Spondyloepiphyseal dysplasia, nishimura type

Preferred Label : Spondyloepiphyseal dysplasia, nishimura type;

Symbol : SEDN;

CISMeF acronym : SEDN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the micro RNA 140 gene (MIR140, 611894.0001);

Prefixed ID : #618618;

Details

Origin ID

618618;

UMLS CUI

C4305147;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia, Nishimura type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome [ORDO Disease]
- spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation [MeSH Supplementary Concept]
Genes related to phenotype
- Micro rna 140 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphysis [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Inspiratory stridor [HPO term]
- Midface retrusion [HPO term]
- Osteoarthritis [HPO term]
- Recurrent respiratory infections [HPO term]
- Short nose [HPO term]
- Small hand [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) [SNOMED CT concept]

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