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genitopatellar syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Uniprot Description A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies.
Mondo Term and Equivalent IDs
MONDO:0011640:  genitopatellar syndrome
GARD:0010994: 
MESH:C565255: 
Orphanet:85201: 
SCTID:702367005: 
UMLS:C1853566: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found