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: Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Accession: DOID:9002882
browse the term
Synonyms: exact_synonym: LCHAD deficiency; LCHAD deficiency with maternal acute fatty liver of pregnancy; deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; deficiency of long-chain acyl-CoA dehydrogenase; long-chain acyl-CoA dehydrogenase deficiency
broad_synonym: HADHA-RELATED CONDITION; HADHA-related disorder
primary_id: MESH:C535690
alt_id: OMIM:609016
xref: GARD:6867 ; NCI:C129929 ; ORDO:5
G
Acadl
acyl-CoA dehydrogenase, long chain
ISO
ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:25741868
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
G
Aldob
aldolase, fructose-bisphosphate B
ISO
ClinVar Annotator: match by term: LCHAD Deficiency
ClinVar
PMID:25741868
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
G
Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12971428 PMID:14630990 PMID:15902556 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22030098 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28559085 PMID:29124685 PMID:29519241 PMID:30626930 PMID:30934865 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:33638202 PMID:34878152 PMID:35433174 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:9739053 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11243734 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12809642 PMID:12971428 PMID:14630990 PMID:14694500 PMID:15902556 PMID:16040264 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19433283 PMID:19852779 PMID:20583174 PMID:20659813 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22030098 PMID:22065858 PMID:22459206 PMID:23430857 PMID:23798014 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25087612 PMID:25525159 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28559085 PMID:29095929 PMID:29124685 PMID:29268767 PMID:29519241 PMID:30626930 PMID:30682426 PMID:30934865 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:33638202 PMID:34878152 PMID:35281663 PMID:35433174 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
G
Hmgcl
3-hydroxy-3-methylglutaryl-CoA lyase
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
PMID:8798725 PMID:9439591 PMID:9463337 PMID:9784232 PMID:9817922 PMID:10916782 PMID:14518825 PMID:15122894 PMID:15308132 PMID:16199547 PMID:16330550 PMID:17173698 PMID:17692550 PMID:19036343 PMID:19177531 PMID:19932602 PMID:23465862 PMID:25741868 PMID:25872961 PMID:28488182 PMID:28492532 PMID:28583327 PMID:28747690 More...
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
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 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12971428 PMID:14630990 PMID:15902556 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28559085 PMID:29124685 PMID:29519241 PMID:30626930 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:32860008 PMID:34878152 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
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 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:9739053 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11243734 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12809642 PMID:12971428 PMID:14630990 PMID:14694500 PMID:15902556 PMID:16040264 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19433283 PMID:19852779 PMID:20583174 PMID:20659813 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22065858 PMID:22459206 PMID:23430857 PMID:23798014 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25087612 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28559085 PMID:29095929 PMID:29124685 PMID:29268767 PMID:29519241 PMID:30626930 PMID:30682426 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:32860008 PMID:34878152 PMID:35281663 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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 PMID:14694500 PMID:15902556 PMID:16199547 PMID:16423905 PMID:16523289 PMID:17143551 PMID:17576681 PMID:19699128 PMID:19880769 PMID:21549624 PMID:22000755 PMID:22494545 PMID:23757202 PMID:24033266 PMID:24314034 PMID:24379101 PMID:24664533 PMID:25741868 PMID:26109258 PMID:27014569 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28871440 PMID:29956646 PMID:30682426 PMID:31130284 PMID:34543737 PMID:34578803 PMID:35383965 PMID:35403730 PMID:35433169 More...
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
G
Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Trifunctional protein deficiency type 1
ClinVar
PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:9003853 PMID:9266371 PMID:10352164 PMID:10518281 PMID:11773547 PMID:14630990 PMID:15902556 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:23430857 PMID:23868323 PMID:24033266 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27117294 PMID:27491397 PMID:28492532 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Trifunctional protein deficiency type 1
OMIM ClinVar
PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:9003853 PMID:9266371 PMID:10352164 PMID:10518281 PMID:11773547 PMID:12237653 PMID:12809642 PMID:14630990 PMID:15902556 PMID:16040264 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27117294 PMID:27491397 PMID:28492532 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
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 PMID:16423905 PMID:19699128 PMID:19880769 PMID:22382802 PMID:22494545 PMID:24664533 PMID:25741868 PMID:28492532 PMID:28515471 PMID:29956646 More...
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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