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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:hyperphosphatasia with impaired intellectual development syndrome
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Accession:DOID:0070431 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)
Synonyms:exact_synonym: HPMRS;   Mabry disease;   Mabry syndrome;   hyperphosphatasia with intellectual disability syndrome;   hyperphosphatasia with mental retardation;   hyperphosphatasia with mental retardation syndrome;   hyperphosphatasia-intellectual disability syndrome
 primary_id: MESH:C565495
 alt_id: DOID:9005046
 xref: MIM:PS239300;   ORDO:247262


show annotations for term's descendants           Sort by:
hyperphosphatasia with impaired intellectual development syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome 		CTD
ClinVar
RGD		 PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601 PMID:28390064 RGD:628374606 NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome 		CTD
ClinVar		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME 		CTD
ClinVar		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:82,632,445...82,656,323 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition 		OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 OMIM
ClinVar		 PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 More... NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 OMIM
ClinVar		 PMID:28492532 NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 OMIM
ClinVar		 PMID:26293662 NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        phosphorus metabolism disease 27
          hyperphosphatasia with impaired intellectual development syndrome 10
            hyperphosphatasia with impaired intellectual development syndrome 1 5
            hyperphosphatasia with impaired intellectual development syndrome 2 1
            hyperphosphatasia with impaired intellectual development syndrome 3 1
            hyperphosphatasia with impaired intellectual development syndrome 4 2
            hyperphosphatasia with impaired intellectual development syndrome 5 1
            hyperphosphatasia with impaired intellectual development syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    autosomal recessive intellectual developmental disorder 98
                      hyperphosphatasia with impaired intellectual development syndrome 10
                        hyperphosphatasia with impaired intellectual development syndrome 1 5
                        hyperphosphatasia with impaired intellectual development syndrome 2 1
                        hyperphosphatasia with impaired intellectual development syndrome 3 1
                        hyperphosphatasia with impaired intellectual development syndrome 4 2
                        hyperphosphatasia with impaired intellectual development syndrome 5 1
                        hyperphosphatasia with impaired intellectual development syndrome 6 1
paths to the root