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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 Alopecia and Brain Abnormalities
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Accession:DOID:9003013 term browser browse the term
Synonyms:exact_synonym: BABS;   Bachmann-Bupp syndrome;   NEDABA;   Neurodevelopmental disorder with alopecia and brain imaging abnormalities
 primary_id: OMIM:619075
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Alopecia and Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ALOPECIA AND BRAIN ABNORMALITIES OMIM
ClinVar
PMID:30239107 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            hair disease 242
              hypotrichosis 117
                alopecia 81
                  Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
paths to the root