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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:Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.
Synonyms:exact_synonym: MNLIX;   monilethrices;   nodose hair
 primary_id: MESH:D056734
 alt_id: OMIM:158000
 xref: GARD:93;   ICD10CM:Q84.1;   NCI:C84894
For additional species annotation, visit the Alliance of Genome Resources.


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: Monilethrix
ClinVar Annotator: match by OMIM:158000
OMIM
ClinVar
PMID:7556444, PMID:9402962, PMID:9665406, PMID:25326635, PMID:25741868 NCBI chr 7:143,107,901...143,113,006
Ensembl chr 7:143,107,901...143,112,960
JBrowse link
G Krt83 keratin 83 ISO ClinVar Annotator: match by OMIM:158000
ClinVar Annotator: match by term: Monilethrix
ClinVar Annotator: match by term: Nodose hair
OMIM
ClinVar
PMID:15744029, PMID:25557232, PMID:25741868, PMID:30311386 NCBI chr 7:143,078,996...143,085,833
Ensembl chr 7:143,078,996...143,085,833
JBrowse link
G Krt86 keratin 86 ISO ClinVar Annotator: match by term: Monilethrix
ClinVar Annotator: match by OMIM:158000
OMIM
ClinVar
PMID:7556444, PMID:9241275, PMID:9402962, PMID:9457912, PMID:9665406, PMID:9804356, PMID:10469314, PMID:10594761, PMID:10878478, PMID:15050877, PMID:15744029, PMID:19400537, PMID:25326635, PMID:25741868 NCBI chr 7:143,122,285...143,128,932
Ensembl chr 7:143,122,269...143,128,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        Genetic Skin Diseases 890
          monilethrix 3
            Trueb Burg Bottani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                monilethrix 3
                  Trueb Burg Bottani Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.