All terms in DOID

Label Id Description
hepatic fibrosis DOID_0061215 [A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage.]
hereditary spastic paraplegia 46 DOID_0110798 [A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.]
pheochromocytoma/paraganglioma syndrome 1 DOID_0061216 [A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene.]
hereditary spastic paraplegia 43 DOID_0110795 [A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.]
pheochromocytoma/paraganglioma syndrome 2 DOID_0061217 [A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.]
hereditary spastic paraplegia 44 DOID_0110796 [A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.]
pheochromocytoma/paraganglioma syndrome 3 DOID_0061218 [A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene.]
hereditary spastic paraplegia 41 DOID_0110793 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2.]
pheochromocytoma/paraganglioma syndrome 4 DOID_0061219 [A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36.]
hereditary spastic paraplegia 42 DOID_0110794 [A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.]
branchiootic syndrome 3 DOID_0061210 [A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23.]
Lafora disease 2 DOID_0061211 [A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22.]
hypocholesteremia DOID_0061212 [A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia).]
susceptibility to atypical hemolytic uremic syndrome 1 MIM_235400
mucinous adenofibroma DOID_2700 [An adenofibroma that is characterized by the presence of mucin.]
benzo[d]isothiazol-3-one CHEBI_167099
nodular tenosynovitis DOID_2701
tomato food product FOODON_00001164
solanaceous fruit food product FOODON_00001163
plant fruit as vegetable food product FOODON_00002141