Computer Retrieval of Information on Scientific Projects Thesaurus

Last uploaded: August 28, 2024

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Preferred Name	genetic disorder
Synonyms	subacute necrotizing encephalomyelopathy Alstrom syndrome Clouston's syndrome Laurence Moon Biedl syndrome hereditary disorder hereditary cerebellar degeneration Multiple Lentigines Leigh disease familial Mediterranean fever malformation Bardet Biedel syndrome corneal dystrophy LEOPARD syndrome Rabson Mendenhall syndrome deformity Joubert syndrome familial disorder
Definitions	general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.
ID	http://purl.bioontology.org/ontology/CSP/1254-7727
altLabel	subacute necrotizing encephalomyelopathy Alstrom syndrome Clouston's syndrome Laurence Moon Biedl syndrome hereditary disorder hereditary cerebellar degeneration Multiple Lentigines Leigh disease familial Mediterranean fever malformation Bardet Biedel syndrome corneal dystrophy LEOPARD syndrome Rabson Mendenhall syndrome deformity Joubert syndrome familial disorder
cui	C0010036 C0268425 C0270752 C0271695 C0031069 C0023138 C0431399 C0023264 C0752166 C0175704 C0000768 C0277558 C0162361 C1328931 C0019247
definition	general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.
DID	1254-7727
Inverse of RB	http://purl.bioontology.org/ontology/CSP/0944-4756
Inverse of RN	http://purl.bioontology.org/ontology/CSP/0427-1524 http://purl.bioontology.org/ontology/CSP/1849-0285 http://purl.bioontology.org/ontology/CSP/0438-3499 http://purl.bioontology.org/ontology/CSP/2012-7338 http://purl.bioontology.org/ontology/CSP/1849-9804 http://purl.bioontology.org/ontology/CSP/0438-9190 http://purl.bioontology.org/ontology/CSP/0726-9169 http://purl.bioontology.org/ontology/CSP/1114-9526 http://purl.bioontology.org/ontology/CSP/2716-6258 http://purl.bioontology.org/ontology/CSP/5000-0055 http://purl.bioontology.org/ontology/CSP/0485-3493 http://purl.bioontology.org/ontology/CSP/0438-2686 http://purl.bioontology.org/ontology/CSP/1849-7175 http://purl.bioontology.org/ontology/CSP/1849-6662 http://purl.bioontology.org/ontology/CSP/1849-7560 http://purl.bioontology.org/ontology/CSP/0725-5371 http://purl.bioontology.org/ontology/CSP/0427-1870 http://purl.bioontology.org/ontology/CSP/1418-5657 http://purl.bioontology.org/ontology/CSP/0438-6751 http://purl.bioontology.org/ontology/CSP/5002-0020 http://purl.bioontology.org/ontology/CSP/2009-6300 http://purl.bioontology.org/ontology/CSP/0485-2495 http://purl.bioontology.org/ontology/CSP/1849-3115 http://purl.bioontology.org/ontology/CSP/1849-0228 http://purl.bioontology.org/ontology/CSP/1849-8016 http://purl.bioontology.org/ontology/CSP/1849-0057 http://purl.bioontology.org/ontology/CSP/4006-0098 http://purl.bioontology.org/ontology/CSP/5001-0009 http://purl.bioontology.org/ontology/CSP/1849-6776 http://purl.bioontology.org/ontology/CSP/1849-9833 http://purl.bioontology.org/ontology/CSP/2018-3452 http://purl.bioontology.org/ontology/CSP/1849-7617 http://purl.bioontology.org/ontology/CSP/2586-8897 http://purl.bioontology.org/ontology/CSP/4008-0043 http://purl.bioontology.org/ontology/CSP/4001-0143 http://purl.bioontology.org/ontology/CSP/0725-9662 http://purl.bioontology.org/ontology/CSP/0727-2535 http://purl.bioontology.org/ontology/CSP/1254-7954 http://purl.bioontology.org/ontology/CSP/1849-1804 http://purl.bioontology.org/ontology/CSP/0725-1693 http://purl.bioontology.org/ontology/CSP/1849-5992 http://purl.bioontology.org/ontology/CSP/0726-9627 http://purl.bioontology.org/ontology/CSP/4001-0114 http://purl.bioontology.org/ontology/CSP/1849-0171 http://purl.bioontology.org/ontology/CSP/0726-9470 http://purl.bioontology.org/ontology/CSP/0438-7564 http://purl.bioontology.org/ontology/CSP/2042-7013 http://purl.bioontology.org/ontology/CSP/5005-0002 http://purl.bioontology.org/ontology/CSP/4001-0003 http://purl.bioontology.org/ontology/CSP/4007-0003 http://purl.bioontology.org/ontology/CSP/2057-3283 http://purl.bioontology.org/ontology/CSP/2928-6976 http://purl.bioontology.org/ontology/CSP/4006-0058 http://purl.bioontology.org/ontology/CSP/1114-8721
Inverse of RO	http://purl.bioontology.org/ontology/CSP/0427-0659 http://purl.bioontology.org/ontology/CSP/0427-0832 http://purl.bioontology.org/ontology/CSP/2715-1220 http://purl.bioontology.org/ontology/CSP/0467-3154 http://purl.bioontology.org/ontology/CSP/1849-8073 http://purl.bioontology.org/ontology/CSP/4001-0050 http://purl.bioontology.org/ontology/CSP/0723-1051 http://purl.bioontology.org/ontology/CSP/2716-6089 http://purl.bioontology.org/ontology/CSP/4008-0105 http://purl.bioontology.org/ontology/CSP/0429-1873 http://purl.bioontology.org/ontology/CSP/2871-4352 http://purl.bioontology.org/ontology/CSP/1114-9741
notation	1254-7727
prefLabel	genetic disorder
tui	T047 T019
subClassOf	http://purl.bioontology.org/ontology/CSP/0944-4756

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/5587004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D056769	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/DA-22027	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D056731	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/249100	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/5619004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/716997004	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/590060	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056715	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/X50Js	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111941005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/129500	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU030713	OMIM	CUI
http://purl.bioontology.org/ontology/LNC/LP62869-0	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5587004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU015719	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10011005	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/X00bF	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10011005	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/DA-75401	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10011005	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10068783	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63702009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10068814	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/606844	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/203800	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10068814	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10068814	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/Xa0Zf	RCD	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181100	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRGER/10068783	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D056769	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10068783	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-96300	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/63702009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/37650008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/37650008	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/G11.9	ICD10CM	CUI
http://purl.bioontology.org/ontology/OMIM/147670	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088742	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40JX	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10088742	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/DB-61780	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10088742	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/262190	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/33559001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D056731	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/33559001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/12579009	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/M04.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10016207	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010505	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002367	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12579009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10016207	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10016211	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10016211	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD9CM/277.31	ICD9CM	CUI
http://purl.bioontology.org/ontology/RCD/C3731	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-94450	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10016211	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/608107	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/D010505	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10016207	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056710	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D007849	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/603197	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/232059000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10056710	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007849	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X00e1	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5619004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.84	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/232059000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056710	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001790	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/245800	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/PKy1.	RCD	CUI
http://purl.bioontology.org/ontology/RCD/X77rY	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10078574	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10078574	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253175003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/716997004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10078574	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/253175003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C536293	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/213300	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/D007888	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU039986	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007888	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/590095	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/DA-20161	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10062950	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10062950	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10062950	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/590105	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/29570005	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/256000	OMIM	CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.82	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29570005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001801	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/F10y1	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D020788	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/5619004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01205	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10056715	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020788	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056715	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10048680	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004188	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5619004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10048680	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.83	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10048680	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/PKy1.	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/111306001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10062901	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10057210	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10062901	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10062901	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/151100	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10057210	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111306001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010971	NDFRT	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01048	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D044542	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10057210	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D044542	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10048305	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10060920	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10010316	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD9CM/759.9	ICD9CM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000264	NDFRT	CUI
http://purl.bioontology.org/ontology/ICD10/Q89.9	ICD10	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010316	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010356	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10060919	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10010356	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10002617	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10010357	MDRGER	CUI
http://purl.bioontology.org/ontology/WHOFRE/1256	WHOFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10048305	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060920	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10012563	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010356	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0000768	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q89.9	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/276655000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010316	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D000013	MESH	CUI
http://purl.bioontology.org/ontology/RCD/P....	RCD	CUI
http://purl.bioontology.org/ontology/WHO/1256	WHO-ART	CUI
http://purl.bioontology.org/ontology/MEDDRA/10048305	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060920	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICPC2P/A90011	ICPC2P	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060919	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10002617	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/276654001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/276655000	SCTSPA	CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN	COSTART	CUI
http://purl.bioontology.org/ontology/CST/TERAT	COSTART	CUI
http://purl.bioontology.org/ontology/MDRGER/10012563	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD9CM/740-759.99	ICD9CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10002617	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000013	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060919	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010357	MDRFRE	CUI
http://purl.bioontology.org/ontology/CST/MATFETDEV	COSTART	CUI
http://purl.bioontology.org/ontology/SNMI/M-20000	SNMI	CUI
http://purl.bioontology.org/ontology/CST/MATFETBIRTH	COSTART	CUI
http://purl.bioontology.org/ontology/LNC/LA20354-9	LOINC	CUI
http://purl.bioontology.org/ontology/RCD/Xa0AO	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10012563	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010357	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/276654001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/Xa0AN	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/111941005	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/DF-00190	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004476	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D004476	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10073864	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10073859	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10073859	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01104	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10073864	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/54209007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54209007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X50Ha	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10073864	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/604418	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10073859	MEDDRA	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10061205	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10019873	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/782964007	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32895009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/782964007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000256156	PDQ	CUI
http://purl.bioontology.org/ontology/MDRFRE/10019873	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/Xa4hE	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10019873	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/32895009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MDRFRE/10061205	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10061205	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D030342	MESH	CUI
http://purl.bioontology.org/ontology/LNC/MTHU025721	LOINC	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030342	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DF-00180	SNMI	CUI
http://purl.obolibrary.org/obo/NCIT_C3101	BERO	LOOM
http://purl.obolibrary.org/obo/NCIT_C3101	GSSO	LOOM
http://www.ebi.ac.uk/efo/EFO_0000508	CCONT	LOOM
http://www.ebi.ac.uk/efo/EFO_0000508	EFO	LOOM
http://www.ebi.ac.uk/efo/EFO_0000508	EFO	LOOM
http://www.projecthalo.com/aura#Genetic-Disorder	AURA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Genetic_Disorder	OPE	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder	PEDTERM	LOOM
http://purl.obolibrary.org/obo/HIO_0000375	HIO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101	NCIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050325	NATPRO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	HTN	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	MFOMD	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	OHD	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	NEIO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	OCD	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	CVDO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	NDDO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	PNADO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	VDOT	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	BDO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	DDIEM	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	SCDO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	SDO	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	ONSTR	LOOM
http://purl.obolibrary.org/obo/OGMS_0000047	OGMS	LOOM
http://purl.obolibrary.org/obo/DOID_0050325	CLO	LOOM