Spondyloepimetaphyseal dysplasia, isidor-toutain type

Preferred Label : Spondyloepimetaphyseal dysplasia, isidor-toutain type;

Symbol : SEMDIST;

CISMeF acronym : SEMDIST;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein-L13 gene (RPL13, 113703.0001);

Prefixed ID : #618728;

Details

Origin ID

618728;

UMLS CUI

C5231478;

CISMeF manual mappings
- Spondyloepimetaphyseal dysplasia, Isidor type [ORDO Disease]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Isidor type (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ribosomal protein l13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coxa vara [HPO term]
- Enlarged metaphyses [HPO term]
- Genu varum [HPO term]
- Irregular femoral epiphysis [HPO term]
- Lower-limb metaphyseal irregularity [HPO term]
- Platyspondyly [HPO term]
- Postnatal growth retardation [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Short long bone [HPO term]
- Upper-limb metaphyseal irregularity [HPO term]
Not associated HPO term(s)
- Anemia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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