Human Phenotype Ontology 
Grandparent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
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Abnormality of limb bone (HP:0040068)help
Parent Node:
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Abnormal upper limb bone morphology (HP:0040070)help
Parent Node:
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Abnormality of limb bone morphology (HP:0002813)help
..Starting node
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Abnormal morphology of bones of the upper limbs (HP:0040065)help
Term ID: 40065
Name: Abnormal morphology of bones of the upper limbs
Synonym: Abnormal shape of bones of the upper limbs
Definition:
Comments:
Reference: HP:0040065
Genes and Diseases:
 
       Child Nodes:
........expandCortical thickening of the forearm bones (HP:0003957) help
........expandAbnormal metacarpal morphology (HP:0005916) help
................... HP:0001230 Broad metacarpals
................... HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones
................... HP:0006012 Widened metacarpal shaft
................... HP:0006042 Y-shaped metacarpals
................... HP:0006048 Distal widening of metacarpals
................... HP:0006086 Thin metacarpal cortices
................... HP:0006108 Tapered metacarpals
................... HP:0006119 Proximal tapering of metacarpals
................... HP:0006160 Irregular metacarpals
................... HP:0006166 Tubular metacarpal bones
................... HP:0006174 Metacarpal diaphyseal endosteal sclerosis
................... HP:0006232 Expanded metacarpals with widened medullary cavities
................... HP:0006236 Slender metacarpals
................... HP:0009701 Metacarpal synostosis
................... HP:0010493 Long metacarpals
................... HP:0011909 Flattened metacarpal heads
................... HP:0031809 Archibald's sign
........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
........expandForearm undergrowth (HP:0009821) help
................... HP:0002984 Hypoplasia of the radius
................... HP:0003022 Hypoplasia of the ulna
................... HP:0005773 Short forearm
........expandAbnormal humerus morphology (HP:0031095) help
................... HP:0003863 Angulated humerus
................... HP:0003864 Bifid humerus
................... HP:0003865 Bowed humerus
................... HP:0003866 Coarse humeral trabeculae
................... HP:0003870 Crumpled humerus
................... HP:0003871 Deformed humerus
................... HP:0003872 Humeral exostoses
................... HP:0003874 Humerus varus
................... HP:0003875 Humeral lytic defects
................... HP:0003877 Oval transradiancy of humerus
................... HP:0003879 Humeral pseudarthrosis
................... HP:0003882 Slender humerus
................... HP:0003883 Tapered humerus
................... HP:0003885 Undermodeled humerus
................... HP:0003886 Wide humerus
................... HP:0003887 Abnormality of the humeral heads
................... HP:0003926 Abnormality of the humeral diaphysis
................... HP:0006441 Lateral humeral condyle aplasia
................... HP:0010629 Abnormal morphology of the cortex of the humerus
........expandAbnormal forearm bone morphology (HP:0040073) help
................... HP:0003954 Angulated forearm bones
................... HP:0003956 Bowed forearm bones
................... HP:0003959 Deformed forearm bones
................... HP:0003961 Fractured forearm bones
................... HP:0003969 Slender forearm bones
................... HP:0003971 Broad forearm bones
................... HP:0006370 Distal ulnar epiphyseal stippling
................... HP:0040071 Abnormal morphology of ulna
................... HP:0045009 Abnormal morphology of the radius

 Sister Nodes: 
..expandAbnormal digit morphology (HP:0011297) help
..expandAbnormal morphology of bones of the lower limbs (HP:0040066) help
..expandAbnormality of limb epiphysis morphology (HP:0006505) help
..expandAbnormality of radial ray (HP:0410049) help
..expandAbnormality of the metaphysis (HP:0000944) help
..expandAbsent ray (HP:0030030) help
..expandAcromicria (HP:0031878) help
..expandAnomaly of the limb diaphyses (HP:0006504) help
..expandAplasia/hypoplasia involving bones of the extremities (HP:0045060) help
..expandEctrodactyly (HP:0100257) help
..expandLimb duplication (HP:0100524) help
..expandSubperiosteal bone resorption (HP:0003106) 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:0040065HP:0040065Abnormal morphology of bones of the upper limbs0 CL E G H
HP:0040065HP:0040065Abnormal morphology of bones of the upper limbs1 CL E G H
HP:0040065HP:0040065Abnormal morphology of bones of the upper limbs2 CL E G H
HP:0040065HP:0040065Abnormal morphology of bones of the upper limbs3 CL E G H
HP:0040065HP:0040065Abnormal morphology of bones of the upper limbs4 CL E G H


Genes (243) :ACAN ACVR1 ADAMTS10 ADAMTSL2 ALG12 AMMECR1 APC ATP7A ATR B2M B3GALT6 B3GAT3 B3GLCT BGN BHLHA9 BMP2 BMPR1B BPTF BRCA1 BRCA2 BRIP1 CANT1 CCDC8 CCNQ CD96 CHD7 CHN1 CHST3 CHSY1 COG4 COL10A1 COL11A1 COL11A2 COL25A1 COL2A1 COL9A3 COMP CPLANE1 CREBBP CUL7 CWC27 DACT1 DCHS1 DDR2 DHODH DONSON DVL1 DVL3 DYM DYNC2H1 EED EIF4A3 EP300 ERCC4 ESCO2 EXOSC2 EXT1 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBN1 FERMT1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB FZD2 G6PC3 GALNS GATA4 GDF5 GJA5 GJA8 GLB1 GLI3 GNAS GNAS-AS1 GNPTAB GPC3 GPC4 GPX4 GUSB HDAC4 HDAC8 HHAT HOXA11 HOXA13 HOXD13 IFIH1 IFT122 IFT52 IFT80 IFT81 IHH IMPAD1 INPPL1 INTU JAG1 KCNH1 KCNJ2 KIAA0753 KIF22 KIF7 KMT2A LBR LIG4 LMBR1 LMX1B LONP1 LRP4 LRP5 LTBP3 MAD2L2 MAFB MAP3K7 MED12 MEGF8 MEIS2 MMP13 MMP2 NEK1 NFIX NHS NIPBL NOG NPR2 NSD1 NSUN2 NXN OBSL1 OFD1 OTUD6B P3H1 PALB2 PCNT PCYT1A PDE3A PDE4D PDE6D PEX7 PHYH PIGS PIGT PLXND1 POC1A POR PORCN PRG4 PRKAR1A PRKD1 PRMT7 PSMD12 PTCH1 PTCH2 PTEN PTH1R PTHLH RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RBM10 RBM8A RECQL4 REV3L RFWD3 RLIM RMRP RNU4ATAC ROR2 RPL26 RPS19 RPS6KA3 RSPRY1 RUNX2 SALL1 SALL4 SATB2 SCARF2 SEMA3E SETBP1 SETD5 SF3B4 SHOX SIL1 SLC26A2 SLC39A13 SLX4 SMARCA2 SMC1A SMC3 SMO SMOC1 SNIP1 SPARC SRCAP SRY STX16 SUFU SUMF1 SUZ12 TAPT1 TBX3 TBX5 TCF12 TCTN3 TMEM216 TMEM67 TP63 TRIP11 TRPS1 TWIST1 TWIST2 UBE2T USP9X VAC14 VPS13B WDR19 WNT5A WNT7A XRCC2 XYLT1 ZBTB16 ZIC1 ZNF141

Diseases (293) :277600 166100 251230 608328 305620 314795 171866 612813 607143 300990 3258 198 241600 271640 300106 157801 261295 93388 609441 2098 529962 84 2616 140952 214800 233 143095 156500 1856 271700 180849 857 271665 263750 246 617604 180700 616331 616894 613091 3447 617561 268305 613684 3103 617763 321 277590 3412 608180 149730 3237 612961 93258 166250 101600 794 93259 87 93260 35099 1826 304120 503 272460 612541 251071 201250 200700 612474 380 672 175700 146510 174200 373 312870 253220 93406 186000 182250 617895 607778 112500 2746 118450 611816 93360 603546 235 212780 144750 305450 309520 65759 614976 600987 259600 2751 602535 122470 184460 602875 1507 505237 617452 950 615398 570 208250 617364 109 613390 311900 3320 274000 221016 218600 617784 300978 2636 210710 268310 113000 614900 105650 107480 959 607323 2307 147750 251019 600920 245 154400 249700 127300 240 56304 613951 3051 1553 601707 1106 614501 616507 2044 585 272200 181450 142900 392 605289 200600 300919 614378 2879 228930 276820 615777 612447 615226 210600 245600 261540 93384 211750 263463 605282 618150 154780 215150 609162 600969 750 132400 177170 2754 277170 250410 223800 607326 133700 133701 102370 969 101200 207410 311300 108720 108721 150250 253000 3250 228900 253010 79443 79444 103580 603233 612462 612463 252500 93317 250220 1001 1422 605432 93387 113300 113200 218330 617102 611263 614078 617926 170390 200500 161200 1458 600373 617137 602111 627 185800 610915 210720 608940 1276 112410 280651 614613 773 614813 201750 305600 101800 617157 50945 613382 615222 212720 250460 616651 93383 303600 192 616723 248800 226900 612350 601358 616897 602152 184260 77258 190350 190351 200110 216550 135100 231050 93396 617877 251450 601390 609053 615546 2908 2498 309630 3472 93328 164745 968 63442 113100 199 2438 140000 93409 186300 169400 611377 186570 618143 109400 119600 156510 798 269150 206920 1772
 

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