About: molybdenum cofactor deficiency type C

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About: molybdenum cofactor deficiency type C Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23

Attributes	Values
rdf:type	Item
description	molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23 (en)
exact match	wds:Q50349834-6D5609BE-6E3A-4128-8D9E-E71B69F4A26E wds:Q50349834-927C61BE-0A6A-4B07-B484-612811F187D5 wds:Q50349834-FC46F3CD-7D7E-4CCE-80F6-5D5D9EE733B3
exact match	http://purl.obolibrary.org/obo/DOID_0111166 http://identifiers.org/doid/DOID:0111166 http://www.orpha.net/ORDO/Orphanet_308400
Disease Ontology ID	wds:Q50349834-D6A25488-768B-4B0B-AB17-158BF551CA2C
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111166
Disease Ontology ID	DOID:0111166
rdfs:label	molybdenum cofactor deficiency type C (en)
skos:prefLabel	molybdenum cofactor deficiency type C (en)
name	molybdenum cofactor deficiency type C (en)
instance of	wds:Q50349834-D4F1AA35-C488-4077-A6EA-B76A80B58510 wds:Q50349834-E5FE51FA-5833-446D-9400-838DE7AF9EE8
instance of	class of disease rare disease
subclass of	wds:Q50349834-1315F0FB-7F66-4265-AAFC-02DBB0D81653 wds:Q50349834-78EBF9A2-4AF1-4302-B418-B318DF6DA4FA
subclass of	genetic disease molybdenum cofactor deficiency
UniProt disease ID	wds:Q50349834-1c339dd5-404b-412f-6fba-6bc06613703d
Orphanet ID	wds:Q50349834-0A8F7A79-69D2-43AB-9929-7585BC161D50
genetic association	wds:Q50349834-D8E5AE8A-C929-4325-9A2A-FF8D0588FEC8
OMIM ID	wds:Q50349834-75C251F3-4BAD-478B-91F2-982DB84106C4
UniProt disease ID	DI-01991
Orphanet ID	308400
genetic association	GPHN
OMIM ID	615501
skos:altLabel	MOCODC (en) combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C (en) MOCOD type C (en) molybdenum cofactor deficiency complementation group C (en)
UMLS CUI	wds:Q50349834-89EB4439-56C9-47C8-BE1F-1D443637B1F1
MeSH descriptor ID	wds:Q50349834-E028886A-17AA-40AD-910D-A8087342B406
on focus list of Wikimedia project	wds:Q50349834-4578C188-46E4-42CE-8F52-8CEFDD3377F2
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C565374
UMLS CUI	C1854990
MeSH descriptor ID	C565374
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q50349834
is medical condition of	Molybdenum cofactor (Moco) biosynthesis
is medical condition of	wds:Q61996221-A32F3EC5-39F5-4BE5-BF6C-2F1D2BB3B3F3

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