Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
cataract 8 multiple types	DOID_0110228	[A cataract that has_material_basis_in variation in the region 1pter-p36.13.]
Brugada syndrome 8	DOID_0110225	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24.]
steatocystoma multiplex	DOID_0111556	[A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2.]
Charcot-Marie-Tooth disease type 2A2B	DOID_0111557	[A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22.]
Brugada syndrome 9	DOID_0110226	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.]
obsolete influenza virus encephalitis	DOID_0050191	[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.]
Brugada syndrome 6	DOID_0110223	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13.]
spondylometaphyseal dysplasia Kozlowski type	DOID_0111554	[A metaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.]
obsolete adenovirus encephalitis	DOID_0050190	[An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.]
Alkuraya-Kucinskas syndrome	DOID_0111555	[A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27.]
Brugada syndrome 7	DOID_0110224	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24.]
obsolete Lymphocytic choriomeningitis virus encephalitis	DOID_0050193	[A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.]
scapuloperoneal spinal muscular atrophy	DOID_0111552	[A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.]
Brugada syndrome 4	DOID_0110221	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.]
Nipah virus encephalitis	DOID_0050192	[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.]
spondyloepiphyseal dysplasia Maroteaux type	DOID_0111553	[An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.]
Brugada syndrome 5	DOID_0110222	[A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13.]
susceptibility to coronary heart disease 5	OMIM_608901
cataract 6 multiple types	DOID_0110229	[A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36.]
Rickettsia felis	NCBITaxon_42862