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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:Fraser syndrome
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Accession:DOID:0090001 term browser browse the term
Definition:A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: cryptophthalmos with other malformations;   cryptophthalmos-syndactyly syndrome
 broad_synonym: GRIP1-related condition
 xref: GARD:6465;   MESH:D058497;   MIM:PS219000;   MONDO:0009046;   NCI:C118436;   ORDO:2052


show annotations for term's descendants           Sort by:
Fraser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISS
ISO 		ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations | ClinVar Annotator: match by term: Fraser syndrome
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 More... NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations 		CTD
ClinVar
MouseDO		 PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS
ISO 		OMIM:219000
ClinVar Annotator: match by term: GRIP1-related condition 		MouseDO
ClinVar		 PMID:21383172 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cryptophthalmos syndrome | ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... RGD:1598960 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:16199547 PMID:22510445 PMID:24357607 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO 		ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 OMIM
ClinVar
RGD		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 More... RGD:13464328, RGD:126781714 NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 PMID:23336369 RGD:13464328, RGD:126781714
Fraser syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:58,390,204...58,443,790
Ensembl chr10:58,379,410...58,443,769 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:16,914,118...16,936,801 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:54,259,349...54,261,203
Ensembl chr10:54,256,949...54,261,387 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar		 PMID:16199547 PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 More... NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:143,615,360...143,663,986 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:22,309,613...22,356,754 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:58,443,736...58,461,578
Ensembl chr10:58,417,415...58,461,908 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,556,199...61,563,527 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:63,771,823...63,775,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Fraser syndrome 22
        Fraser syndrome 1 3
        Fraser syndrome 2 3
        Fraser syndrome 3 17
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  syndactyly 152
                    Fraser syndrome 22
                      Fraser syndrome 1 3
                      Fraser syndrome 2 3
                      Fraser syndrome 3 17
paths to the root