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Ménière disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Spondylometaphyseal dysplasia, Schmidt type
1 OMIM reference -
1 associated gene
11 signs/symptoms
Ménière disease
Spondylometaphyseal dysplasia, Schmidt type

COCH
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COCH
(0.72)
COL2A1


Citations in the biomedical literature:


Ménière disease
COCH
Spondylometaphyseal dysplasia, Schmidt type
COL2A1



Ménière disease
Spondylometaphyseal dysplasia, Schmidt type

Synonym(s):
(no synonyms)

Synonym(s):
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, Algerian type
Classification (Orphanet):
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D008575
External references:
1 OMIM reference -
No MeSH references
Spondylometaphyseal dysplasia, Schmidt type

Very frequent
- Autosomal dominant inheritance
- Genu valgum
- Kyphosis
- Metaphyseal anomaly
- Myopia
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Joint / articular deformation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality



Ménière disease

(no data available)