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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Aplasia/Hypoplasia of the radius
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Accession:HP:0006501 term browser browse the term
Definition:A small/hypoplastic or absent/aplastic radius.
Synonyms:exact_synonym: Absence or underdevelopment of the radius bone of the arm;   Absent/small radius;   Absent/underdeveloped radius;   Radial aplasia/hypoplasia
 alt_id: HP:0005718
 xref: UMLS:C2749463



show annotations for term's descendants           Sort by:
 
Aplasia/Hypoplasia of the radius term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ORPHA:84 HPO NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP ORPHA:84 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP ORPHA:84 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP ORPHA:84 HPO NCBI chr 6:35,452,338...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FANCF FA complementation group F IAGP ORPHA:84 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP ORPHA:84 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP ORPHA:84 HPO NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FANCM FA complementation group M IAGP ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:2117 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP ORPHA:1149 HPO NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:93321 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,401,998
Ensembl chr 5:135,333,900...135,399,914
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,559
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP ORPHA:1040 HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP ORPHA:1040 HPO NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ORPHA:1147 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NALCN sodium leak channel, non-selective IAGP ORPHA:1147 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,774...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,140...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:266280 ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ORPHA:1788 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93321 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ORPHA:1147 HPO NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ORPHA:1147 HPO NCBI chr11:1,919,551...1,938,704
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:1147 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP OMIM:612447 HPO NCBI chr11:114,059,576...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Absent radius term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:251230 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP OMIM:314390 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP OMIM:227646 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP OMIM:600901 HPO NCBI chr 6:35,452,338...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B IAGP OMIM:112310 ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:135750 OMIM:200500 ORPHA:2378 ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600
ClinVar Annotator: match by term: Absent radius
HPO
ClinVar
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP OMIM:263650 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SEMA3E semaphorin 3E IAGP OMIM:214800 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP OMIM:154400 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:314390 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Bilateral radial aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B IAGP OMIM:300514 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
Hypoplasia of proximal radius term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 AF4/FMR2 family member 4 IAGP ORPHA:444077 HPO NCBI chr 5:132,875,381...132,963,655
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP ORPHA:2886 HPO NCBI chr  X:47,145,196...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
Hypoplasia of the radius term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP OMIM:607143 HPO NCBI chr22:49,860,163...49,918,469
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ORPHA:3258 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CCNQ cyclin Q IAGP ORPHA:140952 HPO NCBI chr  X:153,587,925...153,599,165
Ensembl chr  X:153,587,925...153,600,045
JBrowse link
G CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP OMIM:263750 ORPHA:246 HPO NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:617604 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ORPHA:3103 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:3412 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCF FA complementation group F IAGP OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:200700 OMIM:201250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G IFT81 intraflagellar transport 81 IAGP OMIM:617895 HPO NCBI chr12:110,124,335...110,218,793
Ensembl chr12:110,124,335...110,218,793
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP OMIM:212780 ORPHA:3258 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP OMIM:122470 HPO NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:602875 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:950 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:950 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,140...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP OMIM:311900 HPO NCBI chr  X:47,145,196...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP OMIM:617784 HPO NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RPL26 ribosomal protein L26 IAGP OMIM:614900 HPO NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPS19 ribosomal protein S19 IAGP OMIM:105650 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 OMIM:607323 ORPHA:2307 ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP OMIM:154400 ORPHA:245 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 OMIM:249700 ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP OMIM:613951 HPO NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:200600 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 OMIM:276820 ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Unilateral radial aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor IAGP ORPHA:476126 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Aplasia/hypoplasia involving bones of the upper limbs 543
            Aplasia/hypoplasia involving forearm bones 98
              Aplasia/Hypoplasia of the radius 82
                Absent radius + 25
                Hypoplasia of the radius + 39
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Aplasia/hypoplasia involving bones of the extremities 672
                  Aplasia/hypoplasia involving bones of the upper limbs 543
                    Aplasia/hypoplasia involving forearm bones 98
                      Aplasia/Hypoplasia of the radius 82
                        Absent radius + 25
                        Hypoplasia of the radius + 39
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