| Metadata | |
|---|---|
| ID | DOID:0060254 |
| Name | Robinow syndrome |
| Definition | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. http://en.wikipedia.org/wiki/Robinow_syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract, http://ghr.nlm.nih.gov/condition/robinow-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:76520005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acral dysostosis with facial and genital abnormalities [EXACT] fetal face syndrome [EXACT] Robinow dwarfism [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance |