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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/613573
http://purl.bioontology.org/ontology/OMIM/613573
|
|---|---|
| Preferred Name | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 |
| Synonyms |
EDSS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EDSS1
|
|---|---|
| prefLabel | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
|
| Gene Symbol |
EDSS1
PRR4
PVRL4
NECTIN 4
|
| notation | 613573
|
| Scope Statement | Caused by mutation in the poliovirus receptor-like 4 gene (PVRL4, 609607.0001) [MOLECULAR BASIS]
Heat intolerance (in some patients) [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1q23.3
|
| tui | T047
|
| cui | C3150807
|
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