Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Beta-galactosidase-1 deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012898
cui	C0085131
Manifestation of	http://purl.bioontology.org/ontology/OMIM/230500
notation	MTHU012898
prefLabel	Beta-galactosidase-1 deficiency
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000176

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10083308	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238025006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10083308	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D016537	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-76010	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003432	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016537	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/238025006	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X40V7	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083308	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.19	ICD10CM	CUI
http://purl.bioontology.org/ontology/CSP/1849-8633	CRISP	CUI