Human Phenotype Ontology 
Grandparent Node:
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Abnormal hand morphology (HP:0005922)help
Grandparent Node:
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Aplasia/Hypoplasia of fingers (HP:0006265)help
Grandparent Node:
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Short digit (HP:0011927)help
Parent Node:
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Aplasia/Hypoplasia of the thumb (HP:0009601)help
Parent Node:
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Short finger (HP:0009381)help
..Starting node
..expand
Short thumb (HP:0009778)help
Term ID: 9778
Name: Short thumb
Synonym: Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia
Definition: Hypoplasia (congenital reduction in size) of the thumb.
Comments:
Reference: HP:0009778
Genes and Diseases:
 
       Child Nodes:
........expandThumbs hypoplastic with bulbous tips (HP:0005726) help
........expandShort phalanx of the thumb (HP:0009660) help
................... HP:0009638 Short proximal phalanx of thumb
................... HP:0009650 Short distal phalanx of the thumb
................... HP:0010034 Short 1st metacarpal

 Sister Nodes: 
..expandShort 2nd finger (HP:0009536) help
..expandShort 3rd finger (HP:0009461) help
..expandShort 4th finger (HP:0009280) help
..expandShort 5th finger (HP:0009237) help
..expandShort distal phalanx of finger (HP:0009882) help
..expandShort middle phalanx of finger (HP:0005819) help
..expandShort proximal phalanx of finger (HP:0010241) 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:0009778HP:0009778Short thumb0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0009778HP:0009778Short thumb0ACAN CL E G H176319ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndromeHP:0040282 - Frequent34
HP:0009778HP:0009778Short thumb0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009778HP:0009778Short thumb0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009778HP:0009778Short thumb0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent63
HP:0009778HP:0009778Short thumb0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0009778HP:0009778Short thumb0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0009778HP:0009778Short thumb0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0009778HP:0009778Short thumb0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0009778HP:0009778Short thumb0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0009778HP:0009778Short thumb0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009778HP:0009778Short thumb0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent90
HP:0009778HP:0009778Short thumb0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009778HP:0009778Short thumb0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0009778HP:0009778Short thumb0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009778HP:0009778Short thumb0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0009778HP:0009778Short thumb0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009778HP:0009778Short thumb0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0009778HP:0009778Short thumb0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0009778HP:0009778Short thumb0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009778HP:0009778Short thumb0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0009778HP:0009778Short thumb0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009778HP:0009778Short thumb0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009778HP:0009778Short thumb0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0009778HP:0009778Short thumb0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009778HP:0009778Short thumb0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009778HP:0009778Short thumb0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0009778HP:0009778Short thumb0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009778HP:0009778Short thumb0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009778HP:0009778Short thumb0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009778HP:0009778Short thumb0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040282 - Frequent92
HP:0009778HP:0009778Short thumb0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0009778HP:0009778Short thumb0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0009778HP:0009778Short thumb0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009778HP:0009778Short thumb0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0009778HP:0009778Short thumb0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0009778HP:0009778Short thumb0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0009778HP:0009778Short thumb0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent1361
HP:0009778HP:0009778Short thumb0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0009778HP:0009778Short thumb0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0009778HP:0009778Short thumb0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0009778HP:0009778Short thumb0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009778HP:0009778Short thumb0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0009778HP:0009778Short thumb0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0009778HP:0009778Short thumb0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040282 - Frequent493
HP:0009778HP:0009778Short thumb0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0009778HP:0009778Short thumb0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0009778HP:0009778Short thumb0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0009778HP:0009778Short thumb0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0009778HP:0009778Short thumb0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0009778HP:0009778Short thumb0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0009778HP:0009778Short thumb0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040281 - Very frequent52
HP:0009778HP:0009778Short thumb0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0009778HP:0009778Short thumb0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent52
HP:0009778HP:0009778Short thumb0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009778HP:0009778Short thumb0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0009778HP:0009778Short thumb0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009778HP:0009778Short thumb0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009778HP:0009778Short thumb0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0009778HP:0009778Short thumb0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0009778HP:0009778Short thumb0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009778HP:0009778Short thumb0IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040281 - Very frequent44
HP:0009778HP:0009778Short thumb0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009778HP:0009778Short thumb0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0009778HP:0009778Short thumb0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features.3
HP:0009778HP:0009778Short thumb0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0009778HP:0009778Short thumb0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009778HP:0009778Short thumb0LAMA5 CL E G H39116485OMIM:6200765
HP:0009778HP:0009778Short thumb0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0009778HP:0009778Short thumb0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009778HP:0009778Short thumb0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0009778HP:0009778Short thumb0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0009778HP:0009778Short thumb0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent123
HP:0009778HP:0009778Short thumb0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0009778HP:0009778Short thumb0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0009778HP:0009778Short thumb0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009778HP:0009778Short thumb0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0009778HP:0009778Short thumb0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040282 - Frequent1
HP:0009778HP:0009778Short thumb0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0009778HP:0009778Short thumb0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0009778HP:0009778Short thumb0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0009778HP:0009778Short thumb0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009778HP:0009778Short thumb0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009778HP:0009778Short thumb0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009778HP:0009778Short thumb0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009778HP:0009778Short thumb0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0009778HP:0009778Short thumb0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0009778HP:0009778Short thumb0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009778HP:0009778Short thumb0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0009778HP:0009778Short thumb0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009778HP:0009778Short thumb0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009778HP:0009778Short thumb0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0009778HP:0009778Short thumb0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0009778HP:0009778Short thumb0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0009778HP:0009778Short thumb0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009778HP:0009778Short thumb0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0009778HP:0009778Short thumb0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009778HP:0009778Short thumb0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0009778HP:0009778Short thumb0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0009778HP:0009778Short thumb0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009778HP:0009778Short thumb0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009778HP:0009778Short thumb0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 7.22
HP:0009778HP:0009778Short thumb0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009778HP:0009778Short thumb0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009778HP:0009778Short thumb0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009778HP:0009778Short thumb0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009778HP:0009778Short thumb0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009778HP:0009778Short thumb0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009778HP:0009778Short thumb0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0009778HP:0009778Short thumb0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0009778HP:0009778Short thumb0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0009778HP:0009778Short thumb0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0009778HP:0009778Short thumb0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009778HP:0009778Short thumb0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0009778HP:0009778Short thumb0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0009778HP:0009778Short thumb0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0009778HP:0009778Short thumb0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009778HP:0009778Short thumb0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009778HP:0009778Short thumb0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009778HP:0009778Short thumb0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009778HP:0009778Short thumb0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009778HP:0009778Short thumb0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009778HP:0009778Short thumb0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009778HP:0009778Short thumb0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009778HP:0009778Short thumb0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040281 - Very frequent86
HP:0009778HP:0009778Short thumb0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0009778HP:0009778Short thumb0SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040282 - Frequent86
HP:0009778HP:0009778Short thumb0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0009778HP:0009778Short thumb0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009778HP:0009778Short thumb0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0009778HP:0009778Short thumb0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0009778HP:0009778Short thumb0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0009778HP:0009778Short thumb0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0009778HP:0009778Short thumb0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009778HP:0009778Short thumb0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009778HP:0009778Short thumb0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0009778HP:0009778Short thumb0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009778HP:0009778Short thumb0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0009778HP:0009778Short thumb0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0009778HP:0009778Short thumb0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009778HP:0009778Short thumb0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009778HP:0009778Short thumb0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009778HP:0009778Short thumb0UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T.2
HP:0009778HP:0009778Short thumb0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009778HP:0009778Short thumb0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009778HP:0009778Short thumb0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009778HP:0009778Short thumb0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009778HP:0005726Thumbs hypoplastic with bulbous tips1 CL E G H
HP:0009778HP:0009660Short phalanx of the thumb1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009778HP:0009660Short phalanx of the thumb1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009778HP:0009660Short phalanx of the thumb1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009778HP:0009660Short phalanx of the thumb1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009778HP:0009660Short phalanx of the thumb1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009778HP:0009660Short phalanx of the thumb1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009778HP:0009660Short phalanx of the thumb1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0009778HP:0009660Short phalanx of the thumb1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0009778HP:0009660Short phalanx of the thumb1FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0009778HP:0009660Short phalanx of the thumb1FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0009778HP:0009660Short phalanx of the thumb1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0009778HP:0009660Short phalanx of the thumb1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009778HP:0009660Short phalanx of the thumb1GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0009778HP:0009660Short phalanx of the thumb1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009778HP:0009660Short phalanx of the thumb1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009778HP:0009660Short phalanx of the thumb1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009778HP:0009660Short phalanx of the thumb1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009778HP:0009660Short phalanx of the thumb1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009778HP:0009660Short phalanx of the thumb1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0009778HP:0009660Short phalanx of the thumb1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009778HP:0009660Short phalanx of the thumb1LAMA5 CL E G H39116485OMIM:6200765
HP:0009778HP:0009660Short phalanx of the thumb1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0009778HP:0009660Short phalanx of the thumb1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009778HP:0009660Short phalanx of the thumb1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009778HP:0009660Short phalanx of the thumb1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009778HP:0009660Short phalanx of the thumb1NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009778HP:0009660Short phalanx of the thumb1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009778HP:0009660Short phalanx of the thumb1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009778HP:0009660Short phalanx of the thumb1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0009778HP:0009660Short phalanx of the thumb1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0009778HP:0009660Short phalanx of the thumb1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009778HP:0009660Short phalanx of the thumb1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009778HP:0009660Short phalanx of the thumb1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009778HP:0009660Short phalanx of the thumb1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0009778HP:0009660Short phalanx of the thumb1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009778HP:0009660Short phalanx of the thumb1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0009778HP:0009660Short phalanx of the thumb1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009778HP:0009660Short phalanx of the thumb1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009778HP:0009660Short phalanx of the thumb1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0009778HP:0009660Short phalanx of the thumb1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009778HP:0009660Short phalanx of the thumb1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0009778HP:0009660Short phalanx of the thumb1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009778HP:0010034Short 1st metacarpal2ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0009778HP:0010034Short 1st metacarpal2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009778HP:0009650Short distal phalanx of the thumb2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009778HP:0009638Short proximal phalanx of thumb2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009778HP:0010034Short 1st metacarpal2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0009778HP:0010034Short 1st metacarpal2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0009778HP:0010034Short 1st metacarpal2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009778HP:0010034Short 1st metacarpal2FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0009778HP:0009650Short distal phalanx of the thumb2FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0009778HP:0010034Short 1st metacarpal2FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040281 - Very frequent
HP:0009778HP:0010034Short 1st metacarpal2FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0009778HP:0010034Short 1st metacarpal2GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0009778HP:0010034Short 1st metacarpal2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009778HP:0009650Short distal phalanx of the thumb2GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0009778HP:0010034Short 1st metacarpal2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0009778HP:0010034Short 1st metacarpal2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009778HP:0010034Short 1st metacarpal2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0009778HP:0009638Short proximal phalanx of thumb2IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009778HP:0009638Short proximal phalanx of thumb2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009778HP:0009650Short distal phalanx of the thumb2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0009778HP:0010034Short 1st metacarpal2LAMA5 CL E G H39116485OMIM:6200765
HP:0009778HP:0009650Short distal phalanx of the thumb2MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0009778HP:0010034Short 1st metacarpal2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009778HP:0010034Short 1st metacarpal2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0009778HP:0010034Short 1st metacarpal2NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009778HP:0010034Short 1st metacarpal2NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009778HP:0010034Short 1st metacarpal2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009778HP:0009650Short distal phalanx of the thumb2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0009778HP:0009650Short distal phalanx of the thumb2PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0009778HP:0009650Short distal phalanx of the thumb2PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0009778HP:0010034Short 1st metacarpal2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0009778HP:0010034Short 1st metacarpal2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0009778HP:0009650Short distal phalanx of the thumb2SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040281 - Very frequent86
HP:0009778HP:0010034Short 1st metacarpal2SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0009778HP:0010034Short 1st metacarpal2SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0009778HP:0010034Short 1st metacarpal2SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0009778HP:0010034Short 1st metacarpal2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0009778HP:0010034Short 1st metacarpal2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0009778HP:0010034Short 1st metacarpal2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0009778HP:0010034Short 1st metacarpal2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009778HP:0009650Short distal phalanx of the thumb2SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0009778HP:0010034Short 1st metacarpal2VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3


Genes (117) :ACAN ACVR1 ADA2 ADAMTS10 APC ATP6V1B2 BCOR BHLHA9 BICRA BMPR1B BRCA2 BRD4 BRIP1 CANT1 CHD7 CHST11 COL2A1 CPLX1 CREBBP CTBP1 DHCR7 DHODH DLK1 EIF4A3 EP300 ESCO2 FANCA FANCC FANCD2 FANCE FANCF FANCI FBN1 FGF10 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FZD2 GATA1 GDF5 GNAS HDAC8 HOXA13 IHH KCNH1 KDM1A KNSTRN LAMA5 LETM1 LMNB2 LRP4 LTBP2 MAP3K7 MED12 MEG3 MGP MIR17HG MYCN NELFA NIPBL NOG NSD2 PALB2 PCNT PIGG PIK3CD PKDCC PSMD12 PTCH1 PTCH2 RAD21 RAD51C RBM8A RECQL4 RIPK4 RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTL1 SALL4 SETBP1 SIN3A SLC26A2 SLX4 SMC1A SMC3 SOX9 SRCAP SUFU SVBP TFAP2A TSR2 UBE2T VPS35L WIPI2 ZMYM2 ZNF699

Diseases (97) :OMIM:165800 ORPHA:435804 OMIM:135100 ORPHA:124 ORPHA:3449 ORPHA:3258 ORPHA:79499 ORPHA:2712 ORPHA:157801 OMIM:619325 OMIM:609441 ORPHA:93388 OMIM:616849 OMIM:605724 ORPHA:199 OMIM:609054 OMIM:251450 OMIM:214800 OMIM:618167 OMIM:271700 ORPHA:280 OMIM:194190 OMIM:180849 OMIM:270400 OMIM:263750 ORPHA:96334 OMIM:268305 ORPHA:2319 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 ORPHA:2363 OMIM:216340 ORPHA:1826 ORPHA:90650 ORPHA:90652 OMIM:304120 ORPHA:93328 OMIM:164745 OMIM:201250 ORPHA:968 ORPHA:63442 OMIM:113100 ORPHA:79445 OMIM:140000 ORPHA:2438 OMIM:176305 OMIM:607778 OMIM:112500 ORPHA:420561 OMIM:616728 ORPHA:477993 ORPHA:221139 OMIM:620076 OMIM:616540 OMIM:300895 OMIM:245150 ORPHA:391646 OMIM:164280 ORPHA:391641 OMIM:611377 OMIM:186570 OMIM:610832 OMIM:210720 OMIM:618821 OMIM:617516 OMIM:109400 OMIM:613390 OMIM:274000 OMIM:268400 OMIM:263650 OMIM:210710 OMIM:612562 OMIM:612561 OMIM:105650 ORPHA:959 OMIM:607323 ORPHA:2307 OMIM:147750 OMIM:269150 ORPHA:798 OMIM:613406 ORPHA:93307 OMIM:613951 OMIM:114290 OMIM:136140 ORPHA:2044 OMIM:618569 OMIM:113620 OMIM:616435 OMIM:619135 OMIM:618453 OMIM:619522 OMIM:619488
 

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