ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1

EDAID1

http://purl.bioontology.org/ontology/OMIM/300291

EDAID1

HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA

HEDID

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA

XHMED

OLEDAID

ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

C1846006

C1845919

C1846008

Xq28

IKBKG

IP

EDAID1

FIP3

SAIDX

NEMO

IMD33

http://purl.bioontology.org/ontology/OMIM/MTHU012134

http://purl.bioontology.org/ontology/OMIM/MTHU001816

http://purl.bioontology.org/ontology/OMIM/MTHU067968

http://purl.bioontology.org/ontology/OMIM/MTHU008316

http://purl.bioontology.org/ontology/OMIM/MTHU000002

http://purl.bioontology.org/ontology/OMIM/MTHU067978

http://purl.bioontology.org/ontology/OMIM/MTHU067970

http://purl.bioontology.org/ontology/OMIM/MTHU067976

http://purl.bioontology.org/ontology/OMIM/MTHU001684

http://purl.bioontology.org/ontology/OMIM/MTHU067972

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU067974

http://purl.bioontology.org/ontology/OMIM/MTHU007448

http://purl.bioontology.org/ontology/OMIM/MTHU007743

http://purl.bioontology.org/ontology/OMIM/MTHU056843

http://purl.bioontology.org/ontology/OMIM/MTHU005937

http://purl.bioontology.org/ontology/OMIM/MTHU067969

http://purl.bioontology.org/ontology/OMIM/MTHU053855

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU039050

http://purl.bioontology.org/ontology/OMIM/MTHU067975

http://purl.bioontology.org/ontology/OMIM/MTHU067973

http://purl.bioontology.org/ontology/OMIM/MTHU067979

http://purl.bioontology.org/ontology/OMIM/MTHU031370

http://purl.bioontology.org/ontology/OMIM/MTHU067971

http://purl.bioontology.org/ontology/OMIM/MTHU067977

http://purl.bioontology.org/ontology/OMIM/MTHU021366

http://purl.bioontology.org/ontology/OMIM/MTHU002570

Phenotype description, molecular basis known.

300301

300291

3

pound

ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1

Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0002) [MOLECULAR BASIS]

Carrier mothers may have conical teeth, hypodontia, or IP [MISCELLANEOUS]

Laboratory abnormalities may be subtle and may change over time [MISCELLANEOUS]

Treatment with IVIg is beneficial [MISCELLANEOUS]

Onset usually in infancy or early childhood [MISCELLANEOUS]

Highly variable severity [MISCELLANEOUS]

T047