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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


show annotations for term's descendants           Sort by:
monilethrix term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt81 keratin 81 ISO ClinVar Annotator: match by term: Nodose hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7556444 PMID:9241275 PMID:9402962 PMID:9457912 PMID:9665406 More... NCBI chr 7:132,577,112...132,582,238
Ensembl chr 7:132,576,492...132,582,170 		JBrowse link
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Nodose hair
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15744029 PMID:25557232 PMID:25741868 PMID:28492532 NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799 		JBrowse link
G Krt86 keratin 86 ISO ClinVar Annotator: match by term: Nodose hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7556444 PMID:9241275 PMID:9402962 PMID:9457912 PMID:9665406 More... NCBI chr 7:132,591,489...132,598,142
Ensembl chr 7:132,591,545...132,598,021 		JBrowse link
G Krt87 keratin 87 ISO ClinVar Annotator: match by term: Nodose hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15744029 PMID:25557232 PMID:25741868 PMID:28492532 NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Genetic Skin Diseases 1850
          monilethrix 4
            Trueb Burg Bottani Syndrome 0
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
              Genetic Skin Diseases 1850
                monilethrix 4
                  Trueb Burg Bottani Syndrome 0
paths to the root