All terms in DOID

Label Id Description
Penaeus aztecus NCBITaxon_6690
atypical dopamine transporter deficiency syndrome DOID_0070488 [A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia.]
dopamine transporter deficiency syndrome DOID_0070487 [A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33.]
Penaeus vannamei NCBITaxon_6689
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.]