All terms in DOID

Label Id Description
diphthamide deficiency syndrome 1 DOID_0070477 [A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.]
Panarthropoda NCBITaxon_88770
diphthamide deficiency syndrome 2 DOID_0070478 [A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.]
Crustacea NCBITaxon_6657
SMARCB1-deficient renal medullary carcinoma DOID_0070475 [A renal cell carcinoma that develops in the renal medulla.]
Graves ophthalmopathy DOID_0081120 [An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.]
autoimmune disease of eyes, ear, nose and throat DOID_0060030 [An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.]
inclusion body myopathy and brain white matter abnormalities DOID_0081121 [An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.]
inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID_0050881 [A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.]
Catel Manzke syndrome DOID_0081122 [A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.]
Solanaceae NCBITaxon_4070
Solanales NCBITaxon_4069
retinal macular dystrophy 3 DOID_0070440 [A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1.]
retinal macular dystrophy DOID_0070438 [A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.]
Salmoninae NCBITaxon_504568
Salmonidae NCBITaxon_8015
retinal macular dystrophy 4 DOID_0070441 [A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21.]
choroid plexus UBERON_0001886
vascular plexus UBERON_0005629
brain ventricle/choroid plexus UBERON_0003947