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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isolated growth hormone deficiency
Summary
- Synonym
-
- IGHD
- congenital IGHD
- congenital isolated GH deficiency
- congenital isolated growth hormone deficiency
- familial isolated growth hormone deficiency
- non-acquired isolated growth hormone deficiency
- Definition
- A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
- Super Class
- hypopituitarism
External Links
- Disease Ontology
- DOID:0060870
- Mondo Disease Ontology
-
- MONDO:0000050
- MONDO:0005152
- MONDO:0006909
- MONDO:0007794
- MONDO:0007844
- MONDO:0009482
- MONDO:0010635
- MONDO:0012528
- MONDO:0012880
- MONDO:0012988
- MONDO:0013099
- MONDO:0013910
- MONDO:0013911
- MONDO:0013912
- MONDO:0013913
- MONDO:0013914
- MONDO:0013915
- MONDO:0013926
- MONDO:0013961
- MONDO:0014102
- MONDO:0014103
- MONDO:0014105
- MONDO:0014106
- MONDO:0014107
- MONDO:0014461
- MONDO:0015127
- MONDO:0015770
- MONDO:0015789
- MONDO:0016384
- MONDO:0016553
- MONDO:0018555
- MONDO:0018762
- MONDO:0018800
- MONDO:0019032
- MONDO:0019614
- MONDO:0019617
- MONDO:0019618
- MONDO:0019824
- MONDO:0019832
- MONDO:0019841
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
| 148738 | HJV | hemojuvelin BMP co-receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase | |
| P21589 | 5'-nucleotidase | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
| P32004 | Neural cell adhesion molecule L1 | |
| P32189 | Glycerol kinase | |
| P35052 | Glypican-1 | |
| P35610 | Sterol O-acyltransferase 1 | |
| P54826 | Growth arrest-specific protein 1 | |
| Q6ZVN8 | Hemojuvelin | |
| Q86Y38 | Xylosyltransferase 1 |
