Spondyloepiphyseal dysplasia, kimberley type

Preferred Label : Spondyloepiphyseal dysplasia, kimberley type;

Symbol : SEDK;

CISMeF acronym : SEDK;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the aggrecan-1 gene (AGC1, 155760.0001);

Prefixed ID : #608361;

Details

Origin ID

608361;

UMLS CUI

C1842149;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Kimberley type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Kimberley type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
- spondyloepiphyseal dysplasia, kimberley type [MeSH concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH Supplementary Concept]
False automatic mappings
- Kyphoscoliotic Ehlers-Danlos syndrome [ORDO Disease]
Genes related to phenotype
- Aggrecan [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Platyspondyly [HPO term]
- Proportionate short stature [HPO term]
- Short stature, proportionate [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia Kimberley type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Kimberley type [ICD-11 More detail]
- spondyloepiphyseal dysplasia Kimberley type [DO Concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH concept]

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