Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Hand Deformities
go back to main search page
Accession:DOID:9008871 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the hand.
Synonyms:exact_synonym: Hand Deformity
 primary_id: MESH:D006226;   RDO:0002624


show annotations for term's descendants           Sort by:
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome 		CTD
ClinVar		 PMID:000740980 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 More... NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO
ISS 		ClinVar Annotator: match by term: Acheiropodia
OMIM:200500
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:18399101 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone-like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 NCBI chr13:65,037,363...65,054,764
Ensembl chr13:65,037,363...65,054,508 		JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CATSHL SYNDROME | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome | ClinVar Annotator: match by term: FGFR3-related CATSHL syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Liebenberg syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO
ISS 		OMIM:616145
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition 		OMIM
MouseDO
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar
MouseDO		 PMID:22426308 PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:189,444,527...189,459,507
Ensembl chr 1:189,444,555...189,459,491 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability 		CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:18285426 PMID:18647326 PMID:21108436 More... NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO
ISS 		ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
OMIM:135900
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 		OMIM
ClinVar
MouseDO		 PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More... NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More... NCBI chr 2:120,966,992...120,975,015
Ensembl chr 2:120,966,950...120,975,011 		JBrowse link
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 More... NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr 7:132,708,627...132,719,167
Ensembl chr 7:132,708,432...132,719,167 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 PMID:37500730 NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:93,310,278...93,379,320 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 susceptibility ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:17576681 PMID:18414213 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 PMID:35980532 More... NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Gigyf1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 PMID:35917186 NCBI chr12:24,800,996...24,819,719
Ensembl chr12:24,802,865...24,811,800 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 		CTD
ClinVar		 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO OMIM NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
Complex Camptosynpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptosynpolydactyly, complex 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		JBrowse link
Congenital Hand Deformities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Hoxa13 homeo box A13 ISO hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter RGD PMID:9020844 RGD:1599526 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
G L1cam L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:17339586 PMID:23401156 PMID:23678273 PMID:24692096 PMID:25741868 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr10:86,610,140...86,625,896
Ensembl chr10:86,611,890...86,631,730 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:25741868 PMID:28492532 NCBI chr 7:24,817,770...24,903,681
Ensembl chr 7:24,817,561...24,903,544 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 1:191,257,432...191,263,046
Ensembl chr 1:191,256,196...191,263,045 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 More... NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome OMIM
ClinVar		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO
ISS 		DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604292
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BONE MODELING DEFECT OF HANDS AND FEET | ClinVar Annotator: match by term: Eiken syndrome 		CTD
ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: SH3PXD2B-related condition 		OMIM
CTD
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854 		JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 		CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple (human) 		CTD
RGD		 PMID:27426733 RGD:11552867 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
DNA:missense mutations, deletions:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... RGD:11063279 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO
ISS 		ClinVar Annotator: match by term: Fuhrmann syndrome | ClinVar Annotator: match by term: WNT7A-related condition
OMIM:228930
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9128926 PMID:12809666 PMID:16826533 PMID:19282404 PMID:21344627 More... NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO
ISS 		hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:25741868 NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725 		JBrowse link
G Kif7 kinesin family member 7 ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21552264 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25131622 More... NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders 		OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 More... RGD:1600783 NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859 		JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16059937 PMID:24456159 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 More... NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 		ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human) 		ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
otopalatodigital syndrome spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO DNA:deletion:cds:c.4904_4912del (human)
ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder 		ClinVar
RGD		 PMID:15654694 PMID:16596676 PMID:15654694 RGD:11565126 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: OPD SYNDROME 1 | ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 More... RGD:1598954 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... RGD:1598954 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Richieri Costa-Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome 		OMIM
CTD
ClinVar		 PMID:24360810 NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207 		JBrowse link
Schinzel-Giedion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Schinzel-Giedion syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 8 		OMIM
CTD
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:74,882,995...74,944,246 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
Teebi hypertelorism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:28492532 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO
ISS 		OMIM:145420
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
CTD		 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: CDH11-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33811546 NCBI chr19:2,152,961...2,312,140
Ensembl chr19:2,154,840...2,312,140 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9071288 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Thumb Deformity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Thumb deformity ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Thumb deformity ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Thumb deformity ClinVar NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
Triphalangeal Thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb ClinVar PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:22340503 More... NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome 		CTD
ClinVar		 PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 More... NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 More... NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.D66H(human) 		OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:11568635, RGD:7364824 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO
ISS 		ClinVar Annotator: match by term: EZH2-related disorder | ClinVar Annotator: match by term: Weaver syndrome
OMIM:277590
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome 		CTD
ClinVar		 PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846 		JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human)
DNA:insertion:cds:c.2121_2122insG (human) 		OMIM
ClinVar
RGD		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr13:106,253,101...106,555,712
Ensembl chr13:106,253,213...106,555,710 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr13:106,253,101...106,555,712
Ensembl chr13:106,253,213...106,555,710 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: ATP6V1B2-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:24913193 PMID:25741868 PMID:25915598 More... NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 ClinVar PMID:25741868 NCBI chr 3:59,312,628...59,969,633
Ensembl chr 3:59,383,516...59,965,379 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 2:177,227,276...177,378,849
Ensembl chr 2:177,234,327...177,379,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        Hand Deformities 91
          Congenital Hand Deformities + 88
          Hand Deformities, Acquired 0
          Thumb Deformity + 3
paths to the root