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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:30471091 NCBI chr  X:138,675,326...138,972,774
Ensembl chr  X:138,677,580...138,972,684
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Paganini-Miozzo syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              developmental disorder of mental health 3114
                specific developmental disorder 2289
                  intellectual disability 2109
                    syndromic intellectual disability 683
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 584
                          Paganini-Miozzo syndrome 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.