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neurodevelopmental disorder with poor growth and behavioral abnormalities - Ontology Report - Rat Genome Database

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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:neurodevelopmental disorder with poor growth and behavioral abnormalities
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Accession:DOID:0081444 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: NEDGBA
 primary_id: MIM:620242
 alt_id: DOID:9000845

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neurodevelopmental disorder with poor growth and behavioral abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chrNW_004624790:4,187,643...4,328,933
Ensembl chrNW_004624790:4,188,052...4,328,920 		JBrowse link
G G ATP9A ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr 2:12,216,908...12,376,887
Ensembl chr 2:12,216,930...12,376,530 		JBrowse link
G P ATP9A ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr17:52,936,169...53,072,620
Ensembl chr17:52,938,725...53,072,379 		JBrowse link
G S Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chrNW_004936514:3,341,207...3,428,948
Ensembl chrNW_004936514:3,341,426...3,424,637 		JBrowse link
G D ATP9A ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr24:37,797,150...37,912,031
Ensembl chr24:37,800,281...37,911,890 		JBrowse link
G B ATP9A ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr20:47,944,444...48,116,500
Ensembl chr20:49,067,994...49,204,871 		JBrowse link
G C Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chrNW_004955445:6,876,937...6,991,513
Ensembl chrNW_004955445:6,876,952...6,996,028 		JBrowse link
G R Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr 3:177,779,203...177,886,431
Ensembl chr 3:157,360,359...157,467,818 		JBrowse link
G M Atp9a ATPase, class II, type 9A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr 2:168,476,358...168,584,290
Ensembl chr 2:168,476,358...168,584,329 		JBrowse link
G H ATP9A ATPase phospholipid transporting 9A (putative) IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Pathologic Processes 103364
        Growth Disorders 10216
          neurodevelopmental disorder with poor growth and behavioral abnormalities 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    autosomal recessive intellectual developmental disorder 2993
                      neurodevelopmental disorder with poor growth and behavioral abnormalities 10
paths to the root