Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormal 2nd finger morphology (HP:0004100)help
Parent Node:
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Triangular shaped phalanges of the hand (HP:0009774)help
..Starting node
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Abnormality of the phalanges of the 2nd finger (HP:0009541)help
Term ID: 9541
Name: Abnormality of the phalanges of the 2nd finger
Synonym: Abnormal index finger bones; Abnormality of 2nd finger phalanges
Definition: Abnormality of the phalanges of the 2nd (index) finger.
Comments:
Reference: HP:0009541
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the distal phalanx of the 2nd finger (HP:0009542) help
................... HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger
................... HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
................... HP:0009558 Broad distal phalanx of the 2nd finger
................... HP:0009559 Bullet-shaped distal phalanx of the 2nd finger
................... HP:0009560 Curved distal phalanx of the 2nd finger
................... HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger
................... HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger
................... HP:0009563 Distal/middle symphalangism of 2nd finger
................... HP:0009564 Triangular shaped distal phalanx of the 2nd finger
................... HP:0009948 Duplication of the distal phalanx of the 2nd finger
........expandAbnormality of the middle phalanx of the 2nd finger (HP:0009543) help
................... HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger
................... HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
................... HP:0009569 Broad middle phalanx of the 2nd finger
................... HP:0009570 Bullet-shaped middle phalanx of the 2nd finger
................... HP:0009571 Curved middle phalanx of the 2nd finger
................... HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger
................... HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger
................... HP:0009574 Symphalangism of middle phalanx of 2nd finger
................... HP:0009575 Triangular shaped middle phalanx of the 2nd finger
................... HP:0009949 Duplication of the middle phalanx of the 2nd finger
........expandAbnormality of the proximal phalanx of the 2nd finger (HP:0009544) help
................... HP:0006206 Hypersegmentation of proximal phalanx of second finger
................... HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
................... HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
................... HP:0009581 Broad proximal phalanx of the 2nd finger
................... HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger
................... HP:0009583 Curved proximal phalanx of the 2nd finger
................... HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger
................... HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger
................... HP:0009586 Symphalangism affecting the proximal phalanx of the 2nd finger
................... HP:0009587 Triangular shaped proximal phalanx of the 2nd finger
................... HP:0009947 Duplication of the proximal phalanx of the 2nd finger
........expandSymphalangism of the 2nd finger (HP:0009545) help
................... HP:0009574 Symphalangism of middle phalanx of 2nd finger
................... HP:0009586 Symphalangism affecting the proximal phalanx of the 2nd finger
........expandTriangular shaped phalanges of the 2nd finger (HP:0009546) help
................... HP:0009564 Triangular shaped distal phalanx of the 2nd finger
................... HP:0009575 Triangular shaped middle phalanx of the 2nd finger
................... HP:0009587 Triangular shaped proximal phalanx of the 2nd finger
........expandBroad phalanges of the 2nd finger (HP:0009547) help
................... HP:0009558 Broad distal phalanx of the 2nd finger
................... HP:0009569 Broad middle phalanx of the 2nd finger
................... HP:0009581 Broad proximal phalanx of the 2nd finger
........expandCurved phalanges of the 2nd finger (HP:0009549) help
................... HP:0009560 Curved distal phalanx of the 2nd finger
................... HP:0009571 Curved middle phalanx of the 2nd finger
................... HP:0009583 Curved proximal phalanx of the 2nd finger
........expandOsteolytic defects of the phalanges of the 2nd finger (HP:0009550) help
................... HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger
................... HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger
................... HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger
........expandAplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552) help
................... HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
................... HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
................... HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
........expandDuplication of phalanx of 2nd finger (HP:0009945) help
................... HP:0009947 Duplication of the proximal phalanx of the 2nd finger
................... HP:0009948 Duplication of the distal phalanx of the 2nd finger
................... HP:0009949 Duplication of the middle phalanx of the 2nd finger
................... HP:0009956 Partial duplication of the phalanges of the 2nd finger
................... HP:0009957 Complete duplication of the phalanges of the 2nd finger
........expandSclerosis of 2nd finger phalanx (HP:0100918) help
................... HP:0009494 Ivory epiphyses of the 2nd finger
................... HP:0009551 Patchy sclerosis of 2nd finger phalanx
................... HP:0100900 Sclerosis of the distal phalanx of the 2nd finger
................... HP:0100904 Sclerosis of the middle phalanx of the 2nd finger
................... HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger

 Sister Nodes: 
..expandAbnormality of thumb phalanx (HP:0009602) help
..expandTriangular shaped distal phalanges of the hand (HP:0009875) help
..expandTriangular shaped middle phalanges of the hand (HP:0009850) help
..expandTriangular shaped phalanges of the 3rd finger (HP:0009446) help
..expandTriangular shaped phalanges of the 4th finger (HP:0009407) help
..expandTriangular shaped phalanges of the 5th finger (HP:0009378) help
..expandTriangular shaped proximal phalanges of the hand (HP:0009858) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009541HP:0009541Abnormality of the phalanges of the 2nd finger0 CL E G H
HP:0009541HP:0009541Abnormality of the phalanges of the 2nd finger1 CL E G H
HP:0009541HP:0009541Abnormality of the phalanges of the 2nd finger2 CL E G H
HP:0009541HP:0009541Abnormality of the phalanges of the 2nd finger3 CL E G H


Genes (11) :BHLHA9 BMP2 BMPR1B COL2A1 FGFR2 GDF5 HOXD13 INTU MYCN RUNX2 TWIST1

Diseases (13) :609432 93396 112600 616849 113100 164280 271700 101400 615072 93409 617926 119600 156510
 

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