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(Q18553311)
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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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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
nonsyndromic deafness
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050566
X-linked disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050566
genetic association
PRPS1
1 reference
stated in
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
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050566
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050566
http://identifiers.org/doid/DOID:0050566
2 references
stated in
Disease Ontology
retrieved
10 July 2020
Disease Ontology ID
DOID:0050566
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_90625
0 references
Identifiers
MeSH descriptor ID
C564727
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010228
KEGG ID
H01209
0 references
Disease Ontology ID
DOID:0050566
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050566
ICD-10-CM
H90.3
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050566
Mondo ID
MONDO_0010228
0 references
OMIM ID
300030
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010228
304500
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050566
Orphanet ID
90625
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050566
UMLS CUI
C1848294
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010228
C3888089
1 reference
based on heuristic
inferred by common MeSH mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
25 May 2023
C5680192
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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