Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

Preferred Label : Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis;

NCIt synonyms : ABS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.;

Details

Origin ID

C178415;

UMLS CUI

C3150099;

Currated CISMeF NLP mapping
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]
- Antley-bixler syndrome with genital anomalies and disordered steroidogenesis [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antley-bixler syndrome with genital anomalies and disordered steroidogenesis [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- POR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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