ODCs

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3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Homozygous familial hypercholesterolemia

Rubinstein-Taybi syndrome due to CREBBP mutations


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LDLR	(0.52)	CREBBP

Citations in the biomedical literature:

Homozygous familial hypercholesterolemia		Rubinstein-Taybi syndrome due to CREBBP mutations
	Synonym(s): - HoFH		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.