Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
geroderma osteodysplasticum	DOID_0111266	[A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.]
Aspergillus	NCBITaxon_5052
susceptibility to X-linked autism 4	OMIM_300830
susceptibility to atrioventricular septal defect 2	OMIM_606217
atrioventricular septal defect	DOID_0050651	[A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.]
obsolete refraction or accommodation disorder	DOID_9836
dermatitis herpetiformis	DOID_8505
hyperopia	DOID_9834
impetigo herpetiformis	DOID_8503	[An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.]
subcorneal pustular dermatosis	DOID_8508
accommodative esotropia	DOID_9839
cyclotropia	DOID_9838
bullous pemphigoid	DOID_8506	[An autoimmune disease of skin and connective tissue characterized by large blisters.]
juvenile dermatitis herpetiformis	DOID_8507
hypertropia	DOID_9837
cortical senile cataract	DOID_13574	[A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging.]
obsolete schizo-affective type schizophrenia chronic state with acute exacerbation	DOID_13573
familial febrile seizures 8	DOID_0111298	[A familial febrile seizures that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.]
beta thalassemia	DOID_12241	[A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.]
hypersensitivity reaction type III disease	DOID_1557	[A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.]