All terms in DOID

Label Id Description
Abnormality of the male genitalia HP_0010461
Abnormal external genitalia morphology HP_0000811
interchromosomal_translocation SO_0002060
chromosomal_translocation SO_1000044
toothache SYMP_0000438 [A pain that is characterized by a pain in, or about, a tooth or teeth.]
paresthesia SYMP_0000435 [A skin and integumentary tissue symptom that is characterized by a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root.]
tethered spinal cord syndrome DOID_1089
abnormal vaginal bleeding SYMP_0000436 [A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly.]
meningocele DOID_1088 [A spina bifida that is characterized by herniation of the meninges between the vertebrae.]
spina bifida DOID_0080016 [A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.]
interstitial lung disease 2 DOID_0060971 [An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.]
renal hypomagnesemia 7, with or without dilated cardiomyopathy DOID_0060972 [A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.]
obsolete congenital chromosomal disease DOID_1086
WHIM syndrome 2 DOID_0060973 [An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.]
Edwards syndrome DOID_1085 [A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.]
autosomal recessive Robinow syndrome 2 DOID_0060974 [A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.]
polycystic liver disease 2 DOID_0060975 [A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.]
polycystic liver disease 3 DOID_0060976 [A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14.]
dirofilariasis DOID_1082 [A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.]
filariasis DOID_1080 [A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.]