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:0000349 | HP:0000349 | Widow's peak | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000349 | HP:0000349 | Widow's peak | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |