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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:Hypoplastic iliac wing
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Accession:HP:0002866 term browser browse the term
Definition:Underdevelopment of the ilium ala.
Synonyms:exact_synonym: Hypoplastic iliac alae;   Hypoplastic iliac wings;   Small iliac wings
 alt_id: HP:0003169;   HP:0003181;   HP:0008837
 xref: UMLS:C1865027

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Hypoplastic iliac wing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G H CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO OMIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G H COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:200610 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G H COL9A1 collagen type IX alpha 1 chain IAGP HPO OMIM:614134 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G H CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G H CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G H DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G H DYM dymeclin IAGP HPO OMIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G H EED embryonic ectoderm development IAGP HPO OMIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G H EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G H ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G H ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G H EVC EvC ciliary complex subunit 1 IAGP HPO OMIM:225500 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G H EVC2 EvC ciliary complex subunit 2 IAGP HPO OMIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G H EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G H FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G H HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G H IHH Indian hedgehog signaling molecule IAGP HPO OMIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G H LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G H LYSET lysosomal enzyme trafficking factor IAGP HPO OMIM:619345 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G H MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G H NKX3-2 NK3 homeobox 2 IAGP HPO OMIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G H PCNT pericentrin IAGP HPO OMIM:210720 ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G H RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G H RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G H RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G H SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G H 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 H TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G H TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO OMIM:313400 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G H 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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the musculoskeletal system 4447
        Abnormality of the skeletal system 3683
          Abnormal skeletal morphology 3563
            Abnormal appendicular skeleton morphology 2013
              Abnormal pelvic girdle bone morphology 643
                Abnormal hip bone morphology 580
                  Abnormal ilium morphology 113
                    Abnormal iliac wing morphology 68
                      Hypoplastic iliac wing 31
paths to the root