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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Deviation of the 5th toe
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Accession:HP:0010344 term browser browse the term
Synonyms:exact_synonym: Displacement of the 5th toe;   Displacement of the little toe;   Displacement of the pinkie toe;   Displacement of the pinky toe
 xref: UMLS:C4021291


show annotations for term's descendants           Sort by:
Deviation of the 5th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
Clinodactyly of the 5th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:601110 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein IAGP HPO ORPHA:99977 NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Clinodactyly of the 5th toe ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Clinodactyly of the 5th toe ClinVar PMID:25741868 PMID:28492532 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HEPHL1 hephaestin like 1 IAGP HPO MIM:261990 NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G PIGH phosphatidylinositol glycan anchor biosynthesis class H IAGP HPO MIM:618010 NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RNF6 ring finger protein 6 IAGP HPO ORPHA:99977 NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO MIM:107480 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:99977 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:99977 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
Tibial deviation of the 5th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of limbs 3147
        Abnormality of the lower limb 2184
          Abnormal foot morphology 1564
            Abnormal toe morphology 740
              Abnormal fifth toe morphology 97
                Deviation of the 5th toe 18
                  Clinodactyly of the 5th toe 15
                  Fibular deviation of the 5th toe 0
                  Tibial deviation of the 5th toe 1
Path 2
Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of the musculoskeletal system 9765
        Abnormality of the skeletal system 8649
          Abnormal skeletal morphology 8065
            Abnormal appendicular skeleton morphology 2149
              Abnormal limb bone morphology 1982
                Abnormal digit morphology 1703
                  Abnormal toe morphology 740
                    Deviation of toes 122
                      Deviation of the 5th toe 18
                        Clinodactyly of the 5th toe 15
                        Fibular deviation of the 5th toe 0
                        Tibial deviation of the 5th toe 1
paths to the root