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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:Y-linked monogenic disease
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Accession:DOID:0050738 term browser browse the term
Definition:A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)
Synonyms:exact_synonym: Y chromosome linked genetic diseases;   Y-linked disease;   Y-linked genetic disease
 primary_id: MESH:D050174


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46,XY sex reversal 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY sex reversal 1 OMIM
ClinVar		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:465,260...465,772 JBrowse link
Y-linked spermatogenic failure 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 ClinVar PMID:1380943 PMID:1712898 PMID:1723032 PMID:1998343 PMID:11186891 More... NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Ddx3y DEAD box helicase 3, Y-linked ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:1,190,042...1,210,699
Ensembl chr  Y:1,116,309...1,135,706 		JBrowse link
G Kdm5d lysine demethylase 5D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:551,621...647,742
Ensembl chr  Y:530,401...624,018 		JBrowse link
G Rps4x-ps13 ribosomal protein S4, X-linked, pseudogene 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:183,000,913...183,001,846
Ensembl chr 4:181,269,081...181,270,349 		JBrowse link
G Usp9y ubiquitin specific peptidase 9, Y-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked | ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2		 OMIM
CTD
ClinVar		 PMID:9384609 PMID:10402373 PMID:10507722 PMID:10767340 PMID:19246359 More... NCBI chr  Y:1,156,135...1,300,965
Ensembl chr  Y:1,156,135...1,300,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            Y-linked monogenic disease 6
              46,XY sex reversal 1 1
              Hairy Ears, Y-Linked 0
              Hodgkin Disease, Y-Linked Pseudoautosomal 0
              Y-linked deafness + 0
              Y-linked spermatogenic failure 1 0
              Y-linked spermatogenic failure 2 5
              retinitis pigmentosa Y-linked 0
paths to the root