All terms in DOID

Label Id Description
orofacial cleft 14 DOID_0080407 [An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.]
orofacial cleft 15 DOID_0080408 [An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.]
Childhood onset HP_0011463 [Onset of disease at the age of between 1 and 5 years.]
Fetal onset HP_0011461 [Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).]
Antenatal onset HP_0030674 [Onset prior to birth.]
Young adult onset HP_0011462 [Onset of disease at the age of between 16 and 40 years.]
obsolete Measles virus otitis media DOID_8812 [A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear.]
obsolete malignant histiocytosis involving intrathoracic lymph nodes DOID_8811
Embryonal onset HP_0011460 [Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).]
familial adenomatous polyposis 4 DOID_0080412 [A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.]
developmental and epileptic encephalopathy 18 DOID_0080413 [A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.]
developmental and epileptic encephalopathy 15 DOID_0080414 [A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.]
developmental and epileptic encephalopathy 23 DOID_0080415 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.]
Pseudocowpox virus NCBITaxon_129726
Parapoxvirus pseudocowpox NCBITaxon_3431390
familial adenomatous polyposis 2 DOID_0080410 [A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.]
familial adenomatous polyposis 3 DOID_0080411 [A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.]
developmental and epileptic encephalopathy 32 DOID_0080416 [A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.]
developmental and epileptic encephalopathy 38 DOID_0080417 [A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.]
developmental and epileptic encephalopathy 54 DOID_0080418 [A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.]