acromesomelic dysplasia 2C, Hunter-Thompson type
http://purl.obolibrary.org/obo/MONDO_0008717
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. [ Orphanet:968 ]
Term info
- DOID:0080051 (MONDO:equivalentTo)
- GARD:0000506 (MONDO:equivalentTo)
- Orphanet:968 (OMIM:201250)
- OMIM:201250 (Orphanet:968/e)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/4521
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.
https://omim.org/entry/201250, http://purl.obolibrary.org/obo/DOID_0080051, http://purl.obolibrary.org/obo/Orphanet_968
acromesomelic dysplasia 2C, Hunter-Thompson type, acromesomelic dysplasia, Hunter-Thompson type, acromesomelic dwarfism
AMDH, acromesomelic dysplasia Hunter Thompson type
MONDO:0008717