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ONTOLOGY REPORT - ANNOTATIONS
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: ECD;   lobster-claw deformity;   split hand foot deformity;   split hand/foot malformation;   split-hand deformity
 related_synonym: Ectrodactyly
 primary_id: MESH:C535777;   MESH:C574275
 xref: GARD:6319;   OMIM:PS183600
For additional species annotation, visit the Alliance of Genome Resources.

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split hand-foot malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btrc beta-transducin repeat containing E3 ubiquitin protein ligase JBrowse link 1 265,100,094 265,270,263 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:8554872
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:8554872
G Lbx1 ladybird homeobox 1 JBrowse link 1 264,973,315 264,975,132 RGD:8554872
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:13592920
G Plaa phospholipase A2, activating protein JBrowse link 5 113,548,913 113,578,928 RGD:8554872
G Poll DNA polymerase lambda JBrowse link 1 265,290,337 265,298,847 RGD:8554872
G Tlx1 T-cell leukemia, homeobox 1 JBrowse link 1 264,893,033 264,899,424 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8554872
split hand-foot malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:13592920
RGD:8554872
G Dlx6 distal-less homeobox 6 JBrowse link 4 32,373,096 32,377,388 RGD:13592920
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
G Sem1 SEM1, 26S proteasome complex subunit JBrowse link 4 32,067,444 32,087,600 RGD:7240710
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:7240710
RGD:8554872
split hand-foot malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:7240710
split hand-foot malformation 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568644
RGD:11568638
split hand-foot malformation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10b Wnt family member 10B JBrowse link 7 140,448,284 140,466,159 RGD:7240710
RGD:8554872
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        split hand-foot malformation 13
          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 4
          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 15639
    disease of anatomical entity 14969
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              split hand-foot malformation 13
                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 4
                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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