Explore Diseases
Monarch Disease integrates information from a variety of sources. Each specific page includes identifiers, nomenclature, phenotypes, variations, curated and inferred animal models, pathways, aggregated literature, and external links to relevant resources. Here we summarizes the phenotypically-curated disease data in the system.
Disease Spotlight: Angelman syndrome
- Heritability: Autosomal dominant inheritance, Sporadic
- Phenotypes: Absent speech, Blue irides, Brachycephaly, Broad-based gait, Cerebral cortical atrophy, [and 34 more...]Clumsiness, Constipation, Deeply set eye, Drooling, EEG abnormality, Exotropia, Fair hair, Feeding difficulties in infancy, Flat occiput, Global developmental delay, Hyperactivity, Hyperreflexia, Hypopigmentation of the skin, Hypoplasia of the maxilla, Intellectual disability, progressive, Intellectual disability, severe, Limb tremor, Macroglossia, Mandibular prognathia, Motor delay, Muscular hypotonia, Myopia, Nystagmus, Obesity, Paroxysmal bursts of laughter, Postnatal microcephaly, Progressive gait ataxia, Protruding tongue, Scoliosis, Seizures, Sleep-wake cycle disturbance, Strabismus, Wide mouth, Widely spaced teeth [hide]
- Genes: ANCR, ATP10A, CDKL5, CYFIP1, GABRB3, [and 5 more...]MECP2, NDN, OCA2, SNRPN, UBE3A [hide]
- Models: 137
- Publications: 9
This interactive graph displays the number of disease-phenotype associations per major disease category. You can explore the distribution of disease subtypes by clicking on the Y axis labels, or visit the disease page itself by clicking on the corresponding bar. You can navigate back to less-specific disease categories by clicking on the breadcrumbs listed in the top left-hand corner. Organisms can be added and removed from the graph by clicking on the legend labels.