Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

Synonyms

MTDPS4A

ID

http://purl.bioontology.org/ontology/OMIM/203700

altLabel

MTDPS4A

ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY

ALPERS-HUTTENLOCHER SYNDROME

ALPERS SYNDROME

NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

PNDC

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

cui

C0205710

Gene Locus

15q25

Gene Symbol

POLG1

SANDO

MTDPS4B

MTDPS4A

PEO

MIRAS

SCAE

POLGA

POLG

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011727

http://purl.bioontology.org/ontology/OMIM/MTHU002596

http://purl.bioontology.org/ontology/OMIM/MTHU027651

http://purl.bioontology.org/ontology/OMIM/MTHU014548

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU010474

http://purl.bioontology.org/ontology/OMIM/MTHU027649

http://purl.bioontology.org/ontology/OMIM/MTHU000302

http://purl.bioontology.org/ontology/OMIM/MTHU014558

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU027653

http://purl.bioontology.org/ontology/OMIM/MTHU002543

http://purl.bioontology.org/ontology/OMIM/MTHU014561

http://purl.bioontology.org/ontology/OMIM/MTHU037241

http://purl.bioontology.org/ontology/OMIM/MTHU014568

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU014553

http://purl.bioontology.org/ontology/OMIM/MTHU014566

http://purl.bioontology.org/ontology/OMIM/MTHU014556

http://purl.bioontology.org/ontology/OMIM/MTHU014551

http://purl.bioontology.org/ontology/OMIM/MTHU010666

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU014565

http://purl.bioontology.org/ontology/OMIM/MTHU006303

http://purl.bioontology.org/ontology/OMIM/MTHU000777

http://purl.bioontology.org/ontology/OMIM/MTHU027648

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU014549

http://purl.bioontology.org/ontology/OMIM/MTHU014557

http://purl.bioontology.org/ontology/OMIM/MTHU027652

http://purl.bioontology.org/ontology/OMIM/MTHU027650

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU014554

http://purl.bioontology.org/ontology/OMIM/MTHU037238

http://purl.bioontology.org/ontology/OMIM/MTHU014552

http://purl.bioontology.org/ontology/OMIM/MTHU014567

http://purl.bioontology.org/ontology/OMIM/MTHU014555

http://purl.bioontology.org/ontology/OMIM/MTHU002769

http://purl.bioontology.org/ontology/OMIM/MTHU037240

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU014560

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000964

http://purl.bioontology.org/ontology/OMIM/MTHU027647

http://purl.bioontology.org/ontology/OMIM/MTHU000136

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

203700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

tui

T047

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http://purl.bioontology.org/ontology/MESH/D002549 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.81 International Classification of Diseases, Version 10 - Clinical Modification CUI