OMIA group 2982
Aneuploidy, trisomy, sex chromosome XXY
The chain reaches the human disease Klinefelter syndrome, which Mondo defines as: “A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
34.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| Agile wallaby | Notamacropus agilis | OMIA:002982-9313 | Yes |
| dog | Canis lupus familiaris | OMIA:002982-9615 | Unknown, not counted |
| domestic cat | Felis catus | OMIA:002982-9685 | Unknown, not counted |
| domestic cattle | Bos taurus | OMIA:002982-9913 | Unknown, not counted |
| horse | Equus caballus | OMIA:002982-9796 | Unknown, not counted |
| pig | Sus scrofa | OMIA:002982-9823 | Unknown, not counted |
| sheep | Ovis aries | OMIA:002982-9940 | Unknown, not counted |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| Agile wallaby | No gene | OMIA records no gene for this species entry. | |
| dog Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| domestic cat Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| domestic cattle Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| horse Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| pig Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| sheep Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: OMIA gives the group no OMIM number marked as a trait.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0006823 | Klinefelter syndrome A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. | OMIA's own Mondo link |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.