Czech dysplasia

Preferred Label : Czech dysplasia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepiphyseal dysplasia with precocious osteoarthritis; Czech dysplasia, metatarsal type; Pseudorheumatoid dysplasia, progressive, with hypoplastic toes;

Description : Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0018);

Prefixed ID : #609162;

Details

Origin ID

609162;

UMLS CUI

C1836683;

Currated CISMeF NLP mapping
- Czech dysplasia metatarsal type (disorder) [SNOMED CT concept]
- Czech dysplasia, metatarsal type [ICD-11 More detail]
- Czech dysplasia, metatarsal type [MeSH concept]
- Spondyloepiphyseal dysplasia with metatarsal shortening [ORDO Disease]
- czech dysplasia, metatarsal type [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coxa vara [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Flexion contracture [HPO term]
- Growth abnormality [HPO term]
- Hypoplasia of the toes [HPO term]
- Intervertebral space narrowing [HPO term]
- Irregular vertebral endplates [HPO term]
- Limitation of joint mobility [HPO term]
- Mild platyspondyly [HPO term]
- Narrow femoral neck [HPO term]
- Narrow iliac wing [HPO term]
- Osteochondroma [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short toe [HPO term]
- Thoracic kyphosis [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia with metatarsal shortening [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Czech dysplasia metatarsal type (disorder) [SNOMED CT concept]
- Czech dysplasia, metatarsal type [MeSH concept]
- Czech dysplasia, metatarsal type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia with metatarsal shortening [ORDO Disease]
- czech dysplasia, metatarsal type [MeSH Supplementary Concept]

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