|
rippling muscle disease 2
|
DOID_0060255 |
[A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.] |
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scapuloperoneal myopathy
|
DOID_0060253 |
[A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.] |
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sclerocornea
|
DOID_0060252 |
[A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.] |
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partial of retinal vein occlusion
|
DOID_1726 |
|
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chlorobiphenyl
|
CHEBI_35446 |
[A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups.] |
|
idiopathic scoliosis
|
DOID_0060250 |
[A scoliosis with no known cause.] |
|
scoliosis
|
DOID_0060249 |
[A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.] |
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duodenal ulcer
|
DOID_1724 |
|
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cryptosporidiosis
|
DOID_1733 |
[A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.] |
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Mammarenavirus choriomeningitidis
|
NCBITaxon_3052303 |
|
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Mammarenavirus chapareense
|
NCBITaxon_3052302 |
|
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obsolete histoplasmosis pneumonia
|
DOID_1730 |
[A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.] |
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Simpson-Golabi-Behmel syndrome type 1
|
DOID_0060248 |
[A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.] |
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Mammarenavirus guanaritoense
|
NCBITaxon_3052307 |
|
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MASA syndrome
|
DOID_0060246 |
[A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.] |
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Mast syndrome
|
DOID_0060245 |
[A hereditary spastic paraplegia associated with dementia.] |
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obsolete disease of biological process
|
DOID_344 |
[A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms.] |
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subclavian artery aneurysm
|
DOID_342 |
|
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blepharochalasis
|
DOID_348 |
[An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.] |
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specific language impairment
|
DOID_0060244 |
[A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.] |