ODCs

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2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

2 OMIM references -
2 associated genes
10 signs/symptoms

Sclerosteosis

Hyperostosis corticalis generalisata

LRP4	(UniProt - OMIM)		LRP5	(UniProt - OMIM)
SOST	(UniProt - OMIM)		SOST	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOST	(0.68)	LRP5

Citations in the biomedical literature:

Sclerosteosis		Hyperostosis corticalis generalisata
	Synonym(s): - Cortical hyperostosis - syndactyly		Synonym(s): - Van Buchem disease

	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): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C537525		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Facial palsy - Osteosclerosis / osteopetrosis / bone condensation - Sensorineural deafness / hearing loss

Sclerosteosis		Hyperostosis corticalis generalisata
	Very frequent - Broad nose / nasal bridge - Dysplastic / thick / grooved fingernails - Irregular length / shape of fingers - Syndactyly of fingers / interdigital palm - Tall stature / gigantism / growth acceleration Frequent - Ptosis Occasional - Optic nerve anomaly / optic atrophy / anomaly of the papilla		Very frequent - Clavicle absent / abnormal - Prognathism / prognathia