Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the femoral neck or head region (HP:0003366)help
Parent Node:
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Abnormality of the femoral neck (HP:0003367)help
..Starting node
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Coxa vara (HP:0002812)help
Term ID: 2812
Name: Coxa vara
Synonym:
Definition: Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Comments:
Reference: HP:0002812
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad femoral neck (HP:0006429) help
..expandCoxa valga (HP:0002673) help
..expandNarrow femoral neck (HP:0008819) help
..expandShort femoral neck (HP:0100864) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002812HP:0002812Coxa vara0ADAMTS2 CL E G H95091901ORPHA112577218604539
HP:0002812HP:0002812Coxa vara0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0002812HP:0002812Coxa vara0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0002812HP:0002812Coxa vara0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12816619721613165
HP:0002812HP:0002812Coxa vara0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0002812HP:0002812Coxa vara0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM16712771603400
HP:0002812HP:0002812Coxa vara0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM11721260603191
HP:0002812HP:0002812Coxa vara0COL10A1 CL E G H1300174Macrogyria, pseudobulbar palsy and mental retardationORPHA1541722185120110
HP:0002812HP:0002812Coxa vara0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM1541722185120110
HP:0002812HP:0002812Coxa vara0COL1A1 CL E G H12771899ORPHA196711052197120150
HP:0002812HP:0002812Coxa vara0COL1A2 CL E G H12781899ORPHA15237942198120160
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H128093315ORPHA15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0002812HP:0002812Coxa vara0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0002812HP:0002812Coxa vara0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM1303062379605497
HP:0002812HP:0002812Coxa vara0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0002812HP:0002812Coxa vara0DMP1 CL E G H1758289176ORPHA1111072932600980
HP:0002812HP:0002812Coxa vara0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0002812HP:0002812Coxa vara0ENPP1 CL E G H5167289176ORPHA1772743356173335
HP:0002812HP:0002812Coxa vara0EXT1 CL E G H2131133700Multiple congenital exostosis133700C0015306OMIM15324093512608177
HP:0002812HP:0002812Coxa vara0EXT2 CL E G H2132133701Multiple exostoses type 2133701C1851413OMIM12582753513608210
HP:0002812HP:0002812Coxa vara0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM14416118169607063
HP:0002812HP:0002812Coxa vara0FN1 CL E G H233593315ORPHA1261283778135600
HP:0002812HP:0002812Coxa vara0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM1261283778135600
HP:0002812HP:0002812Coxa vara0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0002812HP:0002812Coxa vara0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0002812HP:0002812Coxa vara0IHH CL E G H354963446ORPHA1331155956600726
HP:0002812HP:0002812Coxa vara0IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM1331155956600726
HP:0002812HP:0002812Coxa vara0MATN3 CL E G H4148607078Multiple epiphyseal dysplasia 5607078C1846843OMIM1281046909602109
HP:0002812HP:0002812Coxa vara0MMP13 CL E G H432293356ORPHA110957159600108
HP:0002812HP:0002812Coxa vara0MMP13 CL E G H4322602111Spondyloepimetaphyseal dysplasia, Missouri type602111C1865832OMIM110957159600108
HP:0002812HP:0002812Coxa vara0NKX3-2 CL E G H579613330Spondylo-megaepiphyseal-metaphyseal dysplasia613330C2750066OMIM1478951602183
HP:0002812HP:0002812Coxa vara0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0002812HP:0002812Coxa vara0PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0002812HP:0002812Coxa vara0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0002812HP:0002812Coxa vara0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0002812HP:0002812Coxa vara0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1142809719600414
HP:0002812HP:0002812Coxa vara0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM175030129602486
HP:0002812HP:0002812Coxa vara0PRG4 CL E G H10216208250Camptodactyly arthropathy coxa vara pericarditis syndrome208250C1859690OMIM135569364604283
HP:0002812HP:0002812Coxa vara0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA1245634016601428
HP:0002812HP:0002812Coxa vara0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0002812HP:0002812Coxa vara0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0002812HP:0002812Coxa vara0SERPINF1 CL E G H5176613982Osteogenesis imperfecta, type VI613982C3279564OMIM1441688824172860
HP:0002812HP:0002812Coxa vara0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0002812HP:0002812Coxa vara0TBX4 CL E G H9496147891Ischiopatellar dysplasia147891C1840061OMIM15913511603601719
HP:0002812HP:0002812Coxa vara0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0002812HP:0002812Coxa vara0TRAPPC2 CL E G H639993284ORPHA15726123068300202
HP:0002812HP:0002812Coxa vara0TRAPPC2 CL E G H6399313400Spondyloepiphyseal dysplasia tarda313400C3541456OMIM15726123068300202
HP:0002812HP:0002812Coxa vara0TRPV4 CL E G H5934193314ORPHA18253918083605427
HP:0002812HP:0002812Coxa vara0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM18253918083605427
HP:0002812HP:0002812Coxa vara0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12316715516608124
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002812HP:0002812Coxa vara0ATP7A CL E G H538198ORPHA0357607869300011
HP:0002812HP:0002812Coxa vara0DVL1 CL E G H18553107ORPHA0192443084601365
HP:0002812HP:0002812Coxa vara0DVL3 CL E G H18573107ORPHA015773087601368
HP:0002812HP:0002812Coxa vara0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM04416118169607063
HP:0002812HP:0002812Coxa vara0FZD2 CL E G H25353107ORPHA07304040600667
HP:0002812HP:0002812Coxa vara0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM0192253233604267
HP:0002812HP:0002812Coxa vara0RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0002812HP:0002812Coxa vara0SLC2A10 CL E G H810313342ORPHA03533913444606145
HP:0002812HP:0002812Coxa vara0UFSP2 CL E G H553252114Encephalopathy progressive optic atrophyORPHA0313425640611482
HP:0002812HP:0002812Coxa vara0WNT5A CL E G H74743107ORPHA0115812784164975


Genes (47) :ADAMTS2 ATP6V0A2 ATP7A CANT1 CCN6 CFAP410 COL10A1 COL1A1 COL1A2 COL2A1 CRTAP DDRGK1 DMP1 DNAJC21 DVL1 DVL3 ENPP1 EXT1 EXT2 FKBP10 FN1 FZD2 HSPG2 IHH MATN3 MEGF8 MMP13 NKX3-2 ORC6 PCNT PCYT1A PEX5 POP1 PRG4 RNU4ATAC RUNX2 SBDS SERPINF1 SLC2A10 SRP54 TBX4 TCIRG1 TRAPPC2 TRPV4 UFSP2 WNT5A XYLT1

Diseases (57) :1901 2834 278250 198 1425 251450 208230 602271 174 156500 1899 485 93315 93346 94068 609162 156550 183900 184250 610682 602557 289176 260400 3107 133700 133701 259450 610968 184255 800 255800 63446 607778 607078 614976 93356 602111 613330 613803 2637 210720 608940 616716 617396 208250 1824 1452 119600 613982 3342 147891 259700 93284 313400 93314 184252 2114
 

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