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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Long fingers (HP:0100807)help
Term ID: 100807
Name: Long fingers
Synonym: Long fingers
Definition: The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Comments:
Reference: HP:0100807
Genes and Diseases:
 
       Child Nodes:
........expandArachnodactyly (HP:0001166) help
........expandTapered finger (HP:0001182) help

 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
..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
..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:0100807HP:0100807Long fingers0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0100807HP:0100807Long fingers0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0100807HP:0100807Long fingers0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0100807HP:0100807Long fingers0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0100807HP:0100807Long fingers0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA127114723754300017
HP:0100807HP:0100807Long fingers0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0100807HP:0100807Long fingers0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA113646859602614
HP:0100807HP:0100807Long fingers0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0100807HP:0100807Long fingers0PLAA CL E G H9373521426ORPHA13849043603873
HP:0100807HP:0100807Long fingers0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0100807HP:0100807Long fingers0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0100807HP:0100807Long fingers0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0100807HP:0100807Long fingers0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0100807HP:0100807Long fingers0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0100807HP:0100807Long fingers0TBX4 CL E G H9496261279ORPHA15913511603601719
HP:0100807HP:0100807Long fingers0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0100807HP:0100807Long fingers0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0100807HP:0100807Long fingers0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0100807HP:0100807Long fingers0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0100807HP:0100807Long fingers1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0100807HP:0100807Long fingers1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0100807HP:0100807Long fingers1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0100807HP:0100807Long fingers1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0100807HP:0100807Long fingers1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA127114723754300017
HP:0100807HP:0100807Long fingers1GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0100807HP:0100807Long fingers1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA113646859602614
HP:0100807HP:0100807Long fingers1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0100807HP:0100807Long fingers1PLAA CL E G H9373521426ORPHA13849043603873
HP:0100807HP:0100807Long fingers1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0100807HP:0100807Long fingers1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0100807HP:0100807Long fingers1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0100807HP:0100807Long fingers1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0100807HP:0100807Long fingers1TBR1 CL E G H107161617ORPHA1187811590604616
HP:0100807HP:0100807Long fingers1TBX4 CL E G H9496261279ORPHA15913511603601719
HP:0100807HP:0100807Long fingers1TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0100807HP:0100807Long fingers1TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0100807HP:0100807Long fingers1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0100807HP:0100807Long fingers1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100807HP:0100807Long fingers0BIN1 CL E G H274169186ORPHA0173151052601248
HP:0100807HP:0100807Long fingers0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM076512151350
HP:0100807HP:0100807Long fingers0PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0100807HP:0100807Long fingers0RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0100807HP:0100807Long fingers0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM02914611201604975
HP:0100807HP:0100807Long fingers0SPEG CL E G H10290169186ORPHA01319816901615950
HP:0100807HP:0100807Long fingers0TTN CL E G H7273169186ORPHA03461438512403188840
HP:0100807HP:0100807Long fingers0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130
HP:0100807HP:0100807Long fingers1BIN1 CL E G H274169186ORPHA0173151052601248
HP:0100807HP:0100807Long fingers1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM076512151350
HP:0100807HP:0100807Long fingers1PUF60 CL E G H22827508488ORPHA03212917042604819
HP:0100807HP:0100807Long fingers1RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0100807HP:0100807Long fingers1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM02914611201604975
HP:0100807HP:0100807Long fingers1SPEG CL E G H10290169186ORPHA01319816901615950
HP:0100807HP:0100807Long fingers1TTN CL E G H7273169186ORPHA03461438512403188840
HP:0100807HP:0100807Long fingers1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130


Genes (190) :ABCC9 ABL1 ACSL4 ACTA2 ACTG2 ADAMTSL1 AIP ALG3 AMER1 AMMECR1 ARVCF ARX ASXL1 ATRX B3GALT6 B4GALT7 BCR BIN1 BMP1 BMP15 BRF1 C1R CBS CDC42 CDKL5 CHD4 CHRNG CHST14 CNTN1 COL11A1 COL1A1 COL2A1 COL5A1 COL5A2 COMT CPT2 CRKL CRLF1 CTSC CYP26B1 DLX5 DSE EBP ECE1 EED EFEMP2 EIF2S3 ELN FBLN5 FBN1 FBN2 FBXO11 FGFR2 FGFR3 FIG4 FLNA FOXE3 FSHR GATA2 GATA4 GATAD2B GJA1 GJB3 GJB4 GP1BB GPR101 HDAC8 HERC1 HIRA HIVEP2 HUWE1 INPPL1 IRX5 JMJD1C KANSL1 KCNE5 KDM1A KDM5C KDSR KIF1A KIF1BP KIF7 KMT2A LARS LAS1L LETM1 LOX MAF MAGEL2 MAP3K7 MAPK1 MAPRE2 MAT2A MED12 MFAP5 MRPS22 MTM1 MYH11 MYLK MYMK NELFA NFIX NPR2 NR2F1 NR5A1 NSD2 NUP107 OFD1 OSGEP OTUD6B PAX1 PEPD PHF6 PHIP PIEZO2 PIGN PIGV PLAA PLOD1 POLR3A POR PQBP1 PRDM5 PRKG1 PSMB8 PSMC3IP PTCH1 PTCH2 PUF60 PUM1 PYCR2 RAB11B RETREG1 RPL10 RPS6KA3 RREB1 RUNX2 RUSC2 RYR1 SATB2 SCARF2 SCN9A SEC24C SH2B1 SIM1 SIN3A SKI SLC12A6 SLC25A46 SLC2A10 SLC39A13 SMAD3 SMARCAD1 SMARCE1 SMC1A SMS SNIP1 SON SOX5 SPEG SPIDR STUB1 SUFU TBR1 TBX1 TBX4 TCF4 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM94 TRAPPC9 TRIO TTN TUBB TWIST1 UBE3B UFD1 UNC80 UPF3B USP9X VAC14 VPS13B WNK1 XYLT2 YY1 ZDHHC9 ZNF469 ZNHIT3

Diseases (180) :601110 169186 604841 300960 617561 1826 615074 615438 614753 521426 617527 264090 256040 508488 309583 616803 1617 261279 618316 156610 617746 605822 617557 965 617602 86818 91387 2604 521445 963 300373 567 300004 605039 301040 309580 75496 130070 261330 614856 243 616202 130080 394 236200 616737 300672 617159 265000 601776 612540 287 108300 608836 272430 678 245010 614416 220600 615539 613870 90349 614437 85282 219100 2462 284979 616914 154700 115 121050 618089 83 207410 610474 3472 216340 305620 614038 251071 317 3459 617011 616977 85328 300706 2746 611174 610443 616728 85279 2836 970 609460 200990 319182 605130 309585 280 601088 615547 616734 776 309520 616166 310400 254940 615923 615722 616730 300209 617729 505237 617452 615560 742 127 301900 617991 2461 617146 1154 248700 108145 280633 239300 225400 95699 201750 93946 90354 2615 377 617931 616420 617807 435938 300998 276630 303600 192 1452 617773 251019 612313 600920 261222 171829 613406 182212 218000 616505 3342 208050 157965 612350 284984 613795 129200 616938 614501 500150 412057 2896 610954 614816 615582 60030 609192 610168 352530 617061 2707 616801 300676 300968 193 216550 300799 260565
 

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