Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
Synonyms

TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
ID

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

TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME

MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES

OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES

ABS2
cui

C2936791
Gene Locus

10q26
Gene Symbol

TK14

FGFR2

BEK

BBDS

JWS

CFD1
Has manifestation

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU045316

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU045317

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU045315

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU004141

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

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

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

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

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D054882 Medical Subject Headings CUI