All terms in DOID

Label Id Description
onset HP_0003674 [The age group in which disease manifestations appear.]
Progressive neurologic deterioration HP_0002344
Mental deterioration HP_0001268
obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum DOID_0060600
Hypopigmentation of the skin HP_0001010
alpha-2-plasmin inhibitor deficiency DOID_0060601 [A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.]
hemorrhagic disease DOID_2213
alpha-methylacyl-CoA racemase deficiency DOID_0060602 [A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.]
peroxisomal disease DOID_906 [An inherited metabolic disorder that involves peroxisome malfunction.]
isolated anhidrosis with normal sweat glands DOID_0060603 [An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.]
anhidrosis DOID_11156 [A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.]
ankyloglossia DOID_0060604 [A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.]
tongue disease DOID_10944 [A mouth disease located_in the tongue.]
Ixodida NCBITaxon_6935
Parasitiformes NCBITaxon_6934
palmoplantar keratosis DOID_3390 [A keratosis characterized by abnormal thickening of the palms and the soles.]
keratosis DOID_161 [A skin disease characterized_by growth of keratin on the skin or mucous membranes.]
Argasidae NCBITaxon_6936
Ixodoidea NCBITaxon_297308
vulvar nodular hidradenoma DOID_2060 [A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.]