGen UID:406281	Neuronal ceroid lipofuscinosis 2	http://www.ncbi.nlm.nih.gov/medgen/406281	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008769	http://purl.obolibrary.org/obo/MONDO_0008769	NANDO:2201242
C1961835	MedGen UID:409531	Gaucher disease type I	http://www.ncbi.nlm.nih.gov/medgen/409531	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009265	http://purl.obolibrary.org/obo/MONDO_0009265	NANDO:2201210
C2700425	MedGen UID:397792	Ehlers-Danlos syndrome, dermatosparaxis type	http://www.ncbi.nlm.nih.gov/medgen/397792	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009161	http://purl.obolibrary.org/obo/MONDO_0009161	NANDO:2201261
C2931013	MedGen UID:419313	Ocular cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009064	http://purl.obolibrary.org/obo/MONDO_0009064	NANDO:2201236
C0751276	MedGen UID:155528	Metachromatic leukodystrophy, juvenile type	http://www.ncbi.nlm.nih.gov/medgen/155528	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009591	http://purl.obolibrary.org/obo/MONDO_0009591	NANDO:2201203
C4048196	MedGen UID:888408	Beta-D-mannosidosis	http://www.ncbi.nlm.nih.gov/medgen/888408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009562	http://purl.obolibrary.org/obo/MONDO_0009562	NANDO:2201190
C5681331	MedGen UID:1826154	Inherited aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/1826154	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0001713	http://purl.obolibrary.org/obo/MONDO_0001713	NANDO:2201275
C1850451	MedGen UID:340540	Neuronal ceroid lipofuscinosis 1	http://www.ncbi.nlm.nih.gov/medgen/340540	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0009744	http://purl.obolibrary.org/obo/MONDO_0009744	NANDO:2201241
C0002312	MedGen UID:1434	alpha Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/1434	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011399	http://purl.obolibrary.org/obo/MONDO_0011399	NANDO:2201273
C0005283	MedGen UID:2611	beta Thalassemia	http://www.ncbi.nlm.nih.gov/medgen/2611	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019402	http://purl.obolibrary.org/obo/MONDO_0019402	NANDO:2201274
C0008384	MedGen UID:40266	Cholesteryl ester storage disease	http://www.ncbi.nlm.nih.gov/medgen/40266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019149	http://purl.obolibrary.org/obo/MONDO_0019149	NANDO:2201233
C0162530	MedGen UID:102408	Cutaneous porphyria	http://www.ncbi.nlm.nih.gov/medgen/102408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009902	http://purl.obolibrary.org/obo/MONDO_0009902	NANDO:2201268
C0162566	MedGen UID:56453	Porphyria cutanea tarda	http://www.ncbi.nlm.nih.gov/medgen/56453	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015104	http://purl.obolibrary.org/obo/MONDO_0015104	NANDO:2201267
C0162569	MedGen UID:57940	Hepatoerythropoietic porphyria	http://www.ncbi.nlm.nih.gov/medgen/57940	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019799	http://purl.obolibrary.org/obo/MONDO_0019799	NANDO:2201270
C1970859	MedGen UID:370369	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	http://www.ncbi.nlm.nih.gov/medgen/370369	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010389	http://purl.obolibrary.org/obo/MONDO_0010389	NANDO:2201279
C2026514	MedGen UID:1708324	X-linked cerebral adrenoleukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1708324	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010247	http://purl.obolibrary.org/obo/MONDO_0010247	NANDO:2201246
C2677889	MedGen UID:394385	X-linked erythropoietic protoporphyria	http://www.ncbi.nlm.nih.gov/medgen/394385	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010420	http://purl.obolibrary.org/obo/MONDO_0010420	NANDO:2201269
C2931251	MedGen UID:419756	Alpha-mannosidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/419756	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0022424	http://purl.obolibrary.org/obo/MONDO_0022424	NANDO:2201188
C0022797	MedGen UID:7230	Adult neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/7230	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019260	http://purl.obolibrary.org/obo/MONDO_0019260	NANDO:2201244
C0023806	MedGen UID:44174	Sialidosis type 1	http://www.ncbi.nlm.nih.gov/medgen/44174	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019346	http://purl.obolibrary.org/obo/MONDO_0019346	NANDO:2201191
C0268242	MedGen UID:78650	Niemann-Pick disease, type A	http://www.ncbi.nlm.nih.gov/medgen/78650	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009756	http://purl.obolibrary.org/obo/MONDO_0009756	NANDO:2201206
C0268243	MedGen UID:78651	Niemann-Pick disease, type B	http://www.ncbi.nlm.nih.gov/medgen/78651	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011871	http://purl.obolibrary.org/obo/MONDO_0011871	NANDO:2201207
C0268252	MedGen UID:120623	Adult Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/120623	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016091	http://purl.obolibrary.org/obo/MONDO_0016091	NANDO:2201219
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:2201227
C0268263	MedGen UID:75664	Multiple sulfatase deficiency	http://www.ncbi.nlm.nih.gov/medgen/75664	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010088	http://purl.obolibrary.org/obo/MONDO_0010088	NANDO:2201228
C0268275	MedGen UID:78657	Tay-Sachs disease, variant AB	http://www.ncbi.nlm.nih.gov/medgen/78657	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010099	http://purl.obolibrary.org/obo/MONDO_0010099	NANDO:2201201
C0268281	MedGen UID:75666	Infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/75666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019261	http://purl.obolibrary.org/obo/MONDO_0019261	NANDO:2201241
C0268338	MedGen UID:82790	Ehlers-Danlos syndrome, type 4	http://www.ncbi.nlm.nih.gov/medgen/82790	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017314	http://purl.obolibrary.org/obo/MONDO_0017314	NANDO:2201258
C0268342	MedGen UID:75672	Ehlers-Danlos syndrome, kyphoscoliotic type 1	http://www.ncbi.nlm.nih.gov/medgen/75672	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0016002	http://purl.obolibrary.org/obo/MONDO_0016002	NANDO:2201259
C0348890	MedGen UID:87595	Idiopathic aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/87595	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012197	http://purl.obolibrary.org/obo/MONDO_0012197	NANDO:2201276
C1096902	MedGen UID:203367	Sialic acid storage disease, severe infantile type	http://www.ncbi.nlm.nih.gov/medgen/203367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010027	http://purl.obolibrary.org/obo/MONDO_0010027	NANDO:2201237
C3537440	MedGen UID:760976	Infantile nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/760976	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018467	http://purl.obolibrary.org/obo/MONDO_0018467	NANDO:2201234
C0342881	MedGen UID:575266	Homozygous familial hypercholesterolemia	http://www.ncbi.nlm.nih.gov/medgen/575266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018328	http://purl.obolibrary.org/obo/MONDO_0018328	NANDO:2201255
C3888924	MedGen UID:923868	Glycogen storage disease due to acid maltase deficiency, infantile onset	http://www.ncbi.nlm.nih.gov/medgen/923868	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017694	http://purl.obolibrary.org/obo/MONDO_0017694	NANDO:2201229
C0036161	MedGen UID:11313	Sandhoff disease	http://www.ncbi.nlm.nih.gov/medgen/11313	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010006	http://purl.obolibrary.org/obo/MONDO_0010006	NANDO:2201200
C0039373	MedGen UID:11713	Tay-Sachs disease	http://www.ncbi.nlm.nih.gov/medgen/11713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010100	http://purl.obolibrary.org/obo/MONDO_0010100	NANDO:2201199
C0043208	MedGen UID:53088	Wolman disease	http://www.ncbi.nlm.nih.gov/medgen/53088	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019148	http://purl.obolibrary.org/obo/MONDO_0019148	NANDO:2201232
C0271907	MedGen UID:543648	Acquired aplastic anemia	http://www.ncbi.nlm.nih.gov/medgen/543648	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015610	http://purl.obolibrary.org/obo/MONDO_0015610	NANDO:2201277
C1866294	MedGen UID:356497	Ehlers-Danlos syndrome, musculocontractural type	http://www.ncbi.nlm.nih.gov/medgen/356497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011142	http://purl.obolibrary.org/obo/MONDO_0011142	NANDO:2201262
C2931187	MedGen UID:419735	Nephropathic cystinosis	http://www.ncbi.nlm.nih.gov/medgen/419735	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100151	http://purl.obolibrary.org/obo/MONDO_0100151	NANDO:2201234
C0022340	MedGen UID:9589	Late-infantile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/9589	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015674	http://purl.obolibrary.org/obo/MONDO_0015674	NANDO:2201242
C0751273	MedGen UID:148270	Infantile Krabbe disease	http://www.ncbi.nlm.nih.gov/medgen/148270	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016089	http://purl.obolibrary.org/obo/MONDO_0016089	NANDO:2201216
C0751278	MedGen UID:155529	Metachromatic leukodystrophy, late infantile form	http://www.ncbi.nlm.nih.gov/medgen/155529	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017729	http://purl.obolibrary.org/obo/MONDO_0017729	NANDO:2201202
C0751279	MedGen UID:199625	Metachromatic leukodystrophy, adult type	http://www.ncbi.nlm.nih.gov/medgen/199625	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017730	http://purl.obolibrary.org/obo/MONDO_0017730	NANDO:2201204
C1527231	MedGen UID:315918	Adrenomyeloneuropathy	http://www.ncbi.nlm.nih.gov/medgen/315918	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015339	http://purl.obolibrary.org/obo/MONDO_0015339	NANDO:2201248
C5679974	MedGen UID:1843432	Alpha-mannosidosis, adult form	http://www.ncbi.nlm.nih.gov/medgen/1843432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017733	http://purl.obolibrary.org/obo/MONDO_0017733	NANDO:2201189
C5680869	MedGen UID:1826101	Niemann-Pick disease type C, adult neurologic onset	http://www.ncbi.nlm.nih.gov/medgen/1826101	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016310	http://purl.obolibrary.org/obo/MONDO_0016310	NANDO:2201209
C5681076	MedGen UID:1843217	Intermediate severe Salla disease	http://www.ncbi.nlm.nih.gov/medgen/1843217	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017737	http://purl.obolibrary.org/obo/MONDO_0017737	NANDO:2201238
CN293564	MedGen UID:978346	Juvenile neuronal ceroid lipofuscinosis	http://www.ncbi.nlm.nih.gov/medgen/978346	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019262	http://purl.obolibrary.org/obo/MONDO_0019262	NANDO:2201243
C1835437	MedGen UID:331974	Platyspondylic dysplasia, Torrance type	http://www.ncbi.nlm.nih.gov/medgen/331974	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007895	http://purl.obolibrary.org/obo/MONDO_0007895	NANDO:2201347
C0205711	MedGen UID:61440	Pelizaeus-Merzbacher disease	http://www.ncbi.nlm.nih.gov/medgen/61440	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010714	http://purl.obolibrary.org/obo/MONDO_0010714	NANDO:2201288
C0220685	MedGen UID:66315	Achondrogenesis type II	http://www.ncbi.nlm.nih.gov/medgen/66315	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008702	http://purl.obolibrary.org/obo/MONDO_0008702	NANDO:2201345
C0410539	MedGen UID:96080	Craniodiaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/96080	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009031	http://purl.obolibrary.org/obo/MONDO_0009031	NANDO:2201368
C2020284	MedGen UID:810955	Stickler syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/810955	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007160	http://purl.obolibrary.org/obo/MONDO_0007160	NANDO:2201354
C2675179	MedGen UID:436367	Arginine:glycine amidinotransferase deficiency	http://www.ncbi.nlm.nih.gov/medgen/436367	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012996	http://purl.obolibrary.org/obo/MONDO_0012996	NANDO:2201299
C2676243	MedGen UID:390993	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	http://www.ncbi.nlm.nih.gov/medgen/390993	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011897	http://purl.obolibrary.org/obo/MONDO_0011897	NANDO:2201297
C2676244	MedGen UID:436642	Hypomyelinating leukodystrophy 6	http://www.ncbi.nlm.nih.gov/medgen/436642	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012905	http://purl.obolibrary.org/obo/MONDO_0012905	NANDO:2201290
C2677109	MedGen UID:383026	Hypomyelinating leukodystrophy 4	http://www.ncbi.nlm.nih.gov/medgen/383026	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012824	http://purl.obolibrary.org/obo/MONDO_0012824	NANDO:2201293
C2986717	MedGen UID:458943	Anti-NMDA receptor encephalitis	http://www.ncbi.nlm.nih.gov/medgen/458943	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0021081	http://purl.obolibrary.org/obo/MONDO_0021081	NANDO:2201317
C3149631	MedGen UID:460981	Melorheostosis	http://www.ncbi.nlm.nih.gov/medgen/460981	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007970	http://purl.obolibrary.org/obo/MONDO_0007970	NANDO:2201364
C3151409	MedGen UID:462759	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	http://www.ncbi.nlm.nih.gov/medgen/462759	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013507	http://purl.obolibrary.org/obo/MONDO_0013507	NANDO:2201283
C0027873	MedGen UID:45063	Neuromyelitis optica	http://www.ncbi.nlm.nih.gov/medgen/45063	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019100	http://purl.obolibrary.org/obo/MONDO_0019100	NANDO:2201322
C0268374	MedGen UID:82798	Junctional epidermolysis bullosa, non-Herlitz type	http://www.ncbi.nlm.nih.gov/medgen/82798	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009180	http://purl.obolibrary.org/obo/MONDO_0009180	NANDO:2201379
C0432214	MedGen UID:609409	Namaqualand hip dysplasia	http://www.ncbi.nlm.nih.gov/medgen/609409	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011496	http://purl.obolibrary.org/obo/MONDO_0011496	NANDO:2201352
C0432224	MedGen UID:98147	Chondrodysplasia punctata, MT type	http://www.ncbi.nlm.nih.gov/medgen/98147	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007322	http://purl.obolibrary.org/obo/MONDO_0007322	NANDO:2201359
C0432262	MedGen UID:98150	Dysosteosclerosis	http://www.ncbi.nlm.nih.gov/medgen/98150	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009138	http://purl.obolibrary.org/obo/MONDO_0009138	NANDO:2201365
C0432443	MedGen UID:96605	Deletion of long arm of chromosome 18	http://www.ncbi.nlm.nih.gov/medgen/96605	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011147	http://purl.obolibrary.org/obo/MONDO_0011147	NANDO:2201291
C0542428	MedGen UID:107448	Hypochondrogenesis	http://www.ncbi.nlm.nih.gov/medgen/107448	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019669	http://purl.obolibrary.org/obo/MONDO_0019669	NANDO:2201346
C1096903	MedGen UID:203368	Salla disease	http://www.ncbi.nlm.nih.gov/medgen/203368	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011449	http://purl.obolibrary.org/obo/MONDO_0011449	NANDO:2201294
C1856245	MedGen UID:383869	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	http://www.ncbi.nlm.nih.gov/medgen/383869	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009310	http://purl.obolibrary.org/obo/MONDO_0009310	NANDO:2201282
C1856251	MedGen UID:341102	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	http://www.ncbi.nlm.nih.gov/medgen/341102	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009309	http://purl.obolibrary.org/obo/MONDO_0009309	NANDO:2201281
C1856255	MedGen UID:383872	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	http://www.ncbi.nlm.nih.gov/medgen/383872	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009308	http://purl.obolibrary.org/obo/MONDO_0009308	NANDO:2201280
C3669395	MedGen UID:777171	X-linked chondrodysplasia punctata 1	http://www.ncbi.nlm.nih.gov/medgen/777171	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	NANDO:2201360
C3669395	MedGen UID:777171	X-linked chondrodysplasia punctata 1	http://www.ncbi.nlm.nih.gov/medgen/777171	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010555	http://purl.obolibrary.org/obo/MONDO_0010555	NANDO:2201356
C4274084	MedGen UID:894734	Pelizaeus Merzbacher like disease	http://www.ncbi.nlm.nih.gov/medgen/894734	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017226	http://purl.obolibrary.org/obo/MONDO_0017226	NANDO:2201289
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:2201341
C0079298	MedGen UID:86896	Epidermolysis bullosa simplex	http://www.ncbi.nlm.nih.gov/medgen/86896	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0017610	http://purl.obolibrary.org/obo/MONDO_0017610	NANDO:2201375
C0079301	MedGen UID:86898	Junctional epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/86898	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017612	http://purl.obolibrary.org/obo/MONDO_0017612	NANDO:2201342
C0079474	MedGen UID:36311	Recessive dystrophic epidermolysis bullosa	http://www.ncbi.nlm.nih.gov/medgen/36311	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009179	http://purl.obolibrary.org/obo/MONDO_0009179	NANDO:2201383
C0079683	MedGen UID:36328	Junctional epidermolysis bullosa gravis of Herlitz	http://www.ncbi.nlm.nih.gov/medgen/36328	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009182	http://purl.obolibrary.org/obo/MONDO_0009182	NANDO:2201378
C0700635	MedGen UID:147134	Spondyloepimetaphyseal dysplasia, Strudwick type	http://www.ncbi.nlm.nih.gov/medgen/147134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008476	http://purl.obolibrary.org/obo/MONDO_0008476	NANDO:2201349
C1836683	MedGen UID:324580	Spondyloepiphyseal dysplasia with metatarsal shortening	http://www.ncbi.nlm.nih.gov/medgen/324580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012206	http://purl.obolibrary.org/obo/MONDO_0012206	NANDO:2201353
C1836727	MedGen UID:373160	PCWH syndrome	http://www.ncbi.nlm.nih.gov/medgen/373160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012198	http://purl.obolibrary.org/obo/MONDO_0012198	NANDO:2201298
C1845862	MedGen UID:337451	Creatine transporter deficiency	http://www.ncbi.nlm.nih.gov/medgen/337451	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010305	http://purl.obolibrary.org/obo/MONDO_0010305	NANDO:2201301
C5676875	MedGen UID:1810975	Junctional epidermolysis bullosa with pyloric atresia	http://www.ncbi.nlm.nih.gov/medgen/1810975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009183	http://purl.obolibrary.org/obo/MONDO_0009183	NANDO:2201380
C0282102	MedGen UID:79381	Chondrodysplasia punctata 2 X-linked dominant	http://www.ncbi.nlm.nih.gov/medgen/79381	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020603	http://purl.obolibrary.org/obo/MONDO_0020603	NANDO:2201357
C1864663	MedGen UID:501134	Hypomyelination and Congenital Cataract	http://www.ncbi.nlm.nih.gov/medgen/501134	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012514	http://purl.obolibrary.org/obo/MONDO_0012514	NANDO:2201296
C2745959	MedGen UID:412530	Spondyloepiphyseal dysplasia congenita	http://www.ncbi.nlm.nih.gov/medgen/412530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008471	http://purl.obolibrary.org/obo/MONDO_0008471	NANDO:2201348
C2931048	MedGen UID:418969	Greenberg dysplasia	http://www.ncbi.nlm.nih.gov/medgen/418969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008974	http://purl.obolibrary.org/obo/MONDO_0008974	NANDO:2201361
C2931072	MedGen UID:418981	Epidermolysis bullosa simplex 5B, with muscular dystrophy	http://www.ncbi.nlm.nih.gov/medgen/418981	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009181	http://purl.obolibrary.org/obo/MONDO_0009181	NANDO:2201376
C4511620	MedGen UID:1377523	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	http://www.ncbi.nlm.nih.gov/medgen/1377523	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008264	http://purl.obolibrary.org/obo/MONDO_0008264	NANDO:2201386
C0265260	MedGen UID:75557	Grebe syndrome	http://www.ncbi.nlm.nih.gov/medgen/75557	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	NANDO:2201346
C0265260	MedGen UID:75557	Grebe syndrome	http://www.ncbi.nlm.nih.gov/medgen/75557	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008703	http://purl.obolibrary.org/obo/MONDO_0008703	NANDO:2201345
C0265279	MedGen UID:75559	Kniest dysplasia	http://www.ncbi.nlm.nih.gov/medgen/75559	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007987	http://purl.obolibrary.org/obo/MONDO_0007987	NANDO:2201350
C0265292	MedGen UID:82702	Craniometaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82702	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015465	http://purl.obolibrary.org/obo/MONDO_0015465	NANDO:2201366
C0265294	MedGen UID:82704	Pyle metaphyseal dysplasia	http://www.ncbi.nlm.nih.gov/medgen/82704	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009943	http://purl.obolibrary.org/obo/MONDO_0009943	NANDO:2201367
C0265301	MedGen UID:120530	Sclerosteosis	http://www.ncbi.nlm.nih.gov/medgen/120530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017838	http://purl.obolibrary.org/obo/MONDO_0017838	NANDO:2201369
C0559459	MedGen UID:107852	Sacrococcygeal teratoma	http://www.ncbi.nlm.nih.gov/medgen/107852	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0042727	http://purl.obolibrary.org/obo/MONDO_0042727	NANDO:2201287
C0574080	MedGen UID:154356	Deficiency of guanidinoacetate methyltransferase	http://www.ncbi.nlm.nih.gov/medgen/154356	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012999	http://purl.obolibrary.org/obo/MONDO_0012999	NANDO:2201300
C0751964	MedGen UID:155968	Primary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155968	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000451	http://purl.obolibrary.org/obo/MONDO_0000451	NANDO:2201320
C0751965	MedGen UID:155969	Secondary progressive multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155969	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000450	http://purl.obolibrary.org/obo/MONDO_0000450	NANDO:2201321
C0751967	MedGen UID:155669	Relapsing remitting multiple sclerosis	http://www.ncbi.nlm.nih.gov/medgen/155669	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005314	http://purl.obolibrary.org/obo/MONDO_0005314	NANDO:2201319
C0795889	MedGen UID:208645	Allan-Herndon-Dudley syndrome	http://www.ncbi.nlm.nih.gov/medgen/208645	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010354	http://purl.obolibrary.org/obo/MONDO_0010354	NANDO:2201292
C0795949	MedGen UID:167086	Galloway-Mowat syndrome	http://www.ncbi.nlm.nih.gov/medgen/167086	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009627	http://purl.obolibrary.org/obo/MONDO_0009627	NANDO:2201385
C0796173	MedGen UID:163223	Spondyloperipheral dysplasia	http://www.ncbi.nlm.nih.gov/medgen/163223	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010078	http://purl.obolibrary.org/obo/MONDO_0010078	NANDO:2201351
C1300228	MedGen UID:224886	Astley-Kendall dysplasia	http://www.ncbi.nlm.nih.gov/medgen/224886	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019408	http://purl.obolibrary.org/obo/MONDO_0019408	NANDO:2201362
CN236409	MedGen UID:880851	Interfrontal craniofaciosynostosis	http://www.ncbi.nlm.nih.gov/medgen/880851	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018065	http://purl.obolibrary.org/obo/MONDO_0018065	NANDO:2201305
C1609433	MedGen UID:296299	Bilateral renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/296299	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015986	http://purl.obolibrary.org/obo/MONDO_0015986	NANDO:2201462
C1848137	MedGen UID:338393	Developmental and epileptic encephalopathy, 9	http://www.ncbi.nlm.nih.gov/medgen/338393	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010246	http://purl.obolibrary.org/obo/MONDO_0010246	NANDO:2201404
C1849508	MedGen UID:340341	Pyridoxine-dependent epilepsy	http://www.ncbi.nlm.nih.gov/medgen/340341	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009945	http://purl.obolibrary.org/obo/MONDO_0009945	NANDO:2201409
C1853271	MedGen UID:501133	Autosomal recessive hypophosphatemic bone disease	http://www.ncbi.nlm.nih.gov/medgen/501133	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009431	http://purl.obolibrary.org/obo/MONDO_0009431	NANDO:2201479
C1854630	MedGen UID:340266	Wiedemann-Steiner syndrome	http://www.ncbi.nlm.nih.gov/medgen/340266	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011518	http://purl.obolibrary.org/obo/MONDO_0011518	NANDO:2201417
C0175713	MedGen UID:61236	Aicardi syndrome	http://www.ncbi.nlm.nih.gov/medgen/61236	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010568	http://purl.obolibrary.org/obo/MONDO_0010568	NANDO:2201397
C0220989	MedGen UID:66352	Acquired partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/66352	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012104	http://purl.obolibrary.org/obo/MONDO_0012104	NANDO:2201447
C0221032	MedGen UID:67438	Congenital generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/67438	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0006536	http://purl.obolibrary.org/obo/MONDO_0006536	NANDO:2201444
C1970431	MedGen UID:370910	Pitt-Hopkins syndrome	http://www.ncbi.nlm.nih.gov/medgen/370910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012589	http://purl.obolibrary.org/obo/MONDO_0012589	NANDO:2201419
C2677903	MedGen UID:437070	Syndromic X-linked intellectual disability Najm type	http://www.ncbi.nlm.nih.gov/medgen/437070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010417	http://purl.obolibrary.org/obo/MONDO_0010417	NANDO:2201393
C3151411	MedGen UID:462761	Intellectual disability, autosomal dominant 6	http://www.ncbi.nlm.nih.gov/medgen/462761	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013509	http://purl.obolibrary.org/obo/MONDO_0013509	NANDO:2201400
C5393299	MedGen UID:1715418	Intellectual disability, X-linked 102	http://www.ncbi.nlm.nih.gov/medgen/1715418	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010497	http://purl.obolibrary.org/obo/MONDO_0010497	NANDO:2201395
C5848259	MedGen UID:1845578	Werdnig-Hoffmann disease	http://www.ncbi.nlm.nih.gov/medgen/1845578	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009669	http://purl.obolibrary.org/obo/MONDO_0009669	NANDO:2201430
C0023976	MedGen UID:44193	Long QT syndrome	http://www.ncbi.nlm.nih.gov/medgen/44193	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0002442	http://purl.obolibrary.org/obo/MONDO_0002442	NANDO:2201452
C0393538	MedGen UID:95975	Spinal muscular atrophy, type II	http://www.ncbi.nlm.nih.gov/medgen/95975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009673	http://purl.obolibrary.org/obo/MONDO_0009673	NANDO:2201431
C1262481	MedGen UID:220382	Eosinophilic gastroenteritis	http://www.ncbi.nlm.nih.gov/medgen/220382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016129	http://purl.obolibrary.org/obo/MONDO_0016129	NANDO:2201440
C1274103	MedGen UID:226893	Tumor-induced osteomalacia	http://www.ncbi.nlm.nih.gov/medgen/226893	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018124	http://purl.obolibrary.org/obo/MONDO_0018124	NANDO:2201480
C3489789	MedGen UID:483742	Progressive familial intrahepatic cholestasis type 2	http://www.ncbi.nlm.nih.gov/medgen/483742	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011156	http://purl.obolibrary.org/obo/MONDO_0011156	NANDO:2201437
C3494976	MedGen UID:782160	Malignant migrating partial seizures of infancy	http://www.ncbi.nlm.nih.gov/medgen/782160	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017385	http://purl.obolibrary.org/obo/MONDO_0017385	NANDO:2201408
C3550973	MedGen UID:763887	Neurodegeneration with brain iron accumulation 5	http://www.ncbi.nlm.nih.gov/medgen/763887	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	NANDO:2201414
C4273131	MedGen UID:1636666	Branchiootic syndrome	http://www.ncbi.nlm.nih.gov/medgen/1636666	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018878	http://purl.obolibrary.org/obo/MONDO_0018878	NANDO:2201391
C4749332	MedGen UID:1669432	Proton-pump inhibitor-responsive esophageal eosinophilia	http://www.ncbi.nlm.nih.gov/medgen/1669432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018468	http://purl.obolibrary.org/obo/MONDO_0018468	NANDO:2201441
C4750837	MedGen UID:1656239	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	http://www.ncbi.nlm.nih.gov/medgen/1656239	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014205	http://purl.obolibrary.org/obo/MONDO_0014205	NANDO:2201416
C0152109	MedGen UID:101816	Kugelberg-Welander disease	http://www.ncbi.nlm.nih.gov/medgen/101816	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009672	http://purl.obolibrary.org/obo/MONDO_0009672	NANDO:2201432
C0341106	MedGen UID:83318	Eosinophilic esophagitis	http://www.ncbi.nlm.nih.gov/medgen/83318	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0005361	http://purl.obolibrary.org/obo/MONDO_0005361	NANDO:2201439
C0342418	MedGen UID:137970	Hamartoma of hypothalamus	http://www.ncbi.nlm.nih.gov/medgen/137970	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009436	http://purl.obolibrary.org/obo/MONDO_0009436	NANDO:2201401
C1838230	MedGen UID:325364	Spinal muscular atrophy, type IV	http://www.ncbi.nlm.nih.gov/medgen/325364	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010056	http://purl.obolibrary.org/obo/MONDO_0010056	NANDO:2201433
C4015316	MedGen UID:863753	Developmental and epileptic encephalopathy, 27	http://www.ncbi.nlm.nih.gov/medgen/863753	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0014505	http://purl.obolibrary.org/obo/MONDO_0014505	NANDO:2201400
C4551898	MedGen UID:1645830	Progressive familial intrahepatic cholestasis type 1	http://www.ncbi.nlm.nih.gov/medgen/1645830	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008892	http://purl.obolibrary.org/obo/MONDO_0008892	NANDO:2201436
C0039743	MedGen UID:21124	Thanatophoric dysplasia	http://www.ncbi.nlm.nih.gov/medgen/21124	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017042	http://purl.obolibrary.org/obo/MONDO_0017042	NANDO:2201426
C0282512	MedGen UID:79465	Landau-Kleffner syndrome	http://www.ncbi.nlm.nih.gov/medgen/79465	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009509	http://purl.obolibrary.org/obo/MONDO_0009509	NANDO:2201429
C0282577	MedGen UID:76469	Congenital disorder of glycosylation	http://www.ncbi.nlm.nih.gov/medgen/76469	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015286	http://purl.obolibrary.org/obo/MONDO_0015286	NANDO:2201396
C1864723	MedGen UID:350498	Pyridoxal phosphate-responsive seizures	http://www.ncbi.nlm.nih.gov/medgen/350498	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012407	http://purl.obolibrary.org/obo/MONDO_0012407	NANDO:2201411
C1865643	MedGen UID:356333	Progressive familial intrahepatic cholestasis type 3	http://www.ncbi.nlm.nih.gov/medgen/356333	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011214	http://purl.obolibrary.org/obo/MONDO_0011214	NANDO:2201438
C1868081	MedGen UID:356898	Generalized juvenile polyposis/juvenile polyposis coli	http://www.ncbi.nlm.nih.gov/medgen/356898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008276	http://purl.obolibrary.org/obo/MONDO_0008276	NANDO:2201454
C1868081	MedGen UID:356898	Generalized juvenile polyposis/juvenile polyposis coli	http://www.ncbi.nlm.nih.gov/medgen/356898	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0008276	http://purl.obolibrary.org/obo/MONDO_0008276	NANDO:2201457
C1868678	MedGen UID:358383	Thanatophoric dysplasia type 1	http://www.ncbi.nlm.nih.gov/medgen/358383	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008546	http://purl.obolibrary.org/obo/MONDO_0008546	NANDO:2201427
C2750481	MedGen UID:442490	Factor XIII, b subunit, deficiency of	http://www.ncbi.nlm.nih.gov/medgen/442490	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013190	http://purl.obolibrary.org/obo/MONDO_0013190	NANDO:2201459
C2750514	MedGen UID:442497	Factor XIII, A subunit, deficiency of	http://www.ncbi.nlm.nih.gov/medgen/442497	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013187	http://purl.obolibrary.org/obo/MONDO_0013187	NANDO:2201460
C2751310	MedGen UID:414347	Familial juvenile hyperuricemic nephropathy type 2	http://www.ncbi.nlm.nih.gov/medgen/414347	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013128	http://purl.obolibrary.org/obo/MONDO_0013128	NANDO:2201389
C4310741	MedGen UID:934708	Hyperuricemic nephropathy, familial juvenile type 4	http://www.ncbi.nlm.nih.gov/medgen/934708	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014891	http://purl.obolibrary.org/obo/MONDO_0014891	NANDO:2201390
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201465
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201464
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201466
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201463
C0019569	MedGen UID:5559	Aganglionic megacolon	http://www.ncbi.nlm.nih.gov/medgen/5559	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0018309	http://purl.obolibrary.org/obo/MONDO_0018309	NANDO:2201467
C0019829	MedGen UID:9283	Classic Hodgkin lymphoma	http://www.ncbi.nlm.nih.gov/medgen/9283	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009348	http://purl.obolibrary.org/obo/MONDO_0009348	NANDO:2201476
C0022387	MedGen UID:5929	Jervell and Lange-Nielsen syndrome	http://www.ncbi.nlm.nih.gov/medgen/5929	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002441	http://purl.obolibrary.org/obo/MONDO_0002441	NANDO:2201453
C0265223	MedGen UID:78539	Cohen syndrome	http://www.ncbi.nlm.nih.gov/medgen/78539	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008999	http://purl.obolibrary.org/obo/MONDO_0008999	NANDO:2201418
C0265234	MedGen UID:82693	Melnick-Fraser syndrome	http://www.ncbi.nlm.nih.gov/medgen/82693	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007029	http://purl.obolibrary.org/obo/MONDO_0007029	NANDO:2201391
C0265264	MedGen UID:120524	Holt-Oram syndrome	http://www.ncbi.nlm.nih.gov/medgen/120524	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007732	http://purl.obolibrary.org/obo/MONDO_0007732	NANDO:2201392
C0265482	MedGen UID:489853	Ring chromosome 20 syndrome	http://www.ncbi.nlm.nih.gov/medgen/489853	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015436	http://purl.obolibrary.org/obo/MONDO_0015436	NANDO:2201399
C0856761	MedGen UID:163632	Budd-Chiari syndrome	http://www.ncbi.nlm.nih.gov/medgen/163632	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010947	http://purl.obolibrary.org/obo/MONDO_0010947	NANDO:2201475
C1300257	MedGen UID:226975	Thanatophoric dysplasia, type 2	http://www.ncbi.nlm.nih.gov/medgen/226975	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008547	http://purl.obolibrary.org/obo/MONDO_0008547	NANDO:2201428
C1527336	MedGen UID:282890	Sjogren syndrome	http://www.ncbi.nlm.nih.gov/medgen/282890	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0010030	http://purl.obolibrary.org/obo/MONDO_0010030	NANDO:2201468
CN262437	MedGen UID:945467	Berardinelli-Seip congenital lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/945467	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018883	http://purl.obolibrary.org/obo/MONDO_0018883	NANDO:2201444
C1704375	MedGen UID:309957	Hypophosphatemic rickets	http://www.ncbi.nlm.nih.gov/medgen/309957	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0024300	http://purl.obolibrary.org/obo/MONDO_0024300	NANDO:2201477
C1833104	MedGen UID:371484	Permanent neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/371484	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100164	http://purl.obolibrary.org/obo/MONDO_0100164	NANDO:2201435
C0221018	MedGen UID:65119	Hereditary sideroblastic anemia	http://www.ncbi.nlm.nih.gov/medgen/65119	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020099	http://purl.obolibrary.org/obo/MONDO_0020099	NANDO:2201470
C0431391	MedGen UID:140910	Hemimegalencephaly	http://www.ncbi.nlm.nih.gov/medgen/140910	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020492	http://purl.obolibrary.org/obo/MONDO_0020492	NANDO:2201394
C0266294	MedGen UID:75607	Unilateral renal agenesis	http://www.ncbi.nlm.nih.gov/medgen/75607	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019636	http://purl.obolibrary.org/obo/MONDO_0019636	NANDO:2201461
C0393703	MedGen UID:140741	Epilepsy with myoclonic absences	http://www.ncbi.nlm.nih.gov/medgen/140741	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019487	http://purl.obolibrary.org/obo/MONDO_0019487	NANDO:2201406
C0393706	MedGen UID:97959	Early infantile epileptic encephalopathy with suppression bursts	http://www.ncbi.nlm.nih.gov/medgen/97959	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100062	http://purl.obolibrary.org/obo/MONDO_0100062	NANDO:2201398
C0342273	MedGen UID:449530	Transitory neonatal diabetes mellitus	http://www.ncbi.nlm.nih.gov/medgen/449530	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020525	http://purl.obolibrary.org/obo/MONDO_0020525	NANDO:2201434
C0036420	MedGen UID:48586	Localized scleroderma	http://www.ncbi.nlm.nih.gov/medgen/48586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019562	http://purl.obolibrary.org/obo/MONDO_0019562	NANDO:2201420
C0036420	MedGen UID:48586	Localized scleroderma	http://www.ncbi.nlm.nih.gov/medgen/48586	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0019562	http://purl.obolibrary.org/obo/MONDO_0019562	NANDO:2201421
C0271693	MedGen UID:543499	Acquired generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/543499	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019193	http://purl.obolibrary.org/obo/MONDO_0019193	NANDO:2201445
C0271694	MedGen UID:124408	Familial partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/124408	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020088	http://purl.obolibrary.org/obo/MONDO_0020088	NANDO:2201446
C1868139	MedGen UID:358137	Tubulointerstitial kidney disease, autosomal dominant, 2	http://www.ncbi.nlm.nih.gov/medgen/358137	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020726	http://purl.obolibrary.org/obo/MONDO_0020726	NANDO:2201388
C4316789	MedGen UID:1386287	Partial lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1386287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0027767	http://purl.obolibrary.org/obo/MONDO_0027767	NANDO:2201443
C4317112	MedGen UID:1369615	Generalized lipodystrophy	http://www.ncbi.nlm.nih.gov/medgen/1369615	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0027766	http://purl.obolibrary.org/obo/MONDO_0027766	NANDO:2201442
C4518639	MedGen UID:1381392	Epilepsy of infancy with migrating focal seizures	http://www.ncbi.nlm.nih.gov/medgen/1381392	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0100025	http://purl.obolibrary.org/obo/MONDO_0100025	NANDO:2201408
C5445164	MedGen UID:1778573	Juvenile polyposis of infancy	http://www.ncbi.nlm.nih.gov/medgen/1778573	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019190	http://purl.obolibrary.org/obo/MONDO_0019190	NANDO:2201458
C0263409	MedGen UID:75518	Linear scleroderma	http://www.ncbi.nlm.nih.gov/medgen/75518	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0043294	http://purl.obolibrary.org/obo/MONDO_0043294	NANDO:2201422
CN293409	MedGen UID:976783	Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	http://www.ncbi.nlm.nih.gov/medgen/976783	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020741	http://purl.obolibrary.org/obo/MONDO_0020741	NANDO:2201410
C1563715	MedGen UID:327586	Andersen Tawil syndrome	http://www.ncbi.nlm.nih.gov/medgen/327586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	NANDO:2201516
C1563715	MedGen UID:327586	Andersen Tawil syndrome	http://www.ncbi.nlm.nih.gov/medgen/327586	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008222	http://purl.obolibrary.org/obo/MONDO_0008222	NANDO:1201117
C1846386	MedGen UID:375876	Isolated focal cortical dysplasia type IIa	http://www.ncbi.nlm.nih.gov/medgen/375876	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017101	http://purl.obolibrary.org/obo/MONDO_0017101	NANDO:2201502
C1849453	MedGen UID:336602	Rapadilino syndrome	http://www.ncbi.nlm.nih.gov/medgen/336602	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009955	http://purl.obolibrary.org/obo/MONDO_0009955	NANDO:2201531
C0221055	MedGen UID:113142	Paramyotonia congenita of Von Eulenburg	http://www.ncbi.nlm.nih.gov/medgen/113142	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008195	http://purl.obolibrary.org/obo/MONDO_0008195	NANDO:2201512
C2931826	MedGen UID:444151	Potassium-aggravated myotonia	http://www.ncbi.nlm.nih.gov/medgen/444151	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018959	http://purl.obolibrary.org/obo/MONDO_0018959	NANDO:2201513
C2936781	MedGen UID:422446	Congenital myotonia, autosomal dominant form	http://www.ncbi.nlm.nih.gov/medgen/422446	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008055	http://purl.obolibrary.org/obo/MONDO_0008055	NANDO:2201510
C5203410	MedGen UID:1684753	Rothmund-Thomson syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/1684753	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016369	http://purl.obolibrary.org/obo/MONDO_0016369	NANDO:2201529
C5231433	MedGen UID:1684764	Rothmund-Thomson syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/1684764	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016368	http://purl.obolibrary.org/obo/MONDO_0016368	NANDO:2201528
C5779872	MedGen UID:1830421	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	http://www.ncbi.nlm.nih.gov/medgen/1830421	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016779	http://purl.obolibrary.org/obo/MONDO_0016779	NANDO:2201523
C0028860	MedGen UID:18145	Lowe syndrome	http://www.ncbi.nlm.nih.gov/medgen/18145	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010645	http://purl.obolibrary.org/obo/MONDO_0010645	NANDO:1201116
C0030443	MedGen UID:18291	Familial periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/18291	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0000995	http://purl.obolibrary.org/obo/MONDO_0000995	NANDO:2100307
C3280976	MedGen UID:482606	Thrombomodulin-related bleeding disorder	http://www.ncbi.nlm.nih.gov/medgen/482606	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0013775	http://purl.obolibrary.org/obo/MONDO_0013775	NANDO:1201115
C4707795	MedGen UID:1645432	Isolated focal cortical dysplasia	http://www.ncbi.nlm.nih.gov/medgen/1645432	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019009	http://purl.obolibrary.org/obo/MONDO_0019009	NANDO:2201498
C4749399	MedGen UID:1649806	Secondary syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/1649806	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0020509	http://purl.obolibrary.org/obo/MONDO_0020509	NANDO:2201533
C3887523	MedGen UID:854382	Very long chain acyl-CoA dehydrogenase deficiency	http://www.ncbi.nlm.nih.gov/medgen/854382	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008723	http://purl.obolibrary.org/obo/MONDO_0008723	NANDO:1201109
C4014419	MedGen UID:862856	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	http://www.ncbi.nlm.nih.gov/medgen/862856	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014358	http://purl.obolibrary.org/obo/MONDO_0014358	NANDO:2201524
C4014722	MedGen UID:863159	STING-associated vasculopathy with onset in infancy	http://www.ncbi.nlm.nih.gov/medgen/863159	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	NANDO:1201110
C4014722	MedGen UID:863159	STING-associated vasculopathy with onset in infancy	http://www.ncbi.nlm.nih.gov/medgen/863159	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014405	http://purl.obolibrary.org/obo/MONDO_0014405	NANDO:2201487
C5575066	MedGen UID:1807366	Schaaf-Yang syndrome	http://www.ncbi.nlm.nih.gov/medgen/1807366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014243	http://purl.obolibrary.org/obo/MONDO_0014243	NANDO:2201525
C0032339	MedGen UID:10819	Rothmund-Thomson syndrome	http://www.ncbi.nlm.nih.gov/medgen/10819	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010002	http://purl.obolibrary.org/obo/MONDO_0010002	NANDO:2201527
C0039144	MedGen UID:21449	Syringomyelia	http://www.ncbi.nlm.nih.gov/medgen/21449	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017987	http://purl.obolibrary.org/obo/MONDO_0017987	NANDO:2201488
C0040588	MedGen UID:21228	Tracheoesophageal fistula	http://www.ncbi.nlm.nih.gov/medgen/21228	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008586	http://purl.obolibrary.org/obo/MONDO_0008586	NANDO:2201517
C1868512	MedGen UID:356995	Adult-onset autosomal dominant demyelinating leukodystrophy	http://www.ncbi.nlm.nih.gov/medgen/356995	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008215	http://purl.obolibrary.org/obo/MONDO_0008215	NANDO:1201107
C2750067	MedGen UID:412870	Congenital plasminogen activator inhibitor type 1 deficiency	http://www.ncbi.nlm.nih.gov/medgen/412870	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0013227	http://purl.obolibrary.org/obo/MONDO_0013227	NANDO:1201113
C2752081	MedGen UID:414178	Alpha-2-plasmin inhibitor deficiency	http://www.ncbi.nlm.nih.gov/medgen/414178	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009883	http://purl.obolibrary.org/obo/MONDO_0009883	NANDO:1201114
C0238357	MedGen UID:68665	Familial hyperkalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/68665	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008224	http://purl.obolibrary.org/obo/MONDO_0008224	NANDO:2201514
C0238358	MedGen UID:116058	Hypokalemic periodic paralysis	http://www.ncbi.nlm.nih.gov/medgen/116058	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008223	http://purl.obolibrary.org/obo/MONDO_0008223	NANDO:2201515
C0242387	MedGen UID:66078	Treacher Collins syndrome	http://www.ncbi.nlm.nih.gov/medgen/66078	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002457	http://purl.obolibrary.org/obo/MONDO_0002457	NANDO:2201526
C0265308	MedGen UID:120532	Baller-Gerold syndrome	http://www.ncbi.nlm.nih.gov/medgen/120532	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009039	http://purl.obolibrary.org/obo/MONDO_0009039	NANDO:2201530
C0751360	MedGen UID:155852	Congenital myotonia, autosomal recessive form	http://www.ncbi.nlm.nih.gov/medgen/155852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009715	http://purl.obolibrary.org/obo/MONDO_0009715	NANDO:2201511
C5679765	MedGen UID:1842666	Isolated focal cortical dysplasia type Ib	http://www.ncbi.nlm.nih.gov/medgen/1842666	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017097	http://purl.obolibrary.org/obo/MONDO_0017097	NANDO:2201500
C5679767	MedGen UID:1843115	Isolated focal cortical dysplasia type Ia	http://www.ncbi.nlm.nih.gov/medgen/1843115	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017096	http://purl.obolibrary.org/obo/MONDO_0017096	NANDO:2201499
C5679768	MedGen UID:1842232	Isolated focal cortical dysplasia type IIb	http://www.ncbi.nlm.nih.gov/medgen/1842232	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0017102	http://purl.obolibrary.org/obo/MONDO_0017102	NANDO:2201503
CN311573	MedGen UID:992104	Thomsen and Becker disease	http://www.ncbi.nlm.nih.gov/medgen/992104	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009710	http://purl.obolibrary.org/obo/MONDO_0009710	NANDO:2201509
CN924912	MedGen UID:1564287	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	http://www.ncbi.nlm.nih.gov/medgen/1564287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014512	http://purl.obolibrary.org/obo/MONDO_0014512	NANDO:1201108
C1847640	MedGen UID:338281	Kufor-Rakeb syndrome	http://www.ncbi.nlm.nih.gov/medgen/338281	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011706	http://purl.obolibrary.org/obo/MONDO_0011706	NANDO:1201153
C5204115	MedGen UID:1684787	AH amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1684787	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018613	http://purl.obolibrary.org/obo/MONDO_0018613	NANDO:1201122
C0024796	MedGen UID:44287	Marfan syndrome	http://www.ncbi.nlm.nih.gov/medgen/44287	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0007947	http://purl.obolibrary.org/obo/MONDO_0007947	NANDO:1201158
C0028968	MedGen UID:10435	Olivopontocerebellar atrophy	http://www.ncbi.nlm.nih.gov/medgen/10435	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0002017	http://purl.obolibrary.org/obo/MONDO_0002017	NANDO:1201119
C0268381	MedGen UID:75674	AL amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/75674	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019438	http://purl.obolibrary.org/obo/MONDO_0019438	NANDO:1201121
C0270724	MedGen UID:82852	Infantile neuroaxonal dystrophy	http://www.ncbi.nlm.nih.gov/medgen/82852	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0024457	http://purl.obolibrary.org/obo/MONDO_0024457	NANDO:1201155
C0270733	MedGen UID:124366	Striatonigral degeneration	http://www.ncbi.nlm.nih.gov/medgen/124366	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0003122	http://purl.obolibrary.org/obo/MONDO_0003122	NANDO:1201118
C0393571	MedGen UID:98276	Multiple system atrophy	http://www.ncbi.nlm.nih.gov/medgen/98276	http://www.w3.org/2004/02/skos/core#closeMatch	MONDO:0007803	http://purl.obolibrary.org/obo/MONDO_0007803	NANDO:1201120
C1857747	MedGen UID:346658	Neurodegeneration with brain iron accumulation 2B	http://www.ncbi.nlm.nih.gov/medgen/346658	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0012444	http://purl.obolibrary.org/obo/MONDO_0012444	NANDO:1201156
C3550973	MedGen UID:763887	Neurodegeneration with brain iron accumulation 5	http://www.ncbi.nlm.nih.gov/medgen/763887	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010476	http://purl.obolibrary.org/obo/MONDO_0010476	NANDO:1201150
C3554374	MedGen UID:767288	Dystonia 24	http://www.ncbi.nlm.nih.gov/medgen/767288	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014019	http://purl.obolibrary.org/obo/MONDO_0014019	NANDO:1201143
C3694531	MedGen UID:854172	Glycogen storage disease IXa1	http://www.ncbi.nlm.nih.gov/medgen/854172	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0010598	http://purl.obolibrary.org/obo/MONDO_0010598	NANDO:1201175
C3826988	MedGen UID:819736	Juvenile polymyositis	http://www.ncbi.nlm.nih.gov/medgen/819736	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019734	http://purl.obolibrary.org/obo/MONDO_0019734	NANDO:1201133
C4225336	MedGen UID:907580	Dystonia 27	http://www.ncbi.nlm.nih.gov/medgen/907580	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014627	http://purl.obolibrary.org/obo/MONDO_0014627	NANDO:1201146
C4225341	MedGen UID:904244	Myoclonic dystonia 26	http://www.ncbi.nlm.nih.gov/medgen/904244	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014620	http://purl.obolibrary.org/obo/MONDO_0014620	NANDO:1201145
C0342286	MedGen UID:83337	Woodhouse-Sakati syndrome	http://www.ncbi.nlm.nih.gov/medgen/83337	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0009419	http://purl.obolibrary.org/obo/MONDO_0009419	NANDO:1201154
C0751037	MedGen UID:196713	Cockayne syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/196713	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008998	http://purl.obolibrary.org/obo/MONDO_0008998	NANDO:1201165
C2697932	MedGen UID:395827	Loeys-Dietz syndrome	http://www.ncbi.nlm.nih.gov/medgen/395827	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018954	http://purl.obolibrary.org/obo/MONDO_0018954	NANDO:1201159
C4304411	MedGen UID:930080	Xeroderma pigmentosum-Cockayne syndrome complex	http://www.ncbi.nlm.nih.gov/medgen/930080	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016354	http://purl.obolibrary.org/obo/MONDO_0016354	NANDO:1201166
C4304670	MedGen UID:930339	Dystonia 25	http://www.ncbi.nlm.nih.gov/medgen/930339	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014033	http://purl.obolibrary.org/obo/MONDO_0014033	NANDO:1201144
C4310633	MedGen UID:934600	Dystonia 28, childhood-onset	http://www.ncbi.nlm.nih.gov/medgen/934600	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015004	http://purl.obolibrary.org/obo/MONDO_0015004	NANDO:1201147
C4310634	MedGen UID:934601	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	http://www.ncbi.nlm.nih.gov/medgen/934601	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0015003	http://purl.obolibrary.org/obo/MONDO_0015003	NANDO:1201148
C4517377	MedGen UID:1387791	Neurodegeneration with brain iron accumulation 6	http://www.ncbi.nlm.nih.gov/medgen/1387791	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0014290	http://purl.obolibrary.org/obo/MONDO_0014290	NANDO:1201151
C5438812	MedGen UID:1726699	Pfeiffer syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/1726699	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019659	http://purl.obolibrary.org/obo/MONDO_0019659	NANDO:1201160
C5438849	MedGen UID:1761826	Pfeiffer syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/1761826	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019660	http://purl.obolibrary.org/obo/MONDO_0019660	NANDO:1201161
C5438850	MedGen UID:1748161	Pfeiffer syndrome type 3	http://www.ncbi.nlm.nih.gov/medgen/1748161	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019661	http://purl.obolibrary.org/obo/MONDO_0019661	NANDO:1201162
C5543312	MedGen UID:1785079	Dystonia 30	http://www.ncbi.nlm.nih.gov/medgen/1785079	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0025691	http://purl.obolibrary.org/obo/MONDO_0025691	NANDO:1201149
C0263666	MedGen UID:120486	Childhood type dermatomyositis	http://www.ncbi.nlm.nih.gov/medgen/120486	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0008054	http://purl.obolibrary.org/obo/MONDO_0008054	NANDO:1201132
C0751038	MedGen UID:155487	Cockayne syndrome type 2	http://www.ncbi.nlm.nih.gov/medgen/155487	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019570	http://purl.obolibrary.org/obo/MONDO_0019570	NANDO:1201164
C0751039	MedGen UID:155488	Cockayne syndrome type 1	http://www.ncbi.nlm.nih.gov/medgen/155488	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0019569	http://purl.obolibrary.org/obo/MONDO_0019569	NANDO:1201163
C0878682	MedGen UID:168057	Deficiency of ferroxidase	http://www.ncbi.nlm.nih.gov/medgen/168057	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0011426	http://purl.obolibrary.org/obo/MONDO_0011426	NANDO:1201152
C5679845	MedGen UID:1842484	Apolipoprotein A-II amyloidosis	http://www.ncbi.nlm.nih.gov/medgen/1842484	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0016533	http://purl.obolibrary.org/obo/MONDO_0016533	NANDO:1201125
C5680100	MedGen UID:1826070	MYO5B-related progressive familial intrahepatic cholestasis	http://www.ncbi.nlm.nih.gov/medgen/1826070	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0018804	http://purl.obolibrary.org/obo/MONDO_0018804	NANDO:1201174
CN305473	MedGen UID:987242	Peroxisomal single enzyme/protein defect	http://www.ncbi.nlm.nih.gov/medgen/987242	http://www.w3.org/2004/02/skos/core#exactMatch	MONDO:0100257	http://purl.obolibrary.org/obo/MONDO_0100257	NANDO:1201169