All terms in DOID

Label Id Description
frontonasal dysplasia 2 DOID_0081046 [A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.]
frontonasal dysplasia DOID_0081044 [A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.]
frontonasal dysplasia 3 DOID_0081047 [A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.]
congenital limbs-face contractures-hypotonia-developmental delay syndrome DOID_0081048 [A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.]
hepatosplenic T-cell lymphoma DOID_0081049 [A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.]
mature T-cell and NK-cell lymphoma DOID_0050743 [A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.]
progressive leukoencephalopathy with ovarian failure DOID_0070396 [An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.]
hypomyelinating leukodystrophy 23 DOID_0070397 [A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life.]
developmental and epileptic encephalopathy 108 DOID_0070394 [A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.]
developmental and epileptic encephalopathy 110 DOID_0070395 [A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.]
developmental and epileptic encephalopathy 106 DOID_0070392 [A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35.]
developmental and epileptic encephalopathy 107 DOID_0070393 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.]
Orthobunyavirus NCBITaxon_11572
Peribunyaviridae NCBITaxon_1980416
Poxviridae NCBITaxon_10240
developmental and epileptic encephalopathy 104 DOID_0070390 [A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.]
Chitovirales NCBITaxon_2732527
developmental and epileptic encephalopathy 105 DOID_0070391 [A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.]
Cowpox virus NCBITaxon_10243
Orthopoxvirus cowpox NCBITaxon_3431481