All terms in DOID

Label Id Description
benzene CHEBI_16716 [A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.]
Short ribs HP_0000773
Aplasia/Hypoplasia of the ribs HP_0006712
Narrow chest HP_0000774
Thoracic hypoplasia HP_0005257
spinocerebellar ataxia 45 DOID_0080287 [An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33.]
autosomal dominant cerebellar ataxia DOID_1441 [A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.]
spinocerebellar ataxia 46 DOID_0080288 [An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.]
orofaciodigital syndrome XVII DOID_0080289 [An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.]
Abnormal rib morphology HP_0000772
silicosis DOID_10325 [A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.]
Neurodevelopmental abnormality HP_0012759
agranulocytosis DOID_12987 [A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.]
leukopenia DOID_615 [A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.]
cicatricial pemphigoid DOID_11656 [A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.]
pemphigoid DOID_0080841 [An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.]
Caplan's syndrome DOID_10326 [A pneumoconiosis that results_in humans that also have rheumatoid arthritis.]
major affective disorder 4 MIM_611247
leukostasis DOID_12986
byssinosis DOID_10323 [A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.]