All terms in DOID

Label Id Description
mitochondrial pyruvate carrier deficiency DOID_0080363 [A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.]
nephrotic syndrome type 2 DOID_0080379 [A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.]
obsolete pulmonary valve syphilitic endocarditis DOID_10494
breathing problems SYMP_0000868 [A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air.]
nasal congestion SYMP_0000869 [A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels.]
cervical edema SYMP_0000866 [Cervical edema is a neck symptom characterized by an abnormal excess accumulation of serous fluid in the soft tissue of the cervical area.]
gastroesophageal cancer DOID_0080374 [A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach.]
gastrointestinal bleeding SYMP_0000867 [A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus.]
trichorhinophalangeal syndrome type III DOID_0080376 [A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.]
lesions in oropharynx SYMP_0000864
lesions in mouth SYMP_0000865
obsolete Zellweger spectrum disorder DOID_0080378
orbital granuloma DOID_10499
chronic orbital inflammation DOID_1397
Francisellaceae NCBITaxon_34064
Thiotrichales NCBITaxon_72273
malignant cystic nephroma DOID_7571
kidney cortex disease DOID_0080616 [A kidney disease that is located_in the kidney cortex.]
obsolete transitional cell intraepithelial neoplasm DOID_6240
obsolete metastatic pancreatic adenocarcinoma DOID_7576