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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:Short middle phalanx of the 5th finger
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Accession:HP:0004220 term browser browse the term
Definition:Hypoplastic/small middle phalanx of the fifth finger.
Comment:Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
Synonyms:exact_synonym: 5th finger middle phalangeal hypoplasia;   Brachymesophalangism V;   Fifth finger mid-phalanx hypoplasia;   Hypoplastic fifth finger middle phalanx;   Hypoplastic middle phalanx of the 5th finger;   Hypoplastic/small middle phalanx of the 5th finger;   Hypoplastic/small middle phalanx of the little finger;   Short middle bone of the little finger;   Short middle bone of the pinkie finger;   Short middle bone of the pinky finger;   Short middle phalanx of the little finger;   Type A3 brachydactyly
 alt_id: HP:0001243;   HP:0003069;   HP:0004221;   HP:0005649;   HP:0005706;   HP:0005734;   HP:0005813
 xref: UMLS:C1834060


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Short middle phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 ORPHA:93396 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 OMIM:616849 ORPHA:93396 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 OMIM:615072 ORPHA:63442 ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NIN ninein IAGP ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ORPHA:46627 HPO NCBI chr 6:50,817,692...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G WNT5A Wnt family member 5A IAGP OMIM:180700 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13342
    Phenotypic abnormality 13339
      Abnormality of limbs 2134
        Abnormality of the upper limb 1508
          Abnormality of the hand 1390
            Abnormal hand morphology 377
              Short finger 291
                Short 5th finger 39
                  Short middle phalanx of the 5th finger 17
Path 2
Term Annotations click to browse term
  Human phenotype 13342
    Phenotypic abnormality 13339
      Abnormality of the musculoskeletal system 3768
        Abnormality of the skeletal system 3086
          Abnormality of skeletal morphology 2973
            Abnormal appendicular skeleton morphology 1655
              Abnormality of limb bone morphology 1542
                Aplasia/hypoplasia involving bones of the extremities 615
                  Aplasia/hypoplasia involving bones of the upper limbs 517
                    Aplasia/hypoplasia involving bones of the hand 485
                      Aplasia/Hypoplasia of fingers 327
                        Short finger 291
                          Short middle phalanx of finger 42
                            Short middle phalanx of the 5th finger 17
paths to the root