ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 associated gene
22 signs/symptoms

Spondyloepimetaphyseal dysplasia, Missouri type

Dysspondyloenchondromatosis


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

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Dysspondyloenchondromatosis
	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 genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Osteoarthritis - Short stature / dwarfism / nanism

Spondyloepimetaphyseal dysplasia, Missouri type		Dysspondyloenchondromatosis
	Very frequent - Abnormal vertebral size / shape - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Metaphyseal anomaly Frequent - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Rhizomelic micromelia Occasional - Restricted joint mobility / joint stiffness / ankylosis		Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Genu valgum - Platyspondyly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Bone / osseous neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications