Osteoarthritis with mild chondrodysplasia

Preferred Label : Osteoarthritis with mild chondrodysplasia;

Symbol : OSCDP;

CISMeF acronym : NHD; OSCDP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Namaqualand hip dysplasia; NHD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0003);

Prefixed ID : #604864;

Details

Origin ID

604864;

UMLS CUI

C0432214;

Automatic exact mappings (from CISMeF team)
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis [ORDO Disease]
- Namaqualand hip dysplasia (disorder) [SNOMED CT concept]
- Nasu-Hakola disease [ORDO Disease]
Currated CISMeF NLP mapping
- osteoarthritis with mild chondrodysplasia [MeSH concept]
- osteoarthritis with mild chondrodysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Anterior beaking of vertebral bodies [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Heberden's node [HPO term]
- Hip osteoarthritis [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint stiffness [HPO term]
- Knee osteoarthritis [HPO term]
- Mild platyspondyly [HPO term]
- Platyspondyly [HPO term]
- Schmorl's node [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis [ORDO Disease]
See also inter- (CISMeF)
- Nasu-Hakola disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Namaqualand hip dysplasia (disorder) [SNOMED CT concept]
- Osteoarthritis with Mild Chondrodysplasia [NCIt concept]
- osteoarthritis with mild chondrodysplasia [MeSH concept]
- osteoarthritis with mild chondrodysplasia [MeSH Supplementary Concept]

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