Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/309541
http://purl.bioontology.org/ontology/OMIM/309541
Preferred Name

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE
Synonyms
MAHCX
MRX3
MENTAL RETARDATION, X-LINKED 3
XLID3
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MAHCX
MRX3
MENTAL RETARDATION, X-LINKED 3
XLID3
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
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prefLabel
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE
Gene Symbol
XLID3
MAHCX
HCF1
HCFC1
Scope Statement
Caused by mutation in the host cell factor C1 gene (HCFC1, 300019.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU032853
http://purl.bioontology.org/ontology/OMIM/MTHU006120
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU004613
http://purl.bioontology.org/ontology/OMIM/MTHU003622
http://purl.bioontology.org/ontology/OMIM/MTHU021792
http://purl.bioontology.org/ontology/OMIM/MTHU028684
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU037634
http://purl.bioontology.org/ontology/OMIM/MTHU037510
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU037722
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tui
T047
Gene Locus
Xq28
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
309541
Semantic type UMLS property
Has inheritance type
cui
C0796208
OMIM Entry Type
3
OMIM MimType Value
pound
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