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auriculo condylar syndrome
No description defined
Question mark ear
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Statements
instance of
genetic disease
0 references
rare disease
0 references
class of disease
0 references
subclass of
external ear disease
0 references
mode of inheritance
autosomal dominant
0 references
autosomal recessive
0 references
genetic association
GNAI3
2 references
stated in
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000065135/MONDO_0000107
based on heuristic
inferred from an Open Targets association score over 0.7
PLCB4
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000101333/MONDO_0000107
based on heuristic
inferred from an Open Targets association score over 0.7
Identifiers
MeSH descriptor ID
C538270
0 references
KEGG ID
H01884
0 references
GARD rare disease ID
9798
0 references
Genetics Home Reference Conditions ID
auriculo-condylar-syndrome
0 references
ICD-11 (foundation)
1545895796
0 references
Mondo ID
MONDO_0000107
0 references
OMIM ID
612798
0 references
602483
0 references
Orphanet ID
137888
0 references
UMLS CUI
C1865295
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-03467
0 references
Sitelinks
Wikipedia
(1 entry)
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dewiki
Aurikulo-kondyläres Syndrom
Wikibooks
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Wikinews
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Wikisource
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Wikiversity
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Wiktionary
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Multilingual sites
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