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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C574275
http://purl.bioontology.org/ontology/MESH/C574275
|
|---|---|
| Preferred Name | Ectrodactyly |
| Synonyms |
Split-Hand-Foot Malformation 1
Split hand foot malformation 1
Split-Hand-Foot Deformity 1
Split-hand deformity
Split hand foot deformity 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Split-Hand-Foot Malformation 1
Split hand foot malformation 1
Split-Hand-Foot Deformity 1
Split-hand deformity
Split hand foot deformity 1
|
|---|---|
| prefLabel |
Ectrodactyly
|
| TH |
OMIM (2013)
ORD (2010)
|
| notation |
C574275
|
| MMR |
20151110
|
| MeSH Frequency |
73
|
| Semantic type UMLS property | |
| HM |
D017880
|
| Inverse of RB |
0
|
| Scope Statement |
An autosomal dominant limb malformation disorder involving the central rays of the autopod and presenting with SYNDACTYLY, median clefts of the hands and feet, and aplasia and/or hypoplasia of the FINGER PHALANGES and/or TOE PHALANGES; METACARPALS, and METATARSALS. Some patients with SHFM1 have been found to have INTELLECTUAL DISABILITY, ectodermal and craniofacial findings, orofacial clefting and SENSORINEURAL HEARING LOSS. Mutations have been mapped to the chromosome 7q21.3 region, which includes the DSS1, DLX5, and DLX6 genes. OMIM: 183600
|
| MDA |
20121106
|
| SC |
3
|
| type | |
| Mapped to | |
| tui |
T019
|
| cui |
C0265554
C2931019
|
| TERMUI |
T737202
T000889613
T737203
T737204
T738528
T000889612
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