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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
 alt_id: RDO:0000393
For additional species annotation, visit the Alliance of Genome Resources.



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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 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
JBrowse link
G L1cam L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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 syndrome
ClinVar Annotator: match by term: FGDY
ClinVar Annotator: match by term: Aarskog disease
CTD
ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 More... NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
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 ClinVar Annotator: match by term: Acheiropodia
ClinVar Annotator: match by OMIM:200500
OMIM
ClinVar
PMID:11090342 PMID:33863876 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113300
OMIM
ClinVar
CTD
PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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 OMIM:613382
OMIM
ClinVar
PMID:20170896 PMID:25801215 PMID:26763883 PMID:29947179 PMID:31283647 NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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: Camptodactyly arthropathy coxa vara pericarditis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:208250
OMIM
ClinVar
CTD
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome ClinVar PMID:29397575 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496
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: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome
ClinVar Annotator: match by OMIM:610474
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Camptosynpolydactyly, Complex 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: Camptosynpolydactyly, complex OMIM
ClinVar
PMID:25741868 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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 OMIM
ClinVar
PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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
ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900
ClinVar
MouseDO
PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar Annotator: match by term: Coffin-Siris syndrome
DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar
RGD
PMID:18414213 PMID:24033266 PMID:25741868 PMID:24674232 RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24728327 PMID:25741868 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO 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
OMIM
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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: COFFIN-SIRIS SYNDROME 10
OMIM
ClinVar
PMID:25741868 PMID:30661772 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11
OMIM
ClinVar
PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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: COFFIN-SIRIS SYNDROME 12 ClinVar
OMIM
PMID:25741868 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar Annotator: match by OMIM:614607
OMIM
ClinVar
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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: Mental retardation, autosomal dominant 15 ClinVar NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15
ClinVar Annotator: match by OMIM:614608
OMIM
ClinVar
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16
ClinVar Annotator: match by OMIM:614609
OMIM
ClinVar
PMID:10601012 PMID:22426308 PMID:23637025 PMID:24728327 PMID:25326635 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-siris syndrome 5
ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar
OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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: COFFIN-SIRIS SYNDROME 6
ClinVar Annotator: match by term: Coffin-Siris syndrome 6
ClinVar
OMIM
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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: Coffin-Siris syndrome 7
ClinVar
OMIM
PMID:25741868 PMID:29429572 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8
OMIM
ClinVar
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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: Mental retardation, autosomal dominant 27 ClinVar
OMIM
PMID:24886874 PMID:25741868 PMID:32860008 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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: PERCHING syndrome
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DOORS syndrome
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
ClinVar Annotator: match by term: Digitorenocerebral syndrome
OMIM
ClinVar
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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: EEM syndrome
ClinVar Annotator: match by OMIM:225280
OMIM
ClinVar
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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 DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
RGD
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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 ClinVar Annotator: match by OMIM:600002
ClinVar Annotator: match by term: Eiken syndrome
ClinVar Annotator: match by term: Eiken skeletal dysplasia
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar
OMIM
RGD
PMID:15525660 PMID:25741868 PMID:29987841 PMID:31297790 PMID:15525660 RGD:12910707 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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 ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by OMIM:249420
OMIM
ClinVar
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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:15523633 PMID:15917206 PMID:16596676 PMID:16835913 More... RGD:11063279 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2
ClinVar
OMIM
PMID:12503106 PMID:25741868 PMID:25899317 PMID:27426733 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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 ClinVar Annotator: match by OMIM:228930 OMIM
ClinVar
PMID:9128926 PMID:16826533 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by OMIM:139210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:8898652 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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 hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: Hand-foot-genital syndrome
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:140000
ClinVar
CTD
OMIM
RGD
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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
ClinVar Annotator: match by OMIM:610140
OMIM
ClinVar
PMID:15996213 PMID:18611980 PMID:22224630 PMID:22266370 PMID:22464770 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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 ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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:21552264 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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 ClinVar Annotator: match by term: IVIC syndrome OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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 OMIM:245150
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
RGD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 More... RGD:1600783 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome
ClinVar Annotator: match by OMIM:135750
OMIM
ClinVar
PMID:16059937 PMID:24456159 PMID:24500651 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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 syndrome
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
OMIM
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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: Microcephaly with mental retardation and digital anomalies
ClinVar Annotator: match by OMIM:251255
ClinVar Annotator: match by term: KELLY SYNDROME
OMIM
ClinVar
PMID:18071751 PMID:21998596 PMID:25741868 NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
RGD
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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 ClinVar Annotator: match by null
DNA:deletion:cds:c.4904_4912del (human)
ClinVar
RGD
PMID:15654694 PMID:16596676 PMID:15654694 RGD:11565126 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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: Oto-palato-digital syndrome, type I
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
ClinVar Annotator: match by term: OPD I SYNDROME
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:311300
OMIM
ClinVar
CTD
RGD
PMID:12612583 PMID:15194946 PMID:15917206 PMID:15940695 PMID:16596676 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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: Otopalatodigital Syndrome, Type II
ClinVar Annotator: match by term: OPD II SYNDROME
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:304120
OMIM
ClinVar
CTD
RGD
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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 ClinVar Annotator: match by OMIM:268305 OMIM
ClinVar
PMID:24360810 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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
ClinVar Annotator: match by OMIM:269150
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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 OMIM:220600 OMIM
ClinVar
PMID:22121204 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
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 ClinVar Annotator: match by term: Metacarpal 4-5 fusion OMIM
ClinVar
PMID:23709756 PMID:24878828 NCBI chr  X:70,816,658...70,827,270
Ensembl chr  X:70,817,433...70,878,717
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Synpolydactyly 2 OMIM
ClinVar
PMID:25741868 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by OMIM:186570
OMIM
ClinVar
RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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
ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
OMIM
ClinVar
PMID:9536098 PMID:9800904 PMID:10982965 PMID:15864382 PMID:17152064 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
ClinVar Annotator: match by OMIM:190351
OMIM
ClinVar
PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 PMID:14560312 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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:24777739 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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: Van Maldergem syndrome 2
ClinVar Annotator: match by OMIM:615546
OMIM
ClinVar
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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
ClinVar Annotator: match by OMIM:124500
DNA:mutation:cds:p.D66H(human)
OMIM
ClinVar
RGD
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:11568635, RGD:7364824 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome
ClinVar Annotator: match by OMIM:277590
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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 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
RGD
PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
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 chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome
CTD
ClinVar
PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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 chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar
PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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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: Zimmermann-Laband syndrome 2 OMIM
ClinVar
PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3
ClinVar Annotator: match by term: ZIMMERMANN-LABAND SYNDROME 3
OMIM
ClinVar
PMID:25741868 PMID:31155282 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        Hand Deformities 80
          Congenital Hand Deformities 77
            Aarskog syndrome + 2
            Acrootoocular Syndrome 0
            Anonychia-Ectrodactyly 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Banki Syndrome 0
            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
            Camptosynpolydactyly, Complex 1
            Carnevale Hernandez Castillo Syndrome 0
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
            Catel Manzke Syndrome 2
            Chitayat Meunier Hodgkinson Syndrome 0
            Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
            Coffin-Siris syndrome + 18
            Cranioacrofacial Syndrome 0
            Craniosynostosis, Adelaide Type 0
            DOORS syndrome 1
            Daneman Davy Mancer Syndrome 0
            Deafness, Congenital Onychodystrophy, Recessive Form 0
            Digitotalar Dysmorphism 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
            Femur Bifid with Monodactylous Ectrodactyly 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 Syndrome 0
            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 3
            Weyers Ulnar Ray/Oligodactyly Syndrome 0
            Zimmerman Laband Syndrome + 3
            acheiropody 1
            acrofacial dysostosis Rodriguez type 0
            acrofacial dysostosis, Patagonia type 0
            acrorenal syndrome + 0
            brachydactyly type E1 1
            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 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 1
            hydrolethalus syndrome + 3
            otopalatodigital syndrome spectrum disorder + 4
            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 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Congenital Limb Deformities 459
              Congenital Upper Extremity Deformities 92
                Congenital Hand Deformities 77
                  Aarskog syndrome + 2
                  Acrootoocular Syndrome 0
                  Anonychia-Ectrodactyly 0
                  Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
                  Banki Syndrome 0
                  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
                  Camptosynpolydactyly, Complex 1
                  Carnevale Hernandez Castillo Syndrome 0
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
                  Catel Manzke Syndrome 2
                  Chitayat Meunier Hodgkinson Syndrome 0
                  Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
                  Coffin-Siris syndrome + 18
                  Cranioacrofacial Syndrome 0
                  Craniosynostosis, Adelaide Type 0
                  DOORS syndrome 1
                  Daneman Davy Mancer Syndrome 0
                  Deafness, Congenital Onychodystrophy, Recessive Form 0
                  Digitotalar Dysmorphism 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
                  Femur Bifid with Monodactylous Ectrodactyly 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 Syndrome 0
                  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 3
                  Weyers Ulnar Ray/Oligodactyly Syndrome 0
                  Zimmerman Laband Syndrome + 3
                  acheiropody 1
                  acrofacial dysostosis Rodriguez type 0
                  acrofacial dysostosis, Patagonia type 0
                  acrorenal syndrome + 0
                  brachydactyly type E1 1
                  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 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 1
                  hydrolethalus syndrome + 3
                  otopalatodigital syndrome spectrum disorder + 4
                  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 1
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