Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614857
http://purl.bioontology.org/ontology/OMIM/614857
Preferred Name

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
Synonyms
MAHCJ
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MAHCJ
prefLabel
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
Gene Symbol
P79R
PXMP1L
MAHCJ
ABCD4
PMP69
Scope Statement
Two unrelated patients have been reported (last curated October 2012) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the ATP-binding cassette, subfamily D, member 4 gene (ABCD4, 603214.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001686
http://purl.bioontology.org/ontology/OMIM/MTHU065640
http://purl.bioontology.org/ontology/OMIM/MTHU008825
http://purl.bioontology.org/ontology/OMIM/MTHU002225
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU043432
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU028684
http://purl.bioontology.org/ontology/OMIM/MTHU008858
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU028681
http://purl.bioontology.org/ontology/OMIM/MTHU008826
http://purl.bioontology.org/ontology/OMIM/MTHU000564
http://purl.bioontology.org/ontology/OMIM/MTHU037634
http://purl.bioontology.org/ontology/OMIM/MTHU067220
http://purl.bioontology.org/ontology/OMIM/MTHU037510
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU028680
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU007826
http://purl.bioontology.org/ontology/OMIM/MTHU004003
http://purl.bioontology.org/ontology/OMIM/MTHU037872
http://purl.bioontology.org/ontology/OMIM/MTHU036852
http://purl.bioontology.org/ontology/OMIM/MTHU001720
http://purl.bioontology.org/ontology/OMIM/MTHU037722
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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tui
T047
Gene Locus
14q24.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614857
Semantic type UMLS property
Has inheritance type
cui
C3553915
OMIM Entry Type
3
OMIM MimType Value
pound
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