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(Q18553374)
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English
nonsyndromic congenital nail disorder 4
Human disease
anonychia congenita
HYPONYCHIA CONGENITA
NDNC4
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
nail disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080082
anonychia congenita
0 references
nonsyndromic congenital nail disorder
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080082
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080082
genetic association
RSPO4
2 references
stated in
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000101282/Orphanet_94150
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080082
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080082
http://identifiers.org/doid/DOID:0080082
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C536377
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080082
Disease Ontology ID
DOID:0080082
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0080082
GARD rare disease ID
12930
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080082
Mondo ID
MONDO_0008798
0 references
OMIM ID
206800
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080082
Orphanet ID
94150
0 references
UMLS CUI
C3277900
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-01185
0 references
Sitelinks
Wikipedia
(1 entry)
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eswiki
Anoniquia congénita
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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