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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:NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
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Accession:DOID:9008807 term browser browse the term
Definition:This disease is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, dysmorphic facial features, and brain anomalies, including ventriculomegaly and progressive white matter loss.
Synonyms:exact_synonym: NEDHAFA;   RENU;   RNU4-2-ASSOCIATED NEURODEVELOPMENTAL DISORDER;   ReNU syndrome
 xref: MIM:620851


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NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu4-2 RNA, U4 small nuclear 2 ISO ClinVar Annotator: match by term: ReNU SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr 5:124,264,229...124,264,369
Ensembl chr 5:124,264,229...124,264,369 		JBrowse link
G Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Neurodevelopmental Disorders 6942
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 2
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            disease of mental health 8412
              developmental disorder of mental health 5643
                specific developmental disorder 4601
                  communication disorder 413
                    language disorder 165
                      Language Development Disorders 68
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 2
paths to the root