loading...| Preferred Name |
Antley-Bixler Syndrome Phenotype |
| Synonyms |
Cytochrome P450 Oxidoreductase Deficiency |
| Definitions |
Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. |
| ID |
http://purl.bioontology.org/ontology/MESH/D054882 |
| altLabel |
Cytochrome P450 Oxidoreductase Deficiency Multisynostotic Osteodysgenesis Trapezoidocephaly Synostosis Syndrome Antley Bixler Syndrome Type 2 Antley Bixler Syndrome Phenotype Multisynostotic Osteodysgenesis With Long Bone Fractures Antley-Bixler Syndrome Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency Phenotype, Antley-Bixler Syndrome Syndrome, Trapezoidocephaly-Synostosis Antley Bixler Syndrome, Autosomal Dominant Trapezoidocephaly-Synostosis Syndrome Antley-Bixler Syndrome Type 1 Antley-Bixler Syndrome, Autosomal Dominant Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase Antley-Bixler Syndrome Type 2 Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase Syndrome, Antley-Bixler Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency Osteodysgenesis, Multisynostotic Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Antley Bixler Syndrome with Disordered Steroidogenesis Antley-Bixler Syndrome, Autosomal Recessive Osteodysgenesis, Multisynostotic, With Fractures Antley Bixler Syndrome Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis Antley Bixler Syndrome Type 1 POR Deficiency Trapezoidocephaly-Synostosis Syndromes Antley Bixler Syndrome, Autosomal Recessive Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency Antley-Bixler Syndrome with Disordered Steroidogenesis |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C2350233 C5234850 C1860042 C2936791 |
| DC |
1 |
| definition |
Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). |
| DX |
20090101 |
| FX |
D051497 D009251 |
| HN |
2009 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
2009 |
| MDA |
20080708 |
| MMR |
20210510 |
| MN |
C16.320.565.925.324 C16.131.621.906.181 C05.116.099.370.894.115 C18.452.648.925.324 C05.660.906.181 |
| notation |
D054882 |
| prefLabel |
Antley-Bixler Syndrome Phenotype |
| TERMUI |
T702503 T812667 T001103238 T841237 T809849 T001103239 T812163 T001103242 T812161 T702501 T812666 T812162 T841236 T702505 T702502 T702504 T809848 T812164 |
| TH |
NLM (2013) NLM (2009) NLM (2022) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |