Spondyloepimetaphyseal dysplasia, missouri type

Preferred Label : Spondyloepimetaphyseal dysplasia, missouri type;

Symbol : SEMDM;

CISMeF acronym : MANDP1; SEMDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, missouri type;

Included titles and symbols : Metaphyseal anadysplasia 1; MANDP1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the matrix metalloproteinase-13 gene (MMP13, 600108.0001).;

Prefixed ID : #602111;

Details

Origin ID

602111;

UMLS CUI

C1865832;

Automatic exact mappings (from CISMeF team)
- MMP13 wt Allele [NCIt concept]
- metaphyseal anadysplasia 1 [MeSH Supplementary Concept]
- metaphyseal anadysplasia 1 [MeSH concept]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Missouri type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Missouri type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Missouri type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, Missouri type [DO Concept]
- spondyloepimetaphyseal dysplasia, missouri type [MeSH concept]
- spondyloepimetaphyseal dysplasia, missouri type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Missouri type [DO Concept]
Genes related to phenotype
- Matrix metalloproteinase 13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coxa vara [HPO term]
- Delayed skeletal maturation [HPO term]
- Femoral bowing [HPO term]
- Flared iliac wing [HPO term]
- Flared metaphysis [HPO term]
- Flared, irregular rib ends [HPO term]
- Flattened epiphysis [HPO term]
- Genu varum [HPO term]
- Irregular sclerotic endplates [HPO term]
- Limited elbow extension [HPO term]
- Metaphyseal cupping [HPO term]
- Mild platyspondyly [HPO term]
- Osteoarthritis [HPO term]
- Pear-shaped vertebrae [HPO term]
- Platyspondyly [HPO term]
- Radial bowing [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Small epiphyses [HPO term]
- Small, flattened epiphyses [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Tibial bowing [HPO term]
- Ulnar bowing [HPO term]
- Waddling gait [HPO term]
Not associated HPO term(s)
- Abnormality of the odontoid process [HPO term]
ORDO concept(s)
- Metaphyseal anadysplasia [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Missouri type [ORDO Disease]
Related ORDO disease(s)
- Metaphyseal anadysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia Missouri type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Missouri type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Missouri type [ICD-11 More detail]
- spondyloepimetaphyseal dysplasia, Missouri type [DO Concept]
- spondyloepimetaphyseal dysplasia, missouri type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, missouri type [MeSH concept]

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