All terms in DOID

Label Id Description
Abnormal lung morphology HP_0002088
asthma, nasal polyps, and aspirin intolerance DOID_0111579 [A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.]
cataract 30 DOID_0110248 [A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.]
dehydrated hereditary stomatocytosis 1 DOID_0111576 [A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.]
dehydrated hereditary stomatocytosis DOID_0111575 [A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.]
cataract 38 DOID_0110245 [A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.]
cataract 26 multiple types DOID_0110246 [A cataract that has_material_basis_in variation in the region 9q13-q22.]
dehydrated hereditary stomatocytosis 2 DOID_0111577 [A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.]
cataract 46 juvenile-onset DOID_0110243 [A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.]
autosomal recessive woolly hair 3 DOID_0111574 [A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.]
hemolytic anemia DOID_583 [A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.]
cataract 28 DOID_0110244 [A cataract that has_material_basis_in variation in the region 6p12-q12.]
stiff skin syndrome DOID_0111561 [A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.]
cataract 34 multiple types DOID_0110230 [A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.]
Sabethini NCBITaxon_53549
overhydrated hereditary stomatocytosis DOID_0111562 [A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.]
cataract 1 multiple types DOID_0110231 [A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.]
Charcot-Marie-Tooth disease type 1G DOID_0111560 [A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.]
Charcot-Marie-Tooth disease type 1 DOID_0050538 [A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.]
aromatic ether CHEBI_35618