Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Broad long bones (HP:0005622)help
Parent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Broad finger (HP:0001500)help
Parent Node:
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Broad phalanx (HP:0006009)help
..Starting node
..expand
Broad phalanges of the hand (HP:0009768)help
Term ID: 9768
Name: Broad phalanges of the hand
Synonym: Wide hand bones; Widening of phalanges of the hand
Definition: Increased width of the phalanges of the hand.
Comments:
Reference: HP:0009768
Genes and Diseases:
 
       Child Nodes:
........expandExpanded phalanges with widened medullary cavities (HP:0006112) help
........expandBroad phalanges of the 5th finger (HP:0009374) help
................... HP:0009169 Broad middle phalanx of the 5th finger
................... HP:0009227 Broad proximal phalanx of the 5th finger
................... HP:0009240 Broad distal phalanx of the 5th finger
........expandBroad phalanges of the 4th finger (HP:0009404) help
................... HP:0009292 Broad distal phalanx of the 4th finger
................... HP:0009293 Broad middle phalanx of the 4th finger
................... HP:0009310 Broad proximal phalanx of the 4th finger
........expandBroad phalanges of the 3rd finger (HP:0009440) help
................... HP:0009422 Broad distal phalanx of the 3rd finger
................... HP:0009430 Broad middle phalanx of the 3rd finger
................... HP:0009450 Broad proximal phalanx of the 3rd 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
........expandBroad distal phalanx of finger (HP:0009836) help
................... HP:0009240 Broad distal phalanx of the 5th finger
................... HP:0009292 Broad distal phalanx of the 4th finger
................... HP:0009422 Broad distal phalanx of the 3rd finger
................... HP:0009558 Broad distal phalanx of the 2nd finger
................... HP:0009642 Broad distal phalanx of the thumb
................... HP:0009880 Broad distal phalanges of all fingers
........expandBroad middle phalanx of finger (HP:0009844) help
................... HP:0009169 Broad middle phalanx of the 5th finger
................... HP:0009293 Broad middle phalanx of the 4th finger
................... HP:0009430 Broad middle phalanx of the 3rd finger
................... HP:0009569 Broad middle phalanx of the 2nd finger
................... HP:0009630 Broad proximal phalanx of the thumb
........expandBroad proximal phalanges of the hand (HP:0009852) help
................... HP:0009227 Broad proximal phalanx of the 5th finger
................... HP:0009310 Broad proximal phalanx of the 4th finger
................... HP:0009450 Broad proximal phalanx of the 3rd finger
................... HP:0009581 Broad proximal phalanx of the 2nd finger
................... HP:0009630 Broad proximal phalanx of the thumb
................... HP:0010027 Broad 1st metacarpal
........expandBroad thumb (HP:0011304) help
................... HP:0001222 Spatulate thumbs
................... HP:0009630 Broad proximal phalanx of the thumb
................... HP:0009642 Broad distal phalanx of the thumb

 Sister Nodes: 
..expandBroad phalanx of the toes (HP:0010174) help
..expandWidened distal phalanges (HP:0006200) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009768HP:0009768Broad phalanges of the hand0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0009768HP:0009768Broad phalanges of the hand0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0009768HP:0009768Broad phalanges of the hand0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0009768HP:0009768Broad phalanges of the hand1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0009768HP:0009768Broad phalanges of the hand1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0009768HP:0009768Broad phalanges of the hand1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0009768HP:0009768Broad phalanges of the hand2ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0009768HP:0009768Broad phalanges of the hand2FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0009768HP:0009768Broad phalanges of the hand2FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (73) :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 NOG NSD1 NSUN2 NXN OTUD6B PRKD1 PSMD12 PTEN RAB23 RBM8A RLIM RNU4ATAC ROR2 SALL1 SATB2 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TWIST1 USP9X WDR19 WNT5A XYLT1 ZNF141

Diseases (85) :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 794 87 93260 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.