All terms in DOID

Label Id Description
xeroderma pigmentosum group E DOID_0110846 [A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.]
gallbladder carcinoma in situ DOID_0050612 [An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.]
pharynx carcinoma in situ DOID_0050611 [An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.]
bronchus carcinoma in situ DOID_0050614 [An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.]
bile duct carcinoma in situ DOID_0050613 [An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.]
obsolete malignant Leydig cell tumor DOID_0050616
Usher syndrome type 1F DOID_0110832 [An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.]
adjustment disorder DOID_507 [A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.]
Usher syndrome type 1E DOID_0110833 [An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.]
Usher syndrome type 1C DOID_0110830 [An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.]
hobnail hemangioma DOID_505
Usher syndrome type 1D DOID_0110831 [An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.]
acrokeratosis verruciformis DOID_0050606 [A keratosis that has_material_basis_in mutations in the ATP2A2 gene.]
Usher syndrome type 2A DOID_0110838 [An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.]
Askin's tumor DOID_0050608 [An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.]
Usher syndrome type 2C DOID_0110839 [An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.]
obsolete Usher syndrome type 1J DOID_0110836 [An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.]
Usher syndrome type 1K DOID_0110837 [An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.]
Usher syndrome type 1G DOID_0110834 [An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.]
central nervous system hemangioma DOID_501