Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the foot (HP:0001760)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)help
Parent Node:
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Aplasia/Hypoplasia involving bones of the feet (HP:0006494)help
..Starting node
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Short foot (HP:0001773)help
Term ID: 1773
Name: Short foot
Synonym: Hypoplastic feet; Short feet; Short foot; Small feet
Definition: A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Comments:
Reference: HP:0001773
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent foot (HP:0011301) help
..expandAplasia/Hypoplasia of metatarsal bones (HP:0001964) help
..expandAplasia/Hypoplasia of the phalanges of the toes (HP:0010173) help
..expandAplasia/Hypoplasia of the tarsal bones (HP:0008363) help
..expandAplasia/Hypoplasia of toe (HP:0001991) help
..expandLower limb peromelia (HP:0009820) help
..expandPartial absence of foot (HP:0030032) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001773HP:0001773Short foot0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0001773HP:0001773Short foot0B3GALT6 CL E G H12679293359ORPHA14023217978615291
HP:0001773HP:0001773Short foot0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0001773HP:0001773Short foot0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001773HP:0001773Short foot0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001773HP:0001773Short foot0BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0001773HP:0001773Short foot0BMP2 CL E G H65093396ORPHA137691069112261
HP:0001773HP:0001773Short foot0BMPR1B CL E G H65893388ORPHA1241951077603248
HP:0001773HP:0001773Short foot0BMPR1B CL E G H65893396ORPHA1241951077603248
HP:0001773HP:0001773Short foot0BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0001773HP:0001773Short foot0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0001773HP:0001773Short foot0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0001773HP:0001773Short foot0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0001773HP:0001773Short foot0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0001773HP:0001773Short foot0CEP120 CL E G H153241474ORPHA198726690613446
HP:0001773HP:0001773Short foot0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0001773HP:0001773Short foot0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0001773HP:0001773Short foot0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0001773HP:0001773Short foot0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0001773HP:0001773Short foot0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA164516472201120180
HP:0001773HP:0001773Short foot0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0001773HP:0001773Short foot0COMP CL E G H1311750ORPHA11881862227600310
HP:0001773HP:0001773Short foot0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0001773HP:0001773Short foot0DYNC2H1 CL E G H7965993271ORPHA12078892962603297
HP:0001773HP:0001773Short foot0DYNC2H1 CL E G H79659474ORPHA12078892962603297
HP:0001773HP:0001773Short foot0DYNC2LI1 CL E G H51626474ORPHA11417324595617083
HP:0001773HP:0001773Short foot0FBN1 CL E G H2200102370Acromicric dysplasia102370C0265287OMIM1272142843603134797
HP:0001773HP:0001773Short foot0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0001773HP:0001773Short foot0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0001773HP:0001773Short foot0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0001773HP:0001773Short foot0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001773HP:0001773Short foot0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0001773HP:0001773Short foot0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0001773HP:0001773Short foot0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0001773HP:0001773Short foot0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0001773HP:0001773Short foot0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0001773HP:0001773Short foot0FGFR3 CL E G H226153271ORPHA1774313690134934
HP:0001773HP:0001773Short foot0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0001773HP:0001773Short foot0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM182094507607340
HP:0001773HP:0001773Short foot0GABRD CL E G H25631606ORPHA172784084137163
HP:0001773HP:0001773Short foot0GDF5 CL E G H820093388ORPHA159984220601146
HP:0001773HP:0001773Short foot0GDF5 CL E G H820093396ORPHA159984220601146
HP:0001773HP:0001773Short foot0GDF5 CL E G H8200201250Acromesomelic dysplasia Hunter Thompson type201250C2930970OMIM159984220601146
HP:0001773HP:0001773Short foot0GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0001773HP:0001773Short foot0GDF5 CL E G H8200200700Grebe syndrome200700C0265260OMIM159984220601146
HP:0001773HP:0001773Short foot0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0001773HP:0001773Short foot0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0001773HP:0001773Short foot0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001773HP:0001773Short foot0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0001773HP:0001773Short foot0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001773HP:0001773Short foot0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0001773HP:0001773Short foot0HDAC6 CL E G H10013163966ORPHA1319614064300272
HP:0001773HP:0001773Short foot0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0001773HP:0001773Short foot0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0001773HP:0001773Short foot0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0001773HP:0001773Short foot0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181274851613004
HP:0001773HP:0001773Short foot0IFT140 CL E G H9742474ORPHA17253029077614620
HP:0001773HP:0001773Short foot0IFT172 CL E G H26160474ORPHA12726930391607386
HP:0001773HP:0001773Short foot0IFT80 CL E G H57560474ORPHA11321129262611177
HP:0001773HP:0001773Short foot0IFT80 CL E G H5756093271ORPHA11321129262611177
HP:0001773HP:0001773Short foot0IFT80 CL E G H57560611263Asphyxiating thoracic dystrophy 2611263C1970005OMIM11321129262611177
HP:0001773HP:0001773Short foot0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0001773HP:0001773Short foot0IHH CL E G H354993388ORPHA1331155956600726
HP:0001773HP:0001773Short foot0IMPAD1 CL E G H54928614078Chondrodysplasia with joint dislocations, GPAPP type614078C3279757OMIM1526019614010
HP:0001773HP:0001773Short foot0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132636080600829
HP:0001773HP:0001773Short foot0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0001773HP:0001773Short foot0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0001773HP:0001773Short foot0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0001773HP:0001773Short foot0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0001773HP:0001773Short foot0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0001773HP:0001773Short foot0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0001773HP:0001773Short foot0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001773HP:0001773Short foot0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0001773HP:0001773Short foot0LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0001773HP:0001773Short foot0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0001773HP:0001773Short foot0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001773HP:0001773Short foot0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0001773HP:0001773Short foot0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0001773HP:0001773Short foot0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0001773HP:0001773Short foot0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001773HP:0001773Short foot0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0001773HP:0001773Short foot0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0001773HP:0001773Short foot0NOG CL E G H9241140908ORPHA164477866602991
HP:0001773HP:0001773Short foot0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0001773HP:0001773Short foot0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0001773HP:0001773Short foot0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0001773HP:0001773Short foot0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0001773HP:0001773Short foot0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA1344168967606097
HP:0001773HP:0001773Short foot0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0001773HP:0001773Short foot0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0001773HP:0001773Short foot0PTH1R CL E G H574579106ORPHA1451009608168468
HP:0001773HP:0001773Short foot0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0001773HP:0001773Short foot0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0001773HP:0001773Short foot0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0001773HP:0001773Short foot0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0001773HP:0001773Short foot0RERE CL E G H4731606ORPHA1251619965605226
HP:0001773HP:0001773Short foot0ROR2 CL E G H492093383ORPHA14025810257602337
HP:0001773HP:0001773Short foot0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0001773HP:0001773Short foot0SHOX CL E G H6473314795ORPHA143322510853312865
HP:0001773HP:0001773Short foot0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0001773HP:0001773Short foot0SKI CL E G H64971606ORPHA12450210896164780
HP:0001773HP:0001773Short foot0SLC26A2 CL E G H183693298ORPHA15531810994606718
HP:0001773HP:0001773Short foot0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0001773HP:0001773Short foot0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0001773HP:0001773Short foot0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0001773HP:0001773Short foot0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM1282132468606062
HP:0001773HP:0001773Short foot0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0001773HP:0001773Short foot0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0001773HP:0001773Short foot0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0001773HP:0001773Short foot0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0001773HP:0001773Short foot0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0001773HP:0001773Short foot0TBCE CL E G H690593324ORPHA1816111582604934
HP:0001773HP:0001773Short foot0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0001773HP:0001773Short foot0TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0001773HP:0001773Short foot0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1816111582604934
HP:0001773HP:0001773Short foot0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0001773HP:0001773Short foot0TRIP11 CL E G H932193299ORPHA11731512305604505
HP:0001773HP:0001773Short foot0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM114222112340604386
HP:0001773HP:0001773Short foot0TTC21B CL E G H79809474ORPHA16333425660612014
HP:0001773HP:0001773Short foot0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0001773HP:0001773Short foot0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0001773HP:0001773Short foot0WDR19 CL E G H57728474ORPHA14529418340608151
HP:0001773HP:0001773Short foot0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14529418340608151
HP:0001773HP:0001773Short foot0WDR34 CL E G H8989193271ORPHA12128296613363
HP:0001773HP:0001773Short foot0WDR34 CL E G H89891474ORPHA12128296613363
HP:0001773HP:0001773Short foot0WDR35 CL E G H5753993271ORPHA13129229250613602
HP:0001773HP:0001773Short foot0WDR60 CL E G H55112474ORPHA11321862615462
HP:0001773HP:0001773Short foot0WDR60 CL E G H5511293271ORPHA11321862615462
HP:0001773HP:0001773Short foot0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0001773HP:0001773Short foot0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0001773HP:0001773Short foot0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001773HP:0001773Short foot0ASXL1 CL E G H17102397297ORPHA04119918318612990
HP:0001773HP:0001773Short foot0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0001773HP:0001773Short foot0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM04843413601605654
HP:0001773HP:0001773Short foot0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM05622713315300269
HP:0001773HP:0001773Short foot0KLHL7 CL E G H5597597297ORPHA01412715646611119
HP:0001773HP:0001773Short foot0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0001773HP:0001773Short foot0SIM1 CL E G H6492171829ORPHA05311610882603128
HP:0001773HP:0001773Short foot0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM0716320197605881
HP:0001773HP:0001773Short foot0TUBB3 CL E G H10381300570ORPHA02615520772602661


Genes (110) :ADAMTSL2 ASXL1 B3GALT6 B3GLCT BBS1 BGN BMP2 BMPR1B CCBE1 CCDC47 CDKL5 CENPE CEP120 COG1 COL11A1 COL2A1 COL3A1 COL4A3BP COMP CUL4B DYNC2H1 DYNC2LI1 FBN1 FBXL4 FBXO11 FGD1 FGFR1 FGFR2 FGFR3 FMR1 GABBR2 GABRD GDF5 GJA1 GPC3 GPC4 HDAC4 HDAC6 HDAC8 HERC2 HTT IFT140 IFT172 IFT80 IGF1R IHH IMPAD1 INPPL1 IPW KCNAB2 KCNJ2 KDM5C KLHL7 KMT2A LAS1L LIG4 LMBR1 MAGEL2 MAP3K7 MASP1 MBD5 MECP2 MKRN3 MKRN3-AS1 NDN NGLY1 NIPBL NOG NPAP1 NSUN2 PIGL PIGN PPM1D PRDM16 PTH1R PWAR1 PWRN1 RAD21 RECQL4 RERE ROR2 SETD5 SHOX SHROOM4 SIM1 SKI SLC26A2 SLC35C1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SPART TBCE TBL1XR1 TRIP11 TRPS1 TTC21B TUBB3 UBE2A USP9X WDR19 WDR34 WDR35 WDR60 WDR81 WNT7A ZDHHC15

Diseases (97) :231050 97297 93359 709 261540 209900 300106 93396 93388 2098 235510 618268 300672 616051 474 611209 228520 85166 271700 2500 616351 750 85293 300354 93271 102370 614185 615471 618089 915 305400 93258 166250 93260 93259 53271 261483 617903 1606 201250 200700 257850 373 312870 1001 163966 3459 199 300882 176270 617435 611263 270450 614078 258480 170390 300534 309585 235 135750 615547 157800 257920 156200 312750 615273 140908 186500 3474 280633 617450 79106 268400 93383 314795 300434 171829 93298 266265 300590 610759 617140 275900 93324 241410 244460 2323 602342 93299 190351 300570 300860 300968 614376 610185 276820 300577
 

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