All terms in DOID

Label Id Description
familial restrictive cardiomyopathy 3 DOID_0111427 [A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1.]
branchiootorenal syndrome 2 DOID_0111424 [A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.]
familial restrictive cardiomyopathy 1 DOID_0111425 [A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.]
familial lipase maturation factor 1 deficiency DOID_0111422 [A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.]
branchiootorenal syndrome 1 DOID_0111423 [A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.]
familial GPIHBP1 deficiency DOID_0111420 [A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3.]
erysipeloid DOID_0050061 [A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.]
familial apolipoprotein A5 deficiency DOID_0111421 [A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3.]
essential tremor 1 DOID_0111428 [An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31.]
essential tremor 2 DOID_0111429 [An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.]
Neopterygii NCBITaxon_41665
progressive myoclonus epilepsy 8 DOID_0111451 [A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.]
Axenfeld-Rieger syndrome type 1 DOID_0110120 [An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.]
tinea barbae DOID_0050096 [A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.]
Axenfeld-Rieger syndrome type 2 DOID_0110121 [An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14.]
progressive myoclonus epilepsy 1A DOID_0111452 [An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.]
obsolete pulmonary sporotrichosis DOID_0050095 [A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.]
hemopoietic organ UBERON_0004177
obsolete Microsporum audouinii tinea capitis DOID_0050098 [An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.]
progressive myoclonus epilepsy 9 DOID_0111450 [A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.]