Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | . | | | 284 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040282 - Frequent | | | 284 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 284 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040283 - Occasional | | | 284 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 9 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | MMP9 CL E G H | 4318 | 7176 | OMIM:613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | | | | 31 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:616716 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 | | | | 99 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:2632 | Langer mesomelic dysplasia | HP:0040281 - Very frequent | | | 66 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040282 - Frequent | | | | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040283 - Occasional | | | 46 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | . | | | 214 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040283 - Occasional | | | 214 | | |
HP:0100864 | HP:0100864 | Short femoral neck | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |