All terms in DOID

Label Id Description
obsolete lymphocutaneous sporotrichosis DOID_0050094 [A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.]
SHORT syndrome DOID_0111454 [A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.]
Bardet-Biedl syndrome 1 DOID_0110123 [A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.]
obsolete disseminated sporotrichosis DOID_0050093 [A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.]
Ixodes holocyclus NCBITaxon_65647
Mycobacterium tuberculosis NCBITaxon_1773
Mycobacterium tuberculosis complex NCBITaxon_77643
susceptibility to acute erythroid leukemia MIM_133180
optic atrophy 4 DOID_0111440 [An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.]
obsolete entomophthoromycosis DOID_0050085 [A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.]
optic atrophy 1 DOID_0111441 [An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.]
atrial heart septal defect 5 DOID_0110110 [An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.]
obsolete rhinotracheitis DOID_0050084 [An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.]
obsolete cutaneous mucormycosis DOID_0050086 [An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.]
obsolete pulmonary mucormycosis DOID_0050089 [An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.]
obsolete gastrointestinal mucormycosis DOID_0050088 [A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.]
progressive myoclonus epilepsy 1B DOID_0111448 [An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.]
autoimmune lymphoproliferative syndrome type 4 DOID_0110117 [An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.]
progressive myoclonus epilepsy 6 DOID_0111449 [A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32.]
Leber congenital amaurosis 16 DOID_0110118 [A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.]