Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Galactose-1-phosphate uridyltransferase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012910
cui	C0268151
Manifestation of	http://purl.bioontology.org/ontology/OMIM/230400
notation	MTHU012910
prefLabel	Galactose-1-phosphate uridyltransferase 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/MSHFRE/D005693	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/LNC/LA21165-8	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/124354006	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/398664009	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP56781-5	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398664009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/1849-3608	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D6-50510	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124354006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/C3110	RCD	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021611	LOINC	CUI
http://nanbyodata.jp/ontology/NANDO_2200532	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200851	NANDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/C311000	RCTV2	LOOM
http://purl.bioontology.org/ontology/RCD/C3110	RCD	LOOM