Online Mendelian Inheritance in Man - ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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
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

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/62964007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D054882	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D054882	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D04	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/62964007	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0020667	MONDO	LOOM
http://identifiers.org/omim/207410	REXO	LOOM
http://identifiers.org/omim/207410	GEXO	LOOM
http://identifiers.org/omim/207410	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_207410	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020667	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020667	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020667	DOVES	LOOM