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hypogonadotropic hypogonadism 16 with or without anosmia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hypogonadotropic hypogonadism 16 with or without anosmia
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Accession:DOID:0090080 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HH16;   SEMA3A-RELATED CONDITION
 primary_id: MIM:614897

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hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129998733 ATAC-STARR-seq lymphoblastoid silent region 18337 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia ClinVar PMID:22416012 PMID:22927827 NCBI chr 7:83,836,142...83,836,201 JBrowse link
G H LOC129998734 ATAC-STARR-seq lymphoblastoid active region 26218 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia ClinVar PMID:22416012 PMID:22927827 NCBI chr 7:84,013,831...84,013,930 JBrowse link
G N Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chrNW_004624739:32,104,014...32,426,980
Ensembl chrNW_004624739:32,105,824...32,309,271 		JBrowse link
G G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr21:64,723,860...64,942,705
Ensembl chr21:64,784,039...64,939,682 		JBrowse link
G P SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950 		JBrowse link
G D SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr18:23,411,607...23,866,631
Ensembl chr18:23,414,576...23,867,098 		JBrowse link
G B SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 7:75,929,699...76,484,246
Ensembl chr 7:89,590,359...90,004,122 		JBrowse link
G C Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chrNW_004955410:2,146,088...2,344,342
Ensembl chrNW_004955410:2,144,388...2,338,973 		JBrowse link
G R Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 4:22,239,418...22,709,907
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G M Sema3a sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533 		JBrowse link
G H SEMA3A semaphorin 3A IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia
ClinVar Annotator: match by term: SEMA3A-related condition
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition		 ClinVar
OMIM		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Olfaction Disorders 226
        hypogonadotropic hypogonadism 16 with or without anosmia 11
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                hypogonadotropic hypogonadism 16 with or without anosmia 11
paths to the root