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:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040283 - Occasional | | | 284 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 36 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040282 - Frequent | | | | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 2 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | | | | 175 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 7 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 64 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 5 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | | | | 22 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 9 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0002949 | HP:0002949 | Fused cervical vertebrae | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0002949 | HP:0004575 | Fusion of midcervical facet joints | 1 | CL E G H | | | | | | | | | | |
HP:0002949 | HP:0008449 | Progressive cervical vertebral spine fusion | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040282 - Frequent | | | | | |
HP:0002949 | HP:0004635 | Cervical C5/C6 vertebrae fusion | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0002949 | HP:0004635 | Cervical C5/C6 vertebrae fusion | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002949 | HP:0004635 | Cervical C5/C6 vertebrae fusion | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | . | | | 7 | | |
HP:0002949 | HP:0030281 | Cervical C3/C4 vertebral fusion | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 64 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0002949 | HP:0004602 | Cervical C2/C3 vertebral fusion | 1 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |