| 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 |
| SKOS |
exactMatch MESH:D054882 |
| Synonyms |
trapezoidocephaly-synostosis syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some symptom |