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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;   MIM: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 chr 1:254,159,085...254,324,819
Ensembl chr 1:254,159,124...254,328,357 		JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr 1:254,357,755...254,375,918
Ensembl chr 1:254,357,778...254,375,918 		JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr 1:254,375,921...254,465,173
Ensembl chr 1:254,375,923...254,463,277 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr 1:254,033,009...254,034,826
Ensembl chr 1:254,033,009...254,034,826 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 PMID:35583550 NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:222,340,704...222,453,929 		JBrowse link
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISS
ISO 		ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY MouseDO
ClinVar		 PMID:26755636 NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Split hand-foot malformation ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 5:114,544,327...114,576,023
Ensembl chr 5:114,544,325...114,576,109 		JBrowse link
G Poll DNA polymerase lambda ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr 1:254,349,229...254,357,689
Ensembl chr 1:254,349,231...254,358,020 		JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:21681106 NCBI chr 1:253,954,197...253,960,458
Ensembl chr 1:253,954,197...253,960,458 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Split hand-foot malformation ClinVar PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 PMID:34040189 NCBI chr 1:95,912,422...95,939,870
Ensembl chr 1:95,912,430...95,939,901 		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
ISS 		OMIM:183600
ClinVar Annotator: match by term: Split hand-foot malformation 1 		OMIM
MouseDO
ClinVar		 PMID:24496061 PMID:25196357 PMID:25741868 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
G Dlx6 distal-less homeobox 6 ISS
ISO 		OMIM:183600
ClinVar Annotator: match by term: DLX6-related condition 		MouseDO
ClinVar		 PMID:28492532 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354 		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 chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss 		OMIM
CTD
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
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 chr 1:254,375,921...254,465,173
Ensembl chr 1:254,375,923...254,463,277 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R227Q (c.680G>A) (human)
DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human) 		OMIM
ClinVar
CTD
RGD		 PMID:3366140 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 More... RGD:11568644, RGD:11568638 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		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 chr 3:81,154,599...81,253,099
Ensembl chr 3:81,154,604...81,258,277 		JBrowse link
G Atf2 activating transcription factor 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:79,126,705...79,202,745 		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 chr 3:79,218,014...79,220,664
Ensembl chr 3:79,218,014...79,220,664 		JBrowse link
G Cdca7 cell division cycle associated 7 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:77,730,315...77,740,950
Ensembl chr 3:77,729,970...77,740,947 		JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,917,329...79,084,040
Ensembl chr 3:78,917,329...79,084,197 		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 chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353 		JBrowse link
G Cir1 corepressor interacting with RBPJ, CIR1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,566,438...78,596,309
Ensembl chr 3:78,566,438...78,596,309 		JBrowse link
G Cybrd1 cytochrome b reductase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,342,231...76,369,846
Ensembl chr 3:76,342,404...76,370,061 		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 chr 3:76,271,503...76,303,321
Ensembl chr 3:76,271,519...76,303,320 		JBrowse link
G Dlx1 distal-less homeobox 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,763,864...76,768,454
Ensembl chr 3:76,763,500...76,768,447 		JBrowse link
G Dlx2 distal-less homeobox 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,777,912...76,781,255
Ensembl chr 3:76,777,912...76,781,255 		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 chr 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782 		JBrowse link
G Erich2 glutamate-rich 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:75,718,573...75,755,447
Ensembl chr 3:75,718,720...75,755,446 		JBrowse link
G Evx2 even-skipped homeobox 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,965,630...79,969,700
Ensembl chr 3:79,965,630...79,969,305 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Gorasp2 golgi reassembly stacking protein 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:75,882,607...75,911,322
Ensembl chr 3:75,882,515...75,911,328 		JBrowse link
G Gpr155 G protein-coupled receptor 155 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,623,931...78,677,803
Ensembl chr 3:78,607,976...78,677,803 		JBrowse link
G Hat1 histone acetyltransferase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,624,442...76,672,701
Ensembl chr 3:76,624,869...76,672,696 		JBrowse link
G Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,984,470...80,999,413
Ensembl chr 3:80,985,969...80,996,043 		JBrowse link
G Hoxd1 homeo box D1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,073,041...80,075,180
Ensembl chr 3:80,073,041...80,075,180 		JBrowse link
G Hoxd10 homeo box D10 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:80,001,689...80,005,156 		JBrowse link
G Hoxd11 homeobox D11 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,992,394...79,994,688
Ensembl chr 3:79,992,394...79,994,688 		JBrowse link
G Hoxd12 homeo box D12 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,985,106...79,986,227
Ensembl chr 3:79,985,106...79,986,227 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Hoxd3 homeo box D3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,041,598...80,057,700
Ensembl chr 3:80,046,126...80,057,700 		JBrowse link
G Hoxd4 homeo box D4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,021,886...80,041,462
Ensembl chr 3:80,036,900...80,038,948 		JBrowse link
G Hoxd8 homeobox D8 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,015,223...80,017,789
Ensembl chr 3:80,014,735...80,018,765 		JBrowse link
G Hoxd9 homeo box D9 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,008,006...80,010,186
Ensembl chr 3:80,007,668...80,010,171 		JBrowse link
G Ift70a2 intraflagellar transport 70A2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:81,306,455...81,308,896
Ensembl chr 3:81,307,245...81,320,093 		JBrowse link
G Ift70b intraflagellar transport 70B ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:81,263,074...81,265,645 JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:77,017,766...77,097,076 		JBrowse link
G Lnpk lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:79,826,318...79,894,514
Ensembl chr 3:79,832,753...79,894,403 		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 chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		JBrowse link
G Metap1d methionyl aminopeptidase type 1D (mitochondrial) ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,687,149...76,759,681
Ensembl chr 3:76,687,171...76,759,655 		JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:76,140,465...76,271,367
Ensembl chr 3:76,144,178...76,271,400 		JBrowse link
G Mir10b microRNA 10b ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,035,859...80,035,967
Ensembl chr 3:80,035,859...80,035,967 		JBrowse link
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:80,137,556...80,199,547
Ensembl chr 3:80,137,581...80,271,684 		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 chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Ola1 Obg-like ATPase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,374,440...78,493,401
Ensembl chr 3:78,374,441...78,492,012 		JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:81,320,822...81,704,397
Ensembl chr 3:81,320,822...81,680,612 		JBrowse link
G Pdk1 pyruvate dehydrogenase kinase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:77,113,464...77,144,145
Ensembl chr 3:77,113,473...77,144,145 		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 chr 3:77,217,024...77,509,933
Ensembl chr 3:77,217,039...77,509,978 		JBrowse link
G Scrn3 secernin 3 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,596,330...78,621,132
Ensembl chr 3:78,596,386...78,621,132 		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 chr 3:76,504,868...76,599,536
Ensembl chr 3:76,504,868...76,599,536 		JBrowse link
G Sp3 Sp3 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,219,421...78,272,318
Ensembl chr 3:78,219,426...78,264,517 		JBrowse link
G Sp5 Sp5 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:75,682,677...75,685,479
Ensembl chr 3:75,682,677...75,685,479 		JBrowse link
G Sp9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:78,554,345...78,556,875
Ensembl chr 3:78,554,206...78,558,072 		JBrowse link
G Tlk1 tousled-like kinase 1 ISO ClinVar Annotator: match by term: Split hand-foot malformation 5 ClinVar PMID:25741868 NCBI chr 3:75,928,303...76,035,246
Ensembl chr 3:75,928,303...76,035,059 		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 chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Split hand-foot malformation 6 | ClinVar Annotator: match by term: WNT10B-related condition 		OMIM
CTD
ClinVar		 PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:27321946 More... NCBI chr 7:131,801,046...131,806,850
Ensembl chr 7:131,801,046...131,806,850 		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:26755636 PMID:27816943 PMID:28492532 PMID:30237576 More... NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		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 chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome ClinVar PMID:25741868 NCBI chr10:62,019,281...62,039,666
Ensembl chr10:62,019,189...62,039,648 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        split hand-foot malformation 65
          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 49
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              split hand-foot malformation 65
                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 49
                split hand-foot malformation 6 1
paths to the root