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Greenberg dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
Uniprot Description A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers.
Mondo Term and Equivalent IDs
MONDO:0008974:  Greenberg dysplasia
DOID:0111588: 
GARD:0008754: 
MESH:C535858: 
Orphanet:1426: 
SCTID:389261002: 
UMLS:C2931048: 
UMLS:CN199524: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)