Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
familial hemiplegic migraine	DOID_0060178	[A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.]
obsolete calculus of gallbladder with acute cholecystitis, with obstruction	DOID_12150
thanatophoric dysplasia	DOID_13481	[An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.]
myopathy, lactic acidosis, and sideroblastic anemia 3	DOID_0111184	[A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.]
obsolete paranoid type schizophrenia chronic state with acute exacerbation	DOID_13480
familial hemiplegic migraine 1	DOID_0111181	[A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.]
familial hemiplegic migraine 2	DOID_0111182	[A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.]
aseptic meningitis	DOID_12157	[A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.]
distal muscular dystrophy 3	DOID_0111189	[A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22.]
childhood disintegrative disease	DOID_13487	[A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.]
pervasive developmental disorder	DOID_0060040	[A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.]
arachnoiditis	DOID_12156
distal muscular dystrophy 4	DOID_0111190	[A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32.]
distal muscular dystrophy Tateyama type	DOID_0111191	[A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25.]
susceptibility to legionnaire disease	OMIM_608556
Impairment of activities of daily living	HP_0031058	[Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.]
cobblestone retinal degeneration	DOID_12166
peripheral retinal degeneration	DOID_12161
retinal lattice degeneration	DOID_12165
Blessig's cysts	DOID_12164