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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 |
|---|---|---|---|
| 128 | ADH5 | alcohol dehydrogenase 5 (class III), chi polypeptide | |
| 412 | STS | steroid sulfatase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1890 | TYMP | thymidine phosphorylase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2710 | GK | glycerol kinase | |
| 2817 | GPC1 | glypican 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O60243 | Heparan-sulfate 6-O-sulfotransferase 1 | |
| O75326 | Semaphorin-7A | |
| P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
| P08174 | Complement decay-accelerating factor | |
| P08842 | Steryl-sulfatase | |
| P11766 | Alcohol dehydrogenase class-3 | |
| P16070 | CD44 antigen | |
| P19971 | Thymidine phosphorylase | |
| P21589 | 5'-nucleotidase |
- 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 |
