acheiropody
http://purl.obolibrary.org/obo/MONDO_0008700
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. [ Orphanet:931 ]
Term info
- GARD:0000376 (MONDO:equivalentTo)
- Orphanet:931 (OMIM:200500)
- SCTID:177504007 (MONDO:equivalentTo)
- MESH:C536014 (Orphanet:931/e)
- OMIM:200500 (Orphanet:931/e)
- DOID:0050603 (MONDO:equivalentTo)
ordo_morphological_anomaly
https://github.com/monarch-initiative/mondo/issues/4948
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
http://purl.obolibrary.org/obo/DOID_0050603, http://purl.obolibrary.org/obo/Orphanet_931, https://omim.org/entry/200500, http://identifiers.org/snomedct/177504007, http://identifiers.org/mesh/C536014
acheiropody, horn-Kolb syndrome, acheiropodia
ACHP, acheiropody, Brazilian type
MONDO:0008700