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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
PMID:1409720, PMID:7833929, PMID:8406453, PMID:8954059, PMID:9452105, PMID:9618260, PMID:9781036, PMID:9814472, PMID:9844100, PMID:10094560, PMID:10332035, PMID:10508980, PMID:10636450, PMID:10679946, PMID:10839996, PMID:10872988, PMID:11438998, PMID:11479741, PMID:11745997, PMID:11760847, PMID:11855933, PMID:12162492, PMID:12357339, PMID:12412800, PMID:12638946, PMID:12920074, PMID:15135428, PMID:15137467, PMID:15660230, PMID:15671102, PMID:15694177, PMID:15794757, PMID:17213282, PMID:17229666, PMID:17719863, PMID:17916236, PMID:17922851, PMID:18455459, PMID:18769927, PMID:18821074, PMID:18925618, PMID:19232125, PMID:19335222, PMID:19500388, PMID:20739387, PMID:21168482, PMID:21228398, PMID:21713987, PMID:21956185, PMID:22397652, PMID:22913777, PMID:22995991, PMID:23688511, PMID:23791648, PMID:23926372, PMID:24022022, PMID:24033266, PMID:24100244, PMID:24276437, PMID:24334170, PMID:24569605, PMID:25023282, PMID:25716980, PMID:25731960, PMID:25736332, PMID:25741868, PMID:26219717, PMID:26272126, PMID:26432670, PMID:26432671, PMID:26467025, PMID:26783040, PMID:27179278, PMID:27466191, PMID:27699270, PMID:27884173, PMID:27920814, PMID:27998428, PMID:28127875, PMID:28401263, PMID:28436937, PMID:28492530, PMID:28492532, PMID:28506345, PMID:28580391, PMID:28663156, PMID:28802630, PMID:29236161, PMID:30293248, PMID:30311386, PMID:30755392, PMID:31600233, PMID:31787692, PMID:31905439, PMID:8406453 RGD:1599076 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27466191 NCBI chr12:39,353,613...39,396,042
Ensembl chr12:39,353,613...39,396,042
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
ClinVar Annotator: match by term: Hypophosphatasia mild
OMIM
ClinVar
PMID:1409720, PMID:8406453, PMID:8954059, PMID:9452105, PMID:9618260, PMID:9781036, PMID:9814472, PMID:10094560, PMID:10332035, PMID:10508980, PMID:10679946, PMID:10839996, PMID:10872988, PMID:11438998, PMID:11479741, PMID:11745997, PMID:11855933, PMID:12162492, PMID:12357339, PMID:12412800, PMID:12638946, PMID:12920074, PMID:15137467, PMID:15300736, PMID:15660230, PMID:15671102, PMID:15694177, PMID:17213282, PMID:17253930, PMID:17719863, PMID:17916236, PMID:17922851, PMID:18455459, PMID:18523927, PMID:18559907, PMID:18769927, PMID:18925618, PMID:19232125, PMID:19335222, PMID:19500388, PMID:20049532, PMID:20739387, PMID:21168482, PMID:21713987, PMID:22397652, PMID:22913777, PMID:23688511, PMID:24022022, PMID:24276437, PMID:24569605, PMID:25023282, PMID:25716980, PMID:25731960, PMID:25741868, PMID:26459154, PMID:26467025, PMID:26783040, PMID:27699270, PMID:27998428, PMID:28127875, PMID:28401263, PMID:28436937, PMID:28492532, PMID:28506345, PMID:28580391, PMID:29159075, PMID:29236161, PMID:29354166, PMID:29724887, PMID:30311386, PMID:30979366 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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:10094560, PMID:10332035, PMID:10679946, PMID:10839996, PMID:10872988, PMID:11438998, PMID:11479741, PMID:11855933, PMID:12357339, PMID:12815606, PMID:12920074, PMID:15671102, PMID:15694177, PMID:17253930, PMID:17719863, PMID:18340466, PMID:18559907, PMID:19232125, PMID:19335222, PMID:19500388, PMID:20739387, PMID:21168482, PMID:22397652, PMID:22913777, PMID:24022022, PMID:24276437, PMID:24378058, PMID:24569605, PMID:25716980, PMID:25731960, PMID:25741868, PMID:26783040, PMID:28127875, PMID:28492532, PMID:28506345, PMID:29236161 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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:8954059, PMID:9452105, PMID:9562633, PMID:9618260, PMID:9781036, PMID:9814472, PMID:9844100, PMID:10094560, PMID:10332035, PMID:10508980, PMID:10679946, PMID:10839996, PMID:10872988, PMID:11438998, PMID:11479741, PMID:11745997, PMID:11760847, PMID:11810413, PMID:11855933, PMID:11999978, PMID:12162492, PMID:12230456, PMID:12357339, PMID:12412800, PMID:12638946, PMID:12815606, PMID:12920074, PMID:15135428, PMID:15137467, PMID:15300736, PMID:15660230, PMID:15671102, PMID:15694177, PMID:15794757, PMID:15840803, PMID:16583935, PMID:16769381, PMID:17212778, PMID:17213282, PMID:17253930, PMID:17719863, PMID:17916236, PMID:17922851, PMID:18340466, PMID:18455459, PMID:18523927, PMID:18559907, PMID:18769927, PMID:18821074, PMID:18925618, PMID:19232125, PMID:19335222, PMID:19422434, PMID:19500388, PMID:20049532, PMID:20383509, PMID:20739387, PMID:20924064, PMID:21168482, PMID:21342251, PMID:21713987, PMID:21956185, PMID:22014174, PMID:22397652, PMID:22913777, PMID:23454488, PMID:23509830, PMID:23580367, PMID:23688511, PMID:23926372, PMID:24022022, PMID:24100244, PMID:24145968, PMID:24276437, PMID:24334170, PMID:24378058, PMID:24569605, PMID:25023282, PMID:25716980, PMID:25731960, PMID:25736332, PMID:25741868, PMID:26432670, PMID:26459154, PMID:26467025, PMID:26783040, PMID:27084188, PMID:27179278, PMID:27312557, PMID:27699270, PMID:27998428, PMID:28127875, PMID:28401263, PMID:28436937, PMID:28492532, PMID:28506345, PMID:28580391, PMID:28663156, PMID:28763161, PMID:28802630, PMID:28939177, PMID:29159075, PMID:29160033, PMID:29236161, PMID:29354166, PMID:30293248, PMID:30311386, PMID:30755392, PMID:31600233, PMID:31787692, PMID:31905439 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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: Odontohypophosphatasia
ClinVar Annotator: match by term: Low alkaline phosphatase
ClinVar PMID:1409720, PMID:10094560, PMID:10332035, PMID:10679946, PMID:10872988, PMID:11438998, PMID:11479741, PMID:11855933, PMID:12357339, PMID:12920074, PMID:15671102, PMID:17719863, PMID:18340466, PMID:19232125, PMID:19500388, PMID:20739387, PMID:21168482, PMID:24569605, PMID:25716980, PMID:25731960, PMID:25741868, PMID:28492532 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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:18925618, PMID:19232125, PMID:19500388, PMID:23688511, PMID:25731960, PMID:25741868, PMID:26467025, PMID:27699270, PMID:27998428, PMID:28401263, PMID:28436937, PMID:28492532, PMID:29236161 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      hypophosphatasia 2
        Odontohypophosphatasia 1
        Perinatal Lethal Hypophosphatasia 1
        adult hypophosphatasia 1
        childhood hypophosphatasia 1
        infantile hypophosphatasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              hypophosphatasia 2
                Odontohypophosphatasia 1
                Perinatal Lethal Hypophosphatasia 1
                adult hypophosphatasia 1
                childhood hypophosphatasia 1
                infantile hypophosphatasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.