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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 | Organism |
|---|---|---|---|---|
| 397782 | fgfr1.S | fibroblast growth factor receptor 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 399444 | fgfr1.L | fibroblast growth factor receptor 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 548648 | fgfr1 | fibroblast growth factor receptor 1 | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000939 | Osteoporosis |
| HP:0001608 | Abnormality of the voice |
| HP:0002231 | Sparse body hair |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002761 | Generalized joint hypermobility |
| HP:0003187 | Breast hypoplasia |
| HP:0003782 | Eunuchoid habitus |
| HP:0005280 | Depressed nasal bridge |
| HP:0006610 | Wide intermamillary distance |
| HP:0008187 | Absence of secondary sex characteristics |
