Comparative

Human disease

Chiari malformation type II

MONDO:0008816

Mondo defines it as: “Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.”

2 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.

Animal diseases

By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.

OMIA group Name Found by Species The chain reached Score
61 Arnold-Chiari malformation OMIA's OMIM numbers 6 Human disease 15.0
1264 Hydromelia OMIA's OMIM numbers 1 Human disease 9.0

Human genes

Each human gene of these disease groups that Open Targets links to this disease.

Open Targets links none of these groups' human genes to this disease.

Drugs tested for this disease

Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.

No drug has been tested for this disease.