loading...| Preferred Name |
Ectrodactyly |
| Synonyms |
Split-hand deformity |
| ID |
http://purl.bioontology.org/ontology/MESH/C574275 |
| altLabel |
Split-hand deformity Split-Hand-Foot Deformity 1 Split hand foot malformation 1 Split hand foot deformity 1 Split-Hand-Foot Malformation 1 |
| cui |
C2931019 C0265554 |
| HM |
D017880 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121106 |
| MeSH Frequency |
73 |
| MMR |
20151110 |
| notation |
C574275 |
| prefLabel |
Ectrodactyly |
| SC |
3 |
| 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 |
| TERMUI |
T737204 T737202 T000889612 T738528 T000889613 T737203 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T019 |