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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/604292
http://purl.bioontology.org/ontology/OMIM/604292
|
|---|---|
| Preferred Name | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 |
| Synonyms |
EEC3
EEC SYNDROME 3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EEC3
EEC SYNDROME 3
|
|---|---|
| prefLabel | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
|
| Gene Symbol |
SHFM4
KET
TP63
EEC3
RHS
LMS
OFC8
TP73L
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| Scope Statement | Allelic to ADULT syndrome (103285), split hand/foot malformation 4 (605289), Rapp-Hodgkin syndrome (129400), Hay-Wells syndrome (106260), and limb-mammary syndrome (603543) [MISCELLANEOUS]
Majority of EEC cases appear to be secondary to TP63 mutations (603273) [MISCELLANEOUS]
Heterogeneous disorder [MISCELLANEOUS]
Caused by mutation in the tumor protein p63 gene (TP63, 603273.0001) [MOLECULAR BASIS]
Two loci described - EEC1 (129900) and EEC3 (604292) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 3q27
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 604292
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1858562
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| Moved from | 602077
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |