Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
retinitis pigmentosa 31	DOID_0110391	[A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21.]
obsolete opportunistic microsporidia mycosis	DOID_0050287	[An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.]
retinitis pigmentosa 70	DOID_0110392	[A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32.]
obsolete opportunistic fungi incertae sedis mycosis	DOID_0050286	[An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.]
fusariosis	DOID_0050289	[An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.]
retinitis pigmentosa 1	DOID_0110390	[A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12.]
penicilliosis	DOID_0050288	[An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.]
retinitis pigmentosa 37	DOID_0110399	[A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23.]
retinitis pigmentosa 27	DOID_0110397	[A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11.]
obsolete superficial basidiomycota mycosis	DOID_0050281	[A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.]
retinitis pigmentosa 51	DOID_0110398	[A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31.]
obsolete superficial ascomycota mycosis	DOID_0050280	[A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.]
rectosigmoid junction neoplasm	DOID_2780
sigmoid neoplasm	DOID_1896
rectosigmoid cancer	DOID_2781
rectosigmoid junction cancer	DOID_2782
lung sarcoma	DOID_2784	[A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.]
Dandy-Walker syndrome	DOID_2785	[A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.]
obsolete Ciliophora infectious disease	DOID_2788	[An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia.]
tooth agenesis	DOID_0050591	[A tooth disease characterized by failure to develop on or more missing teeth.]