Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
Guidelines
MIRAGE
hypogonadotropic hypogonadism 2 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
Super Class
autosomal dominant disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090083
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14182 Fgfr1 fibroblast growth factor receptor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
79114 Fgfr1 Fibroblast growth factor receptor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
42160 htl heartless
Displaying 1 entry
Gene ID Gene Symbol Description Source
30705 fgfr1a fibroblast growth factor receptor 1a
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
397782 fgfr1.S fibroblast growth factor receptor 1 S homeolog Xenopus laevis (African clawed frog)
399444 fgfr1.L fibroblast growth factor receptor 1 L homeolog Xenopus laevis (African clawed frog)
548648 fgfr1 fibroblast growth factor receptor 1 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 68 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.1

Last updated: February 17, 2025