All terms in DOID

Label Id Description
eccrine porocarcinoma DOID_7566
gross hematuria SYMP_0000851 [A hematuria that is characterized by the production of a visible redness in the urine.]
mitochondrial complex IV deficiency nuclear type 13 DOID_0080360 [A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.]
COX deficiency, infantile mitochondrial myopathy DOID_0050713 [A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.]
anuria SYMP_0000852 [A urinary system symptom that is characterized by the absence of, or by defective, urine excretion.]
non-invasive bladder papillary urothelial neoplasm DOID_6239
trimethylaminuria DOID_0080361 [An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.]
vulvar clear cell hidradenocarcinoma DOID_7567 [A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells.]
X-linked spondyloepiphyseal dysplasia tarda DOID_0080362 [A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.]
spondyloepiphyseal dysplasia tarda DOID_0112284 [A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.]
congested sclera SYMP_0000850 [Congested sclera is a hyperemia characterized as the congestion of the vessels of the outer layer of the eye containing collagen and elastic fibers.]
obsolete adult brain meningioma DOID_7568
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.]