ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

2 OMIM references -
1 associated gene
22 signs/symptoms

Spondyloepimetaphyseal dysplasia, Missouri type

Stickler syndrome type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MMP13	(0.52)	COL2A1

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Stickler syndrome type 1
	Synonym(s): - SEMD type 2 - SEMD, Missouri type - Spondyloepimetaphyseal dysplasia type 2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		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 (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Osteoarthritis

Spondyloepimetaphyseal dysplasia, Missouri type		Stickler syndrome type 1
	Very frequent - Abnormal vertebral size / shape - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly Frequent - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Rhizomelic micromelia - Short stature / dwarfism / nanism Occasional - Restricted joint mobility / joint stiffness / ankylosis		Very frequent - Cataract / lens opacification - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Myopia - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia