loading...| Preferred Name |
Robinow syndrome |
|
| Synonyms |
costovertebral segmentation defect with mesomelia (formerly) Covesdem syndrome (formerly) foetal face syndrome acral dysostosis with facial and genital abnormalities Robinow dwarfism mesomelic dwarfism-small genitalia syndrome Robinow-Silverman-Smith syndrome fetal face syndrome |
|
| Definitions |
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019978 |
|
| database_cross_reference |
OMIMPS:268310 DOID:0060254 GARD:312 UMLS:C0265205 NCIT:C85048 NORD:1673 Orphanet:97360 |
|
| definition |
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0060254 http://purl.obolibrary.org/obo/Orphanet_97360 http://purl.obolibrary.org/obo/NCIT_C85048 |
|
| has_exact_synonym |
foetal face syndrome acral dysostosis with facial and genital abnormalities Robinow dwarfism mesomelic dwarfism-small genitalia syndrome Robinow-Silverman-Smith syndrome fetal face syndrome |
|
| has_related_synonym |
costovertebral segmentation defect with mesomelia (formerly) Covesdem syndrome (formerly) |
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| IAO_0000233 | ||
| id |
MONDO:0019978 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Robinow syndrome |
|
| notation |
MONDO:0019978 |
|
| prefLabel |
Robinow syndrome |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0018230 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018230 |