(Q18553311)

English

X-linked nonsyndromic deafness

human disease

X-linked deafness
Deafness, X-Linked 4, Congenital Sensorineural
DEAFNESS, X-LINKED 3; DFNX3
DEAFNESS, X-LINKED 3

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nonsyndromic deafness

1 reference

29 November 2020

1 reference

29 November 2020

1 reference

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

on focus list of Wikimedia project

WikiProject Medicine

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exact match

http://purl.obolibrary.org/obo/DOID_0050566

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0050566

2 references

10 July 2020

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_90625

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Identifiers

MeSH descriptor ID

C564727

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

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1 reference

29 November 2020

1 reference

28 August 2019

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

1 reference

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

(Q18553311)

X-linked nonsyndromic deafness

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