OMIA group 779
Patent ductus arteriosus
The chain reaches the human disease Char syndrome, which Mondo defines as: “Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.” It reaches 3 more human diseases, listed below.
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 7 species entries marked as a defect.
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Human disease
Reached
4 Mondo diseases.
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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 | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
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 | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
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 | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
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 | 7 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 |
|---|---|---|---|
| chicken | Gallus gallus | OMIA:000779-9031 | Yes |
| dog | Canis lupus familiaris | OMIA:000779-9615 | Yes |
| domestic cat | Felis catus | OMIA:000779-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000779-9913 | Yes |
| horse | Equus caballus | OMIA:000779-9796 | Yes |
| Japanese macaque | Macaca fuscata | OMIA:000779-9542 | Yes |
| sheep | Ovis aries | OMIA:000779-9940 | 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 |
|---|---|---|---|
| chicken | 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. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| Japanese macaque | No gene | OMIA records no gene for this species entry. | |
| sheep | 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: found a disease.
The two routes found different diseases. OMIA's own link is broader: its disease is a parent of one the OMIM numbers found.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0008209 | Char syndrome Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. | OMIA's OMIM numbers |
| MONDO:0012853 | Fontaine progeroid syndrome A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. | OMIA's OMIM numbers |
| MONDO:0009467 | natal teeth-intestinal pseudoobstruction-patent ductus syndrome | OMIA's OMIM numbers |
| MONDO:0011827 | patent ductus arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. | 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.