About: AICA-ribosiduria

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About: AICA-ribosiduria Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
exact match	wds:Q55783600-43F29969-D2B4-43D9-91C0-1FEC43553BAA
exact match	http://www.orpha.net/ORDO/Orphanet_250977
Mondo ID	wds:Q55783600-193A5DA6-4E2B-479D-9004-1ECB3C2802BA
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012099
Mondo ID	MONDO_0012099
rdfs:label	AICA-ribosiduria (en) AICA-ribosidurie (fr)
skos:prefLabel	AICA-ribosiduria (en) AICA-ribosidurie (fr)
name	AICA-ribosiduria (en) AICA-ribosidurie (fr)
instance of	wds:Q55783600-B2009644-1B0B-4836-BDAC-22A35E5D2907 wds:Q55783600-CC772B6C-C088-42D1-9104-4492FBF2E368 wds:Q55783600-F060216B-7204-429A-8F01-D98657F3A352
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55783600-0387279D-42EF-4933-B506-44FF2355151E wds:Q55783600-4238BAD0-ED07-42A2-A3D5-BD30D3161CE3 wds:Q55783600-79844882-D0F6-484C-A00A-DC60285D4DD5 wds:Q55783600-A323A58B-E14C-4C41-8A8F-4CB6C228392E wds:Q55783600-F7AFE2BA-1204-4C31-9CDF-AD7EB9F00E85 wds:Q55783600-F812FFA7-92D3-4993-93B6-33951F0FB43C
subclass of	genetic macular dystrophy inborn disorder of purine metabolism multiple congenital anomalies/dysmorphic syndrome-intellectual disability hereditary retinal dystrophy developmental anomaly of metabolic origin syndromic neurometabolic disease with non-X-linked intellectual disability
KEGG ID	wds:Q55783600-B1877F56-B91F-4B58-A74B-9BB353DD5B87
KEGG ID	http://www.kegg.jp/entry/H00966
KEGG ID	H00966
UniProt disease ID	wds:Q55783600-15bdb829-4baf-5e7b-ab21-11c816fa7505
Orphanet ID	wds:Q55783600-4FE06AB8-FE42-4584-AB80-7194D21A3BDA
genetic association	wds:Q55783600-D1E8C44B-5985-4D8A-918E-20A8F0A71D24
ICD-10-CM	wds:Q55783600-AB793236-5479-4744-9B58-935C9CA0367F
OMIM ID	wds:Q55783600-15A6A2AF-C8F5-413B-8C57-CBF012EA2413
UniProt disease ID	DI-00065
Orphanet ID	250977
genetic association	ATIC
ICD-10-CM	E79.8
OMIM ID	608688
skos:altLabel	5-amino-4-imidazole carboxamide ribosiduria (en) AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (en) Aica-Ribosuria Due to Atic Deficiency (en) Atic Deficiency (en)
UMLS CUI	wds:Q55783600-C14655CB-B030-4E6D-B3EC-215344DDE97A
MeSH descriptor ID	wds:Q55783600-D72A5363-5FA1-4DEB-9109-1CB984FCBFCA
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C563876
UMLS CUI	C1837530
MeSH descriptor ID	C563876
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783600
is main subject of	AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency Diagnosing AICA-ribosiduria by capillary electrophoresis The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation AICA-ribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and long-term update on the first case
is main subject of	wds:Q39425863-E6E01B5C-6F21-47C1-BF82-822E66C351FD wds:Q40263053-3688EB5A-72C8-42C1-BE19-EF77D55434CB wds:Q99558078-78EF74AA-770A-4CAB-B06F-BD4704C74544 wds:Q96584352-478CE36E-11B5-4ACF-96D0-15B25C4C5094 wds:Q24534042-4863D780-3462-4F14-B9B3-8F9968D8BF53
is genetic association of	ATIC
is genetic association of	wds:Q14914201-AB5F2A21-4572-46A6-AD0E-110E008C6FE8

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