Comparative

OMIA group 1184

Hypophosphataemia

The chain reaches the human disease autosomal dominant hypophosphatemic rickets, which Mondo defines as: “Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.” It reaches 5 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.

  1. Animal disease

    Reached

    OMIA records it in 2 species entries marked as a defect.

  2. Human disease

    Reached

    6 Mondo diseases.

  3. Human gene

    Stopped here

    No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

  4. Target evidence

    Not reached

    The chain stopped before this step.

  5. 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.

X-linked dominant hypophosphatemic rickets

37.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10
hereditary hypophosphatemic rickets with hypercalciuria

19.5 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 early phase 1 for this disease 7.5 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 2 naturally occurring species entries marked as a defect 7.0 of 10
autosomal dominant hypophosphatemic rickets

12.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10
hypophosphatemia, renal, with intracerebral calcifications

12.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10
hypophosphatemic bone disease

12.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10
hypophosphatemic rickets, autosomal recessive, 1

12.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
domestic cat Felis catus OMIA:001184-9685 Yes
domestic cattle Bos taurus OMIA:001184-9913 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
domestic cat No gene OMIA records no gene for this species entry.
domestic cattle 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.

Mondo disease Name Found by
MONDO:0008660 autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. OMIA's OMIM numbers
MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. OMIA's OMIM numbers
MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications OMIA's OMIM numbers
MONDO:0007799 hypophosphatemic bone disease OMIA's OMIM numbers
MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. OMIA's OMIM numbers
MONDO:0010619 X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. 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.