Details of Disease

General Information of Disease (ID: DISAO4FJ)

Disease Name Synpolydactyly type 1
Synonyms
synpolydactyly 1; synpolydactyly with foot anomalies; syndactyly, type 2; HOXD13 non-syndromic synpolydactyly; synpolydactyly, Vordingborg type; non-syndromic synpolydactyly caused by mutation in HOXD13; SD2a; SPD, Vordingborg type; SPD1; SD2, Vordingborg type; synpolydactyly type 1
Definition Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.|Editors note: check whether is_a: MONDO:0019683 is appropriate
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISQHSJO: Non-syndromic synpolydactyly
DISNK0Q9: Non-syndromic polydactyly
DISAO4FJ: Synpolydactyly type 1
Disease Identifiers
MONDO ID
MONDO_0008513
UMLS CUI
C5574994
OMIM ID
186000
MedGen ID
1809573
Orphanet ID
295195

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HOXD13 OTWSC8TF Strong Autosomal dominant [1]
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References

1 Novel mutations of the HOXD13 gene in hand and foot malformations. Int Surg. 2007 Sep-Oct;92(5):287-95.