Entry Search - 300248 308300 - OMIM
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Search: '300248 308300 (Search in: MIM number)'
Results: 2 entries.

1:
* 300248. INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, REGULATORY SUBUNIT GAMMA; IKBKG
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,541,238-154,565,046
Matching terms: 300248
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xq28 Autoinflammatory disease, systemic, X-linked 301081 XL 3
Ectodermal dysplasia and immunodeficiency 1 300291 XLR 3
Immunodeficiency 33 300636 XLR 3
Incontinentia pigmenti 308300 XLD 3
ICD+
SNOMEDCT: 367520004
ICD10CM: Q82.3

2:
# 308300. INCONTINENTIA PIGMENTI; IP
Cytogenetic location: Xq28
Matching terms: 308300
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq28 Incontinentia pigmenti 308300 XLD 3 IKBKG 300248
ICD+
SNOMEDCT: 367520004
ICD10CM: Q82.3
ORPHA: 464
DO: 12305
Search: 300248 308300 (Search in: MIM number)
Results: 2 entries.

1:
* 300248. INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, REGULATORY SUBUNIT GAMMA; IKBKG
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,541,238-154,565,046
Matching terms: 300248

2:
# 308300. INCONTINENTIA PIGMENTI; IP
Cytogenetic location: Xq28
Matching terms: 308300