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Standards Ontologies Notations
hypogonadotropic hypogonadism 15 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.
Super Class
autosomal dominant disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090075
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
50785 Hs6st1 heparan sulfate 6-O-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
316325 Hs6st1 heparan sulfate 6-O-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
42380 Hs6st Heparan sulfate 6-O-sulfotransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
553162 hs6st1a heparan sulfate 6-O-sulfotransferase 1a
791107 hs6st1b heparan sulfate 6-O-sulfotransferase 1b
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
373566 hs6st1.S heparan sulfate 6-O-sulfotransferase 1 S homeolog Xenopus laevis (African clawed frog)
550071 hs6st1 heparan sulfate 6-O-sulfotransferase 1 Xenopus tropicalis (tropical clawed frog)
108717161 hs6st1.L heparan sulfate 6-O-sulfotransferase 1 L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 41 - 50 of 71 in total
HPO ID HPO Term
HP:0001335 Bimanual synkinesia
HP:0009804 Tooth agenesis
HP:0002757 Recurrent fractures
HP:0000551 Color vision defect
HP:0001761 Pes cavus
HP:0004409 Hyposmia
HP:0001252 Hypotonia
HP:0000505 Visual impairment
HP:0002652 Skeletal dysplasia
HP:0001288 Gait disturbance
Displaying 1 entry
Gene ID Gene Symbol Description
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
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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