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acromesomelic dysplasia, Demirhan type

Disease Summary
Associated Targets (1)
Tchem

1


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Uniprot Description A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDD inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0012274:  acromesomelic dysplasia, Demirhan type
GARD:0010077: 
MESH:C537913: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found