All terms in DOID

Label Id Description
obsolete eye and adnexa disease DOID_1492 [A sensory system disease that is located_in the eye or the adnexa of the eye.]
Ayme-Gripp syndrome DOID_0111688 [A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.]
retinitis pigmentosa 35 DOID_0110357 [A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22.]
obsolete corneal anesthesia and hypoesthesia DOID_1491
retinitis pigmentosa 12 DOID_0110358 [A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.]
hereditary mixed polyposis syndrome 2 DOID_0111686 [A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2.]
hereditary mixed polyposis syndrome DOID_0111684 [An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.]
retinitis pigmentosa 32 DOID_0110355 [A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13.]
Potocki-Shaffer syndrome DOID_0111687 [A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.]
retinitis pigmentosa 18 DOID_0110356 [A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.]
retinitis pigmentosa 20 DOID_0110353 [A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31.]
retinitis pigmentosa 19 DOID_0110354 [A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.]
hereditary mixed polyposis syndrome 1 DOID_0111685 [A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.]
Ehrlichia sennetsu NCBITaxon_951
retinitis pigmentosa 25 DOID_0110384 [A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12.]
obsolete single major depressive episode in full remission DOID_1469
obsolete cutaneous basidiomycota mycosis DOID_0050272 [A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.]
retinitis pigmentosa 63 DOID_0110385 [A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23.]
otitis interna DOID_3930 [An inner ear disease which involves inflammation of the inner ear.]
obsolete cutaneous ascomycota mycosis DOID_0050271 [A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.]