Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of long bone morphology (HP:0011314)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
Parent Node:
expand
Broad long bones (HP:0005622)help
..Starting node
..expand
Broad phalanx (HP:0006009)help
Term ID: 6009
Name: Broad phalanx
Synonym: Broad phalanges; Wide digital bones; Wide phalanges; Widened phalanges
Definition: Increased side-to-side width of one or more phalanges of the fingers or toes.
Comments:
Reference: HP:0006009
Genes and Diseases:
 
       Child Nodes:
........expandWidened distal phalanges (HP:0006200) help
................... HP:0006095 Wide tufts of distal phalanges
........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
........expandBroad phalanx of the toes (HP:0010174) help
................... HP:0010059 Broad hallux phalanx
................... HP:0010186 Broad distal phalanx of the toes
................... HP:0010195 Broad middle phalanges of the toes
................... HP:0010204 Broad proximal phalanx of toe
................... HP:0010348 Broad phalanges of the 2nd toe
................... HP:0010360 Broad phalanges of the 3rd toe
................... HP:0010372 Broad phalanges of the 4th toe
................... HP:0010384 Broad phalanges of the 5th toe

 Sister Nodes: 
..expandBroad radius (HP:0003981) help
..expandBroad ulna (HP:0003993) help
..expandIncreased fibular diameter (HP:0012107) help
..expandWide humerus (HP:0003886) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006009HP:0006009Broad phalanx0BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0006009HP:0006009Broad phalanx0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0006009HP:0006009Broad phalanx0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0006009HP:0006009Broad phalanx0NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0006009HP:0006009Broad phalanx0RAB33B CL E G H83452615222Smith-McCort dysplasia 2615222C3714896OMIM1711116075605950
HP:0006009HP:0006009Broad phalanx0SLC26A2 CL E G H183656304ORPHA15531810994606718
HP:0006009HP:0006009Broad phalanx1BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0006009HP:0006009Broad phalanx1DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0006009HP:0006009Broad phalanx1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0006009HP:0006009Broad phalanx1NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0006009HP:0006009Broad phalanx1RAB33B CL E G H83452615222Smith-McCort dysplasia 2615222C3714896OMIM1711116075605950
HP:0006009HP:0006009Broad phalanx1SLC26A2 CL E G H183656304ORPHA15531810994606718
HP:0006009HP:0006009Broad phalanx2BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0006009HP:0006009Broad phalanx2DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0006009HP:0006009Broad phalanx2FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0006009HP:0006009Broad phalanx2NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0006009HP:0006009Broad phalanx2RAB33B CL E G H83452615222Smith-McCort dysplasia 2615222C3714896OMIM1711116075605950
HP:0006009HP:0006009Broad phalanx2SLC26A2 CL E G H183656304ORPHA15531810994606718
HP:0006009HP:0006009Broad phalanx3BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0006009HP:0006009Broad phalanx3DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0006009HP:0006009Broad phalanx3FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0006009HP:0006009Broad phalanx3NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM1762227944108961
HP:0006009HP:0006009Broad phalanx3RAB33B CL E G H83452615222Smith-McCort dysplasia 2615222C3714896OMIM1711116075605950
HP:0006009HP:0006009Broad phalanx3SLC26A2 CL E G H183656304ORPHA15531810994606718
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (84) :ABCC9 ACAN ADAMTS10 AMMECR1 B3GALT6 B3GAT3 BGN BMP2 BPTF CHST3 COL10A1 COL11A1 COL2A1 CREBBP DACT1 DDR2 DVL1 DVL3 EED EFNB1 EP300 EXOSC2 EZH2 FBN1 FGF9 FGFR1 FGFR2 FGFR3 FLI1 FLNA FLNB G6PC3 GATA4 GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 HOXD13 IFIH1 IFT122 INPPL1 KCNH1 KCNJ8 KIF22 LIG4 MED12 MEGF8 MEIS2 NOG NPR2 NSD1 NSUN2 NXN OTUD6B PRKD1 PSMD12 PTEN RAB23 RAB33B RBM8A RLIM RNU4ATAC ROR2 SALL1 SALL4 SATB2 SLC26A2 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TWIST1 USP9X WDR19 WNT5A XYLT1 ZNF141

Diseases (100) :300106 271665 166250 602875 615222 56304 277600 608328 305620 108721 614378 1517 171866 612813 300990 271640 261295 529962 156500 154780 271700 180849 857 180700 616331 616894 3447 617561 1520 613684 617763 277590 3237 612961 93258 101600 794 93259 93260 168624 87 1540 2308 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 93383 268310 113000 107480 959 251019 3051 1553 601707 1106 614501 2044 585 272200 392 300919 615777 615226 245600 101200 311300 150250 79444 79443 113200 218330
 

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