ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

17q11 microdeletion syndrome

Epidermolysis bullosa simplex, Ogna type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	PLEC

Citations in the biomedical literature:

17q11 microdeletion syndrome		Epidermolysis bullosa simplex, Ogna type
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - EBS-O

	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 (Orphanet): - Rare genetic disease - Rare skin disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535962

Epidermolysis bullosa simplex, Ogna type
	Very frequent - Autosomal dominant inheritance - Bruisability - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Skin hypoplasia / aplasia / atrophy
17q11 microdeletion syndrome
(no data available)