Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	Cystathionine beta-synthase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012430
cui	C0751202
Manifestation of	http://purl.bioontology.org/ontology/OMIM/236200
notation	MTHU012430
prefLabel	Cystathionine beta-synthase deficiency
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/24308003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24308003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4110	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/C3043	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006712	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D006712	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10071093	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071093	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071093	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24308003	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-B4110	SNMI	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071093	MEDDRA	LOOM
http://identifiers.org/omim/236200	REXO	LOOM
http://identifiers.org/omim/236200	GEXO	LOOM
http://identifiers.org/omim/236200	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_236200	CCO	LOOM