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hypogonadotropic hypogonadism 12 with or without anosmia
Summary
- Synonym
-
- familial hypogonadotrophic eunuchoidism
- familial idiopathic gonadotrpin deficiency
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.
- Super Class
- autosomal recessive disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090072
- 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
- MGI genotype (from TogoID)
Related Genes
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:0000044 | Hypogonadotropic hypogonadism |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0000739 | Anxiety |
| HP:0008734 | Decreased testicular size |
| HP:0000823 | Delayed puberty |
| HP:0000164 | Abnormality of the dentition |
| HP:0003187 | Breast hypoplasia |
| HP:0000002 | Abnormality of body height |
| HP:0000939 | Osteoporosis |
