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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:split hand-foot malformation
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Accession:DOID:0090020 term browser browse the term
Definition:A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)
Synonyms:exact_synonym: lobster-claw deformity;   split hand foot deformity;   split hand/foot malformation;   split-hand deformity
 related_synonym: ECD;   ectrodactyly
 primary_id: MESH:C535777
 alt_id: MESH:C574275
 xref: GARD:6319;   OMIM:PS183600;   ORDO:2440


show annotations for term's descendants           Sort by:
split hand-foot malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:97,958,527...98,159,550
Ensembl chr10:101,431,318...101,632,496 		JBrowse link
G DLX5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186 		JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:98,190,415...98,212,857
Ensembl chr10:101,663,384...101,684,812 		JBrowse link
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:98,212,907...98,297,477
Ensembl chr10:101,685,804...101,769,672 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G LBX1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:97,830,026...97,832,751 JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY ClinVar PMID:26755636 NCBI chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556 		JBrowse link
G PLAA phospholipase A2 activating protein ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 9:26,749,607...26,793,580
Ensembl chr 9:27,357,437...27,401,103 		JBrowse link
G POLL DNA polymerase lambda ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:98,181,049...98,190,463
Ensembl chr10:101,653,978...101,663,360 		JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Split hand-foot malformation ClinVar NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 PMID:34040189 NCBI chr19:31,382,856...31,424,252
Ensembl chr19:40,110,049...40,149,742 		JBrowse link
split hand-foot malformation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Split hand-foot malformation 1 OMIM
ClinVar		 PMID:24496061 PMID:25196357 PMID:25741868 NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186 		JBrowse link
G DLX6 distal-less homeobox 6 ISO OMIM:183600 MouseDO NCBI chr 7:88,957,570...88,962,703 JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Split-hand/foot malformation 1 ClinVar PMID:26755636 NCBI chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186 		JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,212,907...98,297,477
Ensembl chr10:101,685,804...101,769,672 		JBrowse link
split hand-foot malformation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 OMIM
ClinVar		 PMID:3366140 PMID:9536098 PMID:10535733 PMID:10839977 PMID:12161593 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
split hand-foot malformation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,671,136...64,823,956
Ensembl chr2B:182,375,149...182,520,557 		JBrowse link
G ATF2 activating transcription factor 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007 		JBrowse link
G ATP5MC3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:62,454,409...62,458,067
Ensembl chr2B:179,904,984...179,909,159 		JBrowse link
G CDCA7 cell division cycle associated 7 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:60,640,994...60,655,158
Ensembl chr2B:178,095,804...178,109,806 		JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:62,074,405...62,283,013 JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763 		JBrowse link
G CIR1 corepressor interacting with RBPJ, CIR1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,625,357...61,673,614
Ensembl chr2B:179,080,721...179,127,831 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,725,392...58,776,238
Ensembl chr2B:176,184,348...176,234,825 		JBrowse link
G DLX1 distal-less homeobox 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,382,156...59,387,100
Ensembl chr2B:176,839,721...176,843,909 		JBrowse link
G DLX2 distal-less homeobox 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,396,841...59,400,297
Ensembl chr2B:176,853,913...176,857,079 		JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638 		JBrowse link
G ERICH2 glutamate rich 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,054,748...58,083,040
Ensembl chr2B:175,525,842...175,540,964 		JBrowse link
G EVX2 even-skipped homeobox 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,359,892...63,364,762 JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944 		JBrowse link
G GORASP2 golgi reassembly stacking protein 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,212,365...58,251,005
Ensembl chr2B:175,670,404...175,708,525 		JBrowse link
G GPR155 G protein-coupled receptor 155 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,710,094...61,764,434
Ensembl chr2B:179,166,785...179,218,301 		JBrowse link
G HAT1 histone acetyltransferase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,211,555...59,281,203
Ensembl chr2B:176,670,029...176,739,120 		JBrowse link
G HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,491,827...64,503,095
Ensembl chr2B:182,196,645...182,207,937 		JBrowse link
G HOXD1 homeobox D1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,468,317...63,470,658 JBrowse link
G HOXD10 homeobox D10 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963 		JBrowse link
G HOXD11 homeobox D11 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,386,806...63,398,777 JBrowse link
G HOXD12 homeobox D12 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,379,611...63,382,293
Ensembl chr2B:181,089,181...181,091,055 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,372,517...63,375,731 JBrowse link
G HOXD3 homeobox D3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,432,720...63,452,816
Ensembl chr2B:181,141,538...181,161,604 		JBrowse link
G HOXD4 homeobox D4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,429,084...63,432,972
Ensembl chr2B:181,140,175...181,141,484 		JBrowse link
G HOXD8 homeobox D8 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,409,223...63,412,146 JBrowse link
G HOXD9 homeobox D9 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,401,813...63,404,731
Ensembl chr2B:181,112,002...181,113,415 		JBrowse link
G IFT70A intraflagellar transport 70A ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,874,886...64,884,786
Ensembl chr2B:182,599,089...182,601,086
Ensembl chr2B:182,599,089...182,601,086 		JBrowse link
G IFT70B intraflagellar transport 70B ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,829,061...64,835,473
Ensembl chr2B:182,533,065...182,535,062 		JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,714,348...59,794,762
Ensembl chr2B:177,169,536...177,250,143 		JBrowse link
G LNPK lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,197,335...63,279,473
Ensembl chr2B:180,909,968...180,989,448 		JBrowse link
G LOC100972759 plasma membrane ascorbate-dependent reductase CYBRD1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,813,554...58,849,162
Ensembl chr2B:176,272,010...176,307,618 		JBrowse link
G LOC100982736 dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,903,170...65,332,922
Ensembl chr2B:182,611,762...183,038,353 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556 		JBrowse link
G METAP1D methionyl aminopeptidase type 1D, mitochondrial ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,297,101...59,379,867
Ensembl chr2B:176,755,294...176,836,673 		JBrowse link
G METTL8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,605,042...58,725,999
Ensembl chr2B:176,070,609...176,183,862 		JBrowse link
G MTX2 metaxin 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:63,550,345...63,613,626
Ensembl chr2B:181,258,622...181,321,912 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G OLA1 Obg like ATPase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,349,811...61,525,617
Ensembl chr2B:178,809,783...178,981,763 		JBrowse link
G PDK1 pyruvate dehydrogenase kinase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,841,840...59,958,504
Ensembl chr2B:177,297,840...177,341,113 		JBrowse link
G RAPGEF4 Rap guanine nucleotide exchange factor 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:60,022,738...60,339,981
Ensembl chr2B:177,655,733...177,793,644 		JBrowse link
G SCRN3 secernin 3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,673,624...61,707,934
Ensembl chr2B:179,127,961...179,161,560 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894 		JBrowse link
G SP3 Sp3 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,185,975...61,243,155
Ensembl chr2B:178,639,677...178,692,848 		JBrowse link
G SP5 Sp5 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,000,430...58,003,659 JBrowse link
G SP9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,612,140...61,615,694 JBrowse link
G TLK1 tousled like kinase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:58,277,362...58,445,321
Ensembl chr2B:175,735,054...175,903,322 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695 		JBrowse link
split hand-foot malformation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10B Wnt family member 10B ISO ClinVar Annotator: match by term: Split hand-foot malformation 6 OMIM
ClinVar		 PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:25741913 More... NCBI chr12:39,771,163...39,785,411
Ensembl chr12:40,659,106...40,665,734 		JBrowse link
Split-Foot Malformation with Mesoaxial Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26755636 PMID:28492532 PMID:30237576 More... NCBI chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556 		JBrowse link
Split-Hand/Foot Malformation with Long Bone Deficiency 3 term browser
Symbol Object Name 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: Chromosome 17P13.3, telomeric, duplication syndrome ClinVar PMID:25741868 NCBI chr17:1,254,307...1,255,919 JBrowse link
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome ClinVar PMID:25741868 NCBI chr17:1,262,220...1,286,565
Ensembl chr17:1,162,442...1,186,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2300
        split hand-foot malformation 64
          Split-Foot Malformation with Mesoaxial Polydactyly 1
          Split-Hand and Split-Foot With Hypodontia 0
          Split-Hand-Foot Malformation with Long Bone Deficiency 1 0
          Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
          Split-Hand/Foot Malformation with Long Bone Deficiency 3 2
          split hand-foot malformation 1 3
          split hand-foot malformation 1 with sensorineural hearing loss 1
          split hand-foot malformation 2 0
          split hand-foot malformation 3 1
          split hand-foot malformation 4 1
          split hand-foot malformation 5 48
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              split hand-foot malformation 64
                Split-Foot Malformation with Mesoaxial Polydactyly 1
                Split-Hand and Split-Foot With Hypodontia 0
                Split-Hand-Foot Malformation with Long Bone Deficiency 1 0
                Split-Hand/Foot Malformation with Long Bone Deficiency 2 0
                Split-Hand/Foot Malformation with Long Bone Deficiency 3 2
                split hand-foot malformation 1 3
                split hand-foot malformation 1 with sensorineural hearing loss 1
                split hand-foot malformation 2 0
                split hand-foot malformation 3 1
                split hand-foot malformation 4 1
                split hand-foot malformation 5 48
                split hand-foot malformation 6 1
paths to the root