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multinodular and vacuolating neuronal tumor
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DOID_0081303 |
[A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.] |
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high-grade astrocytoma with piloid features
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DOID_0081304 |
[An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.] |
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inibility to stand
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SYMP_0000307 |
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motor weakness
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SYMP_0000329 |
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polymorphous low grade neuroepithelial tumour of the young
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DOID_0081305 |
[A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.] |
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inability to swallow
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SYMP_0000308 |
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spindle cell oncocytoma
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DOID_0081306 |
[A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.] |
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impaired gag reflex
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SYMP_0000305 |
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inability to feed
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SYMP_0000306 |
[A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity.] |
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oculopharyngodistal myopathy 4
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DOID_0081300 |
[An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24.] |
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hypoxemia
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SYMP_0000303 |
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intellectual developmental disorder with ocular anomalies and distinctive facial features
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DOID_0081301 |
[A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22.] |
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syndromic intellectual disability
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DOID_0050888 |
[An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.] |
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impaired coordination
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SYMP_0000304 |
[A coordination symptom that is characterized by weakened or imperfect body complicated movement, which may be caused by disease, injury, or toxins.] |
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diffuse leptomeningeal glioneuronal tumor
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DOID_0081302 |
[A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.] |
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mitochondrial inheritance
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GENO_0000949 |
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lymphomatoid granulomatosis
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DOID_0081307 |
[A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.] |
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grade I lymphomatoid granulomatosis
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DOID_0081308 |
[A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.] |
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grade II lymphomatoid granulomatosis
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DOID_0081309 |
[A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.] |
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Y-linked inheritance
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GENO_0000941 |
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