All terms in DOID

Label Id Description
hereditary spastic paraplegia 18 DOID_0110771 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.]
hereditary spastic paraplegia 18B DOID_0070641 [A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11.]
Pokkesviricetes NCBITaxon_2732525
Nucleocytoviricota NCBITaxon_2732007
cherubism DOID_0070648 [A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling.]
cherubism 2 DOID_0070649 [A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13.]
loss of appetite SYMP_0000309 [An alteration of appetite that is characterized by a loss of desire to eat, i.e. no desire to eat.]
alteration of appetite SYMP_0000244
multinodular and vacuolating neuronal tumor 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.]
high-grade astrocytoma with piloid features 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.]
inibility to stand SYMP_0000307
motor weakness SYMP_0000329
polymorphous low grade neuroepithelial tumour of the young 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.]
inability to swallow SYMP_0000308
spindle cell oncocytoma DOID_0081306 [A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.]
impaired gag reflex SYMP_0000305
inability to feed SYMP_0000306 [A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity.]
oculopharyngodistal myopathy 4 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.]
hypoxemia SYMP_0000303
intellectual developmental disorder with ocular anomalies and distinctive facial features 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.]