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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Ménière disease
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

COCH COL2A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Ménière disease
COCH
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
COL2A1



Ménière disease
Spondyloepimetaphyseal dysplasia congenita, Strudwick 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

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Very frequent
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Lordosis
- Metaphyseal anomaly
- Platyspondyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Abnormal gait
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Kyphosis
- Myopia
- Osteoarthritis
- Retinal detachment

Occasional
- Genu varum
- Odontoid hypoplasia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Talipes-varus / metatarsal varus


Ménière disease

(no data available)