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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 patella
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Accession:HP:0006498 term browser browse the term
Definition:Absence or underdevelopment of the patella.
Synonyms:exact_synonym: Absent or hypoplastic patellae;   Absent/hypoplastic patella;   Absent/small kneecap;   Absent/underdeveloped kneecap;   Aplastic or hypoplastic patellae;   Hypoplastic or absent patella;   Patellar aplasia/hypoplasia;   Small to absent patellae
 alt_id: HP:0005006;   HP:0005027;   HP:0005702;   HP:0005729;   HP:0006374
 xref: MESH:C535568;   UMLS:C1868577


show annotations for term's descendants           Sort by:
Aplasia/Hypoplasia of the patella term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP HPO OMIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO ORPHA:1149 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO OMIM:200700 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:266280 ORPHA:1225 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:1509 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
Patellar aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO OMIM:613804 ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO OMIM:616835 ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple HPO
RGD		 PMID:22265017 OMIM:606170 ORPHA:85201, RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:135750 ORPHA:988 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO OMIM:613800 ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:988 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Patellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G FLNB filamin B IAGP ClinVar Annotator: match by term: Patellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31836586 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP HPO OMIM:619189 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the lower limb 1864
          Abnormal lower limb bone morphology 784
            Aplasia/hypoplasia involving bones of the lower limbs 390
              Aplasia/Hypoplasia of the patella 33
                Patellar aplasia 22
                Patellar hypoplasia 15
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal joint morphology 1369
              Abnormality of lower limb joint 742
                Abnormality of the knee 427
                  Abnormal knee morphology 365
                    Abnormal patella morphology 106
                      Aplasia/Hypoplasia of the patella 33
                        Patellar aplasia 22
                        Patellar hypoplasia 15
paths to the root