Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type

Preferred Label : Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type;

Symbol : SEMDBCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, matn3-related; Spondyloepimetaphyseal dysplasia, matrilin-3 related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the matrilin 3 gene (MATN3, 602109.0005);

Prefixed ID : #608728;

Details

Origin ID

608728;

UMLS CUI

C1837481;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, matrilin-3 type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, matrilin-3 type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, Matrilin-3 related [MeSH concept]
- spondyloepimetaphyseal dysplasia, Matrilin-3 related [MeSH Supplementary Concept]
Genes related to phenotype
- Matrilin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dysplastic iliac wing [HPO term]
- Flat acetabular roof [HPO term]
- Hypoplastic pubic bone [HPO term]
- Irregular epiphyses [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal spurs [HPO term]
- Metaphyseal widening [HPO term]
- Micromelia [HPO term]
- Narrow iliac wing [HPO term]
- Ovoid vertebral bodies [HPO term]
- Platyspondyly [HPO term]
- Posterior rib cupping [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Thoracic hypoplasia [HPO term]
- Waddling gait [HPO term]
- flat oval-shaped vertebral bodies [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, matrilin-3 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, matrilin-3 type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, Matrilin-3 related [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, Matrilin-3 related [MeSH concept]

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