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Standards Ontologies Notations
hypogonadotropic hypogonadism 7 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
Super Class
autosomal recessive disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090078
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2260 FGFR1 fibroblast growth factor receptor 1
2798 GNRHR gonadotropin releasing hormone receptor
26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14182 Fgfr1 fibroblast growth factor receptor 1
14715 Gnrhr gonadotropin releasing hormone receptor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
79114 Fgfr1 Fibroblast growth factor receptor 1
81668 Gnrhr gonadotropin releasing hormone receptor
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 1 - 10 of 36 in total
HPO ID HPO Term
HP:0000786 Primary amenorrhea
HP:0008527 Congenital sensorineural hearing impairment
HP:0000118 Phenotypic abnormality
HP:0002750 Delayed skeletal maturation
HP:0000027 Azoospermia
HP:0005280 Depressed nasal bridge
HP:0000316 Hypertelorism
HP:0012385 Camptodactyly
HP:0000938 Osteopenia
HP:0000013 Hypoplasia of the uterus
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