Spondyloperipheral dysplasia

Preferred Label : Spondyloperipheral dysplasia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloperipheral dysplasia with short ulna;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0030);

Prefixed ID : #271700;

Details

Origin ID

271700;

UMLS CUI

C0796173;

Currated CISMeF NLP mapping
- Spondyloperipheral Dysplasia [NCIt concept]
- Spondyloperipheral dysplasia (disorder) [SNOMED CT concept]
- Spondyloperipheral dysplasia - short ulna [ICD-11 More detail]
- Spondyloperipheral dysplasia short ulna [MeSH concept]
- Spondyloperipheral dysplasia with short ulna syndrome (disorder) [SNOMED CT concept]
- Spondyloperipheral dysplasia-short ulna syndrome [ORDO Disease]
- familial spondyloepiphyseal dysplasia [Disease (Nov.)]
- spondyloperipheral dysplasia short ulna [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Absent styloid process of ulna [HPO term]
- Acetabular spurs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Brachydactyly [HPO term]
- Brachydactyly e-like changes [HPO term]
- Broad palm [HPO term]
- Broad thumb [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Flat acetabular roof [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Horizontal acetabular roof [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplasia of the ulna [HPO term]
- Kyphosis [HPO term]
- Limited elbow extension [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Mild platyspondyly [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Pugilistic facies [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short distal phalanx of finger [HPO term]
- Short distal phalanx of the 2nd finger [HPO term]
- Short distal phalanx of the 3rd finger [HPO term]
- Short distal phalanx of the 4th finger [HPO term]
- Short distal phalanx of the 5th finger [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Short toe [HPO term]
- Short, broad thumbs [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Shortening of all proximal phalanges of the fingers [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
ORDO concept(s)
- Spondyloperipheral dysplasia-short ulna syndrome [ORDO Disease]
See also inter- (CISMeF)
- Spondyloperipheral dysplasia-short ulna syndrome [ORDO Disease]
- spondyloperipheral dysplasia short ulna [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloperipheral Dysplasia [NCIt concept]
- Spondyloperipheral dysplasia (disorder) [SNOMED CT concept]
- Spondyloperipheral dysplasia - short ulna [ICD-11 More detail]
- Spondyloperipheral dysplasia short ulna [MeSH concept]
- Spondyloperipheral dysplasia-short ulna syndrome [ORDO Disease]
- familial spondyloepiphyseal dysplasia [Disease (Nov.)]
- spondyloperipheral dysplasia short ulna [MeSH Supplementary Concept]

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