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thanatophoric dysplasia type 1

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Uniprot Description A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs.
Mondo Term and Equivalent IDs
MONDO:0008546:  thanatophoric dysplasia type 1
GARD:0004889: 
GARD:0009295: 
NCIT:C98583: 
Orphanet:1860: 
UMLS:C1300256: 
UMLS:C1868678: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found