loading...| Preferred Name | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA | |
| Synonyms |
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER KMS KAL1 HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA HHA ANOSMIC HYPOGONADISM HH1 KALLMANN SYNDROME 1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/308700 |
|
| altLabel |
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER KMS KAL1 HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA HHA ANOSMIC HYPOGONADISM HH1 KALLMANN SYNDROME 1 |
|
| cui |
C0162809 C1563719 |
|
| Gene Locus |
Xp22.31 |
|
| Gene Symbol |
HH1 ADMLX KMS KAL1 ANOS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU046373 http://purl.bioontology.org/ontology/OMIM/MTHU057089 http://purl.bioontology.org/ontology/OMIM/MTHU057087 http://purl.bioontology.org/ontology/OMIM/MTHU067279 http://purl.bioontology.org/ontology/OMIM/MTHU057094 http://purl.bioontology.org/ontology/OMIM/MTHU048866 http://purl.bioontology.org/ontology/OMIM/MTHU037275 http://purl.bioontology.org/ontology/OMIM/MTHU057086 http://purl.bioontology.org/ontology/OMIM/MTHU000574 http://purl.bioontology.org/ontology/OMIM/MTHU068161 http://purl.bioontology.org/ontology/OMIM/MTHU068162 http://purl.bioontology.org/ontology/OMIM/MTHU057085 http://purl.bioontology.org/ontology/OMIM/MTHU007248 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU057084 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
308700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA |
|
| Scope Statement |
Caused by mutation in the KAL1 gene gene (KAL1, 300836.0001) [MOLECULAR BASIS] Heterozygous females may be susceptible to functional hypothalamic amenorrhea [MISCELLANEOUS] |
|
| tui |
T047 |