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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Broad finger (HP:0001500)help
Term ID: 1500
Name: Broad finger
Synonym: Broad finger; Broad fingers; Wide fingers
Definition: Increased width of a non-thumb digit of the hand.
Comments:
Reference: HP:0001500
Genes and Diseases:
 
       Child Nodes:
........expandBroad phalanges of the hand (HP:0009768) help
................... HP:0006112 Expanded phalanges with widened medullary cavities
................... HP:0009374 Broad phalanges of the 5th finger
................... HP:0009404 Broad phalanges of the 4th finger
................... HP:0009440 Broad phalanges of the 3rd finger
................... HP:0009547 Broad phalanges of the 2nd finger
................... HP:0009836 Broad distal phalanx of finger
................... HP:0009844 Broad middle phalanx of finger
................... HP:0009852 Broad proximal phalanges of the hand
................... HP:0011304 Broad thumb

 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
..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:
HP:0001500HP:0001500Broad finger0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0001500HP:0001500Broad finger0NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0001500HP:0001500Broad finger0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0001500HP:0001500Broad finger1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0001500HP:0001500Broad finger1NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0001500HP:0001500Broad finger1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0001500HP:0001500Broad finger2NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0001500HP:0001500Broad finger2NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0001500HP:0001500Broad finger2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0001500HP:0001500Broad finger3NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0001500HP:0001500Broad finger3NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0001500HP:0001500Broad finger3RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (76) :ACAN ADAMTS10 AMMECR1 B3GALT6 B3GAT3 BMP2 BPTF CHST3 COL10A1 COL2A1 CREBBP DACT1 DVL1 DVL3 EED EP300 EXOSC2 EZH2 FBN1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 HOXD13 IFIH1 IFT122 INPPL1 KCNH1 KIF22 LIG4 MED12 MEGF8 MEIS2 NHS NOG NPR2 NSD1 NSUN2 NXN OTUD6B PRKD1 PSMD12 PTEN RAB23 RBM8A RLIM RNU4ATAC ROR2 RPS6KA3 SALL1 SATB2 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TWIST1 USP9X WDR19 WNT5A XYLT1 ZNF141

Diseases (88) :302350 602875 192 277600 608328 305620 171866 612813 300990 271640 261295 529962 156500 271700 180849 857 180700 616331 616894 3447 617561 613684 617763 277590 3237 612961 93258 101600 87 93260 794 93259 304120 503 612541 251071 612474 380 672 175700 174200 373 312870 182250 2746 611816 603546 235 305450 309520 65759 614976 600987 184460 1507 505237 617452 617364 109 3320 274000 300978 2636 268310 113000 107480 251019 3051 1553 601707 1106 614501 2044 585 272200 392 300919 614378 615777 615226 245600 101200 311300 150250 79443 79444 113200 218330
 

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