All terms in DOID

Label Id Description
adenine phosphoribosyltransferase deficiency DOID_0060350 [A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.]
chronic rheumatic pericarditis DOID_1869
alcoholic psychosis DOID_252 [An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.]
alcohol-induced mental disorder DOID_251
giant cell reparative granuloma DOID_1866
obsolete chronic brain damage DOID_250
sexual dysfunction DOID_1876 [A male reproductive system disease that is characterized by disturbances in sexual desire or performance.]
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation DOID_0060349 [A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.]
hypoparathyroidism-retardation-dysmorphism syndrome DOID_0060348 [A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.]
obsolete abortion complicated by metabolic disorder DOID_1873
acrorenal syndrome DOID_0060347 [A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.]
congenital myopathy 13 DOID_0060346 [A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.]
bacillary angiomatosis DOID_0060345 [A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.]
acrodermatitis chronica atrophicans DOID_0060344 [An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.]
trachea leiomyoma DOID_248 [A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.]
glucocorticoid-induced osteoporosis DOID_0060343 [An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.]
acromelic frontonasal dysostosis DOID_0060342 [A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.]
agnathia-otocephaly complex DOID_0060341 [A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.]
orofaciodigital syndrome VIII DOID_0060378 [An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.]
orofaciodigital syndrome VII DOID_0060377 [An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.]