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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/207410
http://purl.bioontology.org/ontology/OMIM/207410
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|---|---|
| Preferred Name | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS |
| Synonyms |
OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
ABS2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
ABS2
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|---|---|
| prefLabel | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
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| Gene Symbol |
TK14
JWS
BEK
CFD1
FGFR2
BBDS
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| Scope Statement | For a similar phenotype with genital anomalies and disordered steroidogenesis see POR deficiency (201750) [MISCELLANEOUS]
Early death often due to respiratory complications [MISCELLANEOUS]
Caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0002) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 10q26
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 207410
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2936791
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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 |