Antley-Bixler syndrome with disordered steroidogenesis
Information
- Disease name
- Antley-Bixler syndrome with disordered steroidogenesis
- Disease ID
- DOID:0050462
- Description
- "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Antley-Bixler_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/35070845/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0081289
- Cross Reference ID (Disease Ontology)
- MIM:201750
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2021_09_01:62964007
- Exact Synonym (Disease Ontology)
- trapezoidocephaly-synostosis syndrome