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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:Abnormality of the proximal phalanx of the thumb
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Accession:HP:0009618 term browser browse the term
Definition:An anomaly of the shape or form of the proximal phalanx of the thumb.
Comment:In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:probinson"}
Synonyms:exact_synonym: Abnormal innermost thumb bone;   Abnormality of proximal thumb phalanx
 alt_id: HP:0004076
 xref: UMLS:C4021421


show annotations for term's descendants           Sort by:
Absent proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Complete duplication of proximal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP ORPHA:363417 HPO NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Short proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NONO non-POU domain containing octamer binding IAGP OMIM:300967 HPO NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP OMIM:309500 HPO NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
Triangular shaped proximal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Triangular shaped proximal phalanx of the thumb ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Triangular shaped proximal phalanx of the thumb ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Triangular shaped proximal phalanx of the thumb ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of limbs 2447
        Abnormality of the upper limb 1745
          Abnormality of the hand 1588
            Abnormality of finger 1187
              Abnormal thumb morphology 391
                Abnormality of thumb phalanx 196
                  Abnormality of the proximal phalanx of the thumb 10
                    Abnormality of the epiphysis of the proximal phalanx of the thumb + 0
                    Aplasia/Hypoplasia of the proximal phalanx of the thumb + 3
                    Broad proximal phalanx of the thumb 0
                    Bullet-shaped proximal phalanx of the thumb 0
                    Curved proximal phalanx of the thumb 0
                    Duplication of the proximal phalanx of the thumb + 2
                    Osteolytic defect of the proximal phalanx of the thumb 0
                    Patchy sclerosis of the proximal phalanx of the thumb 0
                    Synostosis of thumb phalanx + 2
                    Triangular shaped proximal phalanx of the thumb 3
Path 2
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the musculoskeletal system 4269
        Abnormality of the skeletal system 3435
          Abnormal skeletal morphology 3318
            Abnormal appendicular skeleton morphology 1884
              Abnormality of limb bone morphology 1753
                Abnormal digit morphology 1538
                  Abnormality of finger 1187
                    Abnormal thumb morphology 391
                      Abnormality of thumb phalanx 196
                        Abnormality of the proximal phalanx of the thumb 10
                          Abnormality of the epiphysis of the proximal phalanx of the thumb + 0
                          Aplasia/Hypoplasia of the proximal phalanx of the thumb + 3
                          Broad proximal phalanx of the thumb 0
                          Bullet-shaped proximal phalanx of the thumb 0
                          Curved proximal phalanx of the thumb 0
                          Duplication of the proximal phalanx of the thumb + 2
                          Osteolytic defect of the proximal phalanx of the thumb 0
                          Patchy sclerosis of the proximal phalanx of the thumb 0
                          Synostosis of thumb phalanx + 2
                          Triangular shaped proximal phalanx of the thumb 3
paths to the root