All terms in DOID

Label Id Description
chromaffin cell CL_0000166
peptide hormone secreting cell CL_0000167
pituitary gland cell CL_2000004
fucosidosis DOID_14500
Sjogren-Larsson syndrome DOID_14501 [A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.]
cholesterol ester storage disease DOID_14502 [A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.]
neuronal ceroid lipofuscinosis DOID_14503
chromophobe cell CL_0000641
peripheral degeneration of cornea DOID_14507
basal cell CL_0000646
epithelial fate stem cell CL_0000036
Unusual infection HP_0032101
Ornithodoros parkeri NCBITaxon_140564
candidal paronychia DOID_14512 [A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.]
WAGR syndrome DOID_14515 [A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.]
obsolete Idiopathic cysts of iris and ciliary body DOID_14518
capillary leak syndrome DOID_14400 [A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.]
deafness, dystonia, and cerebral hypomyelination DOID_0112123 [A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28.]
obsolete cutis marmorata DOID_14401
X-linked epilepsy with variable learning disabilities and behavior disorders DOID_0112122 [An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.]