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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;   MESH:C574275
 xref: GARD:6319;   OMIM:PS183600;   ORDO:2440
For additional species annotation, visit the Alliance of Genome Resources.

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: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:265,100,094...265,270,263
Ensembl chr 1:265,157,379...265,269,837 		JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISO ClinVar Annotator: match by term: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:265,298,872...265,318,521
Ensembl chr 1:265,298,868...265,317,860 		JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		JBrowse link
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:264,973,315...264,975,132
Ensembl chr 1:264,973,315...264,975,132 		JBrowse link
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISS MouseDO NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr 5:113,548,913...113,578,928
Ensembl chr 5:113,548,913...113,578,928 		JBrowse link
G Poll DNA polymerase lambda ISO ClinVar Annotator: match by term: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:265,290,337...265,298,847
Ensembl chr 1:265,290,339...265,298,797 		JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO ClinVar Annotator: match by term: Split-Hand/Foot Malformation ClinVar PMID:21681106 NCBI chr 1:264,893,033...264,899,424
Ensembl chr 1:264,893,162...264,899,423 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		JBrowse link
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Ectrodactyly ClinVar PMID:25741868 NCBI chr 1:90,010,681...90,035,522
Ensembl chr 1:90,011,306...90,035,522 		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 ClinVar
OMIM		 PMID:24496061, PMID:25196357 NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007 		JBrowse link
G Dlx6 distal-less homeobox 6 ISS OMIM:183600 MouseDO NCBI chr 4:32,373,096...32,377,388
Ensembl chr 4:32,373,641...32,377,253 		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 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369 		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 OMIM:220600 OMIM
ClinVar		 PMID:22121204 NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007 		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 OMIM
ClinVar		 PMID:28492532 NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Split-hand/foot malformation 4
DNA:missense mutations:exon:p.R227Q (c.680G>A) (human)
DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human)		 OMIM
CTD
ClinVar		 PMID:3366140, PMID:10839977, PMID:15736220, PMID:16688749, PMID:23736768, PMID:11462173 RGD:11568644, RGD:11568638 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		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: ECTRODACTYLY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:225300
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:12072797, PMID:18515319, PMID:20635353, PMID:25741868 NCBI chr 7:140,448,284...140,466,159
Ensembl chr 7:140,448,465...140,454,268 		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 ClinVar
OMIM		 PMID:26755636 NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        split hand-foot malformation 14
          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 0
          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 0
          split hand-foot malformation 6 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              split hand-foot malformation 14
                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 0
                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 0
                split hand-foot malformation 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.