Otospondylomegaepiphyseal dysplasia, autosomal dominant

Preferred Label : Otospondylomegaepiphyseal dysplasia, autosomal dominant;

Symbol : OSMEDA;

CISMeF acronym : OSMEDA; STL3; WZS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stickler syndrome, type III; WZS; Weissenbacher-zweymuller syndrome; Pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type; STL3; Osmed, heterozygous;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, 120290.0001);

Prefixed ID : #184840;

Détails

Origin ID

184840;

UMLS CUI

C1848488;

Automatic exact mappings (from CISMeF team)
- OSMED heterozygous [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- otospondylomegaepiphyseal dysplasia, autosomal dominant [DO Concept]
Broader ORDO disease(s)
- Stickler syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Stickler syndrome type 3 [ICD-11 More detail]
- Stickler syndrome type 3 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 3 [MeSH concept]
- stickler syndrome, type 3 [MeSH Supplementary Concept]
DO Cross reference
- otospondylomegaepiphyseal dysplasia, autosomal dominant [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-2 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Anteverted nares [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Enlarged epiphyses [HPO term]
- Epiphyseal dysplasia [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Mild platyspondyly [HPO term]
- Pierre-Robin sequence [HPO term]
- Platyspondyly [HPO term]
- Premature osteoarthritis [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- OSMED heterozygous [MedDRA LLT]
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Stickler syndrome, type 3 [MeSH concept]
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]
- stickler syndrome, type 3 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients