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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:Lower Extremity Deformities, Congenital
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Accession:DOID:9007794 term browser browse the term
Definition:Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms:exact_synonym: Lower Limb Deformities, Congenital
 primary_id: MESH:D038061;   RDO:0000381
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Lower Extremity Deformities, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9409668 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		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 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
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:25741868 PMID:33537682 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 More... 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 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss		 OMIM
ClinVar
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
clubfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISS OMIM:119800 MouseDO NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		JBrowse link
G Flnb filamin B ISO DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) RGD PMID:27395407 RGD:12791025 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISS OMIM:119800 MouseDO NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP RGD PMID:19925654 RGD:12738235 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:119800 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Hoxd12 homeo box D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot OMIM
ClinVar		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Ret ret proto-oncogene ISS OMIM:119800 MouseDO NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISS OMIM:119800 MouseDO NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:21288981 PMID:25741868 PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223 		JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
Complex Camptosynpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Camptosynpolydactyly, complex OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301 		JBrowse link
Congenital Foot Deformities 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 CTD PMID:11940089 NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		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 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 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
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO ClinVar Annotator: match by term: Congenital vertical talus OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		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: Gordon syndrome 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
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 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 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
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken syndrome		 ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
Flatfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		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 term: Fuhrmann syndrome OMIM
ClinVar		 PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		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
CTD Direct Evidence: marker/mechanism		 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
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358 		JBrowse link
Holt-Oram 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 DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:12843316 RGD:11556209 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Holt-Oram syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G125R (human)
DNA:missense mutations, deletion:cds:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 More... RGD:1578428, RGD:7327219, RGD:7327217 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)		 OMIM
ClinVar
RGD		 PMID:7581378 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 More... RGD:12801470 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		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 OMIM
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		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
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
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:19606471 PMID:22366787 PMID:22426308 PMID:22822383 More... NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)		 ClinVar
CTD
OMIM
RGD		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteofibrous dysplasia		 CTD
ClinVar
OMIM		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Patterson Stevenson 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: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar
OMIM		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS		 ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 ClinVar
MouseDO		 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
Preaxial Polydactyly II 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: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		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 term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407 		JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379 		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, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
Talipes Cavus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		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) 		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
Teebi hypertelorism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 ClinVar
OMIM		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:30472488 PMID:31953237 More... NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 ClinVar
OMIM		 PMID:33811546 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		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-pigmentary defects syndrome OMIM
ClinVar		 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 PMID:15864382 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 Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,004,710...84,028,064
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:10615131 PMID:10679937 PMID:11112658 PMID:11391482 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		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
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      musculoskeletal system disease 7303
        Musculoskeletal Abnormalities 2832
          Congenital Limb Deformities 657
            Lower Extremity Deformities, Congenital 102
              Congenital Foot Deformities + 93
              Corneodermatoosseous Syndrome 0
              Ectrodactyly Cardiopathy Dysmorphism 0
              Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
              Familial Streblodactyly 0
              Holt-Oram syndrome 3
              Keipert syndrome 1
              Merlob Grunebaum Reisner Syndrome 0
              Osteofibrous Dysplasia 1
              popliteal pterygium syndrome + 3
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        Congenital Abnormalities 6823
          Musculoskeletal Abnormalities 2832
            Congenital Limb Deformities 657
              Lower Extremity Deformities, Congenital 102
                Congenital Foot Deformities + 93
                Corneodermatoosseous Syndrome 0
                Ectrodactyly Cardiopathy Dysmorphism 0
                Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
                Familial Streblodactyly 0
                Holt-Oram syndrome 3
                Keipert syndrome 1
                Merlob Grunebaum Reisner Syndrome 0
                Osteofibrous Dysplasia 1
                popliteal pterygium syndrome + 3
paths to the root