Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
Synonyms

OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
ID

http://purl.bioontology.org/ontology/OMIM/207410
altLabel

OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES

MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES

TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME

ABS2
cui

C2936791
Gene Locus

10q26
Gene Symbol

TK14

JWS

BEK

CFD1

FGFR2

BBDS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU005733

http://purl.bioontology.org/ontology/OMIM/MTHU003181

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU005551

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU008581

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU014450

http://purl.bioontology.org/ontology/OMIM/MTHU007970

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU014449

http://purl.bioontology.org/ontology/OMIM/MTHU014447

http://purl.bioontology.org/ontology/OMIM/MTHU014448

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU001500

http://purl.bioontology.org/ontology/OMIM/MTHU045314

http://purl.bioontology.org/ontology/OMIM/MTHU014444

http://purl.bioontology.org/ontology/OMIM/MTHU001173
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

207410
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
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]
tui

T047
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