All terms in DOID

Label Id Description
hereditary multiple exostoses DOID_206 [An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.]
susceptibility to autosomal dominant Parkinson disease 24 MIM_619491
chondrodysplasia Blomstrand type DOID_0060387 [An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.]
Chilblain lupus DOID_0060386 [A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.]
acrofacial dysostosis, Patagonia type DOID_0060385 [An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.]
acrofacial dysostosis, Catania type DOID_0060384 [An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.]
acrofacial dysostosis Rodriguez type DOID_0060383 [An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.]
orofaciodigital syndrome IX DOID_0060382 [An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.]
orofaciodigital syndrome XI DOID_0060381 [An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.]
orofaciodigital syndrome X DOID_0060380 [An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.]
obsolete Flaviviridae infectious disease DOID_1886 [A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.]
Orthohantavirus dobravaense NCBITaxon_3052477
hepatitis C DOID_1883 [A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.]
vitamin K NCIT_C943 [The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins.]
cyclone ENVO_01001297 [An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre.]
Orthohantavirus bayoui NCBITaxon_3052470
pancreatic acinar cell CL_0002064
sigmoid disease DOID_1897
allergic contact dermatitis of eyelid DOID_1895 [A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.]
eczematous dermatitis of eyelid DOID_1893