Metaphyseal dysplasia, spahr type

Preferred Label : Metaphyseal dysplasia, spahr type;

Symbol : MDST;

CISMeF acronym : MDST;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia, spahr type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the matrix metalloproteinase 13 gene (MMP13, 600108.0004);

Prefixed ID : #250400;

Details

Origin ID

250400;

UMLS CUI

C0432225;

Currated CISMeF NLP mapping
- Metaphyseal chondrodysplasia Spahr type [MeSH concept]
- Metaphyseal chondrodysplasia, Spahr type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Spahr type [ORDO Disease]
- Metaphyseal chondrodysplasia, Spahr type (disorder) [SNOMED CT concept]
- metaphyseal chondrodysplasia spahr type [MeSH Supplementary Concept]
Genes related to phenotype
- Matrix metalloproteinase 13 [OMIM gene]
HPO term(s)
- Abnormality of the head [HPO term]
- Autosomal recessive inheritance [HPO term]
- Disproportionate short stature [HPO term]
- Genu valgum [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal sclerosis [HPO term]
- Metaphyseal widening [HPO term]
- Motor delay [HPO term]
- Progressive leg bowing [HPO term]
- Short lower limbs [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Metaphyseal chondrodysplasia, Spahr type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal chondrodysplasia Spahr type [MeSH concept]
- Metaphyseal chondrodysplasia, Spahr type [ORDO Disease]
- Metaphyseal chondrodysplasia, Spahr type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Spahr type (disorder) [SNOMED CT concept]
- metaphyseal chondrodysplasia spahr type [MeSH Supplementary Concept]

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