All terms in DOID

Label Id Description
Lesch-Nyhan syndrome DOID_1919 [A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.]
hereditary spastic paraplegia 62 DOID_0110813 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.]
obsolete alternating exotropia with A pattern DOID_1913
obsolete metastasis to vagina DOID_1912
vaginal yolk sac tumor DOID_1910 [A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.]
xeroderma pigmentosum group A DOID_0110843 [A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.]
xeroderma pigmentosum group C DOID_0110844 [A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.]
Usher syndrome type 3A DOID_0110841 [An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.]
Usher syndrome type 3B DOID_0110842 [An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31.]
dental epithelium UBERON_0003843
Usher syndrome type 2D DOID_0110840 [An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.]
aortitis DOID_519
obsolete malignant Sertoli-Leydig cell tumor DOID_0050618
obsolete malignant Sertoli cell tumor DOID_0050617
xeroderma pigmentosum group G DOID_0110849 [A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.]
xeroderma pigmentosum variant type DOID_0110847 [A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.]
xeroderma pigmentosum group F DOID_0110848 [A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.]
xeroderma pigmentosum group D DOID_0110845 [A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.]
epididymal neoplasm DOID_512
skin of trunk UBERON_0001085