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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:childhood hypophosphatasia
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Accession:DOID:0110915 term browser browse the term
Definition:A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)
Synonyms:exact_synonym: hypophospatasia, childhood
 narrow_synonym: childhood-onset hypophosphatasia
 primary_id: MESH:C562440
 alt_id: OMIM:241510
 xref: EFO:0021432;   GARD:8735;   ORDO:247667



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childhood hypophosphatasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:241510
ClinVar Annotator: match by term: Childhood hypophosphatasia
OMIM
CTD
MouseDO
ClinVar
PMID:1409720 PMID:3174660 PMID:7833929 PMID:8675582 PMID:10094560 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      hypophosphatasia 3
        childhood hypophosphatasia 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              hypophosphatasia 3
                childhood hypophosphatasia 1
paths to the root