Preferred Label : Short stature and advanced bone age with or without early-onset osteoarthritis and/or
osteochondritis dissecans;
Symbol : SSOAOD;
CISMeF acronym : OD; SSOAOD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Osteochondritis dissecans, short stature, and early-onset osteoarthritis; OD;
Description : The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage
and subchondral bone from the surrounding tissue and primarily affects the knee, ankle,
and elbow joints. Familial osteochondritis dissecans is characterized by multiple
osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short
stature, and early-onset osteoarthritis (OA) (summary by Stattin et al., 2010). The
term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and
is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.'
Dissecans refers to the appearance of part of the bone having been cut away.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the aggrecan gene (ACAN, 155760.0003);
Prefixed ID : #165800;
Origin ID : 165800;
UMLS CUI : C3665488;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)