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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 syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. (DO)
Synonyms:exact_synonym: deficiency of alkaline phosphatase;   hypophosphatasias
 narrow_synonym: ALPL-RELATED DISORDER
 related_synonym: DECREASED CIRCULATING ALKALINE PHOSPHATASE ACTIVITY
 xref: GARD:6734;   ICD10CM:E83.39;   MESH:D007014;   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: ALPL-related disorder | ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity | ClinVar Annotator: match by term: Hypophosphatasia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1409720 PMID:3174660 PMID:3532105 PMID:7833929 PMID:8406453 More... RGD:1599076 NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Hypophosphatasia ClinVar PMID:19865097 PMID:21541274 PMID:25741868 PMID:28492532 PMID:31077556 NCBI chr 1:116,252,026...116,581,838
Ensembl chr 1:116,251,796...116,581,838 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27466191 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193 		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
ISS 		ClinVar Annotator: match by term: Adult hypophosphatasia
OMIM:146300
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:3532105 PMID:7833929 PMID:8406453 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		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
ISS 		ClinVar Annotator: match by term: Childhood hypophosphatasia
OMIM:241510
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:8675582 PMID:10094560 PMID:10332035 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		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
ISS 		ClinVar Annotator: match by term: Infantile hypophosphatasia
OMIM:241500
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1409720 PMID:3174660 PMID:3532105 PMID:7833929 PMID:8406453 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Infantile hypophosphatasia ClinVar PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		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 term: Odontohypophosphatasia ClinVar PMID:1409720 PMID:8675582 PMID:9781036 PMID:10094560 PMID:10332035 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		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: Perinatal lethal hypophosphatasia ClinVar PMID:3174660 PMID:9781036 PMID:10679946 PMID:11745997 PMID:16199547 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      hypophosphatasia 4
        Odontohypophosphatasia 1
        Perinatal Lethal Hypophosphatasia 1
        adult hypophosphatasia 1
        childhood hypophosphatasia 1
        infantile hypophosphatasia 2
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          monogenic disease 4758
            autosomal genetic disease 4325
              hypophosphatasia 4
                Odontohypophosphatasia 1
                Perinatal Lethal Hypophosphatasia 1
                adult hypophosphatasia 1
                childhood hypophosphatasia 1
                infantile hypophosphatasia 2
paths to the root