Spondyloepiphyseal dysplasia tarda, autosomal dominant

Preferred Label : Spondyloepiphyseal dysplasia tarda, autosomal dominant;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %184100;

Détails

Origin ID

184100;

UMLS CUI

C1866717;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- spondyloepiphyseal dysplasia tarda, autosomal dominant [MeSH concept]
- spondyloepiphyseal dysplasia tarda, autosomal dominant [MeSH Supplementary Concept]
HPO term(s)
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Barrel-shaped chest [HPO term]
- Cervical subluxation [HPO term]
- Childhood-onset short-trunk short stature [HPO term]
- Hip pain [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Irregular vertebral endplates [HPO term]
- Knee pain [HPO term]
- Kyphoscoliosis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Short neck [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondyloepiphyseal dysplasia tarda, autosomal dominant [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal dominant [MeSH concept]

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