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Familial hypocalciuric hypercalcemia type 3
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Essential fructosuria
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Posterior polar cataract
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Total congenital cataract
Synonym(s):
- FHH type 3

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537147

Gene symbol UniProt reference OMIM reference
AP2S1 P53680602242
No signs/symptoms info available.