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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


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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:25741868 PMID:30239107 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
paths to the root