Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
Parent Node:
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Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)help
Parent Node:
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Short finger (HP:0009381)help
Parent Node:
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Short phalanx of finger (HP:0009803)help
..Starting node
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Short distal phalanx of finger (HP:0009882)help
Term ID: 9882
Name: Short distal phalanx of finger
Synonym: Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplasic terminal phalanges; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand
Definition: Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Comments:
Reference: HP:0009882
Genes and Diseases:
 
       Child Nodes:
........expandShort distal phalanx of the 3rd finger (HP:0004180) help
........expandShort distal phalanx of the 5th finger (HP:0004227) help
........expandShortening of all distal phalanges of the fingers (HP:0006118) help
........expandShort distal phalanx of the 4th finger (HP:0009290) help
........expandShort distal phalanx of the 2nd finger (HP:0009566) help
........expandShort distal phalanx of the thumb (HP:0009650) help

 Sister Nodes: 
..expandShort middle phalanx of finger (HP:0005819) help
..expandShort pointed phalanges (HP:0006045) help
..expandShort proximal phalanx of finger (HP:0010241) help
..expandShortening of all phalanges of fingers (HP:0011910) 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:0009882HP:0009882Short distal phalanx of finger0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0009882HP:0009882Short distal phalanx of finger0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0009882HP:0009882Short distal phalanx of finger0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0009882HP:0009882Short distal phalanx of finger0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDG66
HP:0009882HP:0009882Short distal phalanx of finger0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0009882HP:0009882Short distal phalanx of finger0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0009882HP:0009882Short distal phalanx of finger0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009882HP:0009882Short distal phalanx of finger0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040281 - Very frequent
HP:0009882HP:0009882Short distal phalanx of finger0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0009882HP:0009882Short distal phalanx of finger0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0009882HP:0009882Short distal phalanx of finger0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0009882HP:0009882Short distal phalanx of finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009882HP:0009882Short distal phalanx of finger0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009882HP:0009882Short distal phalanx of finger0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0009882HP:0009882Short distal phalanx of finger0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0009882HP:0009882Short distal phalanx of finger0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0009882HP:0009882Short distal phalanx of finger0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040281 - Very frequent102
HP:0009882HP:0009882Short distal phalanx of finger0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0009882HP:0009882Short distal phalanx of finger0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0009882HP:0009882Short distal phalanx of finger0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0009882HP:0009882Short distal phalanx of finger0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0009882HP:0009882Short distal phalanx of finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009882HP:0009882Short distal phalanx of finger0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0009882HP:0009882Short distal phalanx of finger0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0009882HP:0009882Short distal phalanx of finger0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0009882HP:0009882Short distal phalanx of finger0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0009882HP:0009882Short distal phalanx of finger0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0009882HP:0009882Short distal phalanx of finger0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0009882HP:0009882Short distal phalanx of finger0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0009882HP:0009882Short distal phalanx of finger0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0009882HP:0009882Short distal phalanx of finger0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0009882HP:0009882Short distal phalanx of finger0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0009882HP:0009882Short distal phalanx of finger0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0009882HP:0009882Short distal phalanx of finger0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0009882HP:0009882Short distal phalanx of finger0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0009882HP:0009882Short distal phalanx of finger0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009882HP:0009882Short distal phalanx of finger0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0009882HP:0009882Short distal phalanx of finger0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0009882HP:0009882Short distal phalanx of finger0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040282 - Frequent493
HP:0009882HP:0009882Short distal phalanx of finger0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040282 - Frequent493
HP:0009882HP:0009882Short distal phalanx of finger0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009882HP:0009882Short distal phalanx of finger0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0009882HP:0009882Short distal phalanx of finger0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0009882HP:0009882Short distal phalanx of finger0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0009882HP:0009882Short distal phalanx of finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009882HP:0009882Short distal phalanx of finger0GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1.129
HP:0009882HP:0009882Short distal phalanx of finger0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009882HP:0009882Short distal phalanx of finger0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009882HP:0009882Short distal phalanx of finger0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0009882HP:0009882Short distal phalanx of finger0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0009882HP:0009882Short distal phalanx of finger0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009882HP:0009882Short distal phalanx of finger0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0009882HP:0009882Short distal phalanx of finger0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009882HP:0009882Short distal phalanx of finger0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009882HP:0009882Short distal phalanx of finger0HNRNPR CL E G H102365047OMIM:620073
HP:0009882HP:0009882Short distal phalanx of finger0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0009882HP:0009882Short distal phalanx of finger0HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type EHP:0040282 - Frequent25
HP:0009882HP:0009882Short distal phalanx of finger0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040281 - Very frequent25
HP:0009882HP:0009882Short distal phalanx of finger0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V.25
HP:0009882HP:0009882Short distal phalanx of finger0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0009882HP:0009882Short distal phalanx of finger0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0009882HP:0009882Short distal phalanx of finger0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0009882HP:0009882Short distal phalanx of finger0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0009882HP:0009882Short distal phalanx of finger0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0009882HP:0009882Short distal phalanx of finger0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0009882HP:0009882Short distal phalanx of finger0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009882HP:0009882Short distal phalanx of finger0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009882HP:0009882Short distal phalanx of finger0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009882HP:0009882Short distal phalanx of finger0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0009882HP:0009882Short distal phalanx of finger0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0009882HP:0009882Short distal phalanx of finger0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0009882HP:0009882Short distal phalanx of finger0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0009882HP:0009882Short distal phalanx of finger0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0009882HP:0009882Short distal phalanx of finger0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0009882HP:0009882Short distal phalanx of finger0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0009882HP:0009882Short distal phalanx of finger0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009882HP:0009882Short distal phalanx of finger0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0009882HP:0009882Short distal phalanx of finger0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent645
HP:0009882HP:0009882Short distal phalanx of finger0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0009882HP:0009882Short distal phalanx of finger0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0009882HP:0009882Short distal phalanx of finger0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0009882HP:0009882Short distal phalanx of finger0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0009882HP:0009882Short distal phalanx of finger0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33
HP:0009882HP:0009882Short distal phalanx of finger0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0009882HP:0009882Short distal phalanx of finger0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent
HP:0009882HP:0009882Short distal phalanx of finger0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0009882HP:0009882Short distal phalanx of finger0NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0009882HP:0009882Short distal phalanx of finger0NOG CL E G H92417866OMIM:611377Brachydactyly, type B2.22
HP:0009882HP:0009882Short distal phalanx of finger0NOG CL E G H92417866OMIM:184460Stapes ankylosis with broad thumb and toes22
HP:0009882HP:0009882Short distal phalanx of finger0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent452
HP:0009882HP:0009882Short distal phalanx of finger0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0009882HP:0009882Short distal phalanx of finger0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0009882HP:0009882Short distal phalanx of finger0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009882HP:0009882Short distal phalanx of finger0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0009882HP:0009882Short distal phalanx of finger0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0009882HP:0009882Short distal phalanx of finger0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome29
HP:0009882HP:0009882Short distal phalanx of finger0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009882HP:0009882Short distal phalanx of finger0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009882HP:0009882Short distal phalanx of finger0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0009882HP:0009882Short distal phalanx of finger0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0009882HP:0009882Short distal phalanx of finger0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0009882HP:0009882Short distal phalanx of finger0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0009882HP:0009882Short distal phalanx of finger0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0009882HP:0009882Short distal phalanx of finger0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009882HP:0009882Short distal phalanx of finger0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0009882HP:0009882Short distal phalanx of finger0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0009882HP:0009882Short distal phalanx of finger0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0009882HP:0009882Short distal phalanx of finger0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009882HP:0009882Short distal phalanx of finger0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0009882HP:0009882Short distal phalanx of finger0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009882HP:0009882Short distal phalanx of finger0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0009882HP:0009882Short distal phalanx of finger0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0009882HP:0009882Short distal phalanx of finger0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0009882HP:0009882Short distal phalanx of finger0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0009882HP:0009882Short distal phalanx of finger0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0009882HP:0009882Short distal phalanx of finger0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0009882HP:0009882Short distal phalanx of finger0PTHLH CL E G H57449607ORPHA:93387Brachydactyly type EHP:0040282 - Frequent6
HP:0009882HP:0009882Short distal phalanx of finger0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent3
HP:0009882HP:0009882Short distal phalanx of finger0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 3.3
HP:0009882HP:0009882Short distal phalanx of finger0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0009882HP:0009882Short distal phalanx of finger0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009882HP:0009882Short distal phalanx of finger0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0009882HP:0009882Short distal phalanx of finger0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009882HP:0009882Short distal phalanx of finger0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0009882HP:0009882Short distal phalanx of finger0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0009882HP:0009882Short distal phalanx of finger0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0009882HP:0009882Short distal phalanx of finger0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040281 - Very frequent
HP:0009882HP:0009882Short distal phalanx of finger0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0009882HP:0009882Short distal phalanx of finger0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009882HP:0009882Short distal phalanx of finger0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0009882HP:0009882Short distal phalanx of finger0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0009882HP:0009882Short distal phalanx of finger0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0009882HP:0009882Short distal phalanx of finger0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0009882HP:0009882Short distal phalanx of finger0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0009882HP:0009882Short distal phalanx of finger0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0009882HP:0009882Short distal phalanx of finger0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009882HP:0009882Short distal phalanx of finger0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0009882HP:0009882Short distal phalanx of finger0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0009882HP:0009882Short distal phalanx of finger0TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0009882HP:0009882Short distal phalanx of finger0TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactylyHP:0040281 - Very frequent214
HP:0009882HP:0009882Short distal phalanx of finger0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0009882HP:0009882Short distal phalanx of finger0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009882HP:0009882Short distal phalanx of finger0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0009882HP:0009882Short distal phalanx of finger0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0009882HP:0009882Short distal phalanx of finger0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0009882HP:0009882Short distal phalanx of finger0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0009882HP:0009882Short distal phalanx of finger0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0009882HP:0009882Short distal phalanx of finger0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040281 - Very frequent83
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0009882HP:0004227Short distal phalanx of the 5th finger1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0009882HP:0009566Short distal phalanx of the 2nd finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009882HP:0009650Short distal phalanx of the thumb1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009882HP:0009566Short distal phalanx of the 2nd finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009882HP:0009290Short distal phalanx of the 4th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009882HP:0004227Short distal phalanx of the 5th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009882HP:0004180Short distal phalanx of the 3rd finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009882HP:0009650Short distal phalanx of the thumb1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0009882HP:0004180Short distal phalanx of the 3rd finger1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0009882HP:0009650Short distal phalanx of the thumb1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0009882HP:0004227Short distal phalanx of the 5th finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0009882HP:0004227Short distal phalanx of the 5th finger1HNRNPR CL E G H102365047OMIM:620073
HP:0009882HP:0004227Short distal phalanx of the 5th finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0009882HP:0009650Short distal phalanx of the thumb1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0009882HP:0009650Short distal phalanx of the thumb1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent20
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent36
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent84
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent57
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent6
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0009882HP:0009650Short distal phalanx of the thumb1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0009882HP:0009650Short distal phalanx of the thumb1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0009882HP:0009650Short distal phalanx of the thumb1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0009882HP:0009650Short distal phalanx of the thumb1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040281 - Very frequent86
HP:0009882HP:0004227Short distal phalanx of the 5th finger1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0009882HP:0009650Short distal phalanx of the thumb1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0009882HP:0006118Shortening of all distal phalanges of the fingers1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3


Genes (115) :ABCC9 ACP5 ACTL6B ALG6 ARHGAP31 ARID1A ARID1B ARSL ATP6V1B2 BCR BMPR1B BRF1 CCDC22 CHST11 CHST3 CLCN7 COG4 COL10A1 COL2A1 COMP CRIPT CRKL CWC27 DLL4 DOCK6 DVL1 DYNC2LI1 EDA EDA2R EOGT EVC EVC2 FIG4 FLNA FLNB FN1 FTSJ1 GDF5 GGCX GJA5 GJA8 GLI1 GNAS GPC3 GPC4 H19-ICR HNRNPR HOXA13 HOXD13 IFT122 IFT43 IFT52 IFT57 IGF2 IHH JAG1 KCNH1 KCNJ8 KCNN3 KDM5C KNSTRN LMNA MAP3K7 MAPK1 MCTP2 MGP MTOR MTX2 NFIX NOG NOTCH1 NOTCH2 NXN PCNT PGAP2 PGAP3 PHF6 PIGB PIGF PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3CD POC1A POR PRKACA PRKACB PTCH1 PTCH2 PTHLH RBPJ ROR2 RPS6KA3 SALL4 SETBP1 SLC25A24 SMARCA2 SMARCB1 SMARCE1 SOX11 STAMBP SUFU TBC1D24 TBX3 TRPS1 TRPV4 VPS35L WDR19 WDR35 ZBTB20 ZMPSTE24

Diseases (112) :ORPHA:1517 ORPHA:1855 OMIM:618470 ORPHA:79320 ORPHA:974 OMIM:614607 OMIM:135900 ORPHA:79345 OMIM:302950 ORPHA:79500 ORPHA:261330 OMIM:616849 OMIM:616202 OMIM:300963 OMIM:618167 OMIM:143095 ORPHA:53 OMIM:618150 OMIM:156500 ORPHA:85166 ORPHA:93315 OMIM:271700 OMIM:177170 OMIM:615789 OMIM:250410 OMIM:616331 ORPHA:289 ORPHA:181 OMIM:216340 ORPHA:1826 OMIM:309350 ORPHA:2484 ORPHA:90650 OMIM:311300 ORPHA:503 OMIM:309549 OMIM:615072 OMIM:277450 OMIM:612474 ORPHA:79445 OMIM:312870 ORPHA:2662 OMIM:180860 OMIM:620073 ORPHA:2438 ORPHA:93387 ORPHA:93406 OMIM:186300 ORPHA:1515 OMIM:218330 OMIM:617102 OMIM:617927 OMIM:607778 OMIM:112500 OMIM:118450 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:618658 OMIM:300534 ORPHA:221139 OMIM:248370 ORPHA:90153 ORPHA:1596 OMIM:245150 ORPHA:85202 OMIM:616638 OMIM:602535 ORPHA:140908 OMIM:611377 OMIM:184460 ORPHA:955 ORPHA:1507 OMIM:210720 ORPHA:247262 OMIM:301900 OMIM:618580 OMIM:619356 ORPHA:2059 OMIM:614080 OMIM:614749 OMIM:618143 OMIM:239300 OMIM:616809 OMIM:614813 ORPHA:95699 OMIM:109400 OMIM:614814 OMIM:268310 ORPHA:192 ORPHA:959 OMIM:269150 ORPHA:798 OMIM:612289 ORPHA:2095 ORPHA:2963 OMIM:619293 OMIM:614608 OMIM:616938 OMIM:615866 OMIM:614261 OMIM:220500 ORPHA:3138 ORPHA:77258 OMIM:606835 ORPHA:85169 ORPHA:93314 OMIM:619135 OMIM:614378 OMIM:614091 OMIM:259050 ORPHA:90154
 

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