ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Localized junctional epidermolysis bullosa, non-Herlitz type

Congenital short bowel syndrome

COL17A1	(UniProt - OMIM)		CLMP	(UniProt - OMIM)
ITGB4	(UniProt - OMIM)		FLNA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB4	(0.56)	FLNA

Citations in the biomedical literature:

Localized junctional epidermolysis bullosa, non-Herlitz type		Congenital short bowel syndrome
	Synonym(s): - JEB-nH loc		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Congenital short bowel syndrome
	Very frequent - Short bowel Frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Lipoatrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Occasional - Hypospadias / epispadias / bent penis
Localized junctional epidermolysis bullosa, non-Herlitz type
(no data available)