| Metadata | |
|---|---|
| ID | DOID:0050462 |
| Name | Antley-Bixler syndrome with disordered steroidogenesis |
| Definition | 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. http://en.wikipedia.org/wiki/Antley-Bixler_syndrome, https://pubmed.ncbi.nlm.nih.gov/35070845/ |
| Xrefs |
SNOMEDCT_US_2021_09_01:62964007 |
| Synonyms |
trapezoidocephaly-synostosis syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |