All terms in DOID

Label Id Description
peroxisome biogenesis disorder 2A DOID_0080477 [A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.]
obsolete localized resectable neuroblastoma DOID_4170
biphasic synovial sarcoma DOID_5492
obsolete relapsed neuroblastoma DOID_4161
differentiating neuroblastoma DOID_4160
neuroblastoma DOID_769 [An autonomic nervous system neoplasm that derives_from immature nerve cells.]
obsolete pediatric synovial sarcoma DOID_5491
epithelioid cell synovial sarcoma DOID_5494
obsolete recurrent synovial sarcoma DOID_5493
obsolete regional neuroblastoma DOID_4165
obsolete nonmetastatic synovial sarcoma DOID_5496
cerebral neuroblastoma DOID_4164 [A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.]
monophasic synovial sarcoma DOID_5495
Firstpapillomavirinae NCBITaxon_2169595
Papillomaviridae NCBITaxon_151340
obsolete Hepadnaviridae infectious disease DOID_5497 [A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.]
developmental and epileptic encephalopathy 36 DOID_0080470 [A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.]
developmental and epileptic encephalopathy 92 DOID_0080471 [A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.]
developmental and epileptic encephalopathy 91 DOID_0080472 [A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.]
developmental delay and seizures with or without movement abnormalities DOID_0080473 [A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.]