Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/308300
http://purl.bioontology.org/ontology/OMIM/308300
Preferred Name

INCONTINENTIA PIGMENTI
Synonyms
BLOCH-SULZBERGER SYNDROME
INCONTINENTIA PIGMENTI, TYPE II, FORMERLY
INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE
IP
IP2, FORMERLY
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BLOCH-SULZBERGER SYNDROME
INCONTINENTIA PIGMENTI, TYPE II, FORMERLY
INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE
IP
IP2, FORMERLY
prefLabel
INCONTINENTIA PIGMENTI
Gene Symbol
IP
NEMO
EDAID1
IMD33
IKBKG
FIP3
SAIDX
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Scope Statement
Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU007399
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU036684
http://purl.bioontology.org/ontology/OMIM/MTHU007408
http://purl.bioontology.org/ontology/OMIM/MTHU007418
http://purl.bioontology.org/ontology/OMIM/MTHU007417
http://purl.bioontology.org/ontology/OMIM/MTHU054086
http://purl.bioontology.org/ontology/OMIM/MTHU007415
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU038297
http://purl.bioontology.org/ontology/OMIM/MTHU000607
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU007416
http://purl.bioontology.org/ontology/OMIM/MTHU004591
http://purl.bioontology.org/ontology/OMIM/MTHU007420
http://purl.bioontology.org/ontology/OMIM/MTHU007395
http://purl.bioontology.org/ontology/OMIM/MTHU007409
http://purl.bioontology.org/ontology/OMIM/MTHU007390
http://purl.bioontology.org/ontology/OMIM/MTHU007389
http://purl.bioontology.org/ontology/OMIM/MTHU036935
http://purl.bioontology.org/ontology/OMIM/MTHU007403
http://purl.bioontology.org/ontology/OMIM/MTHU054085
http://purl.bioontology.org/ontology/OMIM/MTHU007423
http://purl.bioontology.org/ontology/OMIM/MTHU007401
http://purl.bioontology.org/ontology/OMIM/MTHU007392
http://purl.bioontology.org/ontology/OMIM/MTHU007422
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU007404
http://purl.bioontology.org/ontology/OMIM/MTHU007402
http://purl.bioontology.org/ontology/OMIM/MTHU007419
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU036527
http://purl.bioontology.org/ontology/OMIM/MTHU007414
http://purl.bioontology.org/ontology/OMIM/MTHU007398
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU036562
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU007406
http://purl.bioontology.org/ontology/OMIM/MTHU007405
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU007410
http://purl.bioontology.org/ontology/OMIM/MTHU007412
http://purl.bioontology.org/ontology/OMIM/MTHU007421
http://purl.bioontology.org/ontology/OMIM/MTHU038298
http://purl.bioontology.org/ontology/OMIM/MTHU007407
http://purl.bioontology.org/ontology/OMIM/MTHU007411
http://purl.bioontology.org/ontology/OMIM/MTHU007424
http://purl.bioontology.org/ontology/OMIM/MTHU023711
http://purl.bioontology.org/ontology/OMIM/MTHU007413
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU007391
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
Xq28
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
308300
Semantic type UMLS property
Has inheritance type
cui
C2930820
C0021171
Moved from
308310
OMIM Entry Type
3
OMIM MimType Value
pound
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