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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 CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
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Accession:DOID:9001167 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern.
Synonyms:exact_synonym: NEDCAFD
 primary_id: OMIM:619244



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NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc5 tetratricopeptide repeat domain 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism OMIM
ClinVar
PMID:25741868 PMID:29302074 PMID:32439809 NCBI chr15:23,993,046...24,010,710
Ensembl chr15:23,993,048...24,010,668
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            disease of mental health 8275
              Neurodevelopmental Disorders 6814
                NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM 1
paths to the root