MCID: GRW044
MIFTS: 6

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Categories: Blood diseases, Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

MalaCards integrated aliases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2:

Name: Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080837

Summaries for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Disease Ontology : 12 A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has material basis in heterozygous mutation in the STAT5B gene on chromosome 17q21.

MalaCards based summary : Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 is related to growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant. An important gene associated with Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 is STAT5B (Signal Transducer And Activator Of Transcription 5B).

Related Diseases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Diseases in the Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive family:

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Diseases related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 12.1

Symptoms & Phenotypes for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Drugs & Therapeutics for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Genetic Tests for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Anatomical Context for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Publications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Expression for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search GEO for disease gene expression data for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2.

Pathways for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

GO Terms for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Sources for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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