All terms in DOID

Label Id Description
glycogen storage disease VIII DOID_2751 [A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.]
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 seizures.]
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 6B DOID_0110730 [A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging 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.]