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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
paths to the root