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Mowat-Wilson syndrome due to monosomy 2q22
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Mowat-Wilson syndrome due to a point mutation
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
2q37 microdeletion syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Heritable pulmonary arterial hypertension
Inherited acute myeloid leukemia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
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
Synonym(s):
- Hirschsprung disease and intellectual deficit due to 2q22 microdeletion
- Hirschsprung disease and intellectual deficit due to del(2)(q22)
- Hirschsprung disease and intellectual deficit due to monosomy 2q22
- Mowat-Wilson syndrome due to 2q22 microdeletion
- Mowat-Wilson syndrome due to del(2)q(22)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ZEB2 O60315605802
No signs/symptoms info available.