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:0000457 | HP:0000457 | Depressed nasal ridge | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040284 - Very rare | | | 4 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 115 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040281 - Very frequent | | | 27 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040281 - Very frequent | | | 35 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | . | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 4 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040284 - Very rare | | | 563 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 572 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040281 - Very frequent | | | 104 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040281 - Very frequent | | | 7 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000457 | HP:0000457 | Depressed nasal ridge | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |