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: Arachnodactyly
Accession: DOID:9005367
browse the term
Definition: An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Synonyms: exact_synonym: Arachnodactylies
primary_id: MESH:D054119
For additional species annotation, visit the
Alliance of Genome Resources .
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arachnodactyly
CTD ClinVar
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11143906 PMID:11700157 PMID:11826022 PMID:12203987 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:16971892 PMID:17253931 PMID:17576681 PMID:17657824 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19159394 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21542060 PMID:21895641 PMID:21932315 PMID:22772368 PMID:22772377 PMID:24033266 PMID:24161884 PMID:24199744 PMID:25053872 PMID:25741868 PMID:26133393 PMID:28492532 PMID:29357934 PMID:31098894 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fzd4
frizzled class receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17103440
NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Arachnodactyly
ClinVar
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Npr3
natriuretic peptide receptor 3
ISO
ClinVar Annotator: match by term: Boudin-Mortier syndrome
OMIM ClinVar
PMID:24559625 PMID:25741868 PMID:30032985
NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar OMIM RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24585410 PMID:24833718 PMID:24899048 PMID:25046119 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27196565 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28831199 PMID:29501612 PMID:29907982 PMID:29926239 PMID:30029678 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32123317 PMID:32277046 PMID:32534992 PMID:32702406 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:11754102 More...
RGD:1300364
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Marden-Walker syndrome
OMIM ClinVar
PMID:24726473 PMID:25741868 PMID:28492532
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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Actrt2
actin-related protein T2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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Agrn
agrin
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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C1qtnf12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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C5h1orf159
similar to human chromosome 1 open reading frame 159
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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Cdk11b
cyclin-dependent kinase 11B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Faap20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:20635359 PMID:23892090 PMID:28492532
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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Gabrd
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Hes5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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Mib2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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Mir200a
microRNA 200a
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,648,494...166,648,582
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Mir200b
microRNA 200b
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir429
microRNA 429
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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Mmel1
membrane metallo-endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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Mmp23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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Morn1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:20635359 PMID:23892090 PMID:28492532
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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Mxra8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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Pank4
pantothenate kinase 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Plch2
phospholipase C, eta 2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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Prkcz
protein kinase C, zeta
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Prxl2b
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,462,610...165,465,213
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Pusl1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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Rer1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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Rnf223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Ski
Ski proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
OMIM CTD ClinVar
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:20635359 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25741868 PMID:27146836 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 More...
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc35e2b
solute carrier family 35, member E2B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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Tas1r3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
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Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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Tnfrsf14
TNF receptor superfamily member 14
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Ttc34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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Ttll10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2
ubiquitin-conjugating enzyme E2, J2
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar
PMID:28492532
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
OMIM ClinVar
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 PMID:28492532 PMID:33783941 More...
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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