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Dyggve-Melchior-Clausen disease

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
Uniprot Description A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.
Mondo Term and Equivalent IDs
MONDO:0009130:  Dyggve-Melchior-Clausen disease
GARD:0006295: 
NCIT:C124844: 
Orphanet:239: 
SCTID:82699004: 
UMLS:C0265286: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found