Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/300972
http://purl.bioontology.org/ontology/OMIM/300972
Preferred Name

IMMUNODEFICIENCY 47
Synonyms
IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES
CDG2S
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIs
CDGIIs
CDG IIs
IMD47
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES
CDG2S
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIs
CDGIIs
CDG IIs
IMD47
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prefLabel
IMMUNODEFICIENCY 47
Gene Symbol
ATP6AP1
ATP6IP1
VATPS1
ATP6S1
Scope Statement
Variable severity [MISCELLANEOUS]
Caused by mutation in the ATPase, H+ transporting, lysosomal, accessory protein 1 gene (ATP6AP1, 300197.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU036686
http://purl.bioontology.org/ontology/OMIM/MTHU006920
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU053962
http://purl.bioontology.org/ontology/OMIM/MTHU010290
http://purl.bioontology.org/ontology/OMIM/MTHU008716
http://purl.bioontology.org/ontology/OMIM/MTHU020179
http://purl.bioontology.org/ontology/OMIM/MTHU071554
http://purl.bioontology.org/ontology/OMIM/MTHU046632
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU001486
http://purl.bioontology.org/ontology/OMIM/MTHU053964
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU030536
http://purl.bioontology.org/ontology/OMIM/MTHU001684
http://purl.bioontology.org/ontology/OMIM/MTHU024633
http://purl.bioontology.org/ontology/OMIM/MTHU037221
http://purl.bioontology.org/ontology/OMIM/MTHU053963
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU012768
http://purl.bioontology.org/ontology/OMIM/MTHU053965
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU002081
http://purl.bioontology.org/ontology/OMIM/MTHU036911
http://purl.bioontology.org/ontology/OMIM/MTHU032155
http://purl.bioontology.org/ontology/OMIM/MTHU011439
http://purl.bioontology.org/ontology/OMIM/MTHU001436
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
Xq28
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
300972
Semantic type UMLS property
Has inheritance type
cui
C4310819
OMIM Entry Type
3
OMIM MimType Value
pound
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