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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:Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases.
Synonyms:exact_synonym: Genetic Diseases, Y Chromosome Linked;   Y-Linked Genetic Disease;   Y-linked disease
 primary_id: MESH:D050174
 alt_id: RDO:0003454
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:400044
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, SRY-RELATED
OMIM
ClinVar
PMID:1339396, PMID:1415266, PMID:1438307, PMID:1483689, PMID:1570829, PMID:1619028, PMID:1639410, PMID:1734522, PMID:1956279, PMID:2247149, PMID:2247151, PMID:2401216, PMID:7718558, PMID:7985018, PMID:7987333, PMID:8019555, PMID:8105086, PMID:8257986, PMID:8353496, PMID:9150734, PMID:9443877, PMID:9450909, PMID:9521592, PMID:10843173, PMID:10852465, PMID:12107262, PMID:12409269, PMID:12793612, PMID:20528776, PMID:25741868, PMID:28492532, PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
Y-linked spermatogenic failure 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5d lysine demethylase 5D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  Y:501,058...589,267
Ensembl chr  Y:505,996...589,267
JBrowse link
G Rps4y2 ribosomal protein S4, Y-linked 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:182,745,448...182,746,381
Ensembl chr 4:182,745,448...182,746,381
JBrowse link
G Usp9y ubiquitin specific peptidase 9, Y-linked ISO ClinVar Annotator: match by OMIM:415000
ClinVar Annotator: match by term: Hypospermatogenesis, nonobstructive, Y-linked
ClinVar
OMIM
PMID:9384609, PMID:10402373, PMID:10507722, PMID:10581029, PMID:10767340, PMID:19246359 NCBI chr  Y:1,260,512...1,403,417
Ensembl chr  Y:1,258,794...1,403,422
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            Y-linked monogenic disease 4
              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 3
              retinitis pigmentosa Y-linked 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.