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Standards Ontologies Notations
hypogonadotropic hypogonadism 16 with or without anosmia

Summary
Definition
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.
Super Class
autosomal dominant disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090080
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10371 SEMA3A semaphorin 3A
Displaying 1 entry
Gene ID Gene Symbol Description Source
20346 Sema3a sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Displaying 1 entry
Gene ID Gene Symbol Description Source
29751 Sema3a semaphorin 3A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
36846 Sema2a Semaphorin 2a
246538 Sema2b Semaphorin 2b
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30266 sema3aa sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3Aa
30267 sema3ab sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3Ab
Displaying 1 entry
Gene ID Gene Symbol Description Source
173351 smp-1 Sema domain-containing protein;Semaphorin-1A
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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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