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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/305600
http://purl.bioontology.org/ontology/OMIM/305600
|
|---|---|
| Preferred Name | FOCAL DERMAL HYPOPLASIA |
| Synonyms |
FDH
DHOF
FODH
GOLTZ SYNDROME
GOLTZ-GORLIN SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FDH
DHOF
FODH
GOLTZ SYNDROME
GOLTZ-GORLIN SYNDROME
|
|---|---|
| prefLabel | FOCAL DERMAL HYPOPLASIA
|
| Gene Symbol |
FODH
PORC
PORCN
DHOF
|
| notation | 305600
|
| Scope Statement | Affected males are all result of new mutation [MISCELLANEOUS]
Ninety percent of cases are female [MISCELLANEOUS]
Majority of cases (95%) are sporadic [MISCELLANEOUS]
Caused by mutation in the porcupine O-acyltransferase gene (PORCN, 300651.0001) [MOLECULAR BASIS]
|
| 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 | Xp11.23
|
| tui | T047
|
| cui | C0016395
|
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