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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:Congenital Hand Deformities
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Accession:DOID:9004795 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Synonyms:exact_synonym: Congenital Hand Deformity
 narrow_synonym: HAND OLIGODACTYLY;   OLIGODACTYLY (HANDS)
 primary_id: MESH:D006228


show annotations for term's descendants           Sort by:
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
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
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		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
Bifid Femur with Monodactylous Ectrodactyly 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 ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr10:62,019,281...62,039,666
Ensembl chr10:62,019,189...62,039,648 		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
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr13:64,974,419...65,037,604
Ensembl chr13:64,974,419...65,037,602 		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 ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition OMIM
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 Derl3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,753,926...12,766,478
Ensembl chr20:12,762,981...12,766,477 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,730,284...12,739,067
Ensembl chr20:12,730,277...12,739,290 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 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 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 ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820 PMID:20400119 PMID:25741868 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
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 Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105 		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 Aptx aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:61,035,166...61,040,685 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:60,967,558...60,982,618 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:62,548,303...62,551,870 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:61,685,511...61,692,821 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:60,731,602...60,778,445 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:60,864,476...60,878,161 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:63,000,138...63,010,123 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:60,877,341...60,894,511 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:62,470,367...62,478,198 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:61,619,326...61,645,795 		JBrowse link
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 Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,256,353...61,278,155
Ensembl chr 5:61,256,353...61,278,119 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:61,676,950...61,684,903 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:60,638,410...60,650,160 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:61,596,860...61,598,657 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:64,369,495...64,374,902 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:61,475,185...61,525,749 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:62,706,122...62,715,137 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,092,709...64,139,054
Ensembl chr 5:64,092,709...64,160,923 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:64,238,768...64,340,776 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:62,778,112...62,778,954 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:61,357,940...61,399,379 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:63,336,106...63,396,247 		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 Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:62,634,721...62,635,970 		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 Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:52,462,509...52,492,105 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:60,196,585...60,206,055 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,900,140...60,958,889
Ensembl chr 5:60,901,217...60,958,889 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:61,055,863...61,083,264 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:61,424,053...61,439,015 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:62,876,908...62,877,867 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:62,757,159...62,758,097 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:63,560,722...63,739,987 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:61,939,900...61,966,875 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,075,123...64,090,900
Ensembl chr 5:64,075,122...64,091,039 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:71,169,749...71,173,223 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:62,630,133...62,638,864 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:63,154,507...63,263,137 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:62,536,009...62,537,911 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,652,680...60,671,251
Ensembl chr 5:60,652,680...60,671,251 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:61,861,071...61,878,519 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:61,995,800...61,999,889 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,811,899...60,860,823
Ensembl chr 5:60,849,060...60,860,823 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:61,462,070...61,474,774 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:62,583,731...62,613,687 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,408,587...60,411,841
Ensembl chr 5:60,406,763...60,413,601 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:62,715,203...62,744,174 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,158,026...64,160,857 JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		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
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,344,491...64,368,175
Ensembl chr 5:64,344,545...64,368,172 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:61,316,643...61,357,076 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:61,144,182...61,232,828 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:61,082,552...61,141,452 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,039,805...64,062,451
Ensembl chr 5:64,035,080...64,074,912 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,787,292...63,968,960
Ensembl chr 5:63,788,217...63,968,549 		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 Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		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
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		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
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:82,653,825...82,662,093 		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:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... 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
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522 		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
ClinVar Annotator: match by term: Hydrolethalus syndrome 1 		OMIM
CTD
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... 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
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laurin-Sandrow syndrome 		OMIM
CTD
ClinVar		 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
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		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 ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human) 		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
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 		OMIM
CTD
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:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... 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 		ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1
OMIM:145420
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... 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
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,254,322...85,259,163
Ensembl chr 7:85,253,992...85,259,163 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:87,982,216...87,994,581 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:87,634,654...87,699,534 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:84,980,891...85,071,546 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:88,092,140...88,214,957 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:87,790,239...87,850,403 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:85,894,605...85,917,973 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:85,177,716...85,204,657 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:86,658,072...87,207,686 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:85,481,864...85,517,177 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:88,312,374...88,369,399
Ensembl chr 7:88,312,374...88,369,377 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
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
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,074,713...85,084,766
Ensembl chr 7:85,074,711...85,085,603 		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 Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:75,109,858...77,366,258 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:77,551,781...77,634,210
Ensembl chr 4:77,551,787...77,621,760 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO
ISS 		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
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		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 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        Hand Deformities 208
          Congenital Hand Deformities 205
            Aarskog syndrome + 2
            Acrootoocular Syndrome 0
            Anonychia-Ectrodactyly 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Banki Syndrome 0
            Bifid Femur with Monodactylous Ectrodactyly 2
            Camptodactyly 1 0
            Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
            Camptodactyly Syndrome Guadalajara Type + 0
            Camptodactyly Taurinuria 0
            Camptodactyly Vertebral Fusion 0
            Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
            Camptodactyly-Ichthyosis Syndrome 0
            Carnevale Hernandez Castillo Syndrome 0
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
            Catel Manzke syndrome 2
            Chitayat-Meunier-Hodgkinson Syndrome 0
            Coffin-Siris syndrome + 20
            Complex Camptosynpolydactyly 1
            Cranioacrofacial Syndrome 0
            Craniosynostosis, Adelaide Type 0
            DOORS syndrome 4
            Daneman Davy Mancer Syndrome 0
            Deafness, Congenital Onychodystrophy, Recessive Form 0
            Distal Symphalangism + 3
            Dwarfism Stiff Joint Ocular Abnormalities 0
            Dystelephalangy 0
            Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
            Ectrodactyly-Cleft Palate Syndrome 0
            Eiken syndrome 1
            Extensor Tendons of Fingers, Anomalous Insertion of 0
            Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
            Fairbank Disease 0
            Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
            Frints De Smet Fabry Fryns Syndrome 0
            Frontootopalatodigital Osteodysplasia 0
            Fuhrmann syndrome 1
            Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
            Goodman Camptodactyly 0
            Growth Mental Deficiency Syndrome of Myhre 2
            Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
            Hairy Palms and Soles 0
            Heart-Hand Syndrome, Slovenian Type 1
            Hecht-Scott Syndrome 0
            Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
            IVIC syndrome 1
            Johnson Munson Syndrome 0
            Keutel Syndrome 1
            Khalifa Graham Syndrome 0
            Laurin-Sandrow syndrome 1
            Leri Pleonosteosis 0
            Macrodactyly of the Hand 0
            Mammary-Digital-Nail Syndrome 0
            Metaphyseal Acroscyphodysplasia 0
            Michels Caskey Syndrome 0
            Microcephaly with Mental Retardation and Digital Anomalies 1
            Mononen-Karnes-Senac syndrome 0
            Morillo-Cucci Passarge Syndrome 0
            Muller Barth Menger Syndrome 0
            Neurofaciodigitorenal Syndrome 0
            Odontotrichoungual-Digital-Palmar Syndrome 0
            Oroacral Syndrome, Verloes-Koulischer Type 0
            Oslam syndrome 0
            Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
            Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
            Pfeiffer Tietze Welte Syndrome 0
            Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
            Progeroid Facial Appearance with Hand Anomalies 0
            Pseudotrisomy 13 Syndrome 0
            Radio-Ulnar Synostosis Type 1 0
            Radio-Ulnar Synostosis Type 2 0
            Rhizomelic Dysplasia Patterson Lowry Type 0
            Richieri Costa Guion-Almeida Syndrome 0
            Richieri Costa-Pereira Syndrome 1
            Rozin Hertz Goodman Syndrome 0
            Saal Bulas Syndrome 0
            Sanderson Fraser Syndrome 0
            Say Field Coldwell Syndrome 0
            Schinzel Giedion syndrome 1
            Second Metatarsal-Metacarpal Syndrome 0
            Split Hand, Split Foot, Nystagmus 0
            Spondylocamptodactyly 0
            Stoll Alembik Dott Syndrome 0
            Symphalangism with Multiple Anomalies of Hands and Feet 0
            Symphalangism, C. S. Lewis Type 0
            Synpolydactyly 2 1
            Tabatznik Syndrome 0
            Teebi Kaurah Syndrome 0
            Teebi hypertelorism syndrome + 3
            Tel Hashomer Camptodactyly Syndrome 0
            Tollner Horst Manzke Syndrome 0
            Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
            Triphalangeal Thumb + 1
            Tukel syndrome 0
            Unilateral Adactylia 0
            Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
            Van Maldergem syndrome + 2
            Ventricular Extrasystoles Perodactyly Robin Sequence 0
            Vohwinkel syndrome 1
            Walbaum-Titran-Durieux-Crepin Syndrome 0
            Weaver syndrome 5
            Weyers Ulnar Ray/Oligodactyly Syndrome 0
            Zimmerman Laband Syndrome + 4
            acheiropody 1
            acrocardiofacial syndrome 0
            acrofacial dysostosis Rodriguez type 0
            acrofacial dysostosis, Patagonia type 0
            acrorenal syndrome + 0
            brachydactyly type E1 3
            brachydactyly type E2 1
            camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
            camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
            cold-induced sweating syndrome + 3
            distal arthrogryposis type 1 + 92
            distal arthrogryposis type 3 1
            ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
            ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
            ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
            hand-foot-genital syndrome 2
            hydrolethalus syndrome + 3
            otopalatodigital syndrome spectrum disorder + 12
            split hand-foot malformation 1 with sensorineural hearing loss 1
            syndactyly type 8 1
            tarsal-carpal coalition syndrome + 1
            terminal osseous dysplasia 1
            trichorhinophalangeal syndrome type III 15
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Musculoskeletal Abnormalities 3467
            Congenital Limb Deformities 1072
              Congenital Upper Extremity Deformities 234
                Congenital Hand Deformities 205
                  Aarskog syndrome + 2
                  Acrootoocular Syndrome 0
                  Anonychia-Ectrodactyly 0
                  Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
                  Banki Syndrome 0
                  Bifid Femur with Monodactylous Ectrodactyly 2
                  Camptodactyly 1 0
                  Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                  Camptodactyly Syndrome Guadalajara Type + 0
                  Camptodactyly Taurinuria 0
                  Camptodactyly Vertebral Fusion 0
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                  Camptodactyly-Ichthyosis Syndrome 0
                  Carnevale Hernandez Castillo Syndrome 0
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
                  Catel Manzke syndrome 2
                  Chitayat-Meunier-Hodgkinson Syndrome 0
                  Coffin-Siris syndrome + 20
                  Complex Camptosynpolydactyly 1
                  Cranioacrofacial Syndrome 0
                  Craniosynostosis, Adelaide Type 0
                  DOORS syndrome 4
                  Daneman Davy Mancer Syndrome 0
                  Deafness, Congenital Onychodystrophy, Recessive Form 0
                  Distal Symphalangism + 3
                  Dwarfism Stiff Joint Ocular Abnormalities 0
                  Dystelephalangy 0
                  Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                  Ectrodactyly-Cleft Palate Syndrome 0
                  Eiken syndrome 1
                  Extensor Tendons of Fingers, Anomalous Insertion of 0
                  Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
                  Fairbank Disease 0
                  Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
                  Frints De Smet Fabry Fryns Syndrome 0
                  Frontootopalatodigital Osteodysplasia 0
                  Fuhrmann syndrome 1
                  Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                  Goodman Camptodactyly 0
                  Growth Mental Deficiency Syndrome of Myhre 2
                  Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
                  Hairy Palms and Soles 0
                  Heart-Hand Syndrome, Slovenian Type 1
                  Hecht-Scott Syndrome 0
                  Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                  IVIC syndrome 1
                  Johnson Munson Syndrome 0
                  Keutel Syndrome 1
                  Khalifa Graham Syndrome 0
                  Laurin-Sandrow syndrome 1
                  Leri Pleonosteosis 0
                  Macrodactyly of the Hand 0
                  Mammary-Digital-Nail Syndrome 0
                  Metaphyseal Acroscyphodysplasia 0
                  Michels Caskey Syndrome 0
                  Microcephaly with Mental Retardation and Digital Anomalies 1
                  Mononen-Karnes-Senac syndrome 0
                  Morillo-Cucci Passarge Syndrome 0
                  Muller Barth Menger Syndrome 0
                  Neurofaciodigitorenal Syndrome 0
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Oroacral Syndrome, Verloes-Koulischer Type 0
                  Oslam syndrome 0
                  Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
                  Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
                  Pfeiffer Tietze Welte Syndrome 0
                  Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                  Progeroid Facial Appearance with Hand Anomalies 0
                  Pseudotrisomy 13 Syndrome 0
                  Radio-Ulnar Synostosis Type 1 0
                  Radio-Ulnar Synostosis Type 2 0
                  Rhizomelic Dysplasia Patterson Lowry Type 0
                  Richieri Costa Guion-Almeida Syndrome 0
                  Richieri Costa-Pereira Syndrome 1
                  Rozin Hertz Goodman Syndrome 0
                  Saal Bulas Syndrome 0
                  Sanderson Fraser Syndrome 0
                  Say Field Coldwell Syndrome 0
                  Schinzel Giedion syndrome 1
                  Second Metatarsal-Metacarpal Syndrome 0
                  Split Hand, Split Foot, Nystagmus 0
                  Spondylocamptodactyly 0
                  Stoll Alembik Dott Syndrome 0
                  Symphalangism with Multiple Anomalies of Hands and Feet 0
                  Symphalangism, C. S. Lewis Type 0
                  Synpolydactyly 2 1
                  Tabatznik Syndrome 0
                  Teebi Kaurah Syndrome 0
                  Teebi hypertelorism syndrome + 3
                  Tel Hashomer Camptodactyly Syndrome 0
                  Tollner Horst Manzke Syndrome 0
                  Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                  Triphalangeal Thumb + 1
                  Tukel syndrome 0
                  Unilateral Adactylia 0
                  Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
                  Van Maldergem syndrome + 2
                  Ventricular Extrasystoles Perodactyly Robin Sequence 0
                  Vohwinkel syndrome 1
                  Walbaum-Titran-Durieux-Crepin Syndrome 0
                  Weaver syndrome 5
                  Weyers Ulnar Ray/Oligodactyly Syndrome 0
                  Zimmerman Laband Syndrome + 4
                  acheiropody 1
                  acrocardiofacial syndrome 0
                  acrofacial dysostosis Rodriguez type 0
                  acrofacial dysostosis, Patagonia type 0
                  acrorenal syndrome + 0
                  brachydactyly type E1 3
                  brachydactyly type E2 1
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  cold-induced sweating syndrome + 3
                  distal arthrogryposis type 1 + 92
                  distal arthrogryposis type 3 1
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
                  hand-foot-genital syndrome 2
                  hydrolethalus syndrome + 3
                  otopalatodigital syndrome spectrum disorder + 12
                  split hand-foot malformation 1 with sensorineural hearing loss 1
                  syndactyly type 8 1
                  tarsal-carpal coalition syndrome + 1
                  terminal osseous dysplasia 1
                  trichorhinophalangeal syndrome type III 15
paths to the root