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:0009914 | HP:0009914 | Cyclopia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 200 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 22 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 3 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 17 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 172 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 48 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 2 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 173 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 45 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 665 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 99 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040284 - Very rare | | | 34 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0009914 | HP:0009914 | Cyclopia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |