Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
..Starting node
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Small hand (HP:0200055)help
Term ID: 200055
Name: Small hand
Synonym: Disproportionately small hands; Small hand; Small hands
Definition: Disproportionately small hand.
Comments:
Reference: HP:0200055
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent hand (HP:0004050) help
..expandAplasia/Hypoplasia involving the carpal bones (HP:0006502) help
..expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandShort palm (HP:0004279) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0200055HP:0200055Small hand0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0200055HP:0200055Small hand0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0200055HP:0200055Small hand0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12816619721613165
HP:0200055HP:0200055Small hand0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0200055HP:0200055Small hand0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0200055HP:0200055Small hand0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0200055HP:0200055Small hand0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0200055HP:0200055Small hand0COG4 CL E G H2583985172ORPHA1614118620606976
HP:0200055HP:0200055Small hand0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0200055HP:0200055Small hand0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA164516472201120180
HP:0200055HP:0200055Small hand0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0200055HP:0200055Small hand0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0200055HP:0200055Small hand0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0200055HP:0200055Small hand0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0200055HP:0200055Small hand0EVC CL E G H2121952Bowing congenital short bonesORPHA1846523497604831
HP:0200055HP:0200055Small hand0EVC2 CL E G H132884952Bowing congenital short bonesORPHA17656719747607261
HP:0200055HP:0200055Small hand0FBN1 CL E G H2200969Brachydactyly mesomelia mental retardation heart defectsORPHA1272142843603134797
HP:0200055HP:0200055Small hand0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0200055HP:0200055Small hand0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0200055HP:0200055Small hand0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0200055HP:0200055Small hand0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0200055HP:0200055Small hand0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0200055HP:0200055Small hand0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM182094507607340
HP:0200055HP:0200055Small hand0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0200055HP:0200055Small hand0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0200055HP:0200055Small hand0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0200055HP:0200055Small hand0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0200055HP:0200055Small hand0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0200055HP:0200055Small hand0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181274851613004
HP:0200055HP:0200055Small hand0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0200055HP:0200055Small hand0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0200055HP:0200055Small hand0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0200055HP:0200055Small hand0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0200055HP:0200055Small hand0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0200055HP:0200055Small hand0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0200055HP:0200055Small hand0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0200055HP:0200055Small hand0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0200055HP:0200055Small hand0LTBP3 CL E G H4054969Brachydactyly mesomelia mental retardation heart defectsORPHA113926716602090
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0200055HP:0200055Small hand0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0200055HP:0200055Small hand0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0200055HP:0200055Small hand0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0200055HP:0200055Small hand0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0200055HP:0200055Small hand0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0200055HP:0200055Small hand0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM12323417646610661
HP:0200055HP:0200055Small hand0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0200055HP:0200055Small hand0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0200055HP:0200055Small hand0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0200055HP:0200055Small hand0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0200055HP:0200055Small hand0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA1344168967606097
HP:0200055HP:0200055Small hand0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0200055HP:0200055Small hand0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0200055HP:0200055Small hand0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0200055HP:0200055Small hand0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0200055HP:0200055Small hand0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0200055HP:0200055Small hand0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0200055HP:0200055Small hand0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0200055HP:0200055Small hand0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1817410736609297
HP:0200055HP:0200055Small hand0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0200055HP:0200055Small hand0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0200055HP:0200055Small hand0SLC26A2 CL E G H183693307ORPHA15531810994606718
HP:0200055HP:0200055Small hand0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM134031399610299
HP:0200055HP:0200055Small hand0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0200055HP:0200055Small hand0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0200055HP:0200055Small hand0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0200055HP:0200055Small hand0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0200055HP:0200055Small hand0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0200055HP:0200055Small hand0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0200055HP:0200055Small hand0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0200055HP:0200055Small hand0TBCE CL E G H690593324ORPHA1816111582604934
HP:0200055HP:0200055Small hand0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0200055HP:0200055Small hand0TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0200055HP:0200055Small hand0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1816111582604934
HP:0200055HP:0200055Small hand0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0200055HP:0200055Small hand0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0200055HP:0200055Small hand0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0200055HP:0200055Small hand0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0200055HP:0200055Small hand0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1115137512791604611
HP:0200055HP:0200055Small hand0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12316715516608124
HP:0200055HP:0200055Small hand0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200055HP:0200055Small hand0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0200055HP:0200055Small hand0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM0192443084601365
HP:0200055HP:0200055Small hand0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM015773087601368
HP:0200055HP:0200055Small hand0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM07714532961600112
HP:0200055HP:0200055Small hand0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM05622713315300269
HP:0200055HP:0200055Small hand0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0181455154601688
HP:0200055HP:0200055Small hand0KDM6A CL E G H74032322ORPHA08131112637300128
HP:0200055HP:0200055Small hand0KMT2D CL E G H80852322ORPHA071213507133602113
HP:0200055HP:0200055Small hand0RAP1A CL E G H59062322ORPHA02209855179520
HP:0200055HP:0200055Small hand0RAP1B CL E G H59082322ORPHA01199857179530
HP:0200055HP:0200055Small hand0RMRP CL E G H6023175ORPHA012341110031157660
HP:0200055HP:0200055Small hand0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM04025810257602337
HP:0200055HP:0200055Small hand0SIN3A CL E G H2594294065ORPHA01611619353607776
HP:0200055HP:0200055Small hand0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA0766510955601460
HP:0200055HP:0200055Small hand0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0200055HP:0200055Small hand0TUBB3 CL E G H10381300570ORPHA02615520772602661
HP:0200055HP:0200055Small hand0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM0115812784164975


Genes (87) :ADNP BPTF CANT1 CCBE1 CDK10 CDKL5 CENPE COG1 COG4 COL11A1 COL3A1 CTNND2 CUL4B DPM1 DVL1 DVL3 DYNC1H1 EVC EVC2 FBN1 FBXO11 FGD1 FGFR2 FMR1 GABBR2 GJA1 HDAC4 HDAC8 HERC2 HPGD HTT IGF1R IPW KCNJ2 KDM6A KIF1BP KMT2A KMT2D LAS1L LIG4 LTBP3 MAGEL2 MBD5 MCTP2 MKRN3 MKRN3-AS1 NDN NGLY1 NIPBL NPAP1 NSUN2 ORC1 PIGN POC1A PPM1D PUM1 PWAR1 PWRN1 RAD21 RAP1A RAP1B RECQL4 RMRP ROR2 SEMA5A SETD5 SHROOM4 SIN3A SLC26A2 SLC6A17 SLCO2A1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON TBCE TCF4 TRPV4 TUBB3 USP9X WDR81 WNT5A WRN XYLT1 ZDHHC15

Diseases (69) :615873 617755 1425 235510 617694 300672 616051 611209 85172 228520 2500 281 85293 300354 608799 180700 614563 952 969 618089 915 93260 93259 261483 617903 257850 1001 3459 199 300882 176270 2796 617435 270450 170390 2322 609460 309585 235 615547 156200 1596 615273 224690 280633 614813 617450 617931 268400 175 268310 300434 94065 93307 616269 300590 610759 617140 93324 241410 244460 2323 2896 181405 300570 300968 610185 902 300577
 

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