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Guidelines
MIRAGE
hypogonadotropic hypogonadism 3 with or without anosmia
Summary
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.
- Super Class
- autosomal dominant disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090092
- 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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NFJ6 | Prokineticin receptor 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008197 | Absence of pubertal development |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0008734 | Decreased testicular size |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0012385 | Camptodactyly |
| HP:0000008 | Abnormal morphology of female internal genitalia |
| HP:0000104 | Renal agenesis |
| HP:0000144 | Decreased fertility |
| HP:0000407 | Sensorineural hearing impairment |
