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:0002225 | HP:0002225 | Sparse pubic hair | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0002225 | HP:0002225 | Sparse pubic hair | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |