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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
External Links
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 1 - 10 of 71 in total
HPO ID HPO Term
HP:0000002 Abnormality of body height
HP:0000008 Abnormal morphology of female internal genitalia
HP:0000013 Hypoplasia of the uterus
HP:0000026 Male hypogonadism
HP:0000027 Azoospermia
HP:0000028 Cryptorchidism
HP:0000044 Hypogonadotropic hypogonadism
HP:0000054 Micropenis
HP:0000104 Renal agenesis
HP:0000118 Phenotypic abnormality
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