All terms in DOID

Label Id Description
myopathy, lactic acidosis, and sideroblastic anemia 1 DOID_0111185 [A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.]
myopathy, lactic acidosis, and sideroblastic anemia 2 DOID_0111186 [A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.]
obsolete currently pregnant habitual aborter DOID_12151
Proteus syndrome DOID_13482 [A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.]
familial hemiplegic migraine 3 DOID_0111183 [A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.]
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 myopathy 3 DOID_0111189 [A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.]
childhood disintegrative disease DOID_13487 [A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 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.]
arachnoiditis DOID_12156
distal myopathy 4 DOID_0111190 [A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.]
susceptibility to craniosynostosis 5 MIM_615529
distal myopathy Tateyama type DOID_0111191 [A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.]
cobblestone retinal degeneration DOID_12166