All terms in DOID

Label Id Description
X-linked dyserythropoietic anemia DOID_0112156 [An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.]
Brucella melitensis brucellosis DOID_14456 [A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain.]
brucellosis DOID_11077 [A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.]
inflammatory bowel disease 29 DOID_0112155 [An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1.]
obsolete deficiency anemia DOID_13121
Brucella abortus brucellosis DOID_14457 [A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia.]
inflammatory bowel disease 30 DOID_0112154 [An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.]
protein-deficiency anemia DOID_13120 [A nutritional deficiency disease that is characterized by inadequate protein intake.]
hypomyelinating leukodystrophy 20 DOID_0112153 [A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.]
hemangioma of orbit DOID_14459
CHIME syndrome DOID_0112152 [A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.]
corpus callosum agenesis-abnormal genitalia syndrome DOID_0112151 [A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.]
X-linked spondyloepimetaphyseal dysplasia DOID_0112150 [A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.]
severe pre-eclampsia DOID_13129 [A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.]
gonococcal spondylitis DOID_13127
hyperkalemic periodic paralysis DOID_14451
hypokalemic periodic paralysis DOID_14452
autosomal dominant nonsyndromic deafness 78 DOID_0112159 [An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.]
farmer's lung DOID_14453 [An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.]
De Sanctis-Cacchione syndrome DOID_0112158 [A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.]