All terms in DOID

Label Id Description
adult medulloblastoma DOID_3864
splenic infarction DOID_2533
familial hypercholanemia 3 DOID_0061180 [A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31.]
adult central nervous system embryonal tumor DOID_3865 [A central nervous system embryonal tumor that occurs in adults.]
familial hypercholanemia 1 DOID_0061181 [A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.]
obsolete desmoplastic medulloblastoma DOID_3866
familial hypercholanemia 2 DOID_0061182 [A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.]
Rett syndrome DOID_1206 [A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.]
obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma DOID_3867
chronic inflammatory demyelinating polyneuritis DOID_2536
obsolete Tympanosclerosis of tympanic membrane only DOID_1215
obsolete aggravated epilepsy DOID_2549
tympanosclerosis DOID_1214
mast cell CL_0000097
histamine secreting cell CL_0002274
obsolete Tympanosclerosis of tympanic membrane and ossicles DOID_1213
meninx of spinal cord UBERON_0003292
transient neonatal diabetes mellitus 3 DOID_0061172 [A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.]
transient neonatal diabetes mellitus DOID_0060334 [A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.]
transient neonatal diabetes mellitus 1 DOID_0061173 [A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI.]