All terms in DOID

Label Id Description
cryptorchidism DOID_11383
autosomal recessive distal hereditary motor neuronopathy 7 DOID_0081426 [An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36.]
corneal neovascularization DOID_11382
autosomal recessive distal hereditary motor neuronopathy 8 DOID_0081427 [An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.]
familial focal epilepsy with variable foci 1 DOID_0081421 [A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.]
familial focal epilepsy with variable foci 2 DOID_0081422 [A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21.]
familial focal epilepsy with variable foci 3 DOID_0081423 [A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13.]
obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium DOID_10059
subdural empyema DOID_11389 [A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space.]
autosomal recessive distal hereditary motor neuronopathy 9 DOID_0081428 [An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12.]
autosomal recessive distal hereditary motor neuronopathy 10 DOID_0081429 [An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32.]
epidural abscess DOID_11387 [A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges).]
Abnormal volitional state HP_0025780
Abnormal affect HP_0025766
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen DOID_8980
pulmonary type ovarian small cell carcinoma DOID_7650 [An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.]
ovarian small cell carcinoma DOID_6179 [An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.]
tibial adamantinoma DOID_6322 [An adamantinoma of long bone that is located_in the tibia.]
long bone adamantinoma DOID_2775 [An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.]
small-cell carcinoma of the ovary of hypercalcemic type DOID_7651 [An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.]