About: galactose epimerase deficiency

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About: galactose epimerase deficiency Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
owl:sameAs	galactose epimerase deficiency
description	human disease (en) Krankheit (de) malattia (it) մարդու հիվանդություն (hy) حالة طبية (ar) хвороба людини (uk)
exact match	wds:Q17153517-5065E87B-C6E5-4D8E-B5C4-77A8BD3682CE wds:Q17153517-770532B7-AE4B-4546-BF29-46F75A384774
exact match	http://identifiers.org/doid/DOID:0111458 http://purl.obolibrary.org/obo/DOID_0111458
Mondo ID	wds:Q17153517-A3EB361B-C38B-4DF1-A402-3AA0240DC3C0
DiseasesDB	wds:Q17153517-EC1FEFCB-58B9-4B1B-85F3-BA12EC507A1E
Disease Ontology ID	wds:Q17153517-97A9BA9B-36B9-45C8-92AB-62DB623DC87C
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009257
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111458
Mondo ID	MONDO_0009257
DiseasesDB	29842
Disease Ontology ID	DOID:0111458
rdfs:label	déficit en galactose épimérase (fr) galactose epimerase deficiency (en) نقص الجالاكتوز إبيميراس (ar)
skos:prefLabel	déficit en galactose épimérase (fr) galactose epimerase deficiency (en) نقص الجالاكتوز إبيميراس (ar)
name	déficit en galactose épimérase (fr) galactose epimerase deficiency (en) نقص الجالاكتوز إبيميراس (ar)
instance of	wds:Q17153517-B407336A-6CDA-4437-8FC5-058F3D90A13F
instance of	class of disease
subclass of	wds:Q17153517-A0D5D925-F7B8-4BE0-B166-CFB7F3FD0E66 wds:Q17153517-bf09bc10-4636-0101-cfc9-3ea4fba27cd7
subclass of	galactosemia autosomal recessive disease
KEGG ID	wds:Q17153517-A483100B-C3BA-4A14-A4DC-EB581502512C
KEGG ID	http://www.kegg.jp/entry/H02010
KEGG ID	H02010
UniProt disease ID	wds:Q17153517-f7445ffa-43c0-3141-b079-244e9b3ee927
Orphanet ID	wds:Q17153517-04499aa9-4963-08cc-1a2e-5b5466696087
GARD rare disease ID	wds:Q17153517-66C48245-0D56-458D-AA72-7E34906C34C6
OMIM ID	wds:Q17153517-58244513-4978-23a6-f2af-dc190fe2a08b
UniProt disease ID	DI-01534
Orphanet ID	79238
GARD rare disease ID	5392
OMIM ID	230350
skos:altLabel	Galactosémie type 3 (fr) Type III galactosemia (en) UDPglucose 4-epimerase deficiency disease (en) Uridine diphosphate galactose-4-epimerase deficiency (en) GALAC3 (en)
UMLS CUI	wds:Q17153517-0b9b2be6-431a-bd51-1237-bc283ab5f622
Microsoft Academic ID	wds:Q17153517-10AC906F-ADF5-42CF-8ADF-9D53BE95F7F1
ICD-11 (foundation)	wds:Q17153517-bf20ced1-4d4f-bf4e-a3c7-0fbbee3a5b67
Microsoft Academic ID	https://makg.org/entity/2776715090
UMLS CUI	C0751161
Microsoft Academic ID	2776715090
ICD-11 (foundation)	621563399
WikiProjectMed ID	wds:Q17153517-9467C3F8-1C6E-41BA-9392-B192305B1B00
WikiProjectMed ID	Galactose epimerase deficiency
is owl:sameAs of	galactose epimerase deficiency
is about of	galactose epimerase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q17153517 Galactose epimerase deficiency https://ar.wikipedia.org/wiki/%D9%86%D9%82%D8%B5_%D8%A7%D9%84%D8%AC%D8%A7%D9%84%D8%A7%D9%83%D8%AA%D9%88%D8%B2_%D8%A5%D8%A8%D9%8A%D9%85%D9%8A%D8%B1%D8%A7%D8%B3
is cites work of	Galactokinase deficiency presenting as pseudotumor cerebri
is cites work of	wds:Q39918751-EFB19F8D-24FE-4F18-8543-723ACC0B4A0B
is main subject of	Generalised uridine diphosphate galactose-4-epimerase deficiency Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency Developmental defects in a Caenorhabditis elegans model for type III galactosemia Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia Galactose increase in an infant whose mother is heterozygous for peripheral uridine diphosphate galactose-4-epimerase deficiency The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding. A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia Galactose Epimerase Deficiency: Expanding the Phenotype.
is main subject of	wds:Q24675951-1E4668DD-5AA6-43B7-9826-55FF653F3DE1 wds:Q67927427-BDE71144-ADE8-4BE7-9D34-F2806DB2EC84 wds:Q34636240-F81E74BC-21EB-4CD6-B5BB-E1CB582EF8FB wds:Q36162284-BB6D7634-92CF-49F4-A7C8-61E0D4B285D8 wds:Q54283294-54ECD063-D32E-443D-8B75-6176D197CA5A wds:Q70438269-CA33B597-7D56-46CE-9442-95A0D1FB7A9B wds:Q44641516-5A5FC9A3-A653-49F0-AD5F-B6A43F12E7C8 wds:Q35115419-1FBEEF21-0B67-4499-8023-B149C396B7F0 wds:Q69666231-170AA97E-56EF-4A33-85F8-26E5F4B09A8F wds:Q47150454-A443070F-FE02-4959-A786-03A06B8CC413 wds:Q70819184-DBEC6F36-17B3-4527-B3EF-ED412F2EE5AF

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