Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
glycogen storage disease II	DOID_2752	[A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.]
obsolete nervous system lysosomal storage disease	DOID_2753
glycogen storage disease VI	DOID_2754	[A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.]
obsolete disorder of pancreatic internal secretion	DOID_1427
Mycobacterium avium complex disease	DOID_2755	[A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.]
obsolete childhood cancer of liver	DOID_690
obsolete paratuberculosis	DOID_2756
corneal ectasia	DOID_1436
transient tic disorder	DOID_2768	[A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.]
brachydactyly	DOID_0050581	[A dysostosis characterized by short fingers and toes.]
gummatous syphilis	DOID_0050584	[A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.]
obsolete Chlamydophila pneumoniae infectious disease	DOID_0050583
neuronal ceroid lipofuscinosis 9	DOID_0110733	[A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures.]
neuronal ceroid lipofuscinosis 3	DOID_0110731	[A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.]
neuronal ceroid lipofuscinosis 11	DOID_0110732	[A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.]
neuronal ceroid lipofuscinosis 4A	DOID_0110730	[A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.]
liver carcinoma	DOID_686	[A liver cancer that has_material_basis_in epithelial cells.]
neurodegeneration with brain iron accumulation 5	DOID_0110739	[A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.]
neurodegeneration with brain iron accumulation 3	DOID_0110737	[A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.]
neurodegeneration with brain iron accumulation 4	DOID_0110738	[A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.]