All terms in DOID

Label Id Description
early-onset epilepsy 3 DOID_0070472 [An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3.]
chromosome 1p36.33 duplication syndrome DOID_0070470 [A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.]
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DOID_0070479 [An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.]
diphthamide deficiency syndrome DOID_0070476 [An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).]
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