Spondyloepiphyseal dysplasia, stanescu type

Preferred Label : Spondyloepiphyseal dysplasia, stanescu type;

Symbol : SEDSTN;

CISMeF acronym : SEDSTN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sed, stanescu type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-polypeptide gene (COL2A1, 120140.0055);

Prefixed ID : #616583;

Details

Origin ID

616583;

UMLS CUI

C4225273;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Stanescu type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Stanescu type [ORDO Disease]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Coxa valga [HPO term]
- Hypoplastic ilia [HPO term]
- Joint stiffness [HPO term]
- Kyphoscoliosis [HPO term]
- Platyspondyly [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Stiff neck [HPO term]
- Trismus [HPO term]
Not associated HPO term(s)
- Abnormality of body height [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia, Stanescu type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia Stanescu type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Stanescu type [ORDO Disease]

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