Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	Hexosaminidase A deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU009172
cui	C0039373
Manifestation of	http://purl.bioontology.org/ontology/OMIM/272800
notation	MTHU009172
prefLabel	Hexosaminidase A 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/ICD10CM/E75.02	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10043147	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/1849-8690	CRISP	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002901	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRGER/10043147	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D013661	MESH	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X40V1	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10043147	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111385000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40V1	RCD	LOOM