Spondyloepimetaphyseal dysplasia, aggrecan type

Preferred Label : Spondyloepimetaphyseal dysplasia, aggrecan type;

Symbol : SEMDAG;

CISMeF acronym : SEMDAG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, aggrecan type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aggrecan gene (ACAN, 155760.0002);

Prefixed ID : #612813;

Details

Origin ID

612813;

UMLS CUI

C2748544;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH concept]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH Supplementary Concept]
Genes related to phenotype
- Aggrecan [OMIM gene]
HPO term(s)
- Absent nasal bridge [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Brachydactyly [HPO term]
- Broad thumb [HPO term]
- Bronchospasm [HPO term]
- Hoarse voice [HPO term]
- Irregular epiphyses [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Mesomelia [HPO term]
- Metaphyseal widening [HPO term]
- Midface retrusion [HPO term]
- Platyspondyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Relative macrocephaly [HPO term]
- Rhizomelia [HPO term]
- Short finger [HPO term]
- Short neck [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, aggrecan type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, aggrecan type [ICD-11 More detail]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH concept]

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