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:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 5 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:35099 | Isolated brachycephaly | HP:0040282 - Frequent | | | 145 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 87 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 10 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 37 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 28 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 39 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040283 - Occasional | | | 200 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040283 - Occasional | | | 88 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 257 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 40 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 3 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 32 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | TCF12 CL E G H | 6938 | 11623 | ORPHA:35099 | Isolated brachycephaly | HP:0040282 - Frequent | | | 28 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:35099 | Isolated brachycephaly | HP:0040282 - Frequent | | | 18 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 31 | | |
HP:0009891 | HP:0009891 | Underdeveloped supraorbital ridges | 0 | ZIC1 CL E G H | 7545 | 12872 | ORPHA:35099 | Isolated brachycephaly | HP:0040282 - Frequent | | | 5 | | |