Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2760 | 34 | 601691 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 247 | 48 | 300135 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1220 | 61 | 300371 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AFF2 CL E G H | 2334 | 309548 | FRAXE | 309548 | C0751157 | OMIM | 1 | | 366 | 3776 | 300806 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AIFM1 CL E G H | 9131 | 310490 | Cowchock syndrome | 310490 | C0795910 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AIFM1 CL E G H | 9131 | 300614 | Deafness, X-linked 5 | 300614 | C1845095 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ALAS2 CL E G H | 212 | 300751 | Hereditary sideroblastic anemia | 300751 | C0221018 | OMIM | 1 | | 294 | 397 | 301300 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 1 | | 803 | 30881 | 300776 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 197 | 467 | 300195 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 426 | 6211 | 300836 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 218 | 560 | 300629 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AR CL E G H | 367 | 300068 | Androgen resistance syndrome | 300068 | C0039585 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AR CL E G H | 367 | 300633 | Hypospadias 1, X-linked | 300633 | C2678098 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARX CL E G H | 170302 | 300419 | Mental retardation, with or without seizures, ARX-related, X-linked | 300419 | C0796244 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 301 | 816 | 300014 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 319 | 868 | 300197 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1544 | 886 | 300032 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | | 383 | 897 | 300538 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AVPR2 CL E G H | 554 | 300539 | Nephrogenic syndrome of inappropriate antidiuresis | 300539 | C1845202 | OMIM | 1 | | 383 | 897 | 300538 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 308 | 16695 | 300398 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | BGN CL E G H | 633 | 300106 | Spondyloepimetaphyseal dysplasia X-linked | 300106 | C1848097 | OMIM | 1 | | 394 | 1044 | 301870 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | BRWD3 CL E G H | 254065 | 300659 | Mental retardation, X-linked 93 | 300659 | C1970841 | OMIM | 1 | | 519 | 17342 | 300553 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | BTK CL E G H | 695 | 300755 | X-linked agammaglobulinemia | 300755 | C0221026 | OMIM | 1 | | 581 | 1133 | 300300 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | BTK CL E G H | 695 | 307200 | X-linked agammaglobulinemia with growth hormone deficiency | 307200 | C0472813 | OMIM | 1 | | 581 | 1133 | 300300 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CACNA1F CL E G H | 778 | 300476 | Cone-rod dystrophy X-linked 3 | 300476 | C1845407 | OMIM | 1 | | 954 | 1393 | 300110 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CASK CL E G H | 8573 | 300908 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 300908 | C2720289 | OMIM | 1 | | 706 | 1497 | 300172 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CCDC22 CL E G H | 28952 | 300963 | Ritscher-schinzel syndrome 2 | 300963 | C4225419 | OMIM | 1 | | 252 | 28909 | 300859 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 339 | 11935 | 300386 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CFP CL E G H | 5199 | 312060 | Properdin deficiency, X-linked | 312060 | C1839454 | OMIM | 1 | | 223 | 8864 | 300383 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CHRDL1 CL E G H | 91851 | 309300 | Megalocornea | 309300 | C0344530 | OMIM | 1 | | 200 | 29861 | 300350 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLCN4 CL E G H | 1183 | 300114 | Mental retardation 49, X-linked | 300114 | C3887959 | OMIM | 1 | | 591 | 2022 | 302910 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLCN5 CL E G H | 1184 | 300009 | Dent disease 1 | 300009 | C1848336 | OMIM | 1 | | 435 | 2023 | 300008 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLCN5 CL E G H | 1184 | 300554 | Hypophosphatemic rickets, X-linked recessive | 300554 | C1845168 | OMIM | 1 | | 435 | 2023 | 300008 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLCN5 CL E G H | 1184 | 308990 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 308990 | C1839874 | OMIM | 1 | | 435 | 2023 | 300008 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLCN5 CL E G H | 1184 | 310468 | X-linked recessive nephrolithiasis with renal failure | 310468 | C0403720 | OMIM | 1 | | 435 | 2023 | 300008 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 1 | | 259 | 2063 | 300138 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | COL4A6 CL E G H | 1288 | 300914 | Deafness, X-linked 6 | 300914 | C3806737 | OMIM | 1 | | 409 | 2208 | 303631 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CYBB CL E G H | 1536 | 300645 | Atypical mycobacteriosis, familial, X-linked 2 | 300645 | C1970859 | OMIM | 1 | | 639 | 2578 | 300481 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CYBB CL E G H | 1536 | 306400 | Chronic granulomatous disease, X-linked | 306400 | C1844376 | OMIM | 1 | | 639 | 2578 | 300481 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 1 | | 602 | 2745 | 300160 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | DLG3 CL E G H | 1741 | 300850 | X-Linked mental retardation 90 | 300850 | C3275443 | OMIM | 1 | | 267 | 2902 | 300189 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | DMD CL E G H | 1756 | 300376 | Becker muscular dystrophy | 300376 | C0917713 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | EDA CL E G H | 1896 | 305100 | Hypohidrotic X-linked ectodermal dysplasia | 305100 | C0162359 | OMIM | 1 | | 529 | 3157 | 300451 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | EMD CL E G H | 2010 | 310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | 310300 | C0751337 | OMIM | 1 | | 618 | 3331 | 300384 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | F8 CL E G H | 2157 | 306700 | Hereditary factor VIII deficiency disease | 306700 | C0019069 | OMIM | 1 | | 952 | 3546 | 300841 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 582 | 3551 | 300746 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FANCB CL E G H | 2187 | 300514 | Fanconi anemia, complementation group B | 300514 | C1845292 | OMIM | 1 | | 516 | 3583 | 300515 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 516 | 3583 | 300515 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 346 | 3663 | 300546 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FGF16 CL E G H | 8823 | 309630 | Metacarpal 4-5 fusion | 309630 | C1839728 | OMIM | 1 | | 147 | 3672 | 300827 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FLNA CL E G H | 2316 | 314400 | Cardiac valvular dysplasia, X-linked | 314400 | C0262436 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FLNA CL E G H | 2316 | 305620 | Frontometaphyseal dysplasia | 305620 | C0265293 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FLNA CL E G H | 2316 | 300048 | Intestinal pseudoobstruction neuronal chronic idiopathic X-linked | 300048 | C2746068 | OMIM | 1 | | 2538 | 3754 | 300017 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 376 | 6106 | 300292 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FRMD7 CL E G H | 90167 | 310700 | Infantile nystagmus, X-linked | 310700 | C1839580 | OMIM | 1 | | 429 | 8079 | 300628 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 352 | 29007 | 300838 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 226 | 13254 | 300499 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | G6PD CL E G H | 2539 | 300908 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 300908 | C2720289 | OMIM | 1 | | 722 | 4057 | 305900 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 329 | 4170 | 305371 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GATA1 CL E G H | 2623 | 300367 | GATA-1-related thrombocytopenia with dyserythropoiesis | 300367 | C1845837 | OMIM | 1 | | 329 | 4170 | 305371 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GATA1 CL E G H | 2623 | 314050 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis | 314050 | C1839161 | OMIM | 1 | | 329 | 4170 | 305371 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GJB2 CL E G H | 2706 | 304400 | Deafness, X-linked 2 | 304400 | C1844678 | OMIM | 1 | | 516 | 4284 | 121011 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GJB6 CL E G H | 10804 | 304400 | Deafness, X-linked 2 | 304400 | C1844678 | OMIM | 1 | | 235 | 4288 | 604418 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 855 | 4451 | 300037 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 214 | 4452 | 300168 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GPR179 CL E G H | 440435 | 614565 | Congenital stationary night blindness, type 1E | 614565 | C3281215 | OMIM | 1 | | 852 | 31371 | 614515 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 1 | | 455 | 4573 | 305915 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | HCFC1 CL E G H | 3054 | 309541 | Mental retardation 3, X-linked | 309541 | C0796208 | OMIM | 1 | | 686 | 4839 | 300019 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 327 | 5157 | 308000 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | HPRT1 CL E G H | 3251 | 300323 | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 300323 | C0268117 | OMIM | 1 | | 327 | 5157 | 308000 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IGBP1 CL E G H | 3476 | 300472 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 300472 | C1845446 | OMIM | 1 | | 151 | 5461 | 300139 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IGF2 CL E G H | 3481 | 616489 | Growth restriction, severe, with distinctive facies | 616489 | C4225307 | OMIM | 1 | | 98 | 5466 | 147470 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IGSF1 CL E G H | 3547 | 300888 | Hypothyroidism, central, and testicular enlargement | 300888 | C3550963 | OMIM | 1 | | 252 | 5948 | 300137 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IKBKG CL E G H | 8517 | 300636 | Familial atypical mycobacteriosis, type 1, X-linked | 300636 | C1970879 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IKBKG CL E G H | 8517 | 300291 | Hypohidrotic ectodermal dysplasia with immune deficiency | 300291 | C1846006 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IKBKG CL E G H | 8517 | 300584 | Immunodeficiency without anhidrotic ectodermal dysplasia | 300584 | C1845117 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IL1RAPL1 CL E G H | 11141 | 300143 | Mental retardation 21, X-linked | 300143 | C0796227 | OMIM | 1 | | 346 | 5996 | 300206 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IL2RG CL E G H | 3561 | 312863 | Combined immunodeficiency, X-linked | 312863 | C1706416 | OMIM | 1 | | 452 | 6010 | 308380 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IL2RG CL E G H | 3561 | 300400 | X-linked severe combined immunodeficiency | 300400 | C1279481 | OMIM | 1 | | 452 | 6010 | 308380 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | IQSEC2 CL E G H | 23096 | 309530 | Mental retardation, X-linked 1 | 309530 | C2931498 | OMIM | 1 | | 955 | 29059 | 300522 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | KDM5C CL E G H | 8242 | 300534 | Mental retardation, syndromic, Claes-Jensen type, X-linked | 300534 | C1845243 | OMIM | 1 | | 596 | 11114 | 314690 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | KIF4A CL E G H | 24137 | 300923 | Mental retardation, X-linked 100 | 300923 | C3890167 | OMIM | 1 | | 184 | 13339 | 300521 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | KLHL15 CL E G H | 80311 | 300982 | Mental retardation, X-linked 103 | 300982 | C4310818 | OMIM | 1 | | 181 | 29347 | 300980 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MAGED2 CL E G H | 10916 | 300971 | Bartter syndrome, type 5, antenatal, transient | 300971 | C4310820 | OMIM | 1 | | 186 | 16353 | 300470 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MAMLD1 CL E G H | 10046 | 300758 | Hypospadias 2, X-linked | 300758 | C2677879 | OMIM | 1 | | 234 | 2568 | 300120 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MAOA CL E G H | 4128 | 300615 | Monoamine oxidase A deficiency | 300615 | C0796275 | OMIM | 1 | | 259 | 6833 | 309850 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MBTPS2 CL E G H | 51360 | 308205 | IFAP syndrome with or without BRESHECK syndrome | 308205 | C1839988 | OMIM | 1 | | 248 | 15455 | 300294 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 248 | 15455 | 300294 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MBTPS2 CL E G H | 51360 | 300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | 300918 | C3806745 | OMIM | 1 | | 248 | 15455 | 300294 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MED12 CL E G H | 9968 | 300895 | Ohdo syndrome, X-linked | 300895 | C3698541 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MED12 CL E G H | 9968 | 309520 | X-linked mental retardation with marfanoid habitus syndrome | 309520 | C0796022 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MID1 CL E G H | 4281 | 300000 | Opitz-Frias syndrome | 300000 | C0175696 | OMIM | 1 | | 355 | 7095 | 300552 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MID2 CL E G H | 11043 | 300928 | Mental retardation, X-linked 101 | 300928 | C3890168 | OMIM | 1 | | 195 | 7096 | 300204 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 193 | 7373 | 309845 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 272 | 7678 | 300658 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NDP CL E G H | 4693 | 305390 | Familial exudative vitreoretinopathy, X-linked | 305390 | C1844579 | OMIM | 1 | | 272 | 7678 | 300658 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 817 | 29433 | 300524 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 306 | 7960 | 300473 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | NYX CL E G H | 60506 | 310500 | Congenital stationary night blindness, type 1A | 310500 | C3495587 | OMIM | 1 | | 397 | 8082 | 300278 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OCRL CL E G H | 4952 | 300555 | Dent disease 2 | 300555 | C1845167 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OFD1 CL E G H | 8481 | 300424 | Retinitis Pigmentosa 23 | 300424 | C1419610 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 381 | 8148 | 300127 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OPN1LW CL E G H | 5956 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 273 | 9936 | 300822 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OPN1LW CL E G H | 5956 | 303900 | Protan defect | 303900 | C0155015 | OMIM | 1 | | 273 | 9936 | 300822 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OPN1MW CL E G H | 2652 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 257 | 4206 | 300821 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OPN1MW CL E G H | 2652 | 303800 | Deuteranopia | 303800 | C0155016 | OMIM | 1 | | 257 | 4206 | 300821 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | OTC CL E G H | 5009 | 311250 | Ornithine carbamoyltransferase deficiency | 311250 | C0268542 | OMIM | 1 | | 829 | 8512 | 300461 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 292 | 8592 | 300142 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PGK1 CL E G H | 5230 | 300653 | Phosphoglycerate kinase 1 deficiency | 300653 | C1970848 | OMIM | 1 | | 265 | 8896 | 311800 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PHF8 CL E G H | 23133 | 300263 | Siderius X-linked mental retardation syndrome | 300263 | C1846055 | OMIM | 1 | | 273 | 20672 | 300560 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PHKA1 CL E G H | 5255 | 300559 | Glycogen storage disease IXd | 300559 | C1845151 | OMIM | 1 | | 410 | 8925 | 311870 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PHKA2 CL E G H | 5256 | 306000 | Glycogen storage disease type IXa1 | 306000 | C0017927 | OMIM | 1 | | 507 | 8926 | 300798 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 421 | 8957 | 311770 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PIH1D3 CL E G H | 139212 | 300991 | Ciliary dyskinesia, primary, 36, X-linked | 300991 | C4478372 | OMIM | 1 | | | 28570 | 300933 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 218 | 13711 | 300603 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 437 | 9173 | 312040 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | POU3F4 CL E G H | 5456 | 304400 | Deafness, X-linked 2 | 304400 | C1844678 | OMIM | 1 | | 238 | 9217 | 300039 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 269 | 9330 | 300463 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PRPS1 CL E G H | 5631 | 304500 | Deafness, X-linked 1 | 304500 | C1844677 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PRPS1 CL E G H | 5631 | 300661 | Phosphoribosylpyrophosphate synthetase superactivity | 300661 | C1970827 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RAB39B CL E G H | 116442 | 300271 | Mental retardation, X-linked 72 | 300271 | C1846038 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RBM10 CL E G H | 8241 | 311900 | TARP syndrome | 311900 | C1839463 | OMIM | 1 | | 229 | 9896 | 300080 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RBMX CL E G H | 27316 | 300238 | Mental retardation X-linked syndromic 11 | 300238 | C1846145 | OMIM | 1 | | 185 | 9910 | 300199 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RPGR CL E G H | 6103 | 300834 | Macular degeneration, X-linked atrophic | 300834 | C3151784 | OMIM | 1 | | 985 | 10295 | 312610 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RPGR CL E G H | 6103 | 300455 | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 300455 | C2749137 | OMIM | 1 | | 985 | 10295 | 312610 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SH2D1A CL E G H | 4068 | 308240 | Lymphoproliferative syndrome 1, X-linked | 308240 | C1868674 | OMIM | 1 | | 281 | 10820 | 300490 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 903 | 11055 | 300036 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SSR4 CL E G H | 6748 | 300934 | Congenital disorder of glycosylation type 1y | 300934 | C4012395 | OMIM | 1 | | 284 | 11326 | 300090 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | STS CL E G H | 412 | 308100 | X-linked ichthyosis with steryl-sulfatase deficiency | 308100 | C0079588 | OMIM | 1 | | 440 | 11425 | 300747 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | SYN1 CL E G H | 6853 | 300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | C1845343 | OMIM | 1 | | 463 | 11494 | 313440 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 1 | | 345 | 11535 | 313650 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TEX11 CL E G H | 56159 | 309120 | Spermatogenic failure, X-linked, 2 | 309120 | C1839841 | OMIM | 1 | | 157 | 11733 | 300311 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | THOC2 CL E G H | 57187 | 300957 | Mental retardation, X-linked 12 | 300957 | C0796218 | OMIM | 1 | | 289 | 19073 | 300395 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 217 | 11817 | 300356 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TRAPPC2 CL E G H | 6399 | 313400 | Spondyloepiphyseal dysplasia tarda | 313400 | C3541456 | OMIM | 1 | | 291 | 23068 | 300202 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TSPAN7 CL E G H | 7102 | 300210 | Mental retardation 58, X-linked | 300210 | C1846174 | OMIM | 1 | | 219 | 11854 | 300096 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | TSR2 CL E G H | 90121 | 300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 300946 | C4225422 | OMIM | 1 | | 170 | 25455 | 300945 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | UPF3B CL E G H | 65109 | 300676 | Mental retardation, syndromic 14, X-linked | 300676 | C1970822 | OMIM | 1 | | 314 | 20439 | 300298 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | USP27X CL E G H | 389856 | 300984 | Mental retardation, X-linked 105 | 300984 | C4310816 | OMIM | 1 | | 178 | 13486 | 300975 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | USP9X CL E G H | 8239 | 300919 | Mental retardation, X-linked 99 | 300919 | C3806746 | OMIM | 1 | | 568 | 12632 | 300072 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | VMA21 CL E G H | 203547 | 310440 | Myopathy, X-linked, with excessive autophagy | 310440 | C1839615 | OMIM | 1 | | 239 | 22082 | 300913 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 496 | 12731 | 300392 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | WAS CL E G H | 7454 | 313900 | Thrombocytopenia, X-linked | 313900 | C1839163 | OMIM | 1 | | 496 | 12731 | 300392 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | WAS CL E G H | 7454 | 301000 | Wiskott-Aldrich syndrome | 301000 | C0043194 | OMIM | 1 | | 496 | 12731 | 300392 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | XIAP CL E G H | 331 | 308240 | Lymphoproliferative syndrome 1, X-linked | 308240 | C1868674 | OMIM | 1 | | 454 | 592 | 300079 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ZIC3 CL E G H | 7547 | 306955 | Heterotaxy, visceral, X-linked | 306955 | C1844020 | OMIM | 1 | | 275 | 12874 | 300265 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 275 | 12874 | 300265 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | AIPL1 CL E G H | 23746 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 397 | 359 | 604392 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ARL6 CL E G H | 84100 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 159 | 13210 | 608845 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | C8orf37 CL E G H | 157657 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | | 27232 | 614477 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CLRN1 CL E G H | 7401 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 296 | 12605 | 606397 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CNGA1 CL E G H | 1259 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 336 | 2148 | 123825 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | CRX CL E G H | 1406 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 442 | 2383 | 602225 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | LRAT CL E G H | 9227 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 212 | 6685 | 604863 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | PDE6G CL E G H | 5148 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 95 | 8789 | 180073 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | RBP3 CL E G H | 5949 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 833 | 9921 | 180290 |
HP:0001419 | HP:0001419 | X-linked recessive inheritance | 0 | ROM1 CL E G H | 6094 | 268000 | Retinitis pigmentosa | 268000 | C0035334 | OMIM | 0 | | 242 | 10254 | 180721 |