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:0012733 | HP:0012733 | Macule | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:241 | Dyschromatosis universalis hereditaria | HP:0040281 - Very frequent | | | 20 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | | | | 20 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ADAR CL E G H | 103 | 225 | ORPHA:41 | Dyschromatosis symmetrica hereditaria | HP:0040281 - Very frequent | | | 116 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ADAR CL E G H | 103 | 225 | OMIM:127400 | Dyschromatosis symmetrica hereditaria 1 | | | | 116 | | |
HP:0012733 | HP:0012733 | Macule | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0012733 | HP:0012733 | Macule | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | | | | 3179 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | HP:0040283 - Occasional | | | 86 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | | | | 86 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 276 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:605724 | Fanconi anemia, complementation group D1 | | | | 7642 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0012733 | HP:0012733 | Macule | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 15 | | |
HP:0012733 | HP:0012733 | Macule | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 7 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0012733 | HP:0012733 | Macule | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0012733 | HP:0012733 | Macule | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012733 | HP:0012733 | Macule | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0012733 | HP:0012733 | Macule | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0012733 | HP:0012733 | Macule | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0012733 | HP:0012733 | Macule | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0012733 | HP:0012733 | Macule | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0012733 | HP:0012733 | Macule | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:1955 | Spinocerebellar ataxia type 34 | HP:0040281 - Very frequent | | | 62 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0012733 | HP:0012733 | Macule | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0012733 | HP:0012733 | Macule | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040283 - Occasional | | | 3 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0012733 | HP:0012733 | Macule | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | | | | 145 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 68 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 74 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 12 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | | | | 7 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | | | | 101 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | HP:0040283 - Occasional | | | 101 | | |
HP:0012733 | HP:0012733 | Macule | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | GPNMB CL E G H | 10457 | 4462 | OMIM:617920 | Amyloidosis, primary localized cutaneous, 3 | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:148000 | Kaposi sarcoma, susceptibility to | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | | | | 327 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040282 - Frequent | | | 327 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | | | | 110 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 110 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | | | | 173 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | | | | 173 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0012733 | HP:0012733 | Macule | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0012733 | HP:0012733 | Macule | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0012733 | HP:0012733 | Macule | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0012733 | HP:0012733 | Macule | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | | | | 178 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | | | | 68 | | |
HP:0012733 | HP:0012733 | Macule | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0012733 | HP:0012733 | Macule | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | | | | 1349 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | | | | 759 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0012733 | HP:0012733 | Macule | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | POFUT1 CL E G H | 23509 | 14988 | OMIM:615327 | Dowling-Degos disease 2 | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | | | | 6 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0012733 | Macule | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 291 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 212 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040283 - Occasional | | | 88 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0012733 | HP:0012733 | Macule | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0012733 | HP:0012733 | Macule | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:127500 | Dyschromatosis universalis hereditaria | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | | | | 143 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040282 - Frequent | | | 19 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | | | | 136 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | | | | 47 | | |
HP:0012733 | HP:0012733 | Macule | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0012733 | HP:0012733 | Macule | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040281 - Very frequent | | | 740 | | |
HP:0012733 | HP:0012733 | Macule | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 10 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 4 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | | | | 7 | | |
HP:0012733 | HP:0012733 | Macule | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0012733 | HP:0012733 | Macule | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0012733 | HP:0012733 | Macule | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0012733 | HP:0012733 | Macule | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012733 | HP:0012733 | Macule | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0012733 | HP:0012733 | Macule | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0012733 | HP:0012733 | Macule | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0012733 | HP:0012733 | Macule | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0012733 | HP:0012733 | Macule | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0012733 | HP:0012733 | Macule | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0012733 | HP:0012733 | Macule | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ABCB6 CL E G H | 10058 | 47 | ORPHA:241 | Dyschromatosis universalis hereditaria | HP:0040281 - Very frequent | | | 20 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ABCB6 CL E G H | 10058 | 47 | OMIM:615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | | | | 20 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | ABCB6 CL E G H | 10058 | 47 | OMIM:615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | | | | 20 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0012733 | HP:0007441 | Hyperpigmented/hypopigmented macules | 1 | ADAR CL E G H | 103 | 225 | OMIM:127400 | Dyschromatosis symmetrica hereditaria 1 | . | | | 116 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | | | | 3179 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | HP:0040281 - Very frequent | | | 86 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | HP:0040283 - Occasional | | | 86 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 276 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:605724 | Fanconi anemia, complementation group D1 | | | | 7642 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 68 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 74 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 12 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | HP:0040281 - Very frequent | | | 7 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | | | | 101 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | HP:0040283 - Occasional | | | 101 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | GPNMB CL E G H | 10457 | 4462 | OMIM:617920 | Amyloidosis, primary localized cutaneous, 3 | . | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:148000 | Kaposi sarcoma, susceptibility to | . | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 4 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | HP:0040283 - Occasional | | | 327 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | . | | | 327 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | | | | 110 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 110 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 110 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 110 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | | | | 173 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 173 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040284 - Very rare | | | 173 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 173 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0012733 | HP:0007441 | Hyperpigmented/hypopigmented macules | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 173 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | | | | 178 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | | | | 68 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | | | | 1349 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 13 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0012733 | HP:0007441 | Hyperpigmented/hypopigmented macules | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | HP:0040282 - Frequent | | | 759 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | HP:0040282 - Frequent | | | 759 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040284 - Very rare | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | POFUT1 CL E G H | 23509 | 14988 | OMIM:615327 | Dowling-Degos disease 2 | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040284 - Very rare | | | 6 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 134 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0012733 | HP:0025475 | Erythematous macule | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040284 - Very rare | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 291 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 212 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0012733 | HP:0007441 | Hyperpigmented/hypopigmented macules | 1 | SASH1 CL E G H | 23328 | 19182 | OMIM:127500 | Dyschromatosis universalis hereditaria | . | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | | | | 143 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | | | | 136 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 10 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 4 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0012733 | HP:0020073 | Hypopigmented macule | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | | | | 7 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0012733 | HP:0001034 | Hypermelanotic macule | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ABCB6 CL E G H | 10058 | 47 | ORPHA:241 | Dyschromatosis universalis hereditaria | | | | 20 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRCA2 CL E G H | 675 | 1101 | OMIM:605724 | Fanconi anemia, complementation group D1 | | | | 7642 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BRIP1 CL E G H | 83990 | 20473 | OMIM:609054 | FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ | | | | 1086 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0012733 | HP:0007412 | Macular hyperpigmented dermopathy | 2 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 291 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040282 - Frequent | | | 13 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 250 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | . | | | 53 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040281 - Very frequent | | | 101 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040281 - Very frequent | | | 23 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 110 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 110 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 173 | | |
HP:0012733 | HP:0009719 | Hypomelanotic macule | 2 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 173 | | |
HP:0012733 | HP:0007494 | Discrete 2 to 5-mm hyper- and hypopigmented macules | 2 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | | | | 178 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0012733 | HP:0001003 | Multiple lentigines | 2 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0012733 | HP:0005605 | Large cafe-au-lait macules with irregular margins | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0012733 | HP:0007449 | Confetti-like hypopigmented macules | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040281 - Very frequent | | | 1952 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | . | | | 1952 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0012733 | HP:0000957 | Cafe-au-lait spot | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 |