All terms in DOID

Label Id Description
hydrolethalus syndrome DOID_0050779 [A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.]
pollen NCIT_C79660 [The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust.]
age related macular degeneration 14 DOID_0110026 [An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.]
adermatoglyphia DOID_0111357 [A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3.]
hepatocyte CL_0000182
endopolyploid cell CL_0000417
arthrogryposis, renal dysfunction, and cholestasis 2 DOID_0111354 [An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.]
age related macular degeneration 11 DOID_0110023 [An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.]
age related macular degeneration 12 DOID_0110024 [An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.]
hydrolethalus syndrome 1 DOID_0111355 [A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2.]
susceptibility to dyslexia 5 MIM_606896
achromatopsia 4 DOID_0110010 [An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.]
primary failure of tooth eruption DOID_0111341 [A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.]
Rhizomelia HP_0008905
Disproportionate short-limb short stature HP_0008873
advanced sleep phase syndrome 1 DOID_0110011 [An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.]
advanced sleep phase syndrome DOID_0050628 [A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.]
dermatopathia pigmentosa reticularis DOID_0111342 [An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.]
dominant optic atrophy plus syndrome DOID_0111340 [A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.]
age related macular degeneration 6 DOID_0110018 [An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.]