JSON

mitochondrial DNA depletion syndrome 4a

^ http://purl.obolibrary.org/obo/MONDO_0008758

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. [ Orphanet:726 ]

Term info

database cross reference
  • MedDRA:10062943 (Orphanet:726/e)
  • DOID:1442 (MONDO:equivalentObsolete)
  • UMLS:C0205710 (Orphanet:726/e)
  • DOID:0080122 (MONDO:equivalentTo)
  • SCTID:20415001 (MONDO:equivalentTo)
  • OMIM:203700 (Orphanet:726/e)
  • NCIT:C35257 (MONDO:equivalentTo)
  • Orphanet:726 (OMIM:203700)
  • GARD:0005783 (MONDO:equivalentTo)
  • ICD9:330.8 (MONDO:relatedTo)
Subsets

ordo_disease

abbreviation
AHS [ NCIT:C35257 ]

abbreviation
AHD [ NCIT:C35257 ]

abbreviation
MTDPS4A [ MONDO:Lexical OMIM:203700 ]

abbreviation
PNDC [ GARD:0005783 ]

closeMatch

http://identifiers.org/meddra/10062943

definition

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0205710, http://identifiers.org/snomedct/20415001, http://purl.obolibrary.org/obo/NCIT_C35257, https://omim.org/entry/203700, http://purl.obolibrary.org/obo/Orphanet_726, http://purl.obolibrary.org/obo/DOID_0080122

has exact synonym

Alpers' disease or gray-matter degeneration, progressive neuronal degeneration of childhood with liver disease, Alper's syndrome, Alpers syndrome, Alpers progressive infantile poliodystrophy, AHS, Alpers Huttenlocher disease, Alpers-Huttenlocher syndrome, Alpers Huttenlocher syndrome, Alpers progressive sclerosing poliodystrophy, Alper syndrome, mitochondrial DNA depletion syndrome type 4a, mitochondrial DNA depletion syndrome 4A, progressive sclerosing poliodystrophy, Alpers disease, AHD

has related synonym

neuronal Degeneration of childhood with liver disease, progressive, infantile poliodystrophy, Poliodystrophia cerebri progressiva, Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis, MTDPS4A, PNDC, diffuse cerebral degeneration in infancy, progressive cerebral poliodystrophy, mitochondrial DNA depletion syndrome 4A (Alpers type)

id

MONDO:0008758