All terms in DOID

Label Id Description
transient cerebral ischemia DOID_224 [A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.]
basilar artery insufficiency DOID_223
perichondritis of auricle DOID_222 [An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.]
acute perichondritis of pinna DOID_221 [A perichondritis of auricle with a sudden onset and a short course.]
mandibulofacial dysostosis with alopecia DOID_0060365 [A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.]
Galloway-Mowat syndrome 1 DOID_0060364 [A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.]
glycerol kinase deficiency DOID_0060363 [An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.]
punctate palmoplantar keratoderma type III DOID_0060362 [A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.]
McCune Albright syndrome DOID_1858 [A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.]
hereditary papulotranslucent acrokeratoderma DOID_0060360 [A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.]
cherubism 1 DOID_1856 [A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.]
parsley food product FOODON_00002084
lung abscess DOID_0060317 [A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.]
orofaciodigital syndrome I DOID_0060316 [An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.]
oral hairy leukoplakia DOID_0060315 [A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.]
persistent generalized lymphadenopathy DOID_0060314 [A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.]
episodic ataxia type 3 DOID_0050991 [An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.]
tracheomalacia DOID_0060313 [A tracheal disease characterized by flaccidity of the tracheal support cartilage.]
episodic ataxia type 2 DOID_0050990 [An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.]
episodic ataxia type 5 DOID_0050993 [An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene.]