About: renal tubular acidosis, distal, with progressive nerve deafness

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About: renal tubular acidosis, distal, with progressive nerve deafness 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
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55998730-5549F3AD-34B3-4FDA-8C89-4860C262139D wds:Q55998730-75C61EFC-ED20-4D4B-A054-9A3D72E56468
exact match	http://www.orpha.net/ORDO/Orphanet_18 http://www.orpha.net/ORDO/Orphanet_402041
Mondo ID	wds:Q55998730-EFC6B651-6915-4C65-9BE2-8F49541AFCF8
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009968
Mondo ID	MONDO_0009968
rdfs:label	acidose tubulaire rénale distale avec surdité (fr) renal tubular acidosis, distal, with progressive nerve deafness (en)
skos:prefLabel	acidose tubulaire rénale distale avec surdité (fr) renal tubular acidosis, distal, with progressive nerve deafness (en)
name	acidose tubulaire rénale distale avec surdité (fr) renal tubular acidosis, distal, with progressive nerve deafness (en)
instance of	wds:Q55998730-2E6AC2B4-9BF9-4AD4-8816-D50E391D09AC wds:Q55998730-C1A30C55-3EC6-4D22-9BD6-0B4F93CF68D4
instance of	rare disease disease
subclass of	wds:Q55998730-5425fc74-4ece-fa8d-65ee-6237fc12ff61
subclass of	distal renal tubular acidosis
ICD-9-CM	wds:Q55998730-2F0669E3-0B66-4901-B220-2CDE1CDF45DC wds:Q55998730-92ED7375-9E8B-4F5B-8447-31C58CB67261
genetic association	wds:Q55998730-9CCC05E0-4C81-46DF-BC73-F153528B8D8F
GARD rare disease ID	wds:Q55998730-1F8F9CB6-FBBD-4BBB-BE5F-68E66CD2CDDF
OMIM ID	wds:Q55998730-857F98FB-956C-45B0-A79B-DDC01DF392D1
ICD-9-CM	389.8 588.89
genetic association	ATP6V1B1
GARD rare disease ID	4666
OMIM ID	267300
skos:altLabel	Distal renal tubular acidosis type 1b (en) Rta With Progressive Nerve Deafness (en) RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS (en) Renal Tubular Acidosis With Progressive Nerve Deafness (en) Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness (en)
UMLS CUI	wds:Q55998730-9958A694-69E5-4EF5-9057-D5F06B122A59
MeSH descriptor ID	wds:Q55998730-EAB77E91-0E40-4358-929C-C2D9C2389103
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562897
UMLS CUI	C0403554
MeSH descriptor ID	C562897
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55998730
is genetic association of	ATP6V1B1
is genetic association of	wds:Q17834428-638EC9BF-86DD-4C6D-AADE-501A74CA426A

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