Spondyloepimetaphyseal dysplasia, shohat type

Preferred Label : Spondyloepimetaphyseal dysplasia, shohat type;

Symbol : SEMDSH;

CISMeF acronym : SEMDSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, shohat type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DDRGK domain-containing protein 1 gene (DDRGK1, 616177.0001);

Prefixed ID : #602557;

Details

Origin ID

602557;

UMLS CUI

C1865185;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Shohat type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Shohat type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Shohat type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, shohat type [MeSH concept]
- spondyloepimetaphyseal dysplasia, shohat type [MeSH Supplementary Concept]
Genes related to phenotype
- Ddrgk domain-containing protein 1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Central vertebral hypoplasia [HPO term]
- Coxa vara [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Disproportionate short stature [HPO term]
- Fibular overgrowth [HPO term]
- Flared metaphysis [HPO term]
- Flared, widened metaphyses [HPO term]
- Genu varum [HPO term]
- Hepatomegaly [HPO term]
- Hoarse voice [HPO term]
- Joint laxity [HPO term]
- Limb undergrowth [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal irregularity [HPO term]
- Micromelia [HPO term]
- Mild hepatomegaly [HPO term]
- Mild interpedicular narrowing [HPO term]
- Mild splenomegaly [HPO term]
- Narrow greater sciatic notch [HPO term]
- Narrow vertebral interpedicular distance [HPO term]
- Platyspondyly [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short stature, severe disproportionate [HPO term]
- Splenomegaly [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Vertebral hypoplasia [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, Shohat type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia Shohat type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Shohat type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Shohat type [ICD-11 More detail]
- spondyloepimetaphyseal dysplasia, shohat type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, shohat type [MeSH concept]

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