Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete secondary cutaneous syphilis	DOID_13469
Leber congenital amaurosis	DOID_14791	[A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.]
obsolete primary genital syphilis	DOID_13468
subcortical band heterotopia	DOID_0111169	[A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.]
obsolete acquired coagulation factor deficiency	DOID_12136
hypohidrotic ectodermal dysplasia	DOID_14793	[An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).]
obsolete acquired factor VIII deficiency	DOID_12135
Dyggve-Melchior-Clausen disease	DOID_0111167	[A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.]
factor VIII deficiency	DOID_12134	[An inherited blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.]
sepiapterin reductase deficiency	DOID_0111168	[A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.]
low compliance bladder	DOID_12144
autosomal dominant distal hereditary motor neuronopathy	DOID_0111198	[A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance.]
neurogenic bladder	DOID_12143
progressive peripheral pterygium	DOID_13474
distal hereditary motor neuronopathy type 7	DOID_0111199	[An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis.]
central pterygium	DOID_13473
X-linked distal spinal muscular atrophy 3	DOID_0111196	[A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.]
obsolete adenovirus meningitis	DOID_12141	[An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion.]
autosomal recessive distal hereditary motor neuronopathy	DOID_0111197	[A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance.]
Chagas disease	DOID_12140	[A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.]