All terms in DOID

Label Id Description
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 the MFN2 gene on chromosome 1p36.22.]
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.]
spondylometaphyseal dysplasia Kozlowski type DOID_0111554 [A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.]
Brugada syndrome 6 DOID_0110223 [A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13.]
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 the KIAA1109 gene 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 the TRPV4 gene 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 (Henipavirus nipahense), 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.]
Brugada syndrome 5 DOID_0110222 [A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13.]
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 the TRPV4 gene on chromosome 12q24.11.]
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
obsolete Measles virus encephalitis DOID_0050184 [A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.]
Culex <subgenus> NCBITaxon_53527
Culex <genus> NCBITaxon_7174
obsolete Epstein-Barr virus encephalitis DOID_0050183 [An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.]
prolidase deficiency DOID_0111540 [An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.]