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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 |
|---|---|---|---|
| 2817 | GPC1 | glypican 1 | |
| 3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
| 3636 | INPPL1 | inositol polyphosphate phosphatase like 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4023 | LPL | lipoprotein lipase | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 |
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 |
