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Perinatal lethal hypophosphatasia
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Adult hypophosphatasia
Childhood-onset hypophosphatasia
Infantile hypophosphatasia
Odontohypophosphatasia
Prenatal benign hypophosphatasia
Herpetic encephalitis
Huntington disease
Juvenile Huntington disease
Anaplastic ependymoma
Giant cell glioblastoma
Gliosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Synonym(s):
- Perinatal lethal Rathburn disease
- Perinatal lethal phosphoethanolaminuria
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALPL P05186171760
No signs/symptoms info available.