Antley-Bixler syndrome phenotype

Preferred Label : Antley-Bixler syndrome phenotype;

MeSH definition : 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).;

MeSH synonym : phenotype, Antley-Bixler syndrome; antley bixler syndrome phenotype;

CISMeF synonym : syndrome phenotype, Antley-Bixler;

MeSH hyponym : POR deficiency; Antley-Bixler syndrome, autosomal dominant; Antley Bixler Syndrome, Autosomal Dominant; Trapezoidocephaly-Synostosis Syndrome; Syndrome, Trapezoidocephaly-Synostosis; Syndromes, Trapezoidocephaly-Synostosis; Trapezoidocephaly Synostosis Syndrome; Trapezoidocephaly-Synostosis Syndromes; Multisynostotic Osteodysgenesis With Long Bone Fractures; Osteodysgenesis, Multisynostotic, With Fractures; Antley-Bixler Syndrome; Antley Bixler Syndrome; Syndrome, Antley-Bixler; Multisynostotic Osteodysgenesis; Osteodysgenesis, Multisynostotic; Antley-Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome with Disordered Steroidogenesis; Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency; Cytochrome P450 Oxidoreductase Deficiency; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency; Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase; Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency; Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis; Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Recessive; Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase; Antley-Bixler Syndrome Type 1; Antley Bixler Syndrome Type 1; Antley-Bixler Syndrome Type 2; Antley Bixler Syndrome Type 2;

Related MeSH term : Antley Bixler Syndrome; Syndrome, Antley-Bixler; Multisynostotic Osteodysgenesis; Osteodysgenesis, Multisynostotic;

Details

Origin ID

D054882;

UMLS CUI

C2350233;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]
- P450 Oxidoreductase Deficiency [NCIt concept]
- cytochrome P450 oxidoreductase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Antley Bixler syndrome [Disease (Nov.)]
- Antley-Bixler syndrome [DO Concept]
- Antley-Bixler syndrome [ICD-11 More detail]
- Antley-Bixler syndrome [MedDRA Preferred Term]
- Antley-Bixler syndrome (disorder) [SNOMED CT concept]
- Antley-bixler syndrome without genital anomalies or disordered steroidogenesis [OMIM Phenotype]
- Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency [NCIt concept]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ICD-11 More detail]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) [SNOMED CT concept]
- Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency [OMIM Phenotype]
- antley-bixler syndrome [SNOMED Notion]
- cytochrome P450 oxidoreductase deficiency [Disease (Nov.)]
DO Cross reference
- Antley-Bixler syndrome [DO Concept]
Record concept(s)
- Antley-Bixler Syndrome [MeSH concept]
- Antley-Bixler Syndrome, Autosomal Recessive [MeSH concept]
- Antley-Bixler syndrome phenotype [MeSH concept]
- Antley-Bixler syndrome, autosomal dominant [MeSH concept]
See also
- NADPH-Ferrihemoprotein reductase [MeSH Descriptor]
- receptor, fibroblast growth factor, type 2 [MeSH Descriptor]
See also inter- (CISMeF)
- Antley-Bixler syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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