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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:hypophosphatasia
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Accession:DOID:14213 term browser browse the term
Definition:A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Synonyms:exact_synonym: deficiency of alkaline phosphatase;   hypophospatasia, childhood;   hypophosphatasias
 primary_id: MESH:D007014
 xref: GARD:6734;   ICD10CM:E83.39;   NCI:C26798;   ORDO:436
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO ClinVar Annotator: match by term: Hypophosphatasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... RGD:1599076 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27466191 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
JBrowse link
adult hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Adult hypophosphatasia OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:8406453 PMID:8954059 PMID:9452105 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
childhood hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Childhood hypophosphatasia OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:8675582 PMID:10094560 PMID:10332035 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
infantile hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Infantile hypophosphatasia
ClinVar Annotator: match by OMIM:241500
OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Infantile hypophosphatasia ClinVar NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
Odontohypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Low alkaline phosphatase
ClinVar Annotator: match by term: Odontohypophosphatasia
ClinVar PMID:1409720 PMID:8675582 PMID:10094560 PMID:10332035 PMID:10679946 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
Perinatal Lethal Hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Hypophosphatasia, perinatal lethal ClinVar PMID:3174660 PMID:9781036 PMID:10679946 PMID:11745997 PMID:16199547 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      hypophosphatasia 3
        Odontohypophosphatasia 1
        Perinatal Lethal Hypophosphatasia 1
        adult hypophosphatasia 1
        childhood hypophosphatasia 1
        infantile hypophosphatasia 2
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              hypophosphatasia 3
                Odontohypophosphatasia 1
                Perinatal Lethal Hypophosphatasia 1
                adult hypophosphatasia 1
                childhood hypophosphatasia 1
                infantile hypophosphatasia 2
paths to the root