Spondyloepiphyseal dysplasia tarda, X-linked

Preferred Label : Spondyloepiphyseal dysplasia tarda, X-linked;

Symbol : SEDT;

CISMeF acronym : SEDT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sed tarda, X-linked; Spondyloepiphyseal dysplasia, late;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the sedlin gene (SEDL, 300202.0001);

Prefixed ID : #313400;

Détails

Origin ID

313400;

UMLS CUI

C3541456;

Automatic exact mappings (from CISMeF team)
- osteochondrodysplasias [MeSH Descriptor]
- spondyloepiphyseal dysplasia congenita [DO Concept]
- trafficking protein particle complex subunit 2 [ORDO Gene]
- trafficking protein particle complex subunit 2 [HGNC gene]
Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia [MedDRA Preferred Term]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda [ACR pathology]
- Spondyloepiphyseal dysplasia tarda (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, X-linked [ICD-11 More detail]
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
- X-linked spondyloepiphyseal dysplasia tarda [MedDRA LLT]
- spondyloepiphyseal dysplasia tarda [Disease (Nov.)]
- spondyloepiphyseal dysplasia tarda [SNOMED Notion]
- spondyloepiphyseal dysplasia tarda, X-Linked [MeSH concept]
DO Cross reference
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
Genes related to phenotype
- Tracking protein particle complex, subunit 2 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Barrel-shaped chest [HPO term]
- Corneal opacity [HPO term]
- Coxa vara [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Hip osteoarthritis [HPO term]
- Hump-shaped mound of bone in central and posterior portions of vertebral endplate [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypoplastic iliac wing [HPO term]
- Irregular epiphyses [HPO term]
- Kyphosis [HPO term]
- Limitation of joint mobility [HPO term]
- Lumbar hyperlordosis [HPO term]
- Opacification of the corneal stroma [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Shield chest [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia tarda (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, X-linked [ICD-11 More detail]
- X-linked spondyloepiphyseal dysplasia tarda [MedDRA LLT]
- X-linked spondyloepiphyseal dysplasia tarda [DO Concept]
- spondyloepiphyseal dysplasia tarda [SNOMED Notion]
- spondyloepiphyseal dysplasia tarda, X-Linked [MeSH concept]

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