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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
hypophosphatasia +     
adult hypophosphatasia  
childhood hypophosphatasia  
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)
infantile hypophosphatasia  
Odontohypophosphatasia  
Perinatal Lethal Hypophosphatasia  

Synonyms
Exact Synonyms: hypophospatasia, childhood
Narrow Synonyms: childhood-onset hypophosphatasia
Primary IDs: MESH:C562440
Alternate IDs: OMIM:241510
Xrefs: EFO:0021432 ;   GARD:8735 ;   ORDO:247667
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1409720 "DO" "DO"

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