Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | HP:0040283 - Occasional | | | 123 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 101 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 276 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | HP:0040283 - Occasional | | | 137 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 64 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 23 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 1952 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | | | | 162 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 9 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 291 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 212 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040283 - Occasional | | | 365 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS10 CL E G H | 6204 | 10383 | OMIM:613308 | Diamond-Blackfan anemia 9 | HP:0040283 - Occasional | | | 26 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | . | | | 22 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 74 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | . | | | 2 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0000465 | HP:0000465 | Webbed neck | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |