Jump to:
loading...| Preferred Name |
Robinow syndrome |
|
| Synonyms |
mesomelic dwarfism-small genitalia syndrome Robinow dwarfism Robinow-Silverman-Smith syndrome Acral dysostosis with facial and genital abnormalities Fetal face syndrome |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_12911 |
|
| ageOfDeath |
Normal |
|
| ageOfOnset |
Neonatal/infancy |
|
| altLabel |
mesomelic dwarfism-small genitalia syndrome Robinow dwarfism Robinow-Silverman-Smith syndrome Acral dysostosis with facial and genital abnormalities Fetal face syndrome |
|
| id_Medline | ||
| id_MIM |
180700 268310 |
|
| id_OMS |
Q87.1 |
|
| id_Orpha |
97360 |
|
| id_SNOMEDCT |
76520005 |
|
| id_UMLS |
C0265205 |
|
| inheritance |
Autosomal dominant Autosomal recessive |
|
| patType |
malformation syndrome |
|
| prefixIRI |
hrdo:pat_id_12911 |
|
| prefLabel |
Robinow syndrome |
|
| prevalence |
<1 / 1 000 000 |
|
| subClassOf |
Create mapping