Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (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
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001773HP:0001773Short foot0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001773HP:0001773Short foot0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001773HP:0001773Short foot0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0001773HP:0001773Short foot0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0001773HP:0001773Short foot0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001773HP:0001773Short foot0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0001773HP:0001773Short foot0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent13
HP:0001773HP:0001773Short foot0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent90
HP:0001773HP:0001773Short foot0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent90
HP:0001773HP:0001773Short foot0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent90
HP:0001773HP:0001773Short foot0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0001773HP:0001773Short foot0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0001773HP:0001773Short foot0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001773HP:0001773Short foot0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0001773HP:0001773Short foot0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001773HP:0001773Short foot0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001773HP:0001773Short foot0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0001773HP:0001773Short foot0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0001773HP:0001773Short foot0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0001773HP:0001773Short foot0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0001773HP:0001773Short foot0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0001773HP:0001773Short foot0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0001773HP:0001773Short foot0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0001773HP:0001773Short foot0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0001773HP:0001773Short foot0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0001773HP:0001773Short foot0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0001773HP:0001773Short foot0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040282 - Frequent749
HP:0001773HP:0001773Short foot0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0001773HP:0001773Short foot0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001773HP:0001773Short foot0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0001773HP:0001773Short foot0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0001773HP:0001773Short foot0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040282 - Frequent304
HP:0001773HP:0001773Short foot0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0001773HP:0001773Short foot0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0001773HP:0001773Short foot0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0001773HP:0001773Short foot0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0001773HP:0001773Short foot0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0001773HP:0001773Short foot0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield type.
HP:0001773HP:0001773Short foot0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0001773HP:0001773Short foot0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0001773HP:0001773Short foot0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0001773HP:0001773Short foot0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001773HP:0001773Short foot0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0001773HP:0001773Short foot0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040281 - Very frequent62
HP:0001773HP:0001773Short foot0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0001773HP:0001773Short foot0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040282 - Frequent172
HP:0001773HP:0001773Short foot0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040282 - Frequent175
HP:0001773HP:0001773Short foot0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040282 - Frequent175
HP:0001773HP:0001773Short foot0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040282 - Frequent175
HP:0001773HP:0001773Short foot0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0001773HP:0001773Short foot0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001773HP:0001773Short foot0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0001773HP:0001773Short foot0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0001773HP:0001773Short foot0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001773HP:0001773Short foot0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001773HP:0001773Short foot0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent52
HP:0001773HP:0001773Short foot0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0001773HP:0001773Short foot0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent52
HP:0001773HP:0001773Short foot0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent52
HP:0001773HP:0001773Short foot0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0001773HP:0001773Short foot0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001773HP:0001773Short foot0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0001773HP:0001773Short foot0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0001773HP:0001773Short foot0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0001773HP:0001773Short foot0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001773HP:0001773Short foot0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0001773HP:0001773Short foot0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0001773HP:0001773Short foot0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0001773HP:0001773Short foot0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0001773HP:0001773Short foot0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0001773HP:0001773Short foot0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001773HP:0001773Short foot0HNRNPR CL E G H102365047OMIM:620073
HP:0001773HP:0001773Short foot0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001773HP:0001773Short foot0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001773HP:0001773Short foot0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0001773HP:0001773Short foot0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040282 - Frequent148
HP:0001773HP:0001773Short foot0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040282 - Frequent48
HP:0001773HP:0001773Short foot0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0001773HP:0001773Short foot0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040282 - Frequent65
HP:0001773HP:0001773Short foot0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0001773HP:0001773Short foot0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001773HP:0001773Short foot0IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent44
HP:0001773HP:0001773Short foot0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0001773HP:0001773Short foot0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0001773HP:0001773Short foot0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0001773HP:0001773Short foot0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0001773HP:0001773Short foot0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001773HP:0001773Short foot0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001773HP:0001773Short foot0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001773HP:0001773Short foot0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0001773HP:0001773Short foot0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0001773HP:0001773Short foot0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0001773HP:0001773Short foot0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0001773HP:0001773Short foot0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0001773HP:0001773Short foot0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0001773HP:0001773Short foot0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001773HP:0001773Short foot0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0001773HP:0001773Short foot0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0001773HP:0001773Short foot0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0001773HP:0001773Short foot0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0001773HP:0001773Short foot0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0001773HP:0001773Short foot0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001773HP:0001773Short foot0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0001773HP:0001773Short foot0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001773HP:0001773Short foot0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001773HP:0001773Short foot0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001773HP:0001773Short foot0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent
HP:0001773HP:0001773Short foot0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0001773HP:0001773Short foot0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0001773HP:0001773Short foot0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0001773HP:0001773Short foot0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001773HP:0001773Short foot0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0001773HP:0001773Short foot0NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0001773HP:0001773Short foot0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0001773HP:0001773Short foot0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001773HP:0001773Short foot0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0001773HP:0001773Short foot0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0001773HP:0001773Short foot0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0001773HP:0001773Short foot0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0001773HP:0001773Short foot0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0001773HP:0001773Short foot0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040282 - Frequent36
HP:0001773HP:0001773Short foot0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0001773HP:0001773Short foot0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0001773HP:0001773Short foot0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0001773HP:0001773Short foot0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0PTH1R CL E G H57459608ORPHA:79106Eiken syndromeHP:0040282 - Frequent58
HP:0001773HP:0001773Short foot0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0001773HP:0001773Short foot0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001773HP:0001773Short foot0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0001773HP:0001773Short foot0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0001773HP:0001773Short foot0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001773HP:0001773Short foot0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001773HP:0001773Short foot0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001773HP:0001773Short foot0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0001773HP:0001773Short foot0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0001773HP:0001773Short foot0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0001773HP:0001773Short foot0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0001773HP:0001773Short foot0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001773HP:0001773Short foot0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0001773HP:0001773Short foot0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0001773HP:0001773Short foot0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0001773HP:0001773Short foot0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0001773HP:0001773Short foot0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0001773HP:0001773Short foot0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0001773HP:0001773Short foot0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0001773HP:0001773Short foot0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0001773HP:0001773Short foot0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001773HP:0001773Short foot0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001773HP:0001773Short foot0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0001773HP:0001773Short foot0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001773HP:0001773Short foot0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001773HP:0001773Short foot0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0001773HP:0001773Short foot0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0001773HP:0001773Short foot0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0001773HP:0001773Short foot0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0001773HP:0001773Short foot0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0001773HP:0001773Short foot0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0001773HP:0001773Short foot0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0001773HP:0001773Short foot0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0001773HP:0001773Short foot0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040282 - Frequent133
HP:0001773HP:0001773Short foot0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0001773HP:0001773Short foot0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0001773HP:0001773Short foot0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040282 - Frequent132
HP:0001773HP:0001773Short foot0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0001773HP:0001773Short foot0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001773HP:0001773Short foot0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0001773HP:0001773Short foot0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001773HP:0001773Short foot0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001773HP:0001773Short foot0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0001773HP:0001773Short foot0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0001773HP:0001773Short foot0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040282 - Frequent95
HP:0001773HP:0001773Short foot0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0001773HP:0001773Short foot0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0001773HP:0001773Short foot0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001773HP:0001773Short foot0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0001773HP:0001773Short foot0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC


Genes (145) :ADAMTSL2 ARL6 B3GLCT BBS1 BGN BMP2 BMPR1B BPNT2 BRD4 CAMK2G CASZ1 CCBE1 CCDC28B CCDC47 CDKL5 CENPE CEP120 CERT1 CHSY1 COG1 COL11A1 COL2A1 COL3A1 CTSK CUL4B DLK1 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A FAM50A FBN1 FBXL4 FBXO11 FGD1 FGFR1 FGFR2 FGFR3 FMR1 GABBR2 GABRD GALNT2 GDF5 GJA1 GPC3 GPC4 H4C3 HDAC4 HDAC6 HDAC8 HERC2 HNRNPR HSPG2 HTT HUWE1 IFT140 IFT172 IFT80 IGF1R IHH INPPL1 IPW KCNAB2 KCNJ2 KCNJ5 KDM4B KDM5C KIF5C LAS1L LIG4 LMBR1 LTBP3 LUZP1 MAGEL2 MAP3K7 MAPK8IP3 MASP1 MBD5 MECP2 MEG3 MKRN3 MKRN3-AS1 MMP23B MSL3 NDN NGLY1 NIPBL NOG NPAP1 NSUN2 NTNG1 OCA2 PDPN PIGL PIGN POC1A PPM1D PRDM16 PRKCZ PTH1R PWAR1 PWRN1 RAD21 RECQL4 RERE RMRP RNF2 RNU4ATAC RTL1 SATB1 SATB2 SHOX SIM1 SIN3A SKI SLC26A2 SLC35C1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SPART SPEN TBCE TBL1XR1 TELO2 TONSL TRIP11 TRPS1 TRRAP TTC21B TUBB3 UBE2A UBE4B USP7 USP9X WDR19 WDR35 WDR81 WNT7A ZMYM2

Diseases (134) :OMIM:231050 OMIM:209900 ORPHA:709 OMIM:261540 OMIM:300106 ORPHA:93396 ORPHA:2098 ORPHA:93388 OMIM:614078 ORPHA:199 OMIM:618522 ORPHA:1606 OMIM:235510 OMIM:618268 ORPHA:3095 OMIM:300672 OMIM:616051 ORPHA:474 OMIM:616351 ORPHA:363417 OMIM:611209 OMIM:228520 ORPHA:85166 OMIM:271700 ORPHA:2500 ORPHA:763 OMIM:300354 ORPHA:85293 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:614563 ORPHA:93271 ORPHA:464311 OMIM:300261 OMIM:102370 OMIM:614185 OMIM:615471 OMIM:618089 OMIM:305400 ORPHA:915 OMIM:166250 ORPHA:93258 ORPHA:93259 ORPHA:93260 ORPHA:53271 ORPHA:261483 OMIM:617903 OMIM:618885 OMIM:201250 OMIM:200700 OMIM:257850 ORPHA:373 OMIM:312870 OMIM:619758 ORPHA:1001 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:176270 OMIM:620073 OMIM:617435 OMIM:309590 OMIM:611263 OMIM:270450 OMIM:258480 OMIM:170390 ORPHA:37553 OMIM:619320 OMIM:300534 OMIM:615282 OMIM:309585 ORPHA:235 OMIM:135750 OMIM:617809 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:157800 OMIM:618443 OMIM:257920 OMIM:156200 OMIM:300260 OMIM:312750 OMIM:301032 OMIM:615273 ORPHA:140908 OMIM:186500 ORPHA:3474 ORPHA:280633 OMIM:614813 OMIM:617450 ORPHA:79106 OMIM:268400 OMIM:607095 OMIM:619460 OMIM:210710 OMIM:619229 ORPHA:251028 ORPHA:576283 ORPHA:314795 ORPHA:398079 OMIM:613406 ORPHA:93298 OMIM:266265 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:177907 OMIM:617140 OMIM:275900 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:602342 ORPHA:488642 ORPHA:93357 ORPHA:93299 OMIM:190351 OMIM:618454 ORPHA:300570 OMIM:300860 ORPHA:163956 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:614376 OMIM:610185 OMIM:276820 OMIM:619522
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.