All terms in DOID

Label Id Description
obsolete avian tuberculosis DOID_413 [A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense.]
autosomal recessive osteopetrosis 6 DOID_0110945 [An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.]
obsolete atypical Mycobacterium infectious disease DOID_412
aceruloplasminemia DOID_0050711 [An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.]
AGAT deficiency DOID_0050712 [An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.]
methylmalonic aciduria and homocystinuria type cblC DOID_0050715 [A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.]
phthalic anhydride CHEBI_36605
cyclic acid anhydride CHEBI_36607
nemaline myopathy 10 DOID_0110931 [A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.]
nemaline myopathy 4 DOID_0110932 [A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.]
hepatic tuberculosis DOID_407 [A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice.]
nemaline myopathy 8 DOID_0110930 [A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.]
autosomal recessive osteopetrosis 5 DOID_0110939 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.]
autosomal dominant osteopetrosis 1 DOID_0110937 [An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.]
early onset absence epilepsy DOID_0050708 [A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.]
autosomal dominant osteopetrosis 2 DOID_0110938 [An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.]
obsolete nonsyndromic epilepsy DOID_0050707
nemaline myopathy 6 DOID_0110935 [A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.]
nemaline myopathy 5A DOID_0110936 [A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.]
early infantile epileptic encephalopathy DOID_0050709 [A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.]