ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
13 signs/symptoms

Spondyloperipheral dysplasia - short ulna

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:

Spondyloperipheral dysplasia - short ulna		Multiple epiphyseal dysplasia type 1
	Synonym(s): (no synonyms)		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: - 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 - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: C535501


COMMON SIGNS	- Autosomal dominant inheritance - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Multiple epiphyseal dysplasia type 1
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Very frequent - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation Occasional - Genu valgum - Genu varum