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:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | | | | 50 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | | | | 21 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | | | | 7 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0010311 | HP:0010311 | Aplasia/Hypoplasia of the breasts | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | HP:0040283 - Occasional | | | 10 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0010311 | HP:0100783 | Breast aplasia | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0010311 | HP:0003187 | Breast hypoplasia | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010311 | HP:0012813 | Unilateral breast hypoplasia | 2 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0010311 | HP:0012814 | Bilateral breast hypoplasia | 2 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040282 - Frequent | | | 23 | | |
HP:0010311 | HP:0012814 | Bilateral breast hypoplasia | 2 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0010311 | HP:0012814 | Bilateral breast hypoplasia | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0010311 | HP:0012813 | Unilateral breast hypoplasia | 2 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |