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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:Tessadori-van Haaften Neurodevelopmental Syndrome 4
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Accession:DOID:9006342 term browser browse the term
Definition:Characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Caused by heterozygous mutation in the H4C9 gene on chromosome 6p21.
Synonyms:exact_synonym: TEVANED4
 primary_id: OMIM:619951


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Tessadori-van Haaften Neurodevelopmental Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2bc12 H2B clustered histone 12 ISO ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 ClinVar PMID:35202563 NCBI chr17:42,485,699...42,486,162 JBrowse link
G Hist1h4b histone cluster 1 H4 family member B ISO ClinVar Annotator: match by term: Tessadori-Van Haaften neurodevelopmental syndrome 4 OMIM
ClinVar		 PMID:35202563 NCBI chr17:42,480,467...42,484,912
Ensembl chr17:42,480,313...42,485,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        Tessadori-van Haaften Neurodevelopmental Syndrome 2
          Tessadori-van Haaften Neurodevelopmental Syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              Neurodevelopmental Disorders 6831
                Tessadori-van Haaften Neurodevelopmental Syndrome 2
                  Tessadori-van Haaften Neurodevelopmental Syndrome 4 2
paths to the root