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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: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)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE;   MRXSPM
 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 OMIM
ClinVar
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 18110
    syndrome 9625
      Paganini-Miozzo syndrome 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        central nervous system disease 11278
          brain disease 10564
            disease of mental health 7492
              developmental disorder of mental health 4863
                specific developmental disorder 4124
                  intellectual disability 3939
                    X-Linked Intellectual Developmental Disorders 754
                      syndromic X-linked intellectual disability 618
                        Paganini-Miozzo syndrome 1
paths to the root