ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 2

2 OMIM references -
2 associated genes
No signs/symptoms info

Spondyloepiphyseal dysplasia, Kimberley type

Nodulosis-arthropathy-osteolysis syndrome

ACAN	(UniProt - OMIM)		MMP14	(UniProt - OMIM)
			MMP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACAN ACAN	(0.65) (0.52)	MMP14 MMP2

Citations in the biomedical literature:

Spondyloepiphyseal dysplasia, Kimberley type		Nodulosis-arthropathy-osteolysis syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Multicentric osteolysis - nodulosis - arthropathy - NAO syndrome

	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): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Spondyloepiphyseal dysplasia, Kimberley type
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Osteoarthritis - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism
Nodulosis-arthropathy-osteolysis syndrome
(no data available)