Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type

Preferred Label : Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %609223;

Détails

Origin ID

609223;

UMLS CUI

C1836584;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type [MeSH concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad femoral neck [HPO term]
- Decreased hip abduction [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Intervertebral space narrowing [HPO term]
- Irregular vertebral endplates [HPO term]
- Lumbar hyperlordosis [HPO term]
- Mild spondyloepiphyseal dysplasia [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Short trunk [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- Thoracic kyphosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type [MeSH concept]

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