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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 POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES
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Accession:DOID:9009321 term browser browse the term
Definition:This disease is a severe autosomal recessive disorder with onset of symptoms in infancy. Affected individuals have poor overall growth (microcephaly, short stature), dysmorphic facies, delayed motor development with ataxic or spastic gait, and impaired intellectual development with absent speech.
Synonyms:exact_synonym: NEDGSAF
 xref: MIM:621067


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NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies ClinVar
OMIM		 PMID:37943610 NCBI chr 6:116,466,163...116,510,436
Ensembl chr 6:116,466,163...116,510,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  communication disorder 240
                    speech disorder 50
                      NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES 1
paths to the root