Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans

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;

Détails

Origin ID

165800;

UMLS CUI

C3665488;

Automatic exact mappings (from CISMeF team)
- Right Eye [NCIt concept]
- Right eye [FMA entity]
- Unit of Optical Density [NCIt concept]
- drug overdose, nos [SNOMED Notion]
- right atrium [MeSH concept]
Currated CISMeF NLP mapping
- Familial osteochondritis dissecans [ORDO Disease]
- Short stature-advanced bone age-early-onset osteoarthritis syndrome [ORDO Disease]
- familial osteochondritis dissecans [MeSH Supplementary Concept]
DO Cross reference
- osteochondritis dissecans [DO Concept]
False automatic mappings
- Doctor of Optometry [NCIt concept]
- Optical density [LOINC component]
- Optical density [LOINC Property]
- Optical density (observable entity) [SNOMED CT concept]
- Optical density units (qualifier value) [SNOMED CT concept]
- South Sudan [NCIt concept]
Genes related to phenotype
- Aggrecan [OMIM gene]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Depressed nasal bridge [HPO term]
- Exostoses [HPO term]
- Frontal bossing [HPO term]
- Growth abnormality [HPO term]
- Hip osteoarthritis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Midface retrusion [HPO term]
- Osteoarthritis [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Familial osteochondritis dissecans [ORDO Disease]
- Short stature-advanced bone age-early-onset osteoarthritis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial osteochondritis dissecans [ORDO Disease]
- Familial osteochondritis dissecans (disorder) [SNOMED CT concept]
- familial osteochondritis dissecans [MeSH concept]
- familial osteochondritis dissecans [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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