ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
19 signs/symptoms

Spondyloepimetaphyseal dysplasia, Missouri type

Otospondylomegaepiphyseal dysplasia

MMP13	(UniProt - OMIM)		COL11A2	(UniProt - OMIM)
			COL2A1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Otospondylomegaepiphyseal dysplasia
	Synonym(s): - SEMD type 2 - SEMD, Missouri type - Spondyloepimetaphyseal dysplasia type 2		Synonym(s): - OSMED

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Abnormal vertebral size / shape - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis

Spondyloepimetaphyseal dysplasia, Missouri type		Otospondylomegaepiphyseal dysplasia
	Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly Frequent - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Osteoarthritis - Rhizomelic micromelia - Short stature / dwarfism / nanism		Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Sensorineural deafness / hearing loss Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication