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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Abnormal 2nd finger morphology (HP:0004100)help
Term ID: 4100
Name: Abnormal 2nd finger morphology
Synonym: Abnormality of index finger; Abnormality of the 2nd finger
Definition: An anomaly of the second finger, also known as the index finger.
Comments:
Reference: HP:0004100
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the epiphyses of the 2nd finger (HP:0006263) help
................... HP:0009488 Absent epiphyses of the 2nd finger
................... HP:0009489 Bracket epiphyses of the 2nd finger
................... HP:0009490 Cone-shaped epiphyses of the 2nd finger
................... HP:0009491 Enlarged epiphyses of the 2nd finger
................... HP:0009492 Fragmentation of the epiphyses of the 2nd finger
................... HP:0009493 Irregular epiphyses of the 2nd finger
................... HP:0009494 Ivory epiphyses of the 2nd finger
................... HP:0009495 Pseudoepiphyses of the 2nd finger
................... HP:0009496 Small epiphyses of the 2nd finger
................... HP:0009497 Stippling of the epiphyses of the 2nd finger
................... HP:0009498 Triangular epiphyses of the 2nd finger
................... HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger
................... HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger
................... HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
........expandAplasia/Hypoplasia of the 2nd finger (HP:0006264) help
................... HP:0009535 Aplasia of the 2nd finger
................... HP:0009536 Short 2nd finger
........expandDeviation of the 2nd finger (HP:0009468) help
................... HP:0009464 Ulnar deviation of the 2nd finger
................... HP:0009467 Radial deviation of the 2nd finger
................... HP:0040022 Clinodactyly of the 2nd finger
........expandFlexion contracture of the 2nd finger (HP:0009537) help
................... HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger
................... HP:0009539 Contracture of the metacarpophalangeal joint of the 2nd finger
................... HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger
........expandAbnormality of the phalanges of the 2nd finger (HP:0009541) help
................... HP:0009542 Abnormality of the distal phalanx of the 2nd finger
................... HP:0009543 Abnormality of the middle phalanx of the 2nd finger
................... HP:0009544 Abnormality of the proximal phalanx of the 2nd finger
................... HP:0009545 Symphalangism of the 2nd finger
................... HP:0009546 Triangular shaped phalanges of the 2nd finger
................... HP:0009547 Broad phalanges of the 2nd finger
................... HP:0009549 Curved phalanges of the 2nd finger
................... HP:0009550 Osteolytic defects of the phalanges of the 2nd finger
................... HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger
................... HP:0009945 Duplication of phalanx of 2nd finger
................... HP:0100918 Sclerosis of 2nd finger phalanx
........expandPolydactyly affecting the 2nd finger (HP:0009946) help
................... HP:0009945 Duplication of phalanx of 2nd finger

 Sister Nodes: 
..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
..expandSwan neck-like deformities of the fingers (HP:0006150) help
..expandTrident hand (HP:0004060) 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:0004100HP:0004100Abnormal 2nd finger morphology0 CL E G H
HP:0004100HP:0004100Abnormal 2nd finger morphology1 CL E G H
HP:0004100HP:0004100Abnormal 2nd finger morphology2 CL E G H
HP:0004100HP:0004100Abnormal 2nd finger morphology3 CL E G H
HP:0004100HP:0004100Abnormal 2nd finger morphology4 CL E G H


Genes (20) :BHLHA9 BMP2 BMPR1B COL2A1 FGFR2 FLNA GDF5 GPC3 GPC4 HOXA13 HOXD13 IHH INTU IRX5 MEIS2 MYCN OPA3 RUNX2 TGDS TWIST1

Diseases (23) :67036 112600 93384 304120 113100 373 140000 112500 611174 600987 616145 1388 609432 93396 616849 271700 615072 93409 617926 164280 119600 156510 101400
 

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