Otospondylomegaepiphyseal dysplasia, autosomal recessive

Preferred Label : Otospondylomegaepiphyseal dysplasia, autosomal recessive;

Symbol : OSMEDB;

CISMeF acronym : OSMEDB; OSMED; WZS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nance-insley syndrome; Chondrodystrophy with sensorineural deafness; Weissenbacher-zweymuller syndrome; OSMED; WZS; Nance-sweeney chondrodysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, 120290.0002);

Prefixed ID : #215150;

Details

Origin ID

215150;

UMLS CUI

C5551484;

Automatic exact mappings (from CISMeF team)
- Chondrodystrophy with Sensorineural Deafness [MeSH concept]
- OSM Gene [NCIt concept]
- Oncostatin M Measurement [NCIt concept]
- Oncostatin-M [NCIt concept]
- Osmole [NCIt concept]
- Otospondylomegaepiphyseal dysplasia [MedDRA Preferred Term]
- Recombinant Oncostatin M [NCIt concept]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- megaepiphyseal dwarfism [MeSH Supplementary Concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Otospondylomegaepiphyseal dysplasia [ICD-11 More detail]
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia (disorder) [SNOMED CT concept]
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]
DO Cross reference
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the capital femoral epiphysis [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Coronal cleft vertebrae [HPO term]
- Enlarged joints [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flared metaphysis [HPO term]
- Flexion contracture [HPO term]
- Large tarsal bones [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mixed hearing impairment [HPO term]
- Pierre-Robin sequence [HPO term]
- Platyspondyly [HPO term]
- Premature osteoarthritis [HPO term]
- Prominent interphalangeal joints [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Abnormality of the eye [HPO term]
ORDO concept(s)
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megaepiphyseal dwarfism [MeSH concept]
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia [ICD-11 More detail]
- Otospondylomegaepiphyseal dysplasia [MedDRA Preferred Term]
- Otospondylomegaepiphyseal dysplasia (disorder) [SNOMED CT concept]
- megaepiphyseal dwarfism [MeSH Supplementary Concept]
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]

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