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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:INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
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Accession:DOID:9007858 term browser browse the term
Definition:An X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies.
Synonyms:exact_synonym: Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder;   MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2;   MRXSHD
 primary_id: OMIM:301039


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INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 OMIM
ClinVar		 PMID:25741868 PMID:26358559 PMID:31587868 NCBI chr  X:108,988,561...109,006,946
Ensembl chr  X:119,384,655...119,402,775 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      Marfan syndrome 218
        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      nervous system disease 13294
        central nervous system disease 11923
          brain disease 11205
            disease of mental health 8112
              developmental disorder of mental health 5548
                specific developmental disorder 4511
                  intellectual disability 4322
                    X-Linked Intellectual Developmental Disorders 836
                      syndromic X-linked intellectual disability 650
                        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE 1
paths to the root