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Standards Ontologies Notations
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
OMIM
Related Genes
Displaying entries 1 - 10 of 23 in total
Gene ID Gene Symbol Description Source
128 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
412 STS steroid sulfatase
960 CD44 CD44 molecule (IN blood group)
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1604 CD55 CD55 molecule (Cromer blood group)
1890 TYMP thymidine phosphorylase
2619 GAS1 growth arrest specific 1
2710 GK glycerol kinase
2817 GPC1 glypican 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 61 - 68 of 68 in total
HPO ID HPO Term
HP:0008734 Decreased testicular size
HP:0008736 Hypoplasia of penis
HP:0009804 Tooth agenesis
HP:0010550 Paraplegia
HP:0011961 Non-obstructive azoospermia
HP:0012385 Camptodactyly
HP:0030680 Abnormal cardiovascular system morphology
HP:0100639 Erectile dysfunction
Displaying 1 entry
Gene ID Gene Symbol Description
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024