All terms in DOID

Label Id Description
Alsuviricetes NCBITaxon_2732461
unclassified Resentoviricetes NCBITaxon_2788829
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency DOID_0070540 [A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.]
chromosomal duplication inheritance GENO_0000971
chromosomal inheritance GENO_0000969
chromosomal deletion inheritance GENO_0000970
chromosomal rearrangement inheritance GENO_0000972
primary pigmented nodular adrenocortical disease 2 DOID_0070547 [A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2.]
primary pigmented nodular adrenocortical disease DOID_0060280 [An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.]
primary pigmented nodular adrenocortical disease 3 DOID_0070548 [A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3.]
developmental and epileptic encephalopathy 116 DOID_0070545 [A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.]
primary pigmented nodular adrenocortical disease 1 DOID_0070546 [A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2.]
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities DOID_0070543 [An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3.]
congenital glutamine deficiency DOID_0070544 [An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency DOID_0070541 [An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.]
major affective disorder 6 MIM_611536
neurodevelopmental disorder with spastic paraplegia and microcephaly DOID_0070542 [An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.]
Amarillovirales NCBITaxon_2732545
Flasuviricetes NCBITaxon_2732462
Martellivirales NCBITaxon_2732544