About: cataract 39 multiple types

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

cataract that has material basis in heterozygous mutation in the CRYGB gene on chromosome 2q34

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) cataract that has material basis in heterozygous mutation in the CRYGB gene on chromosome 2q34 (en)
exact match	wds:Q27674876-299C5EF4-466C-4AA6-8A9F-58C0B3C23557 wds:Q27674876-97652FB6-5036-4897-B124-C283DCC74161
exact match	http://identifiers.org/doid/DOID:0110236 http://purl.obolibrary.org/obo/DOID_0110236
health specialty	wds:Q27674876-A7D1F2D5-6363-4796-AFFA-A0338EF39556
Mondo ID	wds:Q27674876-38EA8489-DABC-4154-B1F1-375639B87BE8
Disease Ontology ID	wds:Q27674876-4F1844E6-1542-43DA-87C1-4E1F3585769E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014075
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110236
health specialty	medical genetics
Mondo ID	MONDO_0014075
Disease Ontology ID	DOID:0110236
rdfs:label	cataract 39 multiple types (en)
skos:prefLabel	cataract 39 multiple types (en)
name	cataract 39 multiple types (en)
instance of	wds:Q27674876-04F69392-18E0-4802-A093-254F0D476286 wds:Q27674876-3D8D4F3C-6AD2-499B-9EE6-4B7D4E543E0C
instance of	class of disease rare disease
subclass of	wds:Q27674876-2AB148B4-50D9-4285-9788-DA5BEB40E81C wds:Q27674876-66BC217A-CA7F-402E-9574-B0166AD95676
subclass of	cataract autosomal dominant disease
UniProt disease ID	wds:Q27674876-285c8ba0-4a09-a142-a14d-08d2c64f8aec
genetic association	wds:Q27674876-C29ED563-AC17-48B4-90FE-5B202DB0B935
ICD-10-CM	wds:Q27674876-4E07FCB4-89D1-4A90-A0B4-98A0F963A734
OMIM ID	wds:Q27674876-52FCA3C8-E231-4D5D-BA82-702F9434263D wds:Q27674876-6F62754B-0050-49AB-8199-275E54F6EC7F
UniProt disease ID	DI-03806
genetic association	CRYGB
ICD-10-CM	Q12.0
OMIM ID	615188
skos:altLabel	CTRCT39 (en) CATARACT 39, MULTIPLE TYPES (en) CATARACT 39, MULTIPLE TYPES; CTRCT39 (en) autosomal dominant cataract 39 multiple types (en)
UMLS CUI	wds:Q27674876-64DC1DB8-C267-42FA-A7FB-E9640DDFA0B8
on focus list of Wikimedia project	wds:Q27674876-76D7F823-A40B-4A04-864A-9F7B30C4269C
UMLS CUI	C3808800
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27674876
is genetic association of	CRYGB
is genetic association of	wds:Q17910273-894798CB-A299-48E4-9C31-EDD6CAD7CCF1

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