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DO Term : Robinow syndrome [DOID:0060254] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

synonyms:
acral dysostosis with facial and genital abnormalities,
Robinow dwarfism,
SNOMEDCT_US_2023_03_01:76520005,
fetal face syndrome,
MESH:C562492,
GARD:312,
ORDO:97360,
UMLS_CUI:C0265205,
ICD10CM:Q87.19,
NCI:C85048,
OMIM:PS268310,
PS268310

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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