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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 |
|---|---|---|---|
| 3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
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:0000002 | Abnormality of body height |
| HP:0000008 | Abnormal morphology of female internal genitalia |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000026 | Male hypogonadism |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000054 | Micropenis |
| HP:0000104 | Renal agenesis |
| HP:0000118 | Phenotypic abnormality |
