All terms in DOID

Label Id Description
Diamond-blackfan anemia 3 DOID_0111887 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3.]
autosomal dominant nonsyndromic deafness 27 DOID_0110556 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1.]
Diamond-Blackfan anemia 9 DOID_0111884 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.]
autosomal dominant nonsyndromic deafness 23 DOID_0110553 [An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.]
Diamond-Blackfan anemia 2 DOID_0111885 [A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22.]
autosomal dominant nonsyndromic deafness 24 DOID_0110554 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter.]
Diamond-Blackfan anemia 12 DOID_0111882 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2.]
autosomal dominant nonsyndromic deafness 21 DOID_0110551 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3.]
autosomal dominant nonsyndromic deafness 22 DOID_0110552 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.]
Diamond-Blackfan anemia 5 DOID_0111883 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29.]
autosomal dominant nonsyndromic deafness 2B DOID_0110559 [An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.]
obsolete physical disorder OBSOLETED TERM DOID_0050324 [A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).]
obsolete primary Coxiellaceae infectious disease DOID_0050323
obsolete genetic disorder DOID_0050325 [A medical disorder that is an illness caused by abnormalities in genes or chromosomes.]
benign eccrine breast spiradenoma DOID_1616 [A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).]
obsolete peripheral dysostosis DOID_0050327
bronchiolitis DOID_2942 [A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.]
male breast cancer DOID_1614 [A breast cancer that occurs in males.]
obsolete Poxviridae infectious disease DOID_2943 [A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses.]
obsolete mental disorder DOID_0050329 [A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.]