Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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.]
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	DOID_1856	[A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.]
acute promyelocytic leukemia	DOID_0060318	[An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.]
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.]
angular cheilitis	DOID_0060312	[A cheilitis characterized by inflammation of one or both of the corners of the mouth.]
cheilitis	DOID_1762	[A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.]
adenoid hypertrophy	DOID_0060311	[An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.]
episodic ataxia type 4	DOID_0050992	[An episodic ataxia that is characterized by vertigo and diplopia.]
clitoris	UBERON_0002411