Closed vjenkinsFB closed 1 month ago
Hi @vjenkinsFB,
Thank you for your request . We'll review your new term request for Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.
Best, Claudia Marie Sánchez-Beato Johnson
This disease will be in the next release as 'mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' (DOID:0070540).
I'd like to request a term for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.
OMIM: https://www.omim.org/entry/616277
Potential definition: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency has_material_basis_in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.
Potential parent term: amino acid metabolic disorder
Synonyms: ECHS1D; ECHS1 deficiency
ClinVar search term: ECHS1 AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])
MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4225391
MalaCards page: https://www.malacards.org/card/mitochondrial_short_chain_enoyl_coa_hydratase_1_deficiency
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3151
Citations other than those in the OMIM entry (more available):
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!