All terms in DOID

Label Id Description
nephronophthisis DOID_12712 [A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).]
black piedra DOID_12711 [A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.]
superficial mycosis DOID_0050133 [A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.]
obsolete Histoplasma duboisii pneumonia DOID_12710 [An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.]
reducing body myopathy 1A DOID_0080090 [A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.]
Measles morbillivirus NCBITaxon_11234
Morbillivirus hominis NCBITaxon_3052345
obsolete spheroid body myopathy DOID_0080091 [A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.]
chronic gonococcal salpingitis DOID_12718 [A chronic salpingitis that is caused by gonorrhea.]
newborn respiratory distress syndrome DOID_12716 [A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.]
respiratory failure DOID_11162 [A lung disease characterized by inadequate gas exchange by the respiratory system.]
obsolete infectious myositis DOID_12715
Ellis-Van Creveld syndrome DOID_12714 [A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.]
myofibrillar myopathy 5 DOID_0080096 [A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.]
myofibrillar myopathy DOID_0080307 [A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.]
myofibrillar myopathy 6 DOID_0080097 [A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.]
myofibrillar myopathy 7 DOID_0080098 [A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.]
myopathy, lactic acidosis, and sideroblastic anemia DOID_0080099 [A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.]
mitochondrial myopathy DOID_699 [A myopathy that is characterized by mitochondrial dysfunction.]
myofibrillar myopathy 1 DOID_0080092 [A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.]