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atelosteogenesis type II

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Uniprot Description A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.
Mondo Term and Equivalent IDs
MONDO:0009727:  atelosteogenesis type II
GARD:0008329: 
MESH:C535395: 
Orphanet:56304: 
SCTID:254055004: 
UMLS:C1850554: 
UMLS:C1850555: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found