Spondylometaphyseal dysplasia, corner fracture type

Preferred Label : Spondylometaphyseal dysplasia, corner fracture type;

Symbol : SMDCF;

CISMeF acronym : SMDCF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylometaphyseal dysplasia, sutcliffe type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibronectin-1 gene (FN1, 135600.0004);

Prefixed ID : #184255;

Details

Origin ID

184255;

UMLS CUI

C0432221;

Automatic exact mappings (from CISMeF team)
- FN1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia - Sutcliffe type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, 'corner fracture' type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, 'corner fracture' type [MeSH concept]
- Spondylometaphyseal dysplasia, 'corner fracture' type [ORDO Disease]
- spondylometaphyseal dysplasia, 'corner fracture' type [MeSH Supplementary Concept]
Genes related to phenotype
- Fibronectin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coxa vara [HPO term]
- Genu varum [HPO term]
- Hyperconvex vertebral body endplates [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Metaphyseal irregularity [HPO term]
- Ovoid vertebral bodies [HPO term]
- Pectus carinatum [HPO term]
- Sclerotic, irregular metaphyses [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia, 'corner fracture' type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia - Sutcliffe type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, 'corner fracture' type [ORDO Disease]
- Spondylometaphyseal dysplasia, 'corner fracture' type [MeSH concept]
- Spondylometaphyseal dysplasia, 'corner fracture' type [ICD-11 More detail]
- spondylometaphyseal dysplasia corner fracture type [DO Concept]
- spondylometaphyseal dysplasia, 'corner fracture' type [MeSH Supplementary Concept]

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