Spondyloepimetaphyseal dysplasia, strudwick type

Preferred Label : Spondyloepimetaphyseal dysplasia, strudwick type;

Symbol : SEMDSTWK;

CISMeF acronym : SEMDC; SEMDSTWK; SMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smed, strudwick type; Semd, strudwick type; Spondylometaepiphyseal dysplasia congenita, strudwick type; Strudwick syndrome; Dappled metaphysis syndrome; Spondylometaphyseal dysplasia; Smed, type I; SMD; SEMDC;

Description : The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0017);

Prefixed ID : #184250;

Details

Origin ID

184250;

UMLS CUI

C0700635;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) [SNOMED CT concept]
- Strudwick syndrome [MeSH concept]
- spondyloepimetaphyseal dysplasia Strudwick type [Disease (Nov.)]
- spondyloepimetaphyseal dysplasia, Strudwick type [DO Concept]
- strudwick syndrome [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Strudwick type [DO Concept]
False automatic mappings
- Stable Metabolic Disease [NCIt concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Anterior rib cupping [HPO term]
- Anteriorly splayed ribs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- C1-C2 subluxation [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Club-shaped proximal femur [HPO term]
- Coxa vara [HPO term]
- Delayed pubic bone ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism, short-trunk, short-limbed [HPO term]
- Genu valgum [HPO term]
- Hyperlordosis [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypoplastic pubic bone [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Lordosis [HPO term]
- Metaphyseal dappling [HPO term]
- Metaphyseal irregularity [HPO term]
- Myopia [HPO term]
- Narrow greater sciatic notch [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Protuberant abdomen [HPO term]
- Sclerotic, irregular metaphyses [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia [HPO term]
- Spondylometaphyseal dysplasia [ORDO Disease]
- Strudwick syndrome [MeSH concept]
- spondyloepimetaphyseal dysplasia Strudwick type [Disease (Nov.)]
- spondyloepimetaphyseal dysplasia, Strudwick type [DO Concept]
- strudwick syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Spondylometaphyseal dysplasia [HPO term]
- Spondylometaphyseal dysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasias [ICD-11 Subcategory]

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