has material basis in germline mutation in GDF5 acromesomelic dysplasia 2C, Hunter-Thompson type https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/acromesomelic_dysplasia_2c acromesomelic dysplasia 2C, Hunter-Thompson type Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. MEDGEN:419681 OMIM:201250 AMDH DOID:0080051 acromesomelic dysplasia Hunter Thompson type UMLS:C2930970 acromesomelic dysplasia, Hunter-Thompson type MONDO:0008717 Orphanet:968 GARD:0000506 acromesomelic dwarfism acromesomelic dysplasia