Human Phenotype Ontology 
Grandparent Node:
expandAbnormal forearm bone morphology (HP:0040072)help
Parent Node:
expandAplasia/hypoplasia involving forearm bones (HP:0006503)help
Parent Node:
expandobsolete Abnormality of the ulna (HP:0002997)help
..Starting node
..expandAplasia/Hypoplasia of the ulna (HP:0006495)help
Term ID: 6495
Name: Aplasia/Hypoplasia of the ulna
Synonym: Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia
Definition: Absence or underdevelopment of the ulna.
Comments:
Reference: HP:0006495
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the ulna (HP:0003022) help
................... HP:0005033 Distal ulnar hypoplasia
................... HP:0005036 Unilateral ulnar hypoplasia
................... HP:0005648 Bilateral ulnar hypoplasia
........expandAplasia of the ulna (HP:0003982) help

 Sister Nodes: 
..expandAbnormal morphology of ulna (HP:0040071) help
..expandAbnormal olecranon morphology (HP:0004032) help
..expandAbnormal ulnar epiphysis morphology (HP:0004037) help
..expandAbnormal ulnar metaphysis morphology (HP:0004039) help
..expandDorsal subluxation of ulna (HP:0006459) help
..expandExostoses of the ulna (HP:0003985) help
..expandFractured ulna (HP:0003987) help
..expandLong ulna (HP:0003988) help
..expandNotched ulna (HP:0003989) help
..expandOsteosclerosis of the ulna (HP:0003991) help
..expandPointed ulna (HP:0003990) help
..expandPosteriorly dislocated ulna (HP:0003984) help
..expandRadioulnar synostosis (HP:0002974) help
..expandSlender ulna (HP:0003992) help
..expandUlnar bowing (HP:0003031) 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:0006495HP:0006495Aplasia/Hypoplasia of the ulna0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BHLHA9 CL E G H72785735126ORPHA:1986Gollop-Wolfgang complexHP:0040282 - Frequent4
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome284
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis59
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type52
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0LMBR1 CL E G H6432713243ORPHA:931Acheiropodia106
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0PDE4D CL E G H51448783ORPHA:950Acrodysostosis113
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0PRKAR1A CL E G H55739388ORPHA:950Acrodysostosis134
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 113
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040282 - Frequent49
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040281 - Very frequent100
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0006495HP:0006495Aplasia/Hypoplasia of the ulna0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0006495HP:0003022Hypoplasia of the ulna1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0006495HP:0003022Hypoplasia of the ulna1B2M CL E G H567914OMIM:241600Immunodeficiency 43.8
HP:0006495HP:0003022Hypoplasia of the ulna1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0006495HP:0003022Hypoplasia of the ulna1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0006495HP:0003022Hypoplasia of the ulna1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0006495HP:0003022Hypoplasia of the ulna1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0006495HP:0003022Hypoplasia of the ulna1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0006495HP:0003022Hypoplasia of the ulna1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0006495HP:0003022Hypoplasia of the ulna1CHD7 CL E G H5563620626OMIM:214800Charge syndromeHP:0040283 - Occasional515
HP:0006495HP:0003022Hypoplasia of the ulna1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0006495HP:0003022Hypoplasia of the ulna1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0006495HP:0003022Hypoplasia of the ulna1COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040282 - Frequent284
HP:0006495HP:0003022Hypoplasia of the ulna1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0006495HP:0003022Hypoplasia of the ulna1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0006495HP:0003022Hypoplasia of the ulna1DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0006495HP:0003022Hypoplasia of the ulna1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0006495HP:0003022Hypoplasia of the ulna1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0006495HP:0003022Hypoplasia of the ulna1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0006495HP:0003022Hypoplasia of the ulna1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0006495HP:0003022Hypoplasia of the ulna1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0006495HP:0003022Hypoplasia of the ulna1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0006495HP:0003022Hypoplasia of the ulna1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0006495HP:0003022Hypoplasia of the ulna1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0006495HP:0003022Hypoplasia of the ulna1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0006495HP:0003022Hypoplasia of the ulna1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0006495HP:0003022Hypoplasia of the ulna1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0006495HP:0003022Hypoplasia of the ulna1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0006495HP:0003022Hypoplasia of the ulna1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0006495HP:0003022Hypoplasia of the ulna1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0006495HP:0003022Hypoplasia of the ulna1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0006495HP:0003022Hypoplasia of the ulna1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0006495HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0006495HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0006495HP:0003022Hypoplasia of the ulna1GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0006495HP:0003022Hypoplasia of the ulna1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0006495HP:0003022Hypoplasia of the ulna1IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0006495HP:0003022Hypoplasia of the ulna1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0006495HP:0003982Aplasia of the ulna1LMBR1 CL E G H6432713243ORPHA:931AcheiropodiaHP:0040281 - Very frequent106
HP:0006495HP:0003982Aplasia of the ulna1LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0006495HP:0003022Hypoplasia of the ulna1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0006495HP:0003022Hypoplasia of the ulna1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0006495HP:0003022Hypoplasia of the ulna1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0006495HP:0003022Hypoplasia of the ulna1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006495HP:0003022Hypoplasia of the ulna1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0006495HP:0003022Hypoplasia of the ulna1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0006495HP:0003022Hypoplasia of the ulna1PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0006495HP:0003022Hypoplasia of the ulna1PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0006495HP:0003022Hypoplasia of the ulna1PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0006495HP:0003022Hypoplasia of the ulna1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0006495HP:0003022Hypoplasia of the ulna1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0006495HP:0003022Hypoplasia of the ulna1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0006495HP:0003022Hypoplasia of the ulna1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0006495HP:0003022Hypoplasia of the ulna1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0006495HP:0003022Hypoplasia of the ulna1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006495HP:0003022Hypoplasia of the ulna1RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0006495HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0006495HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0006495HP:0003022Hypoplasia of the ulna1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0006495HP:0003022Hypoplasia of the ulna1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006495HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0006495HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0006495HP:0003022Hypoplasia of the ulna1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0006495HP:0003022Hypoplasia of the ulna1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0006495HP:0003022Hypoplasia of the ulna1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0006495HP:0003982Aplasia of the ulna1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0006495HP:0003982Aplasia of the ulna1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0006495HP:0003022Hypoplasia of the ulna1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0006495HP:0003022Hypoplasia of the ulna1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0006495HP:0003022Hypoplasia of the ulna1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006495HP:0003982Aplasia of the ulna1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040281 - Very frequent13
HP:0006495HP:0003982Aplasia of the ulna1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0006495HP:0003022Hypoplasia of the ulna1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0006495HP:0005036Unilateral ulnar hypoplasia2 CL E G H
HP:0006495HP:0005648Bilateral ulnar hypoplasia2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006495HP:0005033Distal ulnar hypoplasia2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11


Genes (60) :APC B2M BHLHA9 BMPR1B BRCA1 BRCA2 BRIP1 CCDC8 CHD7 CHST3 COL2A1 CUL7 DHODH DYNC2H1 ERCC4 EXOC6B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FLNB GDF5 IHH JAG1 LMBR1 LRP4 MAD2L2 NOG OBSL1 PALB2 PDE4D PIGT PRKAR1A RAD51 RAD51C RBM8A RECQL4 RFWD3 ROR2 RPL26 SALL4 SCARF2 SF3B4 SHOX SLX4 TBX3 TBX5 UBE2T VPS35L WNT7A XRCC2

Diseases (48) :ORPHA:3258 OMIM:241600 ORPHA:1986 ORPHA:3329 OMIM:609441 ORPHA:93388 ORPHA:84 ORPHA:2616 OMIM:214800 OMIM:143095 OMIM:271700 ORPHA:1856 ORPHA:246 OMIM:263750 OMIM:613091 OMIM:618395 OMIM:149730 OMIM:108720 OMIM:201250 OMIM:200700 OMIM:607778 OMIM:118450 ORPHA:931 OMIM:200500 OMIM:212780 OMIM:186500 ORPHA:950 OMIM:615398 ORPHA:3320 OMIM:274000 OMIM:218600 OMIM:268310 OMIM:614900 ORPHA:959 OMIM:607323 OMIM:147750 OMIM:600920 ORPHA:1788 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:3138 OMIM:181450 OMIM:142900 OMIM:619135 OMIM:228930 ORPHA:2879 OMIM:276820
 

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