All terms in DOID

Label Id Description
immunodeficiency 18 DOID_0111971 [A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.]
ragopathy DOID_0061140 [A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.]
obsolete residual type schizophrenia DOID_795
complex cortical dysplasia with other brain malformations 12 DOID_0061141 [A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.]
obsolete residual schizophrenia in remission DOID_794
complex cortical dysplasia with other brain malformations 11 DOID_0061142 [A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32.]
obsolete schizophrenia in remission DOID_793
long QT syndrome 8 DOID_0110649 [A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.]
complex cortical dysplasia with other brain malformations 10 DOID_0061143 [A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.]
complex cortical dysplasia with other brain malformations 13 DOID_0061144 [A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.]
Anisakis simplex NCBITaxon_6269
immunodeficiency 65 DOID_0111978 [A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12.]
long QT syndrome 5 DOID_0110647 [A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.]
monilethrix 1 DOID_0061145 [A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13.]
long QT syndrome 6 DOID_0110648 [A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.]
immunodeficiency 49 DOID_0111979 [A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.]
Pan-Chung-Bellen syndrome DOID_0061146 [A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11.]
obsolete ssDNA virus infectious disease DOID_0050499 [A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.]
obsolete disorganized schizophrenia DOID_792
obsolete disorganized schizophrenia in remission DOID_791