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MIRAGE
hypogonadotropic hypogonadism 5 with or without anosmia
Summary
- Definition
- A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.
- Super Class
- autosomal dominant disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090084
- 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 |
|---|---|---|
| Q9P2D1 | Chromodomain-helicase-DNA-binding protein 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001608 | Abnormality of the voice |
| HP:0006610 | Wide intermamillary distance |
| HP:0000316 | Hypertelorism |
| HP:0000054 | Micropenis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003782 | Eunuchoid habitus |
| HP:0000134 | Female hypogonadism |
| HP:0000164 | Abnormality of the dentition |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0000869 | Secondary amenorrhea |
