Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
osteoarthritis susceptibility 4	OMIM_610839
obsolete vitamin A deficiency with xerophthalmic corneal scar	DOID_12111
mitochondrial complex V (ATP synthase) deficiency	DOID_0111143	[A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.]
brittle cornea syndrome	DOID_14775
Ehlers-Danlos syndrome	DOID_13359	[A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.]
preterm premature rupture of the membranes	DOID_0111144	[A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.]
delayed sleep phase syndrome	DOID_0111141	[A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.]
benign familial neonatal epilepsy	DOID_14777
neonatal period electroclinical syndrome	DOID_0050702	[An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.]
oligomeganephronia	DOID_0111142	[A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.]
blepharophimosis, ptosis, and epicanthus inversus syndrome	DOID_14778	[A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3.]
IGSF1 deficiency syndrome	DOID_0111140	[A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.]
hemosiderosis	DOID_12119	[An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.]
pulmonary hemosiderosis	DOID_12118	[A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.]
posterior corneal pigmentation	DOID_13448
pulmonary alveolar microlithiasis	DOID_12117
autosomal recessive isolated ectopia lentis 2	DOID_0111149	[An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.]
corneal argyrosis	DOID_13447
basilar artery occlusion	DOID_13446
obsolete streptococcal pharyngitis	DOID_12115	[A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills.]