OMIA group 473
Hip dysplasia
The chain reaches the human disease 3MC syndrome 2, which Mondo defines as: “Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.” It reaches 4 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 11 species entries marked as a defect.
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Human disease
Reached
5 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 | 11 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 | 11 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 | 11 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 | 11 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 | 11 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:000473-9615 | Yes |
| domestic cat | Felis catus | OMIA:000473-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000473-9913 | Yes |
| horse | Equus caballus | OMIA:000473-9796 | Yes |
| pig | Sus scrofa | OMIA:000473-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:000473-9986 | Yes |
| raccoon dog | Nyctereutes procyonoides | OMIA:000473-34880 | Yes |
| Rhesus monkey | Macaca mulatta | OMIA:000473-9544 | Yes |
| saber-toothed cat | Smilodon fatalis | OMIA:000473-13266 | Yes |
| sheep | Ovis aries | OMIA:000473-9940 | Yes |
| Western roe deer | Capreolus capreolus | OMIA:000473-9858 | 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 |
|---|---|---|---|
| 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. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| raccoon dog | No gene | OMIA records no gene for this species entry. | |
| Rhesus monkey | No gene | OMIA records no gene for this species entry. | |
| saber-toothed cat | No gene | OMIA records no gene for this species entry. | |
| sheep | No gene | OMIA records no gene for this species entry. | |
| Western roe deer | 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009927 | 3MC syndrome 2 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. | OMIA's OMIM numbers |
| MONDO:0007729 | developmental dysplasia of the hip 1 | OMIA's OMIM numbers |
| MONDO:0014277 | developmental dysplasia of the hip 2 | OMIA's OMIM numbers |
| MONDO:0007726 | hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. | OMIA's OMIM numbers |
| MONDO:0009487 | keratoconus and congenital hip dysplasia | OMIA's OMIM numbers |
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.