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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:Contracture of the proximal interphalangeal joint of the 2nd finger
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Accession:HP:0009540 term browser browse the term
Definition:Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Synonyms:exact_synonym: Camptodactyly of 2nd finger;   Camptodactyly of index finger;   Camptodactyly of second finger
 xref: UMLS:C4021451



show annotations for term's descendants           Sort by:
Contracture of the proximal interphalangeal joint of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:609813 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of limbs 3143
        Abnormality of the upper limb 2079
          Abnormality of the hand 1903
            Abnormal finger morphology 1349
              Abnormal 2nd finger morphology 43
                Flexion contracture of the 2nd finger 5
                  Contracture of the proximal interphalangeal joint of the 2nd finger 5
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8604
          Abnormal skeletal morphology 8021
            Abnormal tendon morphology 1168
              Joint contracture 1110
                Flexion contracture 1082
                  Limb joint contracture 687
                    Upper-limb joint contracture 571
                      Joint contracture of the hand 500
                        Finger joint contracture 273
                          Flexion contracture of finger 270
                            Interphalangeal joint contracture of finger 246
                              Camptodactyly of finger 232
                                Contracture of the proximal interphalangeal joint of the 2nd finger 5
paths to the root