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Neonatal inflammatory skin and bowel disease
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Distal 22q11.2 microdeletion syndrome
Sorsby's fundus dystrophy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
Autosomal recessive malignant osteopetrosis
Intermittent hydrarthrosis
Oligodontia
TRAPS syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADAM17 P78536603639
No signs/symptoms info available.