ONKI3 | Medical Subject Headings

The ONKI is provided as a part of the ONKI Living Lab - an open lab for testing the latest semantic web technologies in practice, with real users like you. Currently, over 10 000 people are using ONKI each month.

We hope you like the ONKI service and enjoy using it for your purposes!

If you encounter any problems or have improvement ideas, please contact the ONKI team. We are also very much interested in your success stories in using ONKI - please share your experiences!

The ONKI Team

Jouni Tuominen, Living Lab contact person, APIs, widgets, publishing of ontologies, etc.
Eero Hyvönen, professor, head of research group

Former members: Kim Viljanen, Rami Alatalo.

Building the future of the Semantic Web and beyond.

SeCo's homepage
For the latest semantic news, follow us on Twitter and fan us on Facebook!

How can we help you?

Live presentations about ONKI: what it is? how to use it?
Support for creating and publishing ontologies.
Online technical support for using ONKI.
Co-operation in projects.
And more, please ask.

suomeksi på svenska in English

The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Hyper-IgM Immunodeficiency Syndrome, Type 1

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 19 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Hematologic Diseases ∟ Blood Protein Disorders ∟ Dysgammaglobulinemia ∟ Hyper-IgM Immunodeficiency Syndrome ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 19 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases Medical Subject Headings (MeSH) ∟ Immune System Diseases ∟ Immunologic Deficiency Syndromes ∟ Dysgammaglobulinemia ∟ Hyper-IgM Immunodeficiency Syndrome ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 19 coordinate concepts ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Ichthyosis, X-Linked \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Hematologic Diseases ∟ Blood Protein Disorders ∟ Dysgammaglobulinemia ∟ Hyper-IgM Immunodeficiency Syndrome ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 Medical Subject Headings (MeSH) ∟ Immune System Diseases ∟ Immunologic Deficiency Syndromes ∟ Dysgammaglobulinemia ∟ Hyper-IgM Immunodeficiency Syndrome ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 Genetic Diseases, X-Linked > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hyper-IgM Immunodeficiency Syndrome > Dysgammaglobulinemia > Blood Protein Disorders > Hematologic Diseases > Hemic and Lymphatic Diseases > Medical Subject Headings (MeSH) Hyper-IgM Immunodeficiency Syndrome > Dysgammaglobulinemia > Immunologic Deficiency Syndromes > Immune System Diseases > Medical Subject Headings (MeSH) X
History note:	CD40 Ligand (2000-2006) \| Immunologic Deficiency Syndromes (1995-2006)X
historyNote*:	2007 X
publicMeSHNote*:	2007 X
Scope note:	An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND. X
activeMeSHYear*:	2007X
dateCreated*:	2006-07-05X
dateEstablished*:	2007-01-01X
recordAuthorizer*:	sjnX
recordMaintainer*:	jmpX
recordOriginator*:	jmpX
Type:	Concept X
Coordinate terms:	Androgen-Insensitivity Syndrome \| Choroideremia \| Dyskeratosis Congenita \| Ectodermal Dysplasia 1, Anhidrotic \| Fabry Disease \| Focal Dermal Hypoplasia \| Glycogen Storage Disease Type IIb \| Glycogen Storage Disease Type VIII \| Granulomatous Disease, Chronic \| Hemophilia B \| Hypophosphatemic Rickets, X-Linked Dominant \| Ichthyosis, X-Linked \| Mental Retardation, X-Linked \| Muscular Dystrophy, Duchenne \| Muscular Dystrophy, Emery-Dreifuss \| Oculocerebrorenal Syndrome \| Pelizaeus-Merzbacher Disease \| Wiskott-Aldrich Syndrome \| X-Linked Combined Immunodeficiency Diseases X
URI:	X
Labels and equivalent concepts:	Hyper-IgM-immuunivajausoireyhtymä, tyyppi 1 (fi) Hyper-IgM Syndrome 1 (en, replaced) Hyper-IgM Immunodeficiency, X-Linked (en, replaced) HIGM1 Syndrome (en, replaced) X
Share:	X