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ONTOLOGY REPORT - ANNOTATIONS


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: NRXN-RELATED DISORDER;   PTHSL2
 primary_id: OMIM:614325
 alt_id: DOID:9000491;   RDO:9000685
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Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      Pitt-Hopkins syndrome 4
        Pitt-Hopkins-like syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  intellectual disability 1706
                    syndromic intellectual disability 674
                      Pitt-Hopkins-like syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.