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toxic pneumonitis
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DOID_551 |
[A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.] |
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obsolete acute pyelonephritis without lesion of renal medullary necrosis
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DOID_558 |
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sudden infant death syndrome
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DOID_9007 |
[A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.] |
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inflammatory bowel disease 5
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DOID_0110889 |
[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31.] |
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gluten allergy
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DOID_0060057 |
[A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance.] |
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popliteal pterygium syndrome
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DOID_0060055 |
[A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.] |
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autonomic peripheral neuropathy
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DOID_0060054 |
[A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.] |
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psoriatic arthritis
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DOID_9008 |
[An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.] |
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obsolete peripheral neuropathy
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DOID_0060053 |
[A neuropathy that is located_in nerves of the peripheral nervous system.] |
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obsolete neurological disorder
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DOID_0060052 |
[A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.] |
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holoprosencephaly 7
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DOID_0110876 |
[A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.] |
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holoprosencephaly 11
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DOID_0110877 |
[A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.] |
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holoprosencephaly 6
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DOID_0110874 |
[A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3.] |
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holoprosencephaly 3
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DOID_0110875 |
[A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.] |
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obsolete malignant hypertensive heart disease
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DOID_548 |
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holoprosencephaly 2
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DOID_0110872 |
[A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.] |
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esophageal leukoplakia
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DOID_9021 |
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holoprosencephaly 9
|
DOID_0110873 |
[A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.] |
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obsolete reticulosarcoma involving spleen
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DOID_9020 |
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congenital stationary night blindness 1A
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DOID_0110870 |
[A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.] |