All terms in DOID

Label Id Description
obsolete Measles virus infectious disease DOID_0050309 [A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.]
autosomal recessive nonsyndromic deafness 97 DOID_0110539 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31.]
autosomal recessive nonsyndromic deafness 93 DOID_0110537 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13.]
nonphotosensitive trichothiodystrophy 5 DOID_0111868 [A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.]
autosomal recessive nonsyndromic deafness 96 DOID_0110538 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13.]
photosensitive trichothiodystrophy 2 DOID_0111869 [A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.]
obsolete Varicellovirus infectious disease DOID_0050302 [A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.]
obsolete Polyomaviridae infectious disease DOID_0050301 [A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.]
aniseikonia DOID_0050304 [A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.]
obsolete DNA repair deficiency DOID_2961 [A monogenic disease that results from a reduced functionality of DNA repair.]
skeletal tuberculosis DOID_1639 [An extrapulmonary tuberculosis that results in formation of lesions located in bone.]
obsolete Hepacivirus infectious disease DOID_0050303 [A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.]
central nervous system tuberculosis DOID_1638 [An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.]
obsolete familial abdominal aortic aneurysm DOID_0050306
breast angiomatosis DOID_1637 [A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.]
obsolete Arteriviridae infectious disease DOID_0050305 [A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.]
Alkhumra hemorrhagic fever DOID_0050308 [A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever.]
obsolete Bornaviridae infectious disease DOID_0050307 [A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.]
autosomal dominant nonsyndromic deafness 30 DOID_0110560 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26.]
Diamond-Blackfan anemia 20 DOID_0111891 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3.]