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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mitochondrial trifunctional protein deficiency
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Accession:DOID:0111277 term browser browse the term
Definition:A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (DO)
Synonyms:exact_synonym: MTPD;   TFP deficiency;   TFPD;   trifunctional protein deficiency
 narrow_synonym: Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency;   Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency
 broad_synonym: HADHA-RELATED CONDITION;   HADHA-related disorder
 related_synonym: trifunctional protein deficiency with myopathy and neuropathy
 primary_id: MESH:C566945
 xref: GARD:3684;   NCI:C98991;   OMIM:PS609015;   ORDO:746


show annotations for term's descendants           Sort by:
mitochondrial trifunctional protein deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency ClinVar PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 More... NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency		 CTD
ClinVar		 PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 More... NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency ClinVar PMID:8651282 PMID:9259266 PMID:9536098 PMID:12754706 PMID:14630990 More... NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
Mitochondrial Trifunctional Protein Deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29095929 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
Mitochondrial Trifunctional Protein Deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: HADHB-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy OMIM
ClinVar		 PMID:8163672 PMID:8651282 PMID:9259266 PMID:12754706 PMID:15902556 More... NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 6
            mitochondrial trifunctional protein deficiency 3
              Mitochondrial Trifunctional Protein Deficiency 1 1
              Mitochondrial Trifunctional Protein Deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                mitochondrial trifunctional protein deficiency 3
                  Mitochondrial Trifunctional Protein Deficiency 1 1
                  Mitochondrial Trifunctional Protein Deficiency 2 1
paths to the root