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RGD uses the Human Disease Ontology (DO, 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:Paganini-Miozzo syndrome
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Accession:DOID:0111843 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2. (DO)
 primary_id: OMIM:301025
For additional species annotation, visit the Alliance of Genome Resources.

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Paganini-Miozzo syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: PAGANINI-MIOZZO SYNDROME
ClinVar Annotator: match by term: Paganini-Miozzo syndrome
PMID:25741868 PMID:30471091 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Paganini-Miozzo syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 718
                        syndromic X-linked intellectual disability 590
                          Paganini-Miozzo syndrome 1
paths to the root