Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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.]
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.]
mediastinum synovial sarcoma	DOID_5488	[A synovial sarcoma that is located_in the mediastinum.]
early infantile epileptic encephalopathy 34	DOID_0080460	[An early infantile 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.]
early infantile epileptic encephalopathy 26	DOID_0080461	[An early infantile epileptic encephalopathy 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.]
early infantile epileptic encephalopathy 7	DOID_0080462	[An early infantile 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.]
Pyoderma	HP_0000999	[Any manifestation of a skin disease associated with the production of pus.]
Recurrent bacterial skin infections	HP_0005406	[Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.]
peroxisome biogenesis disorder 3A	DOID_0080478	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.]
peroxisome biogenesis disorder 4A	DOID_0080479	[A peroxisomal biogenesis disorder 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 peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.]
peroxisome biogenesis disorder 2A	DOID_0080477	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.]
obsolete localized resectable neuroblastoma	DOID_4170
biphasic synovial sarcoma	DOID_5492
obsolete relapsed neuroblastoma	DOID_4161
differentiating neuroblastoma	DOID_4160