Terminology Service for NFDI4Health

acheiropody

Go to external page http://purl.obolibrary.org/obo/DOID_0050603


An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. [ http://purl.obolibrary.org/obo/ECO_0007638 ]

Term info

Label

acheiropody

Synonyms
  • Acheiropodia
  • Horn-Kolb Syndrome
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050603