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Standards Ontologies Notations
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 61 - 68 of 68 in total
HPO ID HPO Term
HP:0000830 Anterior hypopituitarism
HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency
HP:0100639 Erectile dysfunction
HP:0001324 Muscle weakness
HP:0008736 Hypoplasia of penis
HP:0000508 Ptosis
HP:0004349 Reduced bone mineral density
HP:0001251 Ataxia
Displaying 1 entry
Gene ID Gene Symbol Description
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
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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

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Last updated: December 9, 2024