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Sandhoff disease
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DOID_3323 |
[A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.] |
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obsolete relapsed retinoblastoma
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DOID_4655 |
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mood disorder
|
DOID_3324 |
[A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.] |
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necrosis
|
SYMP_0000132 |
[Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease).] |
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hyperglobulinemic purpura
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DOID_3325 |
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severe necrosis
|
SYMP_0000133 |
|
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extraocular retinoblastoma
|
DOID_4656 |
[A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.] |
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severe headache
|
SYMP_0000130 |
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headache
|
SYMP_0000504 |
[A pain that is characterized by a pain in the head.] |
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extracutaneous mastocytoma
|
DOID_4659 |
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systemic mastocytosis
|
DOID_349 |
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mast cell neoplasm
|
DOID_3664 |
[A hematologic cancer that has_material_basis_in mast cells.] |
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partial motor epilepsy
|
DOID_3327 |
|
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focal epilepsy
|
DOID_2234 |
[An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.] |
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severe joint pain
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SYMP_0000131 |
[A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe).] |
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joint pain
|
SYMP_0000064 |
[A pain that is characterized by a pain situated, or occurring, in or around a joint.] |
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temporal lobe epilepsy
|
DOID_3328 |
[A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.] |
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obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres
|
DOID_5989 |
|
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benign mastocytoma
|
DOID_4658 |
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cell type benign neoplasm
|
DOID_0060084 |
[A benign neoplasm that is classified by the type of cell or tissue from which it is derived.] |