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hypogonadotropic hypogonadism 15 with or without anosmia
Summary
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.
- Super Class
- autosomal dominant disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090075
- 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:0013946
- 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 | Organism |
|---|---|---|---|---|
| 373566 | hs6st1.S | heparan sulfate 6-O-sulfotransferase 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 550071 | hs6st1 | heparan sulfate 6-O-sulfotransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108717161 | hs6st1.L | heparan sulfate 6-O-sulfotransferase 1 L homeolog | Xenopus laevis (African clawed frog) |
- 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 |
