Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| hereditary spastic paraplegia 7 | DOID_0110816 | [A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.] |
| hereditary spastic paraplegia 72 | DOID_0110817 | [A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31.] |
| hereditary spastic paraplegia 63 | DOID_0110814 | [A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.] |
| hereditary spastic paraplegia 64 | DOID_0110815 | [A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.] |
| obsolete central nervous system AIDS arteritis | DOID_524 | [A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.] |
| hereditary spastic paraplegia 61 | DOID_0110812 | [A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.] |
| Lesch-Nyhan syndrome | DOID_1919 | |
| 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 |