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Senior-Boichis syndrome
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Meckel syndrome
Joubert syndrome
Joubert syndrome with hepatic defect
Chronic respiratory distress with surfactant metabolism deficiency
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Bardet-Biedl syndrome
Synonym(s):
- Boichis disease
- Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TMEM67 Q5HYA8609884
No signs/symptoms info available.