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Guidelines
MIRAGE
hypogonadotropic hypogonadism 8 with or without anosmia
Summary
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.
- Super Class
- autosomal recessive disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090074
- 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
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q969F8 | KiSS-1 receptor |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91V45 | KiSS-1 receptor |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001335 | Bimanual synkinesia |
| HP:0009804 | Tooth agenesis |
| HP:0002757 | Recurrent fractures |
| HP:0000551 | Color vision defect |
| HP:0001761 | Pes cavus |
| HP:0004409 | Hyposmia |
| HP:0001252 | Hypotonia |
| HP:0000505 | Visual impairment |
| HP:0002652 | Skeletal dysplasia |
| HP:0001288 | Gait disturbance |
