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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, http://ghr.nlm.nih.gov/condition/robinow-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract
Xrefs

GARD:312

ICD10CM:Q87.19

MESH:C562492

NCI:C85048

OMIM:PS268310

ORDO:97360

SNOMEDCT_US_2023_03_01:76520005

UMLS_CUI:C0265205

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

is_a autosomal genetic disease

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