All terms in DOID

Label Id Description
limb bone UBERON_0002428
autopod endochondral element UBERON_0015063
classic dopamine transporter deficiency syndrome DOID_0070489 [A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.]
Parkinson's disease 25 DOID_0070486 [An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11.]
Penaeus monodon NCBITaxon_6687
BH4-deficient hyperphenylalaninemia C DOID_0081130 [A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.]
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia DOID_0081132 [An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.]
BH4-deficient hyperphenylalaninemia D DOID_0081131 [A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.]
3-methylglutaconic aciduria type 7a DOID_0081133 [A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.]
common variable immunodeficiency 6 DOID_0081149 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p.]
common variable immunodeficiency 2 DOID_0081145 [A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.]
common variable immunodeficiency 3 DOID_0081146 [A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.]
chlorhexidine CHEBI_3614
monochlorobenzenes CHEBI_83403
biguanides CHEBI_53662
common variable immunodeficiency 4 DOID_0081147 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.]
common variable immunodeficiency 5 DOID_0081148 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.]
mitochondrial complex IV deficiency nuclear type 8 DOID_0070495 [A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.]
COX deficiency, benign infantile mitochondrial myopathy DOID_0081377 [A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.]
Penaeoidea NCBITaxon_111520