Enum: ICIMDEnum
ICIMD category (layer 1) and disease group (layer 2) assignments. Groups point to their parent category via is_a. See the schema-level description for provenance and the assign-most-specific rule.
Permissible Values
| Value | Meaning | Description | Additional Info |
|---|---|---|---|
| amino_acid_metabolism | None | ICIMD category 1: Disorders of amino acid metabolism (super-domain: intermedi... | |
| branched_chain_amino_acids | None | Disorders of branched-chain amino acid (leucine, isoleucine, valine) metaboli... | Is-A: NONE |
| phe_and_tyr | None | Disorders of phenylalanine and tyrosine metabolism | Is-A: NONE |
| sulfur_containing_amino_acids | None | Disorders of sulfur-containing amino acid (methionine, homocysteine, cysteine... | Is-A: NONE |
| gly_and_ser | None | Disorders of glycine and serine metabolism | Is-A: NONE |
| orn_pro_and_hyp | None | Disorders of ornithine, proline and hydroxyproline metabolism | Is-A: NONE |
| lys_hyl_and_trp | None | Disorders of lysine, hydroxylysine and tryptophan metabolism | Is-A: NONE |
| glu_gln_and_asp_asn | None | Disorders of glutamate/glutamine and aspartate/asparagine metabolism | Is-A: NONE |
| histidine_metabolism | None | Disorders of histidine metabolism | Is-A: NONE |
| organic_acidurias | None | Organic acidurias — deficiencies of mitochondrial enzymes for breakdown of Co... | Is-A: NONE |
| urea_cycle_and_hyperammonemias | None | Urea cycle disorders and other hyperammonemias | Is-A: NONE |
| amino_acid_transport | None | Disorders of amino acid transport | Is-A: NONE |
| amino_acids_other | None | Other disorders of amino acid metabolism | Is-A: NONE |
| peptide_and_amine_metabolism | None | ICIMD category 2: Disorders of peptide and amine metabolism (super-domain: in... | |
| glutathione_metabolism | None | Disorders of glutathione biosynthesis and regeneration | Is-A: NONE |
| peptides_other | None | Other peptide disorders, including dipeptidase deficiencies | Is-A: NONE |
| methylamine_metabolism | None | Disorders of methylamine metabolism | Is-A: NONE |
| polyamine_metabolism | None | Disorders of polyamine metabolism | Is-A: NONE |
| carbohydrate_metabolism | None | ICIMD category 3: Disorders of carbohydrate metabolism (super-domain: interme... | |
| galactose_and_fructose | None | Disorders of galactose and fructose metabolism | Is-A: NONE |
| gluconeogenesis | None | Disorders of gluconeogenesis (including pyruvate carboxylase deficiency) | Is-A: NONE |
| glycolysis | None | Disorders of glycolysis | Is-A: NONE |
| glycogen_metabolism | None | Disorders of glycogen metabolism (glycogen storage diseases) | Is-A: NONE |
| pentose_polyol_metabolism | None | Disorders of pentose and polyol metabolism | Is-A: NONE |
| carbohydrate_transport_and_absorption | None | Disorders of carbohydrate (hexose) transmembrane transport and absorption | Is-A: NONE |
| fatty_acid_and_ketone_body_metabolism | None | ICIMD category 4: Disorders of fatty acid and ketone body metabolism (super-d... | |
| carnitine_metabolism | None | Disorders of carnitine metabolism | Is-A: NONE |
| mitochondrial_fatty_acid_oxidation | None | Disorders of mitochondrial fatty acid oxidation | Is-A: NONE |
| ketone_body_metabolism | None | Disorders of ketone body synthesis, breakdown and transport | Is-A: NONE |
| energy_substrate_metabolism | None | ICIMD category 5: Disorders of energy substrate metabolism (super-domain: int... | |
| pyruvate_metabolism | None | Disorders of pyruvate metabolism | Is-A: NONE |
| krebs_cycle | None | Disorders of the Krebs (tricarboxylic acid) cycle | Is-A: NONE |
| creatine_metabolism | None | Disorders of creatine metabolism | Is-A: NONE |
| mitochondrial_dna_related_disorders | None | ICIMD category 6: Mitochondrial DNA-related disorders (super-domain: intermed... | |
| mtdna_encoded_respiratory_chain_proteins | None | Disorders of the 13 mtDNA protein-coding (respiratory chain) genes | Is-A: NONE |
| mtdna_encoded_trna_rrna | None | Disorders of mtDNA-encoded tRNA and rRNA genes | Is-A: NONE |
| single_large_scale_mtdna_deletions | None | Disorders associated with single large-scale mtDNA deletions | Is-A: NONE |
| nuclear_encoded_oxidative_phosphorylation | None | ICIMD category 7: Nuclear-encoded disorders of oxidative phosphorylation (sup... | |
| complex_i_subunits_and_assembly_factors | None | Nuclear-encoded complex I subunit and assembly factor defects | Is-A: NONE |
| complex_ii_subunits_and_assembly_factors | None | Nuclear-encoded complex II subunit and assembly factor defects | Is-A: NONE |
| complex_iii_subunits_and_assembly_factors | None | Nuclear-encoded complex III subunit and assembly factor defects | Is-A: NONE |
| complex_iv_subunits_and_assembly_factors | None | Nuclear-encoded complex IV subunit and assembly factor defects | Is-A: NONE |
| complex_v_subunits_and_assembly_factors | None | Nuclear-encoded complex V subunit and assembly factor defects | Is-A: NONE |
| mitochondrial_cofactor_biosynthesis | None | ICIMD category 8: Disorders of mitochondrial cofactor biosynthesis (super-dom... | |
| coenzyme_q10_biosynthesis | None | Disorders of coenzyme Q10 (ubiquinone) biosynthesis | Is-A: NONE |
| lipoic_acid_and_iron_sulfur | None | Disorders of lipoic acid and iron-sulfur cluster biosynthesis | Is-A: NONE |
| cytochrome_c | None | Disorders of cytochrome c | Is-A: NONE |
| mitochondrial_dna_maintenance_and_replication | None | ICIMD category 9: Disorders of mitochondrial DNA maintenance and replication ... | |
| nucleotide_pool_maintenance | None | Disorders of mitochondrial nucleotide pool maintenance | Is-A: NONE |
| mtdna_replication_and_maintenance | None | Disorders of mtDNA replication and maintenance | Is-A: NONE |
| mitochondrial_gene_expression | None | ICIMD category 10: Disorders of mitochondrial gene expression (super-domain: ... | |
| mtdna_transcript_processing_and_modification | None | Disorders of mtDNA transcript processing and modification | Is-A: NONE |
| mitochondrial_aminoacyl_trna_synthetases | None | Disorders of mitochondrial aminoacyl-tRNA synthetases | Is-A: NONE |
| mitoribosome | None | Disorders of the mitoribosome | Is-A: NONE |
| other_mitochondrial_function | None | ICIMD category 11: Other disorders of mitochondrial function (super-domain: i... | |
| mitochondrial_shuttles_and_carriers | None | Disorders of mitochondrial shuttles and carriers | Is-A: NONE |
| mitochondrial_protein_import | None | Disorders of mitochondrial protein import | Is-A: NONE |
| mitochondrial_protein_quality_control | None | Disorders of mitochondrial protein quality control | Is-A: NONE |
| mitochondrial_dysfunction_miscellaneous | None | Miscellaneous mitochondrial disorders not fitting other groups | Is-A: NONE |
| metabolite_repair_proofreading | None | ICIMD category 12: Disorders of metabolite repair/proofreading (super-domain:... | |
| metabolite_proofreading | None | Disorders of metabolite proofreading, addressing the promiscuity of certain i... | Is-A: NONE |
| miscellaneous_intermediary_metabolism | None | ICIMD category 13: Miscellaneous disorders of intermediary metabolism (super-... | |
| glyoxylate_and_oxalate | None | Disorders of glyoxylate and oxalate metabolism | Is-A: NONE |
| intermediary_metabolism_miscellaneous | None | Other miscellaneous disorders of intermediary metabolism | Is-A: NONE |
| lipid_metabolism | None | ICIMD category 14: Disorders of lipid metabolism (super-domain: lipid metabol... | |
| fatty_acyl_synthesis_elongation_and_recycling | None | Disorders of fatty acyl synthesis, elongation, and recycling | Is-A: NONE |
| peroxisomal_fatty_acid_oxidation | None | Disorders of peroxisomal fatty acid oxidation | Is-A: NONE |
| eicosanoid_metabolism | None | Disorders of eicosanoid metabolism | Is-A: NONE |
| glycerolipid_metabolism | None | Disorders of glycerolipid metabolism | Is-A: NONE |
| glycerophospholipid_metabolism | None | Disorders of glycerophospholipid metabolism | Is-A: NONE |
| sphingolipid_synthesis_and_recycling | None | Disorders of sphingolipid synthesis and recycling | Is-A: NONE |
| sterol_metabolism | None | Disorders of sterol metabolism | Is-A: NONE |
| bile_acid_metabolism | None | Disorders of bile acid metabolism | Is-A: NONE |
| lipoprotein_metabolism | None | ICIMD category 15: Disorders of lipoprotein metabolism (super-domain: lipid m... | |
| hypercholesterolemias | None | Hypercholesterolemias | Is-A: NONE |
| hypertriglyceridemias | None | Hypertriglyceridemias | Is-A: NONE |
| mixed_hyperlipidemias | None | Mixed hyperlipidemias | Is-A: NONE |
| hdl_metabolism | None | Disorders of high-density lipoprotein (HDL) metabolism | Is-A: NONE |
| decreased_ldl_triglycerides | None | Disorders with decreased LDL and/or triglycerides | Is-A: NONE |
| lipoproteins_other | None | Other disorders of lipoprotein metabolism | Is-A: NONE |
| nucleobase_nucleotide_nucleic_acid_metabolism | None | ICIMD category 16: Disorders of nucleobase, nucleotide and nucleic acid metab... | |
| purine_metabolism | None | Disorders of purine metabolism | Is-A: NONE |
| pyrimidine_metabolism | None | Disorders of pyrimidine metabolism | Is-A: NONE |
| ectonucleotides_and_nucleic_acids | None | Disorders of ectonucleotides and nucleic acids | Is-A: NONE |
| non_mitochondrial_trna_metabolism | None | Disorders of non-mitochondrial tRNA metabolism | Is-A: NONE |
| ribosomal_biogenesis | None | Disorders of ribosomal biogenesis (non-mitochondrial rRNA metabolism) | Is-A: NONE |
| tetrapyrrole_metabolism | None | ICIMD category 17: Disorders of tetrapyrrole metabolism (super-domain: metabo... | |
| heme_synthesis_and_porphyrias | None | Disorders of heme biosynthesis (porphyrias) | Is-A: NONE |
| heme_degradation_and_bilirubin | None | Disorders of heme breakdown (biliverdin and bilirubin) | Is-A: NONE |
| congenital_disorders_of_glycosylation | None | ICIMD category 18: Congenital disorders of glycosylation (super-domain: compl... | |
| n_linked_protein_glycosylation | None | Disorders of N-linked protein glycosylation | Is-A: NONE |
| o_linked_protein_glycosylation | None | Disorders of O-linked protein glycosylation (including glycosaminoglycan synt... | Is-A: NONE |
| lipid_glycosylation | None | Disorders of lipid glycosylation (including glycosylphosphatidylinositol bios... | Is-A: NONE |
| multiple_glycosylation_pathways | None | Disorders affecting multiple glycosylation pathways (dolichol metabolism, Gol... | Is-A: NONE |
| other_glycan_metabolism | None | Other disorders of glycan metabolism | Is-A: NONE |
| organelle_biogenesis_dynamics_and_interactions | None | ICIMD category 19: Disorders of organelle biogenesis, dynamics and interactio... | |
| mitochondrial_membrane_biogenesis_and_remodeling | None | Disorders of mitochondrial membrane biogenesis and remodeling | Is-A: NONE |
| mitochondrial_and_peroxisomal_dynamics | None | Disorders of mitochondrial and peroxisomal dynamics | Is-A: NONE |
| peroxisomal_biogenesis | None | Peroxisomal biogenesis disorders (peroxin-related) | Is-A: NONE |
| lysosome_related_organelle_biogenesis | None | Disorders of lysosome-related organelle biogenesis | Is-A: NONE |
| organelle_interplay | None | Disorders of organelle interplay | Is-A: NONE |
| vesicular_trafficking | None | Disorders of vesicular trafficking | Is-A: NONE |
| complex_molecule_degradation | None | ICIMD category 20: Disorders of complex molecule degradation (super-domain: c... | |
| sphingolipid_degradation | None | Disorders of sphingolipid degradation (sphingolipidoses) | Is-A: NONE |
| glycosaminoglycan_degradation | None | Disorders of glycosaminoglycan degradation (mucopolysaccharidoses) | Is-A: NONE |
| glycoprotein_degradation | None | Disorders of glycoprotein degradation | Is-A: NONE |
| neuronal_ceroid_lipofuscinosis | None | Neuronal ceroid lipofuscinoses | Is-A: NONE |
| autophagy | None | Disorders of autophagy | Is-A: NONE |
| complex_molecule_degradation_other | None | Other disorders of complex molecule degradation | Is-A: NONE |
| vitamin_and_cofactor_metabolism | None | ICIMD category 21: Disorders of vitamin and cofactor metabolism (super-domain... | |
| tetrahydrobiopterin_metabolism | None | Disorders of tetrahydrobiopterin metabolism | Is-A: NONE |
| thiamine_metabolism | None | Disorders of thiamine (vitamin B1) metabolism | Is-A: NONE |
| riboflavin_metabolism | None | Disorders of riboflavin (vitamin B2) metabolism | Is-A: NONE |
| niacin_and_nad_metabolism | None | Disorders of niacin/nicotinamide (vitamin B3) and NAD metabolism | Is-A: NONE |
| pantothenate_and_coa_metabolism | None | Disorders of pantothenate (vitamin B5) and coenzyme A metabolism | Is-A: NONE |
| pyridoxine_metabolism | None | Disorders of pyridoxine (vitamin B6) metabolism | Is-A: NONE |
| biotin_metabolism | None | Disorders of biotin (vitamin B7) metabolism | Is-A: NONE |
| folate_metabolism | None | Disorders of folate (vitamin B9) metabolism | Is-A: NONE |
| cobalamin_metabolism | None | Disorders of cobalamin (vitamin B12) metabolism | Is-A: NONE |
| molybdenum_cofactor_metabolism | None | Disorders of molybdenum cofactor metabolism | Is-A: NONE |
| vitamins_other | None | Other disorders of vitamin and cofactor metabolism | Is-A: NONE |
| trace_elements_and_metals | None | ICIMD category 22: Disorders of trace elements and metals (super-domain: cofa... | |
| copper_metabolism | None | Disorders of copper metabolism | Is-A: NONE |
| iron_metabolism | None | Disorders of iron metabolism | Is-A: NONE |
| manganese_metabolism | None | Disorders of manganese metabolism | Is-A: NONE |
| zinc_metabolism | None | Disorders of zinc metabolism | Is-A: NONE |
| trace_element_other | None | Other disorders of trace element and metal metabolism | Is-A: NONE |
| neurotransmitter_disorders | None | ICIMD category 23: Neurotransmitter disorders (super-domain: metabolic cell s... | |
| monoamine_metabolism | None | Disorders of monoamine neurotransmitter metabolism | Is-A: NONE |
| gaba_metabolism | None | Disorders of GABA metabolism | Is-A: NONE |
| glutamate_neurotransmission | None | Disorders of glutamate neurotransmitter function | Is-A: NONE |
| glycine_neurotransmission | None | Disorders of glycine neurotransmitter function | Is-A: NONE |
| choline_metabolism | None | Disorders of choline metabolism | Is-A: NONE |
| synaptic_vesicle_cycle | None | Disorders of the synaptic vesicle cycle | Is-A: NONE |
| endocrine_metabolic_disorders | None | ICIMD category 24: Endocrine metabolic disorders (super-domain: metabolic cel... | |
| insulin_metabolism | None | Disorders affecting insulin metabolism | Is-A: NONE |
| steroid_hormone_metabolism | None | Disorders of steroid hormone metabolism | Is-A: NONE |
Slots
| Name | Description |
|---|---|
| classification_value |
Identifier and Mapping Information
Schema Source
- from schema: https://w3id.org/monarch-initiative/dismech
LinkML Source
name: ICIMDEnum
description: ICIMD category (layer 1) and disease group (layer 2) assignments. Groups
point to their parent category via ``is_a``. See the schema-level description for
provenance and the assign-most-specific rule.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
amino_acid_metabolism:
text: amino_acid_metabolism
description: 'ICIMD category 1: Disorders of amino acid metabolism (super-domain:
intermediary metabolism — nutrients). Enzyme deficiencies of amino acid pathways,
frequently causing accumulation of toxic metabolites.'
branched_chain_amino_acids:
text: branched_chain_amino_acids
description: Disorders of branched-chain amino acid (leucine, isoleucine, valine)
metabolism.
is_a: amino_acid_metabolism
phe_and_tyr:
text: phe_and_tyr
description: Disorders of phenylalanine and tyrosine metabolism.
is_a: amino_acid_metabolism
sulfur_containing_amino_acids:
text: sulfur_containing_amino_acids
description: Disorders of sulfur-containing amino acid (methionine, homocysteine,
cysteine) metabolism.
is_a: amino_acid_metabolism
gly_and_ser:
text: gly_and_ser
description: Disorders of glycine and serine metabolism.
is_a: amino_acid_metabolism
orn_pro_and_hyp:
text: orn_pro_and_hyp
description: Disorders of ornithine, proline and hydroxyproline metabolism.
is_a: amino_acid_metabolism
lys_hyl_and_trp:
text: lys_hyl_and_trp
description: Disorders of lysine, hydroxylysine and tryptophan metabolism.
is_a: amino_acid_metabolism
glu_gln_and_asp_asn:
text: glu_gln_and_asp_asn
description: Disorders of glutamate/glutamine and aspartate/asparagine metabolism.
is_a: amino_acid_metabolism
histidine_metabolism:
text: histidine_metabolism
description: Disorders of histidine metabolism.
is_a: amino_acid_metabolism
organic_acidurias:
text: organic_acidurias
description: Organic acidurias — deficiencies of mitochondrial enzymes for breakdown
of CoA-activated small carboxylic acids, mostly from amino acid deamination.
is_a: amino_acid_metabolism
urea_cycle_and_hyperammonemias:
text: urea_cycle_and_hyperammonemias
description: Urea cycle disorders and other hyperammonemias.
is_a: amino_acid_metabolism
amino_acid_transport:
text: amino_acid_transport
description: Disorders of amino acid transport.
is_a: amino_acid_metabolism
amino_acids_other:
text: amino_acids_other
description: Other disorders of amino acid metabolism.
is_a: amino_acid_metabolism
peptide_and_amine_metabolism:
text: peptide_and_amine_metabolism
description: 'ICIMD category 2: Disorders of peptide and amine metabolism (super-domain:
intermediary metabolism — nutrients).'
glutathione_metabolism:
text: glutathione_metabolism
description: Disorders of glutathione biosynthesis and regeneration.
is_a: peptide_and_amine_metabolism
peptides_other:
text: peptides_other
description: Other peptide disorders, including dipeptidase deficiencies.
is_a: peptide_and_amine_metabolism
methylamine_metabolism:
text: methylamine_metabolism
description: Disorders of methylamine metabolism.
is_a: peptide_and_amine_metabolism
polyamine_metabolism:
text: polyamine_metabolism
description: Disorders of polyamine metabolism.
is_a: peptide_and_amine_metabolism
carbohydrate_metabolism:
text: carbohydrate_metabolism
description: 'ICIMD category 3: Disorders of carbohydrate metabolism (super-domain:
intermediary metabolism — nutrients).'
galactose_and_fructose:
text: galactose_and_fructose
description: Disorders of galactose and fructose metabolism.
is_a: carbohydrate_metabolism
gluconeogenesis:
text: gluconeogenesis
description: Disorders of gluconeogenesis (including pyruvate carboxylase deficiency).
is_a: carbohydrate_metabolism
glycolysis:
text: glycolysis
description: Disorders of glycolysis.
is_a: carbohydrate_metabolism
glycogen_metabolism:
text: glycogen_metabolism
description: Disorders of glycogen metabolism (glycogen storage diseases).
is_a: carbohydrate_metabolism
pentose_polyol_metabolism:
text: pentose_polyol_metabolism
description: Disorders of pentose and polyol metabolism.
is_a: carbohydrate_metabolism
carbohydrate_transport_and_absorption:
text: carbohydrate_transport_and_absorption
description: Disorders of carbohydrate (hexose) transmembrane transport and absorption.
is_a: carbohydrate_metabolism
fatty_acid_and_ketone_body_metabolism:
text: fatty_acid_and_ketone_body_metabolism
description: 'ICIMD category 4: Disorders of fatty acid and ketone body metabolism
(super-domain: intermediary metabolism — nutrients).'
carnitine_metabolism:
text: carnitine_metabolism
description: Disorders of carnitine metabolism.
is_a: fatty_acid_and_ketone_body_metabolism
mitochondrial_fatty_acid_oxidation:
text: mitochondrial_fatty_acid_oxidation
description: Disorders of mitochondrial fatty acid oxidation.
is_a: fatty_acid_and_ketone_body_metabolism
ketone_body_metabolism:
text: ketone_body_metabolism
description: Disorders of ketone body synthesis, breakdown and transport.
is_a: fatty_acid_and_ketone_body_metabolism
energy_substrate_metabolism:
text: energy_substrate_metabolism
description: 'ICIMD category 5: Disorders of energy substrate metabolism (super-domain:
intermediary metabolism — energy).'
pyruvate_metabolism:
text: pyruvate_metabolism
description: Disorders of pyruvate metabolism.
is_a: energy_substrate_metabolism
krebs_cycle:
text: krebs_cycle
description: Disorders of the Krebs (tricarboxylic acid) cycle.
is_a: energy_substrate_metabolism
creatine_metabolism:
text: creatine_metabolism
description: Disorders of creatine metabolism.
is_a: energy_substrate_metabolism
mitochondrial_dna_related_disorders:
text: mitochondrial_dna_related_disorders
description: 'ICIMD category 6: Mitochondrial DNA-related disorders (super-domain:
intermediary metabolism — energy).'
mtdna_encoded_respiratory_chain_proteins:
text: mtdna_encoded_respiratory_chain_proteins
description: Disorders of the 13 mtDNA protein-coding (respiratory chain) genes.
is_a: mitochondrial_dna_related_disorders
mtdna_encoded_trna_rrna:
text: mtdna_encoded_trna_rrna
description: Disorders of mtDNA-encoded tRNA and rRNA genes.
is_a: mitochondrial_dna_related_disorders
single_large_scale_mtdna_deletions:
text: single_large_scale_mtdna_deletions
description: Disorders associated with single large-scale mtDNA deletions.
is_a: mitochondrial_dna_related_disorders
nuclear_encoded_oxidative_phosphorylation:
text: nuclear_encoded_oxidative_phosphorylation
description: 'ICIMD category 7: Nuclear-encoded disorders of oxidative phosphorylation
(super-domain: intermediary metabolism — energy).'
complex_i_subunits_and_assembly_factors:
text: complex_i_subunits_and_assembly_factors
description: Nuclear-encoded complex I subunit and assembly factor defects.
is_a: nuclear_encoded_oxidative_phosphorylation
complex_ii_subunits_and_assembly_factors:
text: complex_ii_subunits_and_assembly_factors
description: Nuclear-encoded complex II subunit and assembly factor defects.
is_a: nuclear_encoded_oxidative_phosphorylation
complex_iii_subunits_and_assembly_factors:
text: complex_iii_subunits_and_assembly_factors
description: Nuclear-encoded complex III subunit and assembly factor defects.
is_a: nuclear_encoded_oxidative_phosphorylation
complex_iv_subunits_and_assembly_factors:
text: complex_iv_subunits_and_assembly_factors
description: Nuclear-encoded complex IV subunit and assembly factor defects.
is_a: nuclear_encoded_oxidative_phosphorylation
complex_v_subunits_and_assembly_factors:
text: complex_v_subunits_and_assembly_factors
description: Nuclear-encoded complex V subunit and assembly factor defects.
is_a: nuclear_encoded_oxidative_phosphorylation
mitochondrial_cofactor_biosynthesis:
text: mitochondrial_cofactor_biosynthesis
description: 'ICIMD category 8: Disorders of mitochondrial cofactor biosynthesis
(super-domain: intermediary metabolism — energy).'
coenzyme_q10_biosynthesis:
text: coenzyme_q10_biosynthesis
description: Disorders of coenzyme Q10 (ubiquinone) biosynthesis.
is_a: mitochondrial_cofactor_biosynthesis
lipoic_acid_and_iron_sulfur:
text: lipoic_acid_and_iron_sulfur
description: Disorders of lipoic acid and iron-sulfur cluster biosynthesis.
is_a: mitochondrial_cofactor_biosynthesis
cytochrome_c:
text: cytochrome_c
description: Disorders of cytochrome c.
is_a: mitochondrial_cofactor_biosynthesis
mitochondrial_dna_maintenance_and_replication:
text: mitochondrial_dna_maintenance_and_replication
description: 'ICIMD category 9: Disorders of mitochondrial DNA maintenance and
replication (super-domain: intermediary metabolism — energy).'
nucleotide_pool_maintenance:
text: nucleotide_pool_maintenance
description: Disorders of mitochondrial nucleotide pool maintenance.
is_a: mitochondrial_dna_maintenance_and_replication
mtdna_replication_and_maintenance:
text: mtdna_replication_and_maintenance
description: Disorders of mtDNA replication and maintenance.
is_a: mitochondrial_dna_maintenance_and_replication
mitochondrial_gene_expression:
text: mitochondrial_gene_expression
description: 'ICIMD category 10: Disorders of mitochondrial gene expression (super-domain:
intermediary metabolism — energy).'
mtdna_transcript_processing_and_modification:
text: mtdna_transcript_processing_and_modification
description: Disorders of mtDNA transcript processing and modification.
is_a: mitochondrial_gene_expression
mitochondrial_aminoacyl_trna_synthetases:
text: mitochondrial_aminoacyl_trna_synthetases
description: Disorders of mitochondrial aminoacyl-tRNA synthetases.
is_a: mitochondrial_gene_expression
mitoribosome:
text: mitoribosome
description: Disorders of the mitoribosome.
is_a: mitochondrial_gene_expression
other_mitochondrial_function:
text: other_mitochondrial_function
description: 'ICIMD category 11: Other disorders of mitochondrial function (super-domain:
intermediary metabolism — energy).'
mitochondrial_shuttles_and_carriers:
text: mitochondrial_shuttles_and_carriers
description: Disorders of mitochondrial shuttles and carriers.
is_a: other_mitochondrial_function
mitochondrial_protein_import:
text: mitochondrial_protein_import
description: Disorders of mitochondrial protein import.
is_a: other_mitochondrial_function
mitochondrial_protein_quality_control:
text: mitochondrial_protein_quality_control
description: Disorders of mitochondrial protein quality control.
is_a: other_mitochondrial_function
mitochondrial_dysfunction_miscellaneous:
text: mitochondrial_dysfunction_miscellaneous
description: Miscellaneous mitochondrial disorders not fitting other groups.
is_a: other_mitochondrial_function
metabolite_repair_proofreading:
text: metabolite_repair_proofreading
description: 'ICIMD category 12: Disorders of metabolite repair/proofreading (super-domain:
intermediary metabolism — other).'
metabolite_proofreading:
text: metabolite_proofreading
description: Disorders of metabolite proofreading, addressing the promiscuity
of certain intermediary-metabolism enzymes.
is_a: metabolite_repair_proofreading
miscellaneous_intermediary_metabolism:
text: miscellaneous_intermediary_metabolism
description: 'ICIMD category 13: Miscellaneous disorders of intermediary metabolism
(super-domain: intermediary metabolism — other).'
glyoxylate_and_oxalate:
text: glyoxylate_and_oxalate
description: Disorders of glyoxylate and oxalate metabolism.
is_a: miscellaneous_intermediary_metabolism
intermediary_metabolism_miscellaneous:
text: intermediary_metabolism_miscellaneous
description: Other miscellaneous disorders of intermediary metabolism.
is_a: miscellaneous_intermediary_metabolism
lipid_metabolism:
text: lipid_metabolism
description: 'ICIMD category 14: Disorders of lipid metabolism (super-domain:
lipid metabolism and transport); follows the LIPID MAPS lipid classification.'
fatty_acyl_synthesis_elongation_and_recycling:
text: fatty_acyl_synthesis_elongation_and_recycling
description: Disorders of fatty acyl synthesis, elongation, and recycling.
is_a: lipid_metabolism
peroxisomal_fatty_acid_oxidation:
text: peroxisomal_fatty_acid_oxidation
description: Disorders of peroxisomal fatty acid oxidation.
is_a: lipid_metabolism
eicosanoid_metabolism:
text: eicosanoid_metabolism
description: Disorders of eicosanoid metabolism.
is_a: lipid_metabolism
glycerolipid_metabolism:
text: glycerolipid_metabolism
description: Disorders of glycerolipid metabolism.
is_a: lipid_metabolism
glycerophospholipid_metabolism:
text: glycerophospholipid_metabolism
description: Disorders of glycerophospholipid metabolism.
is_a: lipid_metabolism
sphingolipid_synthesis_and_recycling:
text: sphingolipid_synthesis_and_recycling
description: Disorders of sphingolipid synthesis and recycling.
is_a: lipid_metabolism
sterol_metabolism:
text: sterol_metabolism
description: Disorders of sterol metabolism.
is_a: lipid_metabolism
bile_acid_metabolism:
text: bile_acid_metabolism
description: Disorders of bile acid metabolism.
is_a: lipid_metabolism
lipoprotein_metabolism:
text: lipoprotein_metabolism
description: 'ICIMD category 15: Disorders of lipoprotein metabolism (super-domain:
lipid metabolism and transport).'
hypercholesterolemias:
text: hypercholesterolemias
description: Hypercholesterolemias.
is_a: lipoprotein_metabolism
hypertriglyceridemias:
text: hypertriglyceridemias
description: Hypertriglyceridemias.
is_a: lipoprotein_metabolism
mixed_hyperlipidemias:
text: mixed_hyperlipidemias
description: Mixed hyperlipidemias.
is_a: lipoprotein_metabolism
hdl_metabolism:
text: hdl_metabolism
description: Disorders of high-density lipoprotein (HDL) metabolism.
is_a: lipoprotein_metabolism
decreased_ldl_triglycerides:
text: decreased_ldl_triglycerides
description: Disorders with decreased LDL and/or triglycerides.
is_a: lipoprotein_metabolism
lipoproteins_other:
text: lipoproteins_other
description: Other disorders of lipoprotein metabolism.
is_a: lipoprotein_metabolism
nucleobase_nucleotide_nucleic_acid_metabolism:
text: nucleobase_nucleotide_nucleic_acid_metabolism
description: 'ICIMD category 16: Disorders of nucleobase, nucleotide and nucleic
acid metabolism (super-domain: metabolism of heterocyclic compounds).'
purine_metabolism:
text: purine_metabolism
description: Disorders of purine metabolism.
is_a: nucleobase_nucleotide_nucleic_acid_metabolism
pyrimidine_metabolism:
text: pyrimidine_metabolism
description: Disorders of pyrimidine metabolism.
is_a: nucleobase_nucleotide_nucleic_acid_metabolism
ectonucleotides_and_nucleic_acids:
text: ectonucleotides_and_nucleic_acids
description: Disorders of ectonucleotides and nucleic acids.
is_a: nucleobase_nucleotide_nucleic_acid_metabolism
non_mitochondrial_trna_metabolism:
text: non_mitochondrial_trna_metabolism
description: Disorders of non-mitochondrial tRNA metabolism.
is_a: nucleobase_nucleotide_nucleic_acid_metabolism
ribosomal_biogenesis:
text: ribosomal_biogenesis
description: Disorders of ribosomal biogenesis (non-mitochondrial rRNA metabolism).
is_a: nucleobase_nucleotide_nucleic_acid_metabolism
tetrapyrrole_metabolism:
text: tetrapyrrole_metabolism
description: 'ICIMD category 17: Disorders of tetrapyrrole metabolism (super-domain:
metabolism of heterocyclic compounds).'
heme_synthesis_and_porphyrias:
text: heme_synthesis_and_porphyrias
description: Disorders of heme biosynthesis (porphyrias).
is_a: tetrapyrrole_metabolism
heme_degradation_and_bilirubin:
text: heme_degradation_and_bilirubin
description: Disorders of heme breakdown (biliverdin and bilirubin).
is_a: tetrapyrrole_metabolism
congenital_disorders_of_glycosylation:
text: congenital_disorders_of_glycosylation
description: 'ICIMD category 18: Congenital disorders of glycosylation (super-domain:
complex molecule and organelle metabolism).'
n_linked_protein_glycosylation:
text: n_linked_protein_glycosylation
description: Disorders of N-linked protein glycosylation.
is_a: congenital_disorders_of_glycosylation
o_linked_protein_glycosylation:
text: o_linked_protein_glycosylation
description: Disorders of O-linked protein glycosylation (including glycosaminoglycan
synthesis).
is_a: congenital_disorders_of_glycosylation
lipid_glycosylation:
text: lipid_glycosylation
description: Disorders of lipid glycosylation (including glycosylphosphatidylinositol
biosynthesis).
is_a: congenital_disorders_of_glycosylation
multiple_glycosylation_pathways:
text: multiple_glycosylation_pathways
description: Disorders affecting multiple glycosylation pathways (dolichol metabolism,
Golgi transport and homeostasis, sialic acid metabolism).
is_a: congenital_disorders_of_glycosylation
other_glycan_metabolism:
text: other_glycan_metabolism
description: Other disorders of glycan metabolism.
is_a: congenital_disorders_of_glycosylation
organelle_biogenesis_dynamics_and_interactions:
text: organelle_biogenesis_dynamics_and_interactions
description: 'ICIMD category 19: Disorders of organelle biogenesis, dynamics and
interactions (super-domain: complex molecule and organelle metabolism).'
mitochondrial_membrane_biogenesis_and_remodeling:
text: mitochondrial_membrane_biogenesis_and_remodeling
description: Disorders of mitochondrial membrane biogenesis and remodeling.
is_a: organelle_biogenesis_dynamics_and_interactions
mitochondrial_and_peroxisomal_dynamics:
text: mitochondrial_and_peroxisomal_dynamics
description: Disorders of mitochondrial and peroxisomal dynamics.
is_a: organelle_biogenesis_dynamics_and_interactions
peroxisomal_biogenesis:
text: peroxisomal_biogenesis
description: Peroxisomal biogenesis disorders (peroxin-related).
is_a: organelle_biogenesis_dynamics_and_interactions
lysosome_related_organelle_biogenesis:
text: lysosome_related_organelle_biogenesis
description: Disorders of lysosome-related organelle biogenesis.
is_a: organelle_biogenesis_dynamics_and_interactions
organelle_interplay:
text: organelle_interplay
description: Disorders of organelle interplay.
is_a: organelle_biogenesis_dynamics_and_interactions
vesicular_trafficking:
text: vesicular_trafficking
description: Disorders of vesicular trafficking.
is_a: organelle_biogenesis_dynamics_and_interactions
complex_molecule_degradation:
text: complex_molecule_degradation
description: 'ICIMD category 20: Disorders of complex molecule degradation (super-domain:
complex molecule and organelle metabolism); the classical lysosomal disorders.'
sphingolipid_degradation:
text: sphingolipid_degradation
description: Disorders of sphingolipid degradation (sphingolipidoses).
is_a: complex_molecule_degradation
glycosaminoglycan_degradation:
text: glycosaminoglycan_degradation
description: Disorders of glycosaminoglycan degradation (mucopolysaccharidoses).
is_a: complex_molecule_degradation
glycoprotein_degradation:
text: glycoprotein_degradation
description: Disorders of glycoprotein degradation.
is_a: complex_molecule_degradation
neuronal_ceroid_lipofuscinosis:
text: neuronal_ceroid_lipofuscinosis
description: Neuronal ceroid lipofuscinoses.
is_a: complex_molecule_degradation
autophagy:
text: autophagy
description: Disorders of autophagy.
is_a: complex_molecule_degradation
complex_molecule_degradation_other:
text: complex_molecule_degradation_other
description: Other disorders of complex molecule degradation.
is_a: complex_molecule_degradation
vitamin_and_cofactor_metabolism:
text: vitamin_and_cofactor_metabolism
description: 'ICIMD category 21: Disorders of vitamin and cofactor metabolism
(super-domain: cofactor and mineral metabolism).'
tetrahydrobiopterin_metabolism:
text: tetrahydrobiopterin_metabolism
description: Disorders of tetrahydrobiopterin metabolism.
is_a: vitamin_and_cofactor_metabolism
thiamine_metabolism:
text: thiamine_metabolism
description: Disorders of thiamine (vitamin B1) metabolism.
is_a: vitamin_and_cofactor_metabolism
riboflavin_metabolism:
text: riboflavin_metabolism
description: Disorders of riboflavin (vitamin B2) metabolism.
is_a: vitamin_and_cofactor_metabolism
niacin_and_nad_metabolism:
text: niacin_and_nad_metabolism
description: Disorders of niacin/nicotinamide (vitamin B3) and NAD metabolism.
is_a: vitamin_and_cofactor_metabolism
pantothenate_and_coa_metabolism:
text: pantothenate_and_coa_metabolism
description: Disorders of pantothenate (vitamin B5) and coenzyme A metabolism.
is_a: vitamin_and_cofactor_metabolism
pyridoxine_metabolism:
text: pyridoxine_metabolism
description: Disorders of pyridoxine (vitamin B6) metabolism.
is_a: vitamin_and_cofactor_metabolism
biotin_metabolism:
text: biotin_metabolism
description: Disorders of biotin (vitamin B7) metabolism.
is_a: vitamin_and_cofactor_metabolism
folate_metabolism:
text: folate_metabolism
description: Disorders of folate (vitamin B9) metabolism.
is_a: vitamin_and_cofactor_metabolism
cobalamin_metabolism:
text: cobalamin_metabolism
description: Disorders of cobalamin (vitamin B12) metabolism.
is_a: vitamin_and_cofactor_metabolism
molybdenum_cofactor_metabolism:
text: molybdenum_cofactor_metabolism
description: Disorders of molybdenum cofactor metabolism.
is_a: vitamin_and_cofactor_metabolism
vitamins_other:
text: vitamins_other
description: Other disorders of vitamin and cofactor metabolism.
is_a: vitamin_and_cofactor_metabolism
trace_elements_and_metals:
text: trace_elements_and_metals
description: 'ICIMD category 22: Disorders of trace elements and metals (super-domain:
cofactor and mineral metabolism).'
copper_metabolism:
text: copper_metabolism
description: Disorders of copper metabolism.
is_a: trace_elements_and_metals
iron_metabolism:
text: iron_metabolism
description: Disorders of iron metabolism.
is_a: trace_elements_and_metals
manganese_metabolism:
text: manganese_metabolism
description: Disorders of manganese metabolism.
is_a: trace_elements_and_metals
zinc_metabolism:
text: zinc_metabolism
description: Disorders of zinc metabolism.
is_a: trace_elements_and_metals
trace_element_other:
text: trace_element_other
description: Other disorders of trace element and metal metabolism.
is_a: trace_elements_and_metals
neurotransmitter_disorders:
text: neurotransmitter_disorders
description: 'ICIMD category 23: Neurotransmitter disorders (super-domain: metabolic
cell signaling).'
monoamine_metabolism:
text: monoamine_metabolism
description: Disorders of monoamine neurotransmitter metabolism.
is_a: neurotransmitter_disorders
gaba_metabolism:
text: gaba_metabolism
description: Disorders of GABA metabolism.
is_a: neurotransmitter_disorders
glutamate_neurotransmission:
text: glutamate_neurotransmission
description: Disorders of glutamate neurotransmitter function.
is_a: neurotransmitter_disorders
glycine_neurotransmission:
text: glycine_neurotransmission
description: Disorders of glycine neurotransmitter function.
is_a: neurotransmitter_disorders
choline_metabolism:
text: choline_metabolism
description: Disorders of choline metabolism.
is_a: neurotransmitter_disorders
synaptic_vesicle_cycle:
text: synaptic_vesicle_cycle
description: Disorders of the synaptic vesicle cycle.
is_a: neurotransmitter_disorders
endocrine_metabolic_disorders:
text: endocrine_metabolic_disorders
description: 'ICIMD category 24: Endocrine metabolic disorders (super-domain:
metabolic cell signaling).'
insulin_metabolism:
text: insulin_metabolism
description: Disorders affecting insulin metabolism.
is_a: endocrine_metabolic_disorders
steroid_hormone_metabolism:
text: steroid_hormone_metabolism
description: Disorders of steroid hormone metabolism.
is_a: endocrine_metabolic_disorders