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hypogonadotropic hypogonadism 1 with or without anosmia
Summary
- Synonym
-
- dysplasia olfactogenitalis of de morsier
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
- Super Class
- X-linked recessive disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090094
- 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
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 | |
| P05362 | Intercellular adhesion molecule 1 | |
| P08174 | Complement decay-accelerating factor | |
| P08842 | Steryl-sulfatase | |
| P11766 | Alcohol dehydrogenase class-3 | |
| P16070 | CD44 antigen | |
| P19971 | Thymidine phosphorylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000939 | Osteoporosis |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
| HP:0001288 | Gait disturbance |
| HP:0001324 | Muscle weakness |
| HP:0001335 | Bimanual synkinesia |
| HP:0001337 | Tremor |
| HP:0001513 | Obesity |
