Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skeletal system (HP:0000924)help
Parent Node:
expand
Abnormality of skeletal morphology (HP:0011842)help
..Starting node
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Skeletal dysplasia (HP:0002652)help
Term ID: 2652
Name: Skeletal dysplasia
Synonym: Abnormal skeletal development
Definition: A general term describing features characterized by abnormal development of bones and connective tissues.
Comments:
Reference: HP:0002652
Genes and Diseases:
 
       Child Nodes:
........expandSpondyloepimetaphyseal dysplasia (HP:0002651) help
........expandMultiple epiphyseal dysplasia (HP:0002654) help
........expandSpondyloepiphyseal dysplasia (HP:0002655) help
........expandEpiphyseal dysplasia (HP:0002656) help
........expandSpondylometaphyseal dysplasia (HP:0002657) help
........expandLethal skeletal dysplasia (HP:0005716) help
........expandMultiple skeletal anomalies (HP:0005775) help
........expandDiaphyseal dysplasia (HP:0100252) help
........expandMetaphyseal dysplasia (HP:0100255) help
................... HP:0005871 Metaphyseal chondrodysplasia

 Sister Nodes: 
..expandAbnormal appendicular skeleton morphology (HP:0011844) help
..expandAbnormal axial skeleton morphology (HP:0009121) help
..expandAbnormal bone structure (HP:0003330) help
..expandAbnormal cartilage morphology (HP:0002763) help
..expandAbnormal joint morphology (HP:0001367) help
..expandAbnormal tendon morphology (HP:0100261) help
..expandAbnormality of cartilage morphology (HP:0410007) help
..expandAbnormality of growth plate morphology (HP:0025368) help
..expandAbnormality of hyoid bone (HP:3000052) help
..expandAbnormality of mandibular symphysis (HP:3000079) help
..expandAbnormality of synovial bursa morphology (HP:0025231) help
..expandAplasia/hypoplasia involving the skeleton (HP:0009115) help
..expandDysostosis multiplex (HP:0000943) help
..expandHyperostosis (HP:0100774) help
..expandHyperplastic callus formation (HP:0030268) help
..expandNeoplasm of the skeletal system (HP:0010622) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002652HP:0002652Skeletal dysplasia0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0002652HP:0002652Skeletal dysplasia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002652HP:0002652Skeletal dysplasia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002652HP:0002652Skeletal dysplasia0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0002652HP:0002652Skeletal dysplasia0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0002652HP:0002652Skeletal dysplasia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia0ANKH CL E G H561721522ORPHA12233915492605145
HP:0002652HP:0002652Skeletal dysplasia0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0002652HP:0002652Skeletal dysplasia0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0002652HP:0002652Skeletal dysplasia0BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0002652HP:0002652Skeletal dysplasia0CEP120 CL E G H153241474ORPHA198726690613446
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia0CTSA CL E G H5476351ORPHA1391199251613111
HP:0002652HP:0002652Skeletal dysplasia0CTSK CL E G H1513763ORPHA158972536601105
HP:0002652HP:0002652Skeletal dysplasia0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0002652HP:0002652Skeletal dysplasia0DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0002652HP:0002652Skeletal dysplasia0DYM CL E G H54808239ORPHA13712421317607461
HP:0002652HP:0002652Skeletal dysplasia0DYNC2H1 CL E G H79659474ORPHA12078892962603297
HP:0002652HP:0002652Skeletal dysplasia0DYNC2LI1 CL E G H51626474ORPHA11417324595617083
HP:0002652HP:0002652Skeletal dysplasia0ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0002652HP:0002652Skeletal dysplasia0ERF CL E G H20772343ORPHA119753444611888
HP:0002652HP:0002652Skeletal dysplasia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H22611860ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H2261429Amniotic band syndromeORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia0FLNA CL E G H231690650ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia0FLNA CL E G H231690652ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia0GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0002652HP:0002652Skeletal dysplasia0GJA1 CL E G H26971522ORPHA11091414274121014
HP:0002652HP:0002652Skeletal dysplasia0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0002652HP:0002652Skeletal dysplasia0GNAS CL E G H2778562ORPHA12792164392139320
HP:0002652HP:0002652Skeletal dysplasia0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0002652HP:0002652Skeletal dysplasia0IDUA CL E G H342593473ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia0IDUA CL E G H342593476ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia0IFT140 CL E G H9742474ORPHA17253029077614620
HP:0002652HP:0002652Skeletal dysplasia0IFT172 CL E G H26160474ORPHA12726930391607386
HP:0002652HP:0002652Skeletal dysplasia0IFT80 CL E G H57560474ORPHA11321129262611177
HP:0002652HP:0002652Skeletal dysplasia0IHH CL E G H354963446ORPHA1331155956600726
HP:0002652HP:0002652Skeletal dysplasia0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0002652HP:0002652Skeletal dysplasia0KIF22 CL E G H383593360ORPHA142726391603213
HP:0002652HP:0002652Skeletal dysplasia0LEMD3 CL E G H23592166119ORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia0LIFR CL E G H39773206ORPHA1323466597151443
HP:0002652HP:0002652Skeletal dysplasia0LMX1B CL E G H40102614ORPHA11953046654602575
HP:0002652HP:0002652Skeletal dysplasia0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0002652HP:0002652Skeletal dysplasia0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0002652HP:0002652Skeletal dysplasia0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0002652HP:0002652Skeletal dysplasia0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0002652HP:0002652Skeletal dysplasia0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111478548176790
HP:0002652HP:0002652Skeletal dysplasia0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002652HP:0002652Skeletal dysplasia0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002652HP:0002652Skeletal dysplasia0PEX11B CL E G H8799912ORPHA182478853603867
HP:0002652HP:0002652Skeletal dysplasia0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002652HP:0002652Skeletal dysplasia0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002652HP:0002652Skeletal dysplasia0PEX14 CL E G H5195912ORPHA151768856601791
HP:0002652HP:0002652Skeletal dysplasia0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002652HP:0002652Skeletal dysplasia0PEX19 CL E G H5824912ORPHA141339713600279
HP:0002652HP:0002652Skeletal dysplasia0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002652HP:0002652Skeletal dysplasia0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002652HP:0002652Skeletal dysplasia0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002652HP:0002652Skeletal dysplasia0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002652HP:0002652Skeletal dysplasia0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002652HP:0002652Skeletal dysplasia0PEX7 CL E G H5191773ORPHA1531878860601757
HP:0002652HP:0002652Skeletal dysplasia0PHYH CL E G H5264773ORPHA1371278940602026
HP:0002652HP:0002652Skeletal dysplasia0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0002652HP:0002652Skeletal dysplasia0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0002652HP:0002652Skeletal dysplasia0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0002652HP:0002652Skeletal dysplasia0PTH1R CL E G H5745600002Eiken skeletal dysplasia600002C1838779OMIM1451009608168468
HP:0002652HP:0002652Skeletal dysplasia0RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0002652HP:0002652Skeletal dysplasia0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0002652HP:0002652Skeletal dysplasia0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0002652HP:0002652Skeletal dysplasia0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA1127810706607186
HP:0002652HP:0002652Skeletal dysplasia0SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0002652HP:0002652Skeletal dysplasia0SLC39A13 CL E G H91252157965ORPHA1910420859608735
HP:0002652HP:0002652Skeletal dysplasia0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0002652HP:0002652Skeletal dysplasia0TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117431628396609884
HP:0002652HP:0002652Skeletal dysplasia0TREM2 CL E G H542092770ORPHA1565917761605086
HP:0002652HP:0002652Skeletal dysplasia0TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0002652HP:0002652Skeletal dysplasia0TTC21B CL E G H79809474ORPHA16333425660612014
HP:0002652HP:0002652Skeletal dysplasia0TYROBP CL E G H73052770ORPHA1144212449604142
HP:0002652HP:0002652Skeletal dysplasia0WDR19 CL E G H57728474ORPHA14529418340608151
HP:0002652HP:0002652Skeletal dysplasia0WDR34 CL E G H89891474ORPHA12128296613363
HP:0002652HP:0002652Skeletal dysplasia0WDR60 CL E G H55112474ORPHA11321862615462
HP:0002652HP:0002652Skeletal dysplasia1ABCC9 CL E G H100601517ORPHA14965860601439
HP:0002652HP:0002652Skeletal dysplasia1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002652HP:0002652Skeletal dysplasia1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002652HP:0002652Skeletal dysplasia1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0002652HP:0002652Skeletal dysplasia1ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0002652HP:0002652Skeletal dysplasia1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia1ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia1ANKH CL E G H561721522ORPHA12233915492605145
HP:0002652HP:0002652Skeletal dysplasia1B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0002652HP:0002652Skeletal dysplasia1B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0002652HP:0002652Skeletal dysplasia1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0002652HP:0002652Skeletal dysplasia1CEP120 CL E G H153241474ORPHA198726690613446
HP:0002652HP:0002652Skeletal dysplasia1COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia1COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia1COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia1COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia1CTSA CL E G H5476351ORPHA1391199251613111
HP:0002652HP:0002652Skeletal dysplasia1CTSK CL E G H1513763ORPHA158972536601105
HP:0002652HP:0002652Skeletal dysplasia1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0002652HP:0002652Skeletal dysplasia1DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0002652HP:0002652Skeletal dysplasia1DYM CL E G H54808239ORPHA13712421317607461
HP:0002652HP:0002652Skeletal dysplasia1DYNC2H1 CL E G H79659474ORPHA12078892962603297
HP:0002652HP:0002652Skeletal dysplasia1DYNC2LI1 CL E G H51626474ORPHA11417324595617083
HP:0002652HP:0002652Skeletal dysplasia1ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0002652HP:0002652Skeletal dysplasia1ERF CL E G H20772343ORPHA119753444611888
HP:0002652HP:0002652Skeletal dysplasia1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0002652HP:0002652Skeletal dysplasia1FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia1FGFR3 CL E G H22611860ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia1FGFR3 CL E G H2261429Amniotic band syndromeORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia1FLNA CL E G H231690650ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia1FLNA CL E G H231690652ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0002652HP:0002652Skeletal dysplasia1GJA1 CL E G H26971522ORPHA11091414274121014
HP:0002652HP:0002652Skeletal dysplasia1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0002652HP:0002652Skeletal dysplasia1GNAS CL E G H2778562ORPHA12792164392139320
HP:0002652HP:0002652Skeletal dysplasia1HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0002652HP:0002652Skeletal dysplasia1IDUA CL E G H342593476ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia1IDUA CL E G H342593473ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia1IFT140 CL E G H9742474ORPHA17253029077614620
HP:0002652HP:0002652Skeletal dysplasia1IFT172 CL E G H26160474ORPHA12726930391607386
HP:0002652HP:0002652Skeletal dysplasia1IFT80 CL E G H57560474ORPHA11321129262611177
HP:0002652HP:0002652Skeletal dysplasia1IHH CL E G H354963446ORPHA1331155956600726
HP:0002652HP:0002652Skeletal dysplasia1KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0002652HP:0002652Skeletal dysplasia1KIF22 CL E G H383593360ORPHA142726391603213
HP:0002652HP:0002652Skeletal dysplasia1LEMD3 CL E G H23592166119ORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia1LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia1LIFR CL E G H39773206ORPHA1323466597151443
HP:0002652HP:0002652Skeletal dysplasia1LMX1B CL E G H40102614ORPHA11953046654602575
HP:0002652HP:0002652Skeletal dysplasia1NEU1 CL E G H4758812ORPHA1641027758608272
HP:0002652HP:0002652Skeletal dysplasia1NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0002652HP:0002652Skeletal dysplasia1NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0002652HP:0002652Skeletal dysplasia1NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0002652HP:0002652Skeletal dysplasia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111478548176790
HP:0002652HP:0002652Skeletal dysplasia1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002652HP:0002652Skeletal dysplasia1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002652HP:0002652Skeletal dysplasia1PEX11B CL E G H8799912ORPHA182478853603867
HP:0002652HP:0002652Skeletal dysplasia1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002652HP:0002652Skeletal dysplasia1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002652HP:0002652Skeletal dysplasia1PEX14 CL E G H5195912ORPHA151768856601791
HP:0002652HP:0002652Skeletal dysplasia1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002652HP:0002652Skeletal dysplasia1PEX19 CL E G H5824912ORPHA141339713600279
HP:0002652HP:0002652Skeletal dysplasia1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002652HP:0002652Skeletal dysplasia1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002652HP:0002652Skeletal dysplasia1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002652HP:0002652Skeletal dysplasia1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002652HP:0002652Skeletal dysplasia1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002652HP:0002652Skeletal dysplasia1PEX7 CL E G H5191773ORPHA1531878860601757
HP:0002652HP:0002652Skeletal dysplasia1PHYH CL E G H5264773ORPHA1371278940602026
HP:0002652HP:0002652Skeletal dysplasia1POLR1C CL E G H9533861ORPHA1219220194610060
HP:0002652HP:0002652Skeletal dysplasia1POLR1D CL E G H51082861ORPHA1264820422613715
HP:0002652HP:0002652Skeletal dysplasia1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0002652HP:0002652Skeletal dysplasia1PTH1R CL E G H5745600002Eiken skeletal dysplasia600002C1838779OMIM1451009608168468
HP:0002652HP:0002652Skeletal dysplasia1RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0002652HP:0002652Skeletal dysplasia1RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0002652HP:0002652Skeletal dysplasia1SEC23A CL E G H1048450814ORPHA144810701610511
HP:0002652HP:0002652Skeletal dysplasia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA1127810706607186
HP:0002652HP:0002652Skeletal dysplasia1SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0002652HP:0002652Skeletal dysplasia1SLC39A13 CL E G H91252157965ORPHA1910420859608735
HP:0002652HP:0002652Skeletal dysplasia1TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0002652HP:0002652Skeletal dysplasia1TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117431628396609884
HP:0002652HP:0002652Skeletal dysplasia1TREM2 CL E G H542092770ORPHA1565917761605086
HP:0002652HP:0002652Skeletal dysplasia1TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0002652HP:0002652Skeletal dysplasia1TTC21B CL E G H79809474ORPHA16333425660612014
HP:0002652HP:0002652Skeletal dysplasia1TYROBP CL E G H73052770ORPHA1144212449604142
HP:0002652HP:0002652Skeletal dysplasia1WDR19 CL E G H57728474ORPHA14529418340608151
HP:0002652HP:0002652Skeletal dysplasia1WDR34 CL E G H89891474ORPHA12128296613363
HP:0002652HP:0002652Skeletal dysplasia1WDR60 CL E G H55112474ORPHA11321862615462
HP:0002652HP:0002652Skeletal dysplasia2ABCC9 CL E G H100601517ORPHA14965860601439
HP:0002652HP:0002652Skeletal dysplasia2ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002652HP:0002652Skeletal dysplasia2ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002652HP:0002652Skeletal dysplasia2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0002652HP:0002652Skeletal dysplasia2ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0002652HP:0002652Skeletal dysplasia2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia2ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM1416015672606941
HP:0002652HP:0002652Skeletal dysplasia2ANKH CL E G H561721522ORPHA12233915492605145
HP:0002652HP:0002652Skeletal dysplasia2B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0002652HP:0002652Skeletal dysplasia2B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0002652HP:0002652Skeletal dysplasia2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0002652HP:0002652Skeletal dysplasia2CEP120 CL E G H153241474ORPHA198726690613446
HP:0002652HP:0002652Skeletal dysplasia2COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia2COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia2COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia2COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0002652HP:0002652Skeletal dysplasia2CTSA CL E G H5476351ORPHA1391199251613111
HP:0002652HP:0002652Skeletal dysplasia2CTSK CL E G H1513763ORPHA158972536601105
HP:0002652HP:0002652Skeletal dysplasia2DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0002652HP:0002652Skeletal dysplasia2DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0002652HP:0002652Skeletal dysplasia2DYM CL E G H54808239ORPHA13712421317607461
HP:0002652HP:0002652Skeletal dysplasia2DYNC2H1 CL E G H79659474ORPHA12078892962603297
HP:0002652HP:0002652Skeletal dysplasia2DYNC2LI1 CL E G H51626474ORPHA11417324595617083
HP:0002652HP:0002652Skeletal dysplasia2ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0002652HP:0002652Skeletal dysplasia2ERF CL E G H20772343ORPHA119753444611888
HP:0002652HP:0002652Skeletal dysplasia2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0002652HP:0002652Skeletal dysplasia2FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia2FGFR3 CL E G H22611860ORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia2FGFR3 CL E G H2261429Amniotic band syndromeORPHA1774313690134934
HP:0002652HP:0002652Skeletal dysplasia2FLNA CL E G H231690652ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia2FLNA CL E G H231690650ORPHA127114723754300017
HP:0002652HP:0002652Skeletal dysplasia2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0002652HP:0002652Skeletal dysplasia2GJA1 CL E G H26971522ORPHA11091414274121014
HP:0002652HP:0002652Skeletal dysplasia2GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0002652HP:0002652Skeletal dysplasia2GNAS CL E G H2778562ORPHA12792164392139320
HP:0002652HP:0002652Skeletal dysplasia2HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0002652HP:0002652Skeletal dysplasia2IDUA CL E G H342593476ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia2IDUA CL E G H342593473ORPHA12916225391252800
HP:0002652HP:0002652Skeletal dysplasia2IFT140 CL E G H9742474ORPHA17253029077614620
HP:0002652HP:0002652Skeletal dysplasia2IFT172 CL E G H26160474ORPHA12726930391607386
HP:0002652HP:0002652Skeletal dysplasia2IFT80 CL E G H57560474ORPHA11321129262611177
HP:0002652HP:0002652Skeletal dysplasia2IHH CL E G H354963446ORPHA1331155956600726
HP:0002652HP:0002652Skeletal dysplasia2KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0002652HP:0002652Skeletal dysplasia2KIF22 CL E G H383593360ORPHA142726391603213
HP:0002652HP:0002652Skeletal dysplasia2LEMD3 CL E G H23592166119ORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia2LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA13413828887607844
HP:0002652HP:0002652Skeletal dysplasia2LIFR CL E G H39773206ORPHA1323466597151443
HP:0002652HP:0002652Skeletal dysplasia2LMX1B CL E G H40102614ORPHA11953046654602575
HP:0002652HP:0002652Skeletal dysplasia2NEU1 CL E G H4758812ORPHA1641027758608272
HP:0002652HP:0002652Skeletal dysplasia2NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0002652HP:0002652Skeletal dysplasia2NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0002652HP:0002652Skeletal dysplasia2NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0002652HP:0002652Skeletal dysplasia2P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111478548176790
HP:0002652HP:0002652Skeletal dysplasia2PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002652HP:0002652Skeletal dysplasia2PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002652HP:0002652Skeletal dysplasia2PEX11B CL E G H8799912ORPHA182478853603867
HP:0002652HP:0002652Skeletal dysplasia2PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002652HP:0002652Skeletal dysplasia2PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002652HP:0002652Skeletal dysplasia2PEX14 CL E G H5195912ORPHA151768856601791
HP:0002652HP:0002652Skeletal dysplasia2PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002652HP:0002652Skeletal dysplasia2PEX19 CL E G H5824912ORPHA141339713600279
HP:0002652HP:0002652Skeletal dysplasia2PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002652HP:0002652Skeletal dysplasia2PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002652HP:0002652Skeletal dysplasia2PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002652HP:0002652Skeletal dysplasia2PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002652HP:0002652Skeletal dysplasia2PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002652HP:0002652Skeletal dysplasia2PEX7 CL E G H5191773ORPHA1531878860601757
HP:0002652HP:0002652Skeletal dysplasia2PHYH CL E G H5264773ORPHA1371278940602026
HP:0002652HP:0002652Skeletal dysplasia2POLR1C CL E G H9533861ORPHA1219220194610060
HP:0002652HP:0002652Skeletal dysplasia2POLR1D CL E G H51082861ORPHA1264820422613715
HP:0002652HP:0002652Skeletal dysplasia2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0002652HP:0002652Skeletal dysplasia2PTH1R CL E G H5745600002Eiken skeletal dysplasia600002C1838779OMIM1451009608168468
HP:0002652HP:0002652Skeletal dysplasia2RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0002652HP:0002652Skeletal dysplasia2RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0002652HP:0002652Skeletal dysplasia2SEC23A CL E G H1048450814ORPHA144810701610511
HP:0002652HP:0002652Skeletal dysplasia2SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA1127810706607186
HP:0002652HP:0002652Skeletal dysplasia2SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0002652HP:0002652Skeletal dysplasia2SLC39A13 CL E G H91252157965ORPHA1910420859608735
HP:0002652HP:0002652Skeletal dysplasia2TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0002652HP:0002652Skeletal dysplasia2TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM117431628396609884
HP:0002652HP:0002652Skeletal dysplasia2TREM2 CL E G H542092770ORPHA1565917761605086
HP:0002652HP:0002652Skeletal dysplasia2TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0002652HP:0002652Skeletal dysplasia2TTC21B CL E G H79809474ORPHA16333425660612014
HP:0002652HP:0002652Skeletal dysplasia2TYROBP CL E G H73052770ORPHA1144212449604142
HP:0002652HP:0002652Skeletal dysplasia2WDR19 CL E G H57728474ORPHA14529418340608151
HP:0002652HP:0002652Skeletal dysplasia2WDR34 CL E G H89891474ORPHA12128296613363
HP:0002652HP:0002652Skeletal dysplasia2WDR60 CL E G H55112474ORPHA11321862615462
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002652HP:0002652Skeletal dysplasia0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0002652HP:0002652Skeletal dysplasia0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0002652HP:0002652Skeletal dysplasia0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA0312441762114021
HP:0002652HP:0002652Skeletal dysplasia0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0002652HP:0002652Skeletal dysplasia0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA064516472201120180
HP:0002652HP:0002652Skeletal dysplasia0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0002652HP:0002652Skeletal dysplasia0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0002652HP:0002652Skeletal dysplasia0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0002652HP:0002652Skeletal dysplasia0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0002652HP:0002652Skeletal dysplasia0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0002652HP:0002652Skeletal dysplasia0FGFR1 CL E G H22602396ORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0002652HP:0002652Skeletal dysplasia0GNAS CL E G H277857782ORPHA02792164392139320
HP:0002652HP:0002652Skeletal dysplasia0HBB CL E G H3043231214ORPHA087110094827141900
HP:0002652HP:0002652Skeletal dysplasia0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0002652HP:0002652Skeletal dysplasia0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0002652HP:0002652Skeletal dysplasia0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0002652HP:0002652Skeletal dysplasia0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0002652HP:0002652Skeletal dysplasia0KRAS CL E G H38452396ORPHA0452746407190070
HP:0002652HP:0002652Skeletal dysplasia0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0002652HP:0002652Skeletal dysplasia0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0002652HP:0002652Skeletal dysplasia0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0002652HP:0002652Skeletal dysplasia0PTEN CL E G H57282969ORPHA065820199588601728
HP:0002652HP:0002652Skeletal dysplasia0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0002652HP:0002652Skeletal dysplasia0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0002652HP:0002652Skeletal dysplasia0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0002652HP:0002652Skeletal dysplasia0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0002652HP:0002652Skeletal dysplasia0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417
HP:0002652HP:0002652Skeletal dysplasia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0002652HP:0002652Skeletal dysplasia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0002652HP:0002652Skeletal dysplasia1CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA0312441762114021
HP:0002652HP:0002652Skeletal dysplasia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0002652HP:0002652Skeletal dysplasia1COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA064516472201120180
HP:0002652HP:0002652Skeletal dysplasia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0002652HP:0002652Skeletal dysplasia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0002652HP:0002652Skeletal dysplasia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0002652HP:0002652Skeletal dysplasia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0002652HP:0002652Skeletal dysplasia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0002652HP:0002652Skeletal dysplasia1FGFR1 CL E G H22602396ORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0002652HP:0002652Skeletal dysplasia1GNAS CL E G H277857782ORPHA02792164392139320
HP:0002652HP:0002652Skeletal dysplasia1HBB CL E G H3043231214ORPHA087110094827141900
HP:0002652HP:0002652Skeletal dysplasia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0002652HP:0002652Skeletal dysplasia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0002652HP:0002652Skeletal dysplasia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0002652HP:0002652Skeletal dysplasia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0002652HP:0002652Skeletal dysplasia1KRAS CL E G H38452396ORPHA0452746407190070
HP:0002652HP:0002652Skeletal dysplasia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0002652HP:0002652Skeletal dysplasia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0002652HP:0002652Skeletal dysplasia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0002652HP:0002652Skeletal dysplasia1PTEN CL E G H57282969ORPHA065820199588601728
HP:0002652HP:0002652Skeletal dysplasia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0002652HP:0002652Skeletal dysplasia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0002652HP:0002652Skeletal dysplasia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0002652HP:0002652Skeletal dysplasia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0002652HP:0002652Skeletal dysplasia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417
HP:0002652HP:0002652Skeletal dysplasia2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01913466211300836
HP:0002652HP:0002652Skeletal dysplasia2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA016626821616031
HP:0002652HP:0002652Skeletal dysplasia2CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA0312441762114021
HP:0002652HP:0002652Skeletal dysplasia2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0884126620626608892
HP:0002652HP:0002652Skeletal dysplasia2COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA064516472201120180
HP:0002652HP:0002652Skeletal dysplasia2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0411232701120470
HP:0002652HP:0002652Skeletal dysplasia2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA05243072602748
HP:0002652HP:0002652Skeletal dysplasia2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA034122788613301
HP:0002652HP:0002652Skeletal dysplasia2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA05823673603725
HP:0002652HP:0002652Skeletal dysplasia2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA041543686600483
HP:0002652HP:0002652Skeletal dysplasia2FGFR1 CL E G H22602396ORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653883688136350
HP:0002652HP:0002652Skeletal dysplasia2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA07413762604808
HP:0002652HP:0002652Skeletal dysplasia2GNAS CL E G H277857782ORPHA02792164392139320
HP:0002652HP:0002652Skeletal dysplasia2HBB CL E G H3043231214ORPHA087110094827141900
HP:0002652HP:0002652Skeletal dysplasia2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA027464877601802
HP:0002652HP:0002652Skeletal dysplasia2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA08335201604846
HP:0002652HP:0002652Skeletal dysplasia2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA0144917616606807
HP:0002652HP:0002652Skeletal dysplasia2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA039784510604161
HP:0002652HP:0002652Skeletal dysplasia2KRAS CL E G H38452396ORPHA0452746407190070
HP:0002652HP:0002652Skeletal dysplasia2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0910429843608137
HP:0002652HP:0002652Skeletal dysplasia2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA0213418455607002
HP:0002652HP:0002652Skeletal dysplasia2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA0839815836607123
HP:0002652HP:0002652Skeletal dysplasia2PTEN CL E G H57282969ORPHA065820199588601728
HP:0002652HP:0002652Skeletal dysplasia2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA0318210723603961
HP:0002652HP:0002652Skeletal dysplasia2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015119211190602229
HP:0002652HP:0002652Skeletal dysplasia2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA0113315533607984
HP:0002652HP:0002652Skeletal dysplasia2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA0377911528162332
HP:0002652HP:0002652Skeletal dysplasia2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA0189113831606417


Genes (160) :ABCC9 ACAN ACP5 ACTB ACTG1 AKT1 ALDH3A2 ALG9 ANKH ANOS1 ARSB B3GALT6 B4GALT7 BGN BMPR1B CANT1 CCDC141 CDH3 CDKN1C CEP120 CFAP410 CHD7 CHST3 COL10A1 COL11A1 COL11A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMP CTSA CTSK CWC27 DCC DCHS1 DDR2 DDRGK1 DMP1 DNAJC21 DUSP6 DYM DYNC2H1 DYNC2LI1 EIF2AK3 ENPP1 ERF EXTL3 FAT4 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FLNA FLNB FLRT3 FN1 GDF5 GJA1 GLI3 GNAS GPX4 HBB HDAC6 HESX1 HS6ST1 HSPA9 HSPG2 IARS2 IDUA IFT140 IFT172 IFT80 IHH IL17RD KCNJ8 KIF22 KIF7 KISS1R KRAS LBR LEMD3 LIFR LMX1B LONP1 LTBP3 MATN3 MMP13 NANS NEU1 NKX3-2 NLRC4 NLRP3 NOTCH2 NSMF P4HB PAM16 PAPSS2 PCYT1A PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH POLR1C POLR1D POP1 PROK2 PROKR2 PTEN PTH1R RECQL4 RMRP RNU4ATAC RPL10 RUNX2 SBDS SEC23A SEC24D SEMA3A SF3B4 SFRP4 SLC26A2 SLC39A13 SMARCAL1 SOX10 SPRY4 SRP54 STAC3 TACR3 TBXAS1 TCOF1 TGFB1 TMEM165 TMEM67 TRAPPC2 TREM2 TRIP11 TRPV4 TTC21B TYROBP UFSP2 WDR11 WDR19 WDR34 WDR35 WDR60 XYLT1

Diseases (166) :1517 2995 744 816 608776 263210 1522 478 75496 2098 1573 474 85166 90653 485 94068 2500 351 763 601390 289176 239 2343 615546 2396 93274 1860 429 90650 90652 672 57782 562 231214 800 93476 93473 63446 93360 166119 1306 3206 2614 812 1451 955 2050 912 773 861 2969 600002 221016 1452 50814 245 157965 602152 2770 2635 93283 612813 608361 607944 253200 93359 615349 271640 300106 617719 85173 614732 602271 143095 250984 604841 215150 184840 93315 93316 166011 93346 93296 85198 132450 151210 183900 616583 184250 271700 108300 614135 614134 600204 600969 93308 132400 271665 93352 602557 617052 93271 1667 226980 617425 272460 184255 218400 93317 250220 616854 436174 603546 607131 215140 600373 617809 93311 607078 608728 93356 602111 610442 613330 613320 612847 85167 608940 266500 617396 79106 50945 250250 250460 1824 616651 300998 156510 265900 93298 93307 226900 242900 255995 231095 1328 614727 93284 313400 93299 184260 93314 156530 184095 184252 617974 615777 156500 250410 260400 85165 163966 2501 250400 156400 175
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.