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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:monilethrix
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Accession:DOID:0050472 term browser browse the term
Definition:A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO)
Synonyms:exact_synonym: MNLIX;   monilethrices;   nodose hair
 primary_id: MESH:D056734
 alt_id: OMIM:158000
 xref: GARD:93;   ICD10CM:Q84.1;   NCI:C84894

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    sensory system disease 6144
      skin disease 3487
        Genetic Skin Diseases 1691
          monilethrix 0
            Trueb Burg Bottani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15960
    Pathological Conditions, Signs and Symptoms 10986
      Signs and Symptoms 9097
        Neurologic Manifestations 8801
          sensory system disease 6144
            skin disease 3487
              Genetic Skin Diseases 1691
                monilethrix 0
                  Trueb Burg Bottani Syndrome 0
paths to the root