ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Stickler syndrome type 2

Spondylometaphyseal dysplasia, Schmidt type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1	(0.52)	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 2		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): (no synonyms)		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: C537493		External references: 1 OMIM reference - No MeSH references

Stickler syndrome type 2		Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Retinal detachment - Sensorineural deafness / hearing loss - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Retinopathy		Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - 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