Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of finger (HP:0001167)help
..Starting node
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Swan neck-like deformities of the fingers (HP:0006150)help
Term ID: 6150
Name: Swan neck-like deformities of the fingers
Synonym:
Definition: A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
Comments:
Reference: HP:0006150
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal 5th finger morphology (HP:0004207) help
..expandAbnormal finger flexion creases (HP:0006143) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal fingertip morphology (HP:0001211) help
..expandAbnormal thumb morphology (HP:0001172) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandBroad finger (HP:0001500) help
..expandChilblains (HP:0009710) help
..expandCurved fingers (HP:0004095) help
..expandDeviation of finger (HP:0004097) help
..expandFinger dactylitis (HP:0031090) help
..expandFinger joint hypermobility (HP:0006094) help
..expandFinger swelling (HP:0025131) help
..expandLong fingers (HP:0100807) help
..expandMacrodactyly of finger (HP:0100746) help
..expandMallet finger (HP:0030771) help
..expandSlender finger (HP:0001238) help
..expandSpindle-shaped finger (HP:0031092) help
..expandSplayed fingers (HP:0030029) help
..expandTrident hand (HP:0004060) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006150HP:0006150Swan neck-like deformities of the fingers0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1264119110519604490
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :SACS

Diseases (1) :270550
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.