OMIA group 901
XX difference of sexual development, generic
The chain reaches the human disease 46,XX disorder of sex development, which Mondo defines as: “Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.”
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 12 species entries 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.
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 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 | 12 naturally occurring species entries marked as a defect | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| Acritoscincus duperreyi | Acritoscincus duperreyi | OMIA:000901-316450 | Unknown, not counted |
| common carp | Cyprinus carpio | OMIA:000901-7962 | Yes |
| dog | Canis lupus familiaris | OMIA:000901-9615 | Yes |
| domestic cat | Felis catus | OMIA:000901-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000901-9913 | Yes |
| eastern gray kangaroo | Macropus giganteus | OMIA:000901-9317 | Yes |
| goat | Capra hircus | OMIA:000901-9925 | Yes |
| guppy | Poecilia reticulata | OMIA:000901-8081 | Yes |
| horse | Equus caballus | OMIA:000901-9796 | Yes |
| Japanese medaka | Oryzias latipes | OMIA:000901-8090 | Yes |
| llama | Lama glama | OMIA:000901-9844 | Yes |
| pig | Sus scrofa | OMIA:000901-9823 | Yes |
| red kangaroo | Osphranter rufus | OMIA:000901-9321 | Yes |
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 |
|---|---|---|---|
| common carp | No gene | OMIA records no gene for this species entry. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| eastern gray kangaroo | No gene | OMIA records no gene for this species entry. | |
| goat | No gene | OMIA records no gene for this species entry. | |
| guppy | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| Japanese medaka | No gene | OMIA records no gene for this species entry. | |
| llama | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| red kangaroo | No gene | OMIA records no gene for this species entry. | |
| Acritoscincus duperreyi 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:0017576 | 46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. | 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.