Human Phenotype Ontology 
Grandparent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Grandparent Node:
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Limb undergrowth (HP:0009826)help
Parent Node:
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Aplasia/hypoplasia involving forearm bones (HP:0006503)help
Parent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Short long bone (HP:0003026)help
Parent Node:
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Upper limb undergrowth (HP:0009824)help
..Starting node
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Forearm undergrowth (HP:0009821)help
Term ID: 9821
Name: Forearm undergrowth
Synonym: Forearm undergrowth; Hypoplasia involving forearm bones; Short forearm bones; Short forearms; Shortened forearm
Definition: Forearm shortening because of underdevelopment of one or more bones of the forearm.
Comments:
Reference: HP:0009821
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the radius (HP:0002984) help
................... HP:0006434 Hypoplasia of proximal radius
........expandHypoplasia of the ulna (HP:0003022) help
................... HP:0005033 Distal ulnar hypoplasia
................... HP:0005036 Unilateral ulnar hypoplasia
................... HP:0005648 Bilateral ulnar hypoplasia
........expandShort forearm (HP:0005773) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009821HP:0009821Forearm undergrowth0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0009821HP:0009821Forearm undergrowth0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0009821HP:0009821Forearm undergrowth0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0009821HP:0009821Forearm undergrowth0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009821HP:0009821Forearm undergrowth0B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0009821HP:0009821Forearm undergrowth0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009821HP:0009821Forearm undergrowth0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009821HP:0009821Forearm undergrowth0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009821HP:0009821Forearm undergrowth0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009821HP:0009821Forearm undergrowth0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009821HP:0009821Forearm undergrowth0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009821HP:0009821Forearm undergrowth0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009821HP:0009821Forearm undergrowth0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0009821HP:0009821Forearm undergrowth0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0009821HP:0009821Forearm undergrowth0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0009821HP:0009821Forearm undergrowth0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009821HP:0009821Forearm undergrowth0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome284
HP:0009821HP:0009821Forearm undergrowth0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009821HP:0009821Forearm undergrowth0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis59
HP:0009821HP:0009821Forearm undergrowth0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0009821HP:0009821Forearm undergrowth0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009821HP:0009821Forearm undergrowth0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0009821HP:0009821Forearm undergrowth0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0009821HP:0009821Forearm undergrowth0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009821HP:0009821Forearm undergrowth0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009821HP:0009821Forearm undergrowth0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndrome92
HP:0009821HP:0009821Forearm undergrowth0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009821HP:0009821Forearm undergrowth0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0009821HP:0009821Forearm undergrowth0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040283 - Occasional96
HP:0009821HP:0009821Forearm undergrowth0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040283 - Occasional102
HP:0009821HP:0009821Forearm undergrowth0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009821HP:0009821Forearm undergrowth0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009821HP:0009821Forearm undergrowth0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0009821HP:0009821Forearm undergrowth0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009821HP:0009821Forearm undergrowth0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009821HP:0009821Forearm undergrowth0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009821HP:0009821Forearm undergrowth0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009821HP:0009821Forearm undergrowth0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0009821HP:0009821Forearm undergrowth0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009821HP:0009821Forearm undergrowth0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009821HP:0009821Forearm undergrowth0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0009821HP:0009821Forearm undergrowth0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009821HP:0009821Forearm undergrowth0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009821HP:0009821Forearm undergrowth0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0009821HP:0009821Forearm undergrowth0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009821HP:0009821Forearm undergrowth0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0009821HP:0009821Forearm undergrowth0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009821HP:0009821Forearm undergrowth0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0009821HP:0009821Forearm undergrowth0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009821HP:0009821Forearm undergrowth0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type52
HP:0009821HP:0009821Forearm undergrowth0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009821HP:0009821Forearm undergrowth0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0009821HP:0009821Forearm undergrowth0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0009821HP:0009821Forearm undergrowth0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009821HP:0009821Forearm undergrowth0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009821HP:0009821Forearm undergrowth0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0009821HP:0009821Forearm undergrowth0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0009821HP:0009821Forearm undergrowth0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0009821HP:0009821Forearm undergrowth0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009821HP:0009821Forearm undergrowth0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0009821HP:0009821Forearm undergrowth0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009821HP:0009821Forearm undergrowth0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009821HP:0009821Forearm undergrowth0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0009821HP:0009821Forearm undergrowth0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009821HP:0009821Forearm undergrowth0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009821HP:0009821Forearm undergrowth0PDE4D CL E G H51448783ORPHA:950Acrodysostosis113
HP:0009821HP:0009821Forearm undergrowth0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0009821HP:0009821Forearm undergrowth0PRKAR1A CL E G H55739388ORPHA:950Acrodysostosis134
HP:0009821HP:0009821Forearm undergrowth0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009821HP:0009821Forearm undergrowth0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009821HP:0009821Forearm undergrowth0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009821HP:0009821Forearm undergrowth0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0009821HP:0009821Forearm undergrowth0RBM10 CL E G H82419896OMIM:311900Tarp syndrome16
HP:0009821HP:0009821Forearm undergrowth0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009821HP:0009821Forearm undergrowth0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0009821HP:0009821Forearm undergrowth0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009821HP:0009821Forearm undergrowth0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0009821HP:0009821Forearm undergrowth0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009821HP:0009821Forearm undergrowth0RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 113
HP:0009821HP:0009821Forearm undergrowth0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009821HP:0009821Forearm undergrowth0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009821HP:0009821Forearm undergrowth0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0009821HP:0009821Forearm undergrowth0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0009821HP:0009821Forearm undergrowth0SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0009821HP:0009821Forearm undergrowth0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0009821HP:0009821Forearm undergrowth0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0009821HP:0009821Forearm undergrowth0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0009821HP:0009821Forearm undergrowth0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0009821HP:0009821Forearm undergrowth0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0009821HP:0009821Forearm undergrowth0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009821HP:0009821Forearm undergrowth0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0009821HP:0009821Forearm undergrowth0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0009821HP:0009821Forearm undergrowth0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009821HP:0009821Forearm undergrowth0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0009821HP:0009821Forearm undergrowth0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009821HP:0009821Forearm undergrowth0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009821HP:0009821Forearm undergrowth0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0009821HP:0009821Forearm undergrowth0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009821HP:0009821Forearm undergrowth0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009821HP:0009821Forearm undergrowth0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009821HP:0009821Forearm undergrowth0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0009821HP:0009821Forearm undergrowth0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0009821HP:0009821Forearm undergrowth0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009821HP:0009821Forearm undergrowth0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0009821HP:0002984Hypoplasia of the radius1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0009821HP:0002984Hypoplasia of the radius1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0009821HP:0003022Hypoplasia of the ulna1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0009821HP:0002984Hypoplasia of the radius1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0009821HP:0002984Hypoplasia of the radius1ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009821HP:0003022Hypoplasia of the ulna1B2M CL E G H567914OMIM:241600Immunodeficiency 43.8
HP:0009821HP:0003022Hypoplasia of the ulna1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0009821HP:0003022Hypoplasia of the ulna1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0009821HP:0003022Hypoplasia of the ulna1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0009821HP:0003022Hypoplasia of the ulna1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0009821HP:0003022Hypoplasia of the ulna1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0009821HP:0003022Hypoplasia of the ulna1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0009821HP:0002984Hypoplasia of the radius1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040283 - Occasional7
HP:0009821HP:0003022Hypoplasia of the ulna1CHD7 CL E G H5563620626OMIM:214800Charge syndromeHP:0040283 - Occasional515
HP:0009821HP:0002984Hypoplasia of the radius1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0009821HP:0003022Hypoplasia of the ulna1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0009821HP:0003022Hypoplasia of the ulna1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009821HP:0003022Hypoplasia of the ulna1COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040282 - Frequent284
HP:0009821HP:0003022Hypoplasia of the ulna1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0009821HP:0003022Hypoplasia of the ulna1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0009821HP:0003022Hypoplasia of the ulna1DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0009821HP:0002984Hypoplasia of the radius1DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0009821HP:0002984Hypoplasia of the radius1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0009821HP:0002984Hypoplasia of the radius1DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0009821HP:0003022Hypoplasia of the ulna1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0009821HP:0002984Hypoplasia of the radius1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009821HP:0003022Hypoplasia of the ulna1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0009821HP:0002984Hypoplasia of the radius1ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040282 - Frequent92
HP:0009821HP:0002984Hypoplasia of the radius1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009821HP:0003022Hypoplasia of the ulna1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0009821HP:0003022Hypoplasia of the ulna1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0009821HP:0003022Hypoplasia of the ulna1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0009821HP:0002984Hypoplasia of the radius1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040282 - Frequent58
HP:0009821HP:0003022Hypoplasia of the ulna1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0009821HP:0003022Hypoplasia of the ulna1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0009821HP:0003022Hypoplasia of the ulna1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009821HP:0003022Hypoplasia of the ulna1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0009821HP:0002984Hypoplasia of the radius1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0009821HP:0003022Hypoplasia of the ulna1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009821HP:0003022Hypoplasia of the ulna1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0009821HP:0002984Hypoplasia of the radius1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0009821HP:0003022Hypoplasia of the ulna1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0009821HP:0003022Hypoplasia of the ulna1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0009821HP:0002984Hypoplasia of the radius1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0009821HP:0002984Hypoplasia of the radius1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009821HP:0003022Hypoplasia of the ulna1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009821HP:0002984Hypoplasia of the radius1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009821HP:0003022Hypoplasia of the ulna1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009821HP:0002984Hypoplasia of the radius1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0009821HP:0002984Hypoplasia of the radius1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009821HP:0003022Hypoplasia of the ulna1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009821HP:0002984Hypoplasia of the radius1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0009821HP:0002984Hypoplasia of the radius1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0009821HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0009821HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0009821HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0009821HP:0002984Hypoplasia of the radius1GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0009821HP:0002984Hypoplasia of the radius1IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0009821HP:0003022Hypoplasia of the ulna1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009821HP:0002984Hypoplasia of the radius1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0009821HP:0003022Hypoplasia of the ulna1IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0009821HP:0003022Hypoplasia of the ulna1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0009821HP:0003022Hypoplasia of the ulna1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0009821HP:0002984Hypoplasia of the radius1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0009821HP:0002984Hypoplasia of the radius1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0009821HP:0003022Hypoplasia of the ulna1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0009821HP:0003022Hypoplasia of the ulna1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0009821HP:0002984Hypoplasia of the radius1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0009821HP:0002984Hypoplasia of the radius1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009821HP:0003022Hypoplasia of the ulna1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009821HP:0002984Hypoplasia of the radius1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0009821HP:0003022Hypoplasia of the ulna1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0009821HP:0003022Hypoplasia of the ulna1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0009821HP:0002984Hypoplasia of the radius1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0009821HP:0003022Hypoplasia of the ulna1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0009821HP:0003022Hypoplasia of the ulna1PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0009821HP:0003022Hypoplasia of the ulna1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0009821HP:0002984Hypoplasia of the radius1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0009821HP:0003022Hypoplasia of the ulna1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0009821HP:0003022Hypoplasia of the ulna1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0009821HP:0002984Hypoplasia of the radius1RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0009821HP:0002984Hypoplasia of the radius1RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0009821HP:0002984Hypoplasia of the radius1RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0009821HP:0005773Short forearm1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009821HP:0003022Hypoplasia of the ulna1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009821HP:0002984Hypoplasia of the radius1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009821HP:0003022Hypoplasia of the ulna1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0009821HP:0002984Hypoplasia of the radius1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0009821HP:0003022Hypoplasia of the ulna1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0009821HP:0002984Hypoplasia of the radius1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0009821HP:0002984Hypoplasia of the radius1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009821HP:0003022Hypoplasia of the ulna1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009821HP:0003022Hypoplasia of the ulna1RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0009821HP:0002984Hypoplasia of the radius1RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0009821HP:0002984Hypoplasia of the radius1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0009821HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0009821HP:0002984Hypoplasia of the radius1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0009821HP:0002984Hypoplasia of the radius1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0009821HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0009821HP:0002984Hypoplasia of the radius1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0009821HP:0002984Hypoplasia of the radius1SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040281 - Very frequent86
HP:0009821HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0009821HP:0003022Hypoplasia of the ulna1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0009821HP:0002984Hypoplasia of the radius1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0009821HP:0002984Hypoplasia of the radius1SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0009821HP:0002984Hypoplasia of the radius1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0009821HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0009821HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0009821HP:0002984Hypoplasia of the radius1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0009821HP:0002984Hypoplasia of the radius1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0009821HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0009821HP:0003022Hypoplasia of the ulna1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0009821HP:0002984Hypoplasia of the radius1SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0009821HP:0002984Hypoplasia of the radius1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0009821HP:0003022Hypoplasia of the ulna1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0009821HP:0002984Hypoplasia of the radius1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009821HP:0003022Hypoplasia of the ulna1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009821HP:0002984Hypoplasia of the radius1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0009821HP:0003022Hypoplasia of the ulna1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0009821HP:0003022Hypoplasia of the ulna1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009821HP:0002984Hypoplasia of the radius1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009821HP:0002984Hypoplasia of the radius1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040282 - Frequent13
HP:0009821HP:0002984Hypoplasia of the radius1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0009821HP:0003022Hypoplasia of the ulna1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0009821HP:0002984Hypoplasia of the radius1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0009821HP:0005036Unilateral ulnar hypoplasia2 CL E G H
HP:0009821HP:0006434Hypoplasia of proximal radius2AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0009821HP:0006434Hypoplasia of proximal radius2ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0009821HP:0006434Hypoplasia of proximal radius2RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0009821HP:0005648Bilateral ulnar hypoplasia2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009821HP:0005033Distal ulnar hypoplasia2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11


Genes (74) :AFF4 ALG12 APC ATR B2M BMPR1B BRCA1 BRCA2 BRIP1 CCDC8 CCNQ CHD7 CHN1 CHST3 COL2A1 CUL7 DHODH DONSON DYNC2H1 EIF4A3 ERCC4 ESCO2 EXOC6B EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 GDF5 IFT81 IHH JAG1 LRP4 MAD2L2 MAFB NIPBL NOG NPR2 OBSL1 PALB2 PDE4D PIGT PRKAR1A RAD51 RAD51C RBM10 RBM8A RECQL4 RFWD3 ROR2 RPL26 RPS19 SALL4 SCARF2 SF3B4 SHOX SLX4 TBX3 TBX5 TRIP11 UBE2T VPS35L WNT7A XRCC2

Diseases (70) :ORPHA:444077 OMIM:607143 ORPHA:3258 OMIM:210600 OMIM:241600 OMIM:609441 ORPHA:93388 ORPHA:84 ORPHA:2616 ORPHA:140952 OMIM:214800 ORPHA:233 OMIM:143095 OMIM:271700 ORPHA:1856 OMIM:263750 ORPHA:246 OMIM:617604 OMIM:251230 OMIM:613091 OMIM:268305 ORPHA:2319 ORPHA:3103 OMIM:618395 ORPHA:321 ORPHA:3412 OMIM:603467 OMIM:609053 ORPHA:2363 OMIM:149730 OMIM:201250 OMIM:200700 OMIM:617895 OMIM:607778 OMIM:118450 OMIM:212780 OMIM:122470 OMIM:186500 OMIM:602875 ORPHA:950 OMIM:615398 OMIM:613390 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:218600 OMIM:617784 OMIM:268310 OMIM:614900 OMIM:105650 ORPHA:959 OMIM:607323 ORPHA:2307 OMIM:147750 OMIM:600920 OMIM:154400 ORPHA:245 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:314795 OMIM:613951 OMIM:181450 OMIM:142900 OMIM:200600 OMIM:619135 OMIM:228930 ORPHA:2879 OMIM:276820 OMIM:617247
 

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