All terms in DOID

Label Id Description
Cronkhite-Canada syndrome DOID_6225 [A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.]
CLOVES syndrome DOID_0080351 [A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.]
very high fever SYMP_0000883 [A high fever that is characterized by extremely high temperatures.]
X-linked chondrodysplasia punctata 2 DOID_0080352 [A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.]
chondrodysplasia punctata DOID_2581 [A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.]
prolonged fever SYMP_0000880 [A fever that is characterized by as persisting over a prolonged period of time.]
childhood mature teratoma of the ovary DOID_6229 [A mature teratoma of the ovary that presents in childhood.]
developmental and epileptic encephalopathy 13 DOID_0080445 [A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.]
developmental and epileptic encephalopathy 66 DOID_0080446 [A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.]
developmental and epileptic encephalopathy 43 DOID_0080447 [A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.]
developmental and epileptic encephalopathy 48 DOID_0080448 [A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.]
left upper quadrant pelvic lump SYMP_0000778
pelvic lump SYMP_0000773
developmental and epileptic encephalopathy 49 DOID_0080441 [A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.]
right upper quadrant pelvic lump SYMP_0000779
developmental and epileptic encephalopathy 41 DOID_0080442 [A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.]
epigastric pelvic lump SYMP_0000776
developmental and epileptic encephalopathy 21 DOID_0080443 [A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.]
left lower quadrant pelvic lump SYMP_0000777
developmental and epileptic encephalopathy 27 DOID_0080444 [A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.]