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hypogonadotropic hypogonadism 2 with or without anosmia
Summary
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
- Super Class
- autosomal dominant disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090083
- Mondo Disease Ontology
-
- MONDO:0005152
- 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
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| 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 | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001608 | Abnormality of the voice |
| HP:0001761 | Pes cavus |
| HP:0001763 | Pes planus |
| HP:0002231 | Sparse body hair |
| HP:0002652 | Skeletal dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002757 | Recurrent fractures |
| HP:0002761 | Generalized joint hypermobility |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency |
| HP:0003187 | Breast hypoplasia |
