Human Phenotype Ontology 
Grandparent Node:
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Abnormality of pelvic girdle bone morphology (HP:0002644)help
Parent Node:
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Abnormal hip bone morphology (HP:0003272)help
..Starting node
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Hip dysplasia (HP:0001385)help
Term ID: 1385
Name: Hip dysplasia
Synonym: Abnormal formation of the hip; Congenital hip dysplasia
Definition: The presence of developmental dysplasia of the hip.
Comments:
Reference: HP:0001385
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal hip joint morphology (HP:0001384) help
..expandAbnormal ilium morphology (HP:0002867) help
..expandAbnormality of the ischium (HP:0003174) help
..expandAbnormality of the pubic bone (HP:0003172) help
..expandArthralgia of the hip (HP:0003365) help
..expandCoxa magna (HP:0003279) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001385HP:0001385Hip dysplasia0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0001385HP:0001385Hip dysplasia0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0001385HP:0001385Hip dysplasia0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0001385HP:0001385Hip dysplasia0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0001385HP:0001385Hip dysplasia0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001385HP:0001385Hip dysplasia0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001385HP:0001385Hip dysplasia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001385HP:0001385Hip dysplasia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001385HP:0001385Hip dysplasia0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0001385HP:0001385Hip dysplasia0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0001385HP:0001385Hip dysplasia0ATR CL E G H545808Baker Vinters syndromeORPHA11007882601215
HP:0001385HP:0001385Hip dysplasia0ATR CL E G H545808Baker Vinters syndromeORPHA1755882601215
HP:0001385HP:0001385Hip dysplasia0ATRIP CL E G H84126808Baker Vinters syndromeORPHA133333499606605
HP:0001385HP:0001385Hip dysplasia0ATRIP CL E G H84126808Baker Vinters syndromeORPHA123933499606605
HP:0001385HP:0001385Hip dysplasia0CCDC47 CL E G H57003618268618268618268OMIM123248560
HP:0001385HP:0001385Hip dysplasia0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0001385HP:0001385Hip dysplasia0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0001385HP:0001385Hip dysplasia0CENPE CL E G H1062808Baker Vinters syndromeORPHA12621856117143
HP:0001385HP:0001385Hip dysplasia0CENPE CL E G H1062808Baker Vinters syndromeORPHA12521856117143
HP:0001385HP:0001385Hip dysplasia0CENPJ CL E G H55835808Baker Vinters syndromeORPHA139917272609279
HP:0001385HP:0001385Hip dysplasia0CENPJ CL E G H55835808Baker Vinters syndromeORPHA134717272609279
HP:0001385HP:0001385Hip dysplasia0CEP152 CL E G H22995808Baker Vinters syndromeORPHA140429298613529
HP:0001385HP:0001385Hip dysplasia0CEP152 CL E G H22995808Baker Vinters syndromeORPHA133429298613529
HP:0001385HP:0001385Hip dysplasia0COL1A1 CL E G H12771899ORPHA116552197120150
HP:0001385HP:0001385Hip dysplasia0COL1A1 CL E G H12771899ORPHA113972197120150
HP:0001385HP:0001385Hip dysplasia0COL1A2 CL E G H12781899ORPHA112032198120160
HP:0001385HP:0001385Hip dysplasia0COL1A2 CL E G H12781899ORPHA110422198120160
HP:0001385HP:0001385Hip dysplasia0COL9A1 CL E G H1297166002ORPHA17442217120210
HP:0001385HP:0001385Hip dysplasia0COL9A1 CL E G H1297166002ORPHA15942217120210
HP:0001385HP:0001385Hip dysplasia0COL9A2 CL E G H1298166002ORPHA14792218120260
HP:0001385HP:0001385Hip dysplasia0COL9A2 CL E G H1298166002ORPHA13362218120260
HP:0001385HP:0001385Hip dysplasia0COL9A3 CL E G H1299166002ORPHA17032219120270
HP:0001385HP:0001385Hip dysplasia0COL9A3 CL E G H1299166002ORPHA14642219120270
HP:0001385HP:0001385Hip dysplasia0COMP CL E G H131193308ORPHA13752227600310
HP:0001385HP:0001385Hip dysplasia0COMP CL E G H131193308ORPHA12872227600310
HP:0001385HP:0001385Hip dysplasia0GDF5 CL E G H820063442ORPHA11494220601146
HP:0001385HP:0001385Hip dysplasia0GDF5 CL E G H820063442ORPHA11244220601146
HP:0001385HP:0001385Hip dysplasia0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM14517493602842
HP:0001385HP:0001385Hip dysplasia0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM13917493602842
HP:0001385HP:0001385Hip dysplasia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0001385HP:0001385Hip dysplasia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0001385HP:0001385Hip dysplasia0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0001385HP:0001385Hip dysplasia0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0001385HP:0001385Hip dysplasia0INPP5K CL E G H51763559ORPHA115333882607875
HP:0001385HP:0001385Hip dysplasia0INPP5K CL E G H51763559ORPHA114533882607875
HP:0001385HP:0001385Hip dysplasia0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM14914361606195
HP:0001385HP:0001385Hip dysplasia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0001385HP:0001385Hip dysplasia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0001385HP:0001385Hip dysplasia0MATN3 CL E G H414893311ORPHA11646909602109
HP:0001385HP:0001385Hip dysplasia0MATN3 CL E G H414893311ORPHA11386909602109
HP:0001385HP:0001385Hip dysplasia0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11887159600108
HP:0001385HP:0001385Hip dysplasia0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11527159600108
HP:0001385HP:0001385Hip dysplasia0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM119414906608684
HP:0001385HP:0001385Hip dysplasia0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM121614906608684
HP:0001385HP:0001385Hip dysplasia0PCNT CL E G H5116808Baker Vinters syndromeORPHA1136116068605925
HP:0001385HP:0001385Hip dysplasia0PCNT CL E G H5116808Baker Vinters syndromeORPHA1112616068605925
HP:0001385HP:0001385Hip dysplasia0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM167226270613629
HP:0001385HP:0001385Hip dysplasia0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM170926270613629
HP:0001385HP:0001385Hip dysplasia0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0001385HP:0001385Hip dysplasia0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0001385HP:0001385Hip dysplasia0PLK4 CL E G H10733808Baker Vinters syndromeORPHA133911397605031
HP:0001385HP:0001385Hip dysplasia0PLK4 CL E G H10733808Baker Vinters syndromeORPHA121911397605031
HP:0001385HP:0001385Hip dysplasia0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA12119891604124
HP:0001385HP:0001385Hip dysplasia0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA11579891604124
HP:0001385HP:0001385Hip dysplasia0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM138529242613293
HP:0001385HP:0001385Hip dysplasia0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM134129242613293
HP:0001385HP:0001385Hip dysplasia0SHPK CL E G H23729440713ORPHA11451492605060
HP:0001385HP:0001385Hip dysplasia0SHPK CL E G H23729440713ORPHA11031492605060
HP:0001385HP:0001385Hip dysplasia0SIL1 CL E G H64374559ORPHA121724624608005
HP:0001385HP:0001385Hip dysplasia0SIL1 CL E G H64374559ORPHA120624624608005
HP:0001385HP:0001385Hip dysplasia0SLC26A2 CL E G H1836628ORPHA149210994606718
HP:0001385HP:0001385Hip dysplasia0SLC26A2 CL E G H1836628ORPHA143210994606718
HP:0001385HP:0001385Hip dysplasia0SLC26A2 CL E G H1836226900Multiple epiphyseal dysplasia 4226900C1847593OMIM149210994606718
HP:0001385HP:0001385Hip dysplasia0SLC26A2 CL E G H1836226900Multiple epiphyseal dysplasia 4226900C1847593OMIM143210994606718
HP:0001385HP:0001385Hip dysplasia0TBX4 CL E G H94961509Connective tissue dysplasia Spellacy typeORPHA123411603601719
HP:0001385HP:0001385Hip dysplasia0TBX4 CL E G H94961509Connective tissue dysplasia Spellacy typeORPHA116111603601719
HP:0001385HP:0001385Hip dysplasia0TRAIP CL E G H10293808Baker Vinters syndromeORPHA14730764605958
HP:0001385HP:0001385Hip dysplasia0TRAIP CL E G H10293808Baker Vinters syndromeORPHA14630764605958
HP:0001385HP:0001385Hip dysplasia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0001385HP:0001385Hip dysplasia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0001385HP:0001385Hip dysplasia0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0001385HP:0001385Hip dysplasia0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0001385HP:0001385Hip dysplasia0UFSP2 CL E G H55325142669Beukes hip dysplasia142669C1840572OMIM113925640611482
HP:0001385HP:0001385Hip dysplasia0UFSP2 CL E G H55325142669Beukes hip dysplasia142669C1840572OMIM113825640611482
HP:0001385HP:0001385Hip dysplasia0UFSP2 CL E G H553252114Encephalopathy progressive optic atrophyORPHA113925640611482
HP:0001385HP:0001385Hip dysplasia0UFSP2 CL E G H553252114Encephalopathy progressive optic atrophyORPHA113825640611482
HP:0001385HP:0001385Hip dysplasia0UMPS CL E G H737230ORPHA124612563613891
HP:0001385HP:0001385Hip dysplasia0UMPS CL E G H737230ORPHA124012563613891
HP:0001385HP:0001385Hip dysplasia0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001385HP:0001385Hip dysplasia0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001385HP:0001385Hip dysplasia0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001385HP:0001385Hip dysplasia0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001385HP:0001385Hip dysplasia0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM164218340608151
HP:0001385HP:0001385Hip dysplasia0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM147718340608151
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001385HP:0001385Hip dysplasia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0118421316611192
HP:0001385HP:0001385Hip dysplasia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0110121316611192
HP:0001385HP:0001385Hip dysplasia0ATAD3A CL E G H55210496790ORPHA026425567612316
HP:0001385HP:0001385Hip dysplasia0ATAD3A CL E G H55210496790ORPHA025025567612316
HP:0001385HP:0001385Hip dysplasia0ATP7A CL E G H538198ORPHA01003869300011
HP:0001385HP:0001385Hip dysplasia0ATP7A CL E G H538198ORPHA0897869300011
HP:0001385HP:0001385Hip dysplasia0BICD2 CL E G H23299363454ORPHA050617208609797
HP:0001385HP:0001385Hip dysplasia0BICD2 CL E G H23299363454ORPHA044517208609797
HP:0001385HP:0001385Hip dysplasia0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0001385HP:0001385Hip dysplasia0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0001385HP:0001385Hip dysplasia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM01632309605032
HP:0001385HP:0001385Hip dysplasia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM01512309605032
HP:0001385HP:0001385Hip dysplasia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM01742494602618
HP:0001385HP:0001385Hip dysplasia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM01872494602618
HP:0001385HP:0001385Hip dysplasia0DVL1 CL E G H18553107ORPHA04083084601365
HP:0001385HP:0001385Hip dysplasia0DVL1 CL E G H18553107ORPHA03473084601365
HP:0001385HP:0001385Hip dysplasia0DVL3 CL E G H18573107ORPHA01413087601368
HP:0001385HP:0001385Hip dysplasia0DVL3 CL E G H18573107ORPHA01123087601368
HP:0001385HP:0001385Hip dysplasia0EBP CL E G H1068235173ORPHA02863133300205
HP:0001385HP:0001385Hip dysplasia0EBP CL E G H1068235173ORPHA02653133300205
HP:0001385HP:0001385Hip dysplasia0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA06483512608177
HP:0001385HP:0001385Hip dysplasia0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA05243512608177
HP:0001385HP:0001385Hip dysplasia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM02673693605830
HP:0001385HP:0001385Hip dysplasia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM02143693605830
HP:0001385HP:0001385Hip dysplasia0FZD2 CL E G H25353107ORPHA0544040600667
HP:0001385HP:0001385Hip dysplasia0FZD2 CL E G H25353107ORPHA0374040600667
HP:0001385HP:0001385Hip dysplasia0GABRD CL E G H25631606ORPHA03614084137163
HP:0001385HP:0001385Hip dysplasia0GABRD CL E G H25631606ORPHA03404084137163
HP:0001385HP:0001385Hip dysplasia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA028713315300269
HP:0001385HP:0001385Hip dysplasia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA026913315300269
HP:0001385HP:0001385Hip dysplasia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM06224868605837
HP:0001385HP:0001385Hip dysplasia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM06024868605837
HP:0001385HP:0001385Hip dysplasia0HOXA11 CL E G H320771289ORPHA0485101142958
HP:0001385HP:0001385Hip dysplasia0HOXA11 CL E G H320771289ORPHA0475101142958
HP:0001385HP:0001385Hip dysplasia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03186109601491
HP:0001385HP:0001385Hip dysplasia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03176109601491
HP:0001385HP:0001385Hip dysplasia0KCNAB2 CL E G H85141606ORPHA0916229601142
HP:0001385HP:0001385Hip dysplasia0KCNAB2 CL E G H85141606ORPHA0886229601142
HP:0001385HP:0001385Hip dysplasia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA09747132159555
HP:0001385HP:0001385Hip dysplasia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA06737132159555
HP:0001385HP:0001385Hip dysplasia0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM01886556604407
HP:0001385HP:0001385Hip dysplasia0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM02286556604407
HP:0001385HP:0001385Hip dysplasia0LMNA CL E G H400079474ORPHA014866636150330
HP:0001385HP:0001385Hip dysplasia0LMNA CL E G H400079474ORPHA013476636150330
HP:0001385HP:0001385Hip dysplasia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM05806814605283
HP:0001385HP:0001385Hip dysplasia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM05576814605283
HP:0001385HP:0001385Hip dysplasia0MBD5 CL E G H55777228402ORPHA099320444611472
HP:0001385HP:0001385Hip dysplasia0MBD5 CL E G H55777228402ORPHA087820444611472
HP:0001385HP:0001385Hip dysplasia0MECOM CL E G H212271289ORPHA0803498165215
HP:0001385HP:0001385Hip dysplasia0MECOM CL E G H212271289ORPHA0603498165215
HP:0001385HP:0001385Hip dysplasia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM03447114603856
HP:0001385HP:0001385Hip dysplasia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM03417114603856
HP:0001385HP:0001385Hip dysplasia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0001385HP:0001385Hip dysplasia0MYH7 CL E G H4625324604ORPHA032927577160760
HP:0001385HP:0001385Hip dysplasia0MYH7 CL E G H4625324604ORPHA029607577160760
HP:0001385HP:0001385Hip dysplasia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM03267675602117
HP:0001385HP:0001385Hip dysplasia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM03217675602117
HP:0001385HP:0001385Hip dysplasia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0106928862608667
HP:0001385HP:0001385Hip dysplasia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0100328862608667
HP:0001385HP:0001385Hip dysplasia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03491190610922
HP:0001385HP:0001385Hip dysplasia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03511190610922
HP:0001385HP:0001385Hip dysplasia0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM026212766602952
HP:0001385HP:0001385Hip dysplasia0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM024912766602952
HP:0001385HP:0001385Hip dysplasia0PRDM16 CL E G H639761606ORPHA098614000605557
HP:0001385HP:0001385Hip dysplasia0PRDM16 CL E G H639761606ORPHA088614000605557
HP:0001385HP:0001385Hip dysplasia0PRDM5 CL E G H1110790354ORPHA02169349614161
HP:0001385HP:0001385Hip dysplasia0PRDM5 CL E G H1110790354ORPHA01979349614161
HP:0001385HP:0001385Hip dysplasia0PUF60 CL E G H22827508488ORPHA016317042604819
HP:0001385HP:0001385Hip dysplasia0PUF60 CL E G H22827508488ORPHA015117042604819
HP:0001385HP:0001385Hip dysplasia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031930089600161
HP:0001385HP:0001385Hip dysplasia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031730089600161
HP:0001385HP:0001385Hip dysplasia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032833235611215
HP:0001385HP:0001385Hip dysplasia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032933235611215
HP:0001385HP:0001385Hip dysplasia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA02549811606462
HP:0001385HP:0001385Hip dysplasia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA02399811606462
HP:0001385HP:0001385Hip dysplasia0RERE CL E G H4731606ORPHA02579965605226
HP:0001385HP:0001385Hip dysplasia0RERE CL E G H4731606ORPHA02299965605226
HP:0001385HP:0001385Hip dysplasia0SELENON CL E G H57190324604ORPHA050515999606210
HP:0001385HP:0001385Hip dysplasia0SELENON CL E G H57190324604ORPHA045415999606210
HP:0001385HP:0001385Hip dysplasia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA049225566615743
HP:0001385HP:0001385Hip dysplasia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA041825566615743
HP:0001385HP:0001385Hip dysplasia0SKI CL E G H64971606ORPHA068610896164780
HP:0001385HP:0001385Hip dysplasia0SKI CL E G H64971606ORPHA062910896164780
HP:0001385HP:0001385Hip dysplasia0SLC2A10 CL E G H810313342ORPHA042413444606145
HP:0001385HP:0001385Hip dysplasia0SLC2A10 CL E G H810313342ORPHA039213444606145
HP:0001385HP:0001385Hip dysplasia0SLC35A3 CL E G H23443370943ORPHA017311023605632
HP:0001385HP:0001385Hip dysplasia0SLC35A3 CL E G H23443370943ORPHA016011023605632
HP:0001385HP:0001385Hip dysplasia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA069011111300040
HP:0001385HP:0001385Hip dysplasia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA063511111300040
HP:0001385HP:0001385Hip dysplasia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA03222468606062
HP:0001385HP:0001385Hip dysplasia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA03112468606062
HP:0001385HP:0001385Hip dysplasia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM032133020609837
HP:0001385HP:0001385Hip dysplasia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031933020609837
HP:0001385HP:0001385Hip dysplasia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM032033067605436
HP:0001385HP:0001385Hip dysplasia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM032133067605436
HP:0001385HP:0001385Hip dysplasia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM039811164182279
HP:0001385HP:0001385Hip dysplasia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM039711164182279
HP:0001385HP:0001385Hip dysplasia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM032111535313650
HP:0001385HP:0001385Hip dysplasia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM030211535313650
HP:0001385HP:0001385Hip dysplasia0TBX4 CL E G H9496238578ORPHA023411603601719
HP:0001385HP:0001385Hip dysplasia0TBX4 CL E G H9496238578ORPHA016111603601719
HP:0001385HP:0001385Hip dysplasia0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA033612340604386
HP:0001385HP:0001385Hip dysplasia0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA027012340604386
HP:0001385HP:0001385Hip dysplasia0TTN CL E G H7273324604ORPHA01902812403188840
HP:0001385HP:0001385Hip dysplasia0TTN CL E G H7273324604ORPHA01798412403188840
HP:0001385HP:0001385Hip dysplasia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM051412632300072
HP:0001385HP:0001385Hip dysplasia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM049312632300072
HP:0001385HP:0001385Hip dysplasia0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0001385HP:0001385Hip dysplasia0WNT5A CL E G H74743107ORPHA010712784164975
HP:0001385HP:0001385Hip dysplasia0WNT5A CL E G H74743107ORPHA09212784164975
HP:0001385HP:0001385Hip dysplasia0ZNF469 CL E G H8462790354ORPHA0119023216612078
HP:0001385HP:0001385Hip dysplasia0ZNF469 CL E G H8462790354ORPHA091623216612078


Genes (100) :ADAMTS2 ANKRD11 AP3B1 ARSB ATAD3A ATP6V1E1 ATP7A ATR ATRIP BICD2 CCDC47 CCDC8 CENPE CENPJ CEP152 COL1A1 COL1A2 COL9A1 COL9A2 COL9A3 COMP CPLX1 CTBP1 DVL1 DVL3 EBP EXT1 FGFRL1 FZD2 GABRD GDF5 GMNN HDAC8 HERC2 HNRNPK HOXA11 HSPG2 INPP5K IPW IRX5 KANSL1 KCNAB2 KMT2A LETM1 LMNA MAGEL2 MATN3 MBD5 MECOM MKRN3 MKRN3-AS1 MMP13 MYH7 NDN NIN NIPBL NPAP1 NSD2 PCNT PIEZO2 PIGY PLK4 PRDM16 PRDM5 PUF60 PWAR1 PWRN1 RAD21 RBBP8 RERE SELENON SETD5 SH3PXD2B SHPK SIL1 SKI SLC26A2 SLC2A10 SLC35A3 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN TAF1 TBX4 TRAIP TRAPPC11 TRPS1 TRPV4 TTN UFSP2 UMPS USP9X VIPAS39 VPS33B WDR19 WHCR WNT5A ZNF469

Diseases (59) :1901 261250 608233 253200 496790 617183 617402 198 808 363454 615290 618268 614205 1899 166002 93308 194190 3107 35173 502 1606 63442 616835 199 176270 616580 71289 800 559 611174 610443 79474 93311 228402 2501 324604 614851 617146 616809 90354 508488 249420 440713 628 226900 3342 370943 300966 238578 1509 615356 181405 142669 2114 30 300968 613404 208085 614378
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.