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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:Pitt-Hopkins-like syndrome 2
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Accession:DOID:0111332 term browser browse the term
Definition:A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3. (DO)
Synonyms:exact_synonym: PTHSL2
 broad_synonym: NRXN-related disorder
 primary_id: OMIM:614325
For additional species annotation, visit the Alliance of Genome Resources.


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Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by OMIM:614325
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
OMIM
ClinVar
PMID:2504536, PMID:17034946, PMID:18179900, PMID:18414213, PMID:19896112, PMID:20347009, PMID:20848651, PMID:21288692, PMID:21424692, PMID:21681106, PMID:21827697, PMID:21964664, PMID:22405623, PMID:22504536, PMID:22617343, PMID:23207424, PMID:23472757, PMID:23495017, PMID:23533028, PMID:23849776, PMID:24832020, PMID:25149956, PMID:25326635, PMID:25614873, PMID:25661985, PMID:25741868, PMID:26325558, PMID:26467025, PMID:26742492, PMID:27195815, PMID:28289584, PMID:28492532, PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Pitt-Hopkins syndrome 6
        Pitt-Hopkins-like syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Pitt-Hopkins-like syndrome 2 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.