ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
13 signs/symptoms

Spondylometaphyseal dysplasia, Schmidt type

Multiple epiphyseal dysplasia type 1


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

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Multiple epiphyseal dysplasia type 1
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): - EDM1 - MED1 - Polyepiphyseal dysplasia type 1

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535501


COMMON SIGNS	- Autosomal dominant inheritance - Genu valgum - Joint / articular deformation - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondylometaphyseal dysplasia, Schmidt type		Multiple epiphyseal dysplasia type 1
	Very frequent - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis Frequent - Abnormal vertebral size / shape - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality		Very frequent - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly Occasional - Genu varum