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:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 6 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 63 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 11 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | | | | 3 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | | | | 43 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 51 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | | | | 13 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008048 | HP:0008048 | Abnormal line of Schwalbe morphology | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0008048 | HP:0007873 | Abnormally prominent line of Schwalbe | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | . | | | 32 | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008048 | HP:0000627 | Posterior embryotoxon | 1 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040283 - Occasional | | | 2 | | |