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otosclerosis 1
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DOID_0060920 |
[An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.] |
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otosclerosis 2
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DOID_0060921 |
[An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.] |
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otosclerosis 3
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DOID_0060922 |
[An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.] |
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otosclerosis 4
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DOID_0060923 |
[An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.] |
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persistent vegetative state
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SYMP_0000481 |
[An alteration of consciousness that is characterized by an individual with severe brain damage being in a state of partial arousal rather than true awareness. After four weeks in a vegetative state, the patient is classified as being in a persistent vegetative state. After three months in the US and six months in the UK, the diagnosis is classified as a permanent vegetative state after a non-traumatic brain injury, or, one year after a traumatic injury.] |
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obsolete Vibrio cholerae O1 biovar El Tor cholera
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DOID_2381 |
[A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.] |
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kernicterus
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DOID_2382 |
[A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.] |
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neonatal jaundice
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DOID_2383 |
[A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.] |
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Wernicke encephalopathy
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DOID_2384 |
[A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).] |
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obsolete thiamine deficiency
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DOID_2385 |
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abnormal bowel sound
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SYMP_0000489 |
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renal artery disease
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DOID_2388 |
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obsolete fibromuscular dysplasia
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DOID_2389 |
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dysuria
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SYMP_0000485 |
[A urinary system symptom that is characterized by the difficult, or painful, discharge of urine.] |
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Abnormality of the female genitalia
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HP_0010460 |
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Abnormal internal genitalia
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HP_0000812 |
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left lower quadrant abdominal tenderness
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SYMP_0000483 |
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familial periodic paralysis
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DOID_1029 |
[A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.] |
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Tall stature
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HP_0000098 |
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tuberculoid leprosy
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DOID_1025 |
[A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.] |