loading...| Preferred Name | Kallmann Syndrome [Disease/Finding] | |
| Synonyms |
Kallmann's Syndrome Kallmann Syndrome Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Dysplasia Olfactogenitalis of De Morsier Anosmic Hypogonadism |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003572 |
|
| altLabel |
Kallmann's Syndrome Kallmann Syndrome Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Dysplasia Olfactogenitalis of De Morsier Anosmic Hypogonadism |
|
| cui |
C0162809 |
|
| MESH DEFINITION |
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. |
|
| MESH DUI |
D017436 |
|
| MeSH name |
Kallmann Syndrome |
|
| MESH UI |
M0026453 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003572 |
|
| NUI |
N0000003572 |
|
| prefLabel |
Kallmann Syndrome [Disease/Finding] |
|
| SNOMED CID |
93559003 |
|
| tui |
T047 |
|
| subClassOf |