All terms in DOID

Label Id Description
spindle cell synovial sarcoma DOID_5487
primary syphilis DOID_4156 [A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.]
syphilis DOID_4166 [A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.]
obsolete metastatic synovial sarcoma DOID_5486
Aplasia/Hypoplasia of the breasts HP_0010311
Abnormal breast morphology HP_0031093
hematopoietic system symptom SYMP_0019140
obsolete adult synovial sarcoma DOID_5489 [An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system.]
mediastinum synovial sarcoma DOID_5488 [A synovial sarcoma that is located_in the mediastinum.]
secondary syphilis DOID_4157 [A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.]
developmental and epileptic encephalopathy 34 DOID_0080460 [A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.]
developmental and epileptic encephalopathy 26 DOID_0080461 [A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.]
integumentary system cancer DOID_0060122 [An organ system cancer that is located_in the skin, hair and nails.]
developmental and epileptic encephalopathy 7 DOID_0080462 [A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.]
unclassified Mammarenavirus NCBITaxon_2022411
peroxisome biogenesis disorder 3A DOID_0080478 [A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.]
peroxisome biogenesis disorder 4A DOID_0080479 [A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.]
pustular psoriasis 14 DOID_0080474 [A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.]
psoriasis 2 DOID_0080475 [A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25.]
peroxisome biogenesis disorder 1A DOID_0080476 [A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.]