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Standards Ontologies Notations
hypogonadotropic hypogonadism 21 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.
Super Class
autosomal dominant disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090093
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23767 FLRT3 fibronectin leucine rich transmembrane protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
71436 Flrt3 fibronectin leucine rich transmembrane protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
366205 Flrt3 fibronectin leucine rich transmembrane protein 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
394225 flrt3.S fibronectin leucine rich transmembrane protein 3 S homeolog Xenopus laevis (African clawed frog)
100144692 flrt3 fibronectin leucine rich transmembrane protein 3 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 43 in total
HPO ID HPO Term
HP:0010550 Paraplegia
HP:0001337 Tremor
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:0000786 Primary amenorrhea
HP:0002750 Delayed skeletal maturation
HP:0000508 Ptosis
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: December 9, 2024