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:0000329 | HP:0000329 | Facial hemangioma | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 3 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | . | | | 7 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 88 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040284 - Very rare | | | 14 | | |
HP:0000329 | HP:0000329 | Facial hemangioma | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000329 | HP:0007434 | Plaque-like facial hemangioma | 1 | CL E G H | | | | | | | | | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0000329 | HP:0000996 | Facial capillary hemangioma | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0000329 | HP:0004664 | Facial midline hemangioma | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0000329 | HP:0007601 | Midline facial capillary hemangioma | 2 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000329 | HP:0007452 | Midface capillary hemangioma | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000329 | HP:0007452 | Midface capillary hemangioma | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0000329 | HP:0007601 | Midline facial capillary hemangioma | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000329 | HP:0007601 | Midline facial capillary hemangioma | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0000329 | HP:0007466 | Midfrontal capillary hemangioma | 2 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000329 | HP:0007466 | Midfrontal capillary hemangioma | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040284 - Very rare | | | 76 | | |
HP:0000329 | HP:0007452 | Midface capillary hemangioma | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |