Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
GM1 gangliosidosis type 3	DOID_0080489	[A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.]
Palmoplantar hyperkeratosis	HP_0000972	[Hyperkeratosis affecting the palm of the hand and the sole of the foot.]
Plantar hyperkeratosis	HP_0007556	[Hyperkeratosis affecting the sole of the foot.]
Palmar hyperkeratosis	HP_0010765	[Hyperkeratosis affecting the palm of the hand.]
peroxisome biogenesis disorder 11A	DOID_0080485	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.]
peroxisome biogenesis disorder 12A	DOID_0080486	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.]
peroxisome biogenesis disorder 13A	DOID_0080487	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.]
trimellitic anhydride	CHEBI_53050	[A 2-benzofuran compound having oxo groups at the 1- and 3-positions and a carboxy substituent at the 5-position; the cyclic anhydride formed from the carboxy groups at the 1- and 2-positions of trimellitic acid.]
cyclic dicarboxylic anhydride	CHEBI_36609	[An acid anhydride derived by loss of water between two carboxylic groups in the same molecule so as to close a ring.]
2-benzofurans	CHEBI_38831
dioxo monocarboxylic acid	CHEBI_35951	[Any monocarboxylic acid containing two ketonic or aldehydic oxo groups.]
obsolete localized unresectable neuroblastoma	DOID_4172
obsolete disseminated neuroblastoma	DOID_4173
blood group incompatibility	DOID_4176
Rh isoimmunization	DOID_4175
peroxisome biogenesis disorder 6A	DOID_0080481	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.]
peroxisome biogenesis disorder 7A	DOID_0080482	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.]
peroxisome biogenesis disorder 8A	DOID_0080483	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.]
peroxisome biogenesis disorder 10A	DOID_0080484	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.]
Hypohidrosis or hyperhidrosis	HP_0007550