ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
No signs/symptoms info

Phakomatosis pigmentokeratotica

17q11 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HRAS	(0.72)	NF1

Citations in the biomedical literature:

Phakomatosis pigmentokeratotica		17q11 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		Epidemiological data: (no data available)

	External references: No OMIM references 1 MeSH reference: C537893		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.