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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/308205
http://purl.bioontology.org/ontology/OMIM/308205
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|---|---|
| Preferred Name | IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME |
| Synonyms |
IFAP1
ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IFAP1
ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA
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|---|---|
| prefLabel | IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
|
| Gene Symbol |
MBTPS2
OI19
IFAP
KFSDX
S2P
OLMSX
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| Scope Statement | Highly variable severity [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | Xp22.12-p22.11
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 308205
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5399971
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| Moved from | 300404
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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 |