ZFIN Human Disease: Robinow syndrome

OBO ID: DOID:0060254

Term Name:	Robinow syndrome		Search Ontology:
Synonyms:	acral dysostosis with facial and genital abnormalities fetal face syndrome Robinow dwarfism
Definition:	A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (3)
References:	GARD:312 ICD10CM:Q87.19 MESH:C562492 NCI:C85048 OMIM:PS268310 ORDO:97360 SNOMEDCT_US_2023_03_01:76520005 UMLS_CUI:C0265205
Ontology:	Human Disease ( DOID:0060254 )

Relationships

is a type of:	autosomal genetic disease syndrome autosomal genetic disease syndrome Show first 5 Terms
has subtype:	autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (2)