All terms in DOID

Label Id Description
obsolete intractable epilepsy DOID_2547
obsolete intestinal pseudo-obstruction DOID_3878
diffuse alopecia areata DOID_0060157 [An alopecia areata that involves diffuse loss of hair over the whole scalp.]
Joubert syndrome 17 DOID_0110986 [A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.]
Joubert syndrome 18 DOID_0110987 [A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.]
Joubert syndrome 15 DOID_0110984 [A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.]
Joubert syndrome 16 DOID_0110985 [A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.]
Joubert syndrome 13 DOID_0110982 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.]
variola minor DOID_9153 [A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.]
Joubert syndrome 14 DOID_0110983 [A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.]
Joubert syndrome 1 DOID_0110980 [A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.]
Joubert syndrome 10 DOID_0110981 [A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.]
obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes DOID_9150
visceral leishmaniasis DOID_9146 [A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.]
leishmaniasis DOID_9065 [A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).]
pleomorphic adenoma DOID_452 [A gastrointestinal system benign neoplasm that is a located_in the salivary glands.]
obsolete Burkitt's tumor or lymphoma involving spleen DOID_9143
hard palate cancer DOID_9149
Joubert syndrome 2 DOID_0110988 [A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.]
obsolete Ascaridida infectious disease DOID_457 [A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end.]