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:0001417 | HP:0001417 | X-linked inheritance | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | | | | 35 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ACSL4 CL E G H | 2182 | 3571 | OMIM:300387 | MENTAL RETARDATION, X-LINKED 63; MRX63 | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ADGRG2 CL E G H | 10149 | 4516 | OMIM:300985 | Vas deferens, congenital bilateral aplasia of, X-linked | . | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | . | | | 59 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | | | | 114 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | | | | 72 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | | | | 17 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AR CL E G H | 367 | 644 | OMIM:300633 | Hypospadias 1, X-linked | | | | 125 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | | | | 45 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARR3 CL E G H | 407 | 710 | OMIM:301010 | MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | | | | 166 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP11C CL E G H | 286410 | 13554 | OMIM:301015 | Hemolytic anemia, congenital, X-linked | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | | | | 192 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | | | | 192 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | | | | 8 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BGN CL E G H | 633 | 1044 | OMIM:300989 | Meester-Loeys syndrome | . | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | . | | | 16 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BRWD3 CL E G H | 254065 | 17342 | OMIM:300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | | | | 104 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | . | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | | | | 33 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CFAP47 CL E G H | 286464 | 26708 | OMIM:301059 | SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CFP CL E G H | 5199 | 8864 | OMIM:312060 | Properdin deficiency, X-linked | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | | | | 112 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | | | | 112 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLDN2 CL E G H | 9075 | 2041 | OMIM:301060 | AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | | | | 44 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | | | | 18 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | | | | 158 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:300645 | Atypical mycobacteriosis, familial, X-linked 2 | | | | 111 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | . | | | 145 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DIAPH2 CL E G H | 1730 | 2877 | OMIM:300511 | Premature ovarian failure 2A | | | | 6 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DLG3 CL E G H | 1741 | 2902 | OMIM:300850 | MENTAL RETARDATION, X-LINKED 90; MRX90 | | | | 30 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DMD CL E G H | 1756 | 2928 | OMIM:302045 | Cardiomyopathy, dilated, 3B | . | | | 1496 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | | | | 1496 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | DNAAF6 CL E G H | 139212 | 28570 | OMIM:300991 | Ciliary dyskinesia, primary, 36, X-linked | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | | | | 51 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EDA CL E G H | 1896 | 3157 | OMIM:313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | | | | 115 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | | | | 303 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | F8 CL E G H | 2157 | 3546 | OMIM:301071 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13 | | | | 303 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | F9 CL E G H | 2158 | 3551 | OMIM:306900 | Hemophilia B | | | | 143 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | F9 CL E G H | 2158 | 3551 | OMIM:300807 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8 | | | | 143 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FAM50A CL E G H | 9130 | 18786 | OMIM:300261 | Mental retardation syndrome, X-linked, Armfield type | . | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | | | | 68 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | | | | 68 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300321 | Fg syndrome 2 | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | | | | 493 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:311360 | Premature ovarian failure 1 | . | | | 30 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FRMD7 CL E G H | 90167 | 8079 | OMIM:310700 | Nystagmus 1, congenital, X-linked | | | | 38 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GCNA CL E G H | 93953 | 15805 | OMIM:301077 | SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GDI1 CL E G H | 2664 | 4226 | OMIM:300849 | MENTAL RETARDATION, X-LINKED 41; MRX41 | | | | 20 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | | | | 199 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | | | | 56 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | | | | 13 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | | | | 291 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300943 | PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2 | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | . | | | 64 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | | | | 64 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | | | | 124 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GPRASP2 CL E G H | 114928 | 25169 | OMIM:301018 | Deafness, X-linked 7 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HCFC1 CL E G H | 3054 | 4839 | OMIM:309541 | Methylmalonic acidemia and homocysteinemia, Cblx type | . | | | 100 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | | | | 76 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | | | | 9 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300636 | Immunodeficiency 33 | | | | 52 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | | | | 119 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | KIF4A CL E G H | 24137 | 13339 | OMIM:300923 | MENTAL RETARDATION, X-LINKED 100; MRX100 | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | . | | | 134 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | | | | 134 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | | | | 134 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | | | | 211 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | | | | 62 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:301031 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC | | | | 17 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MAMLD1 CL E G H | 10046 | 2568 | OMIM:300758 | Hypospadias 2, X-linked | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | | | | 22 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | | | | 22 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300496 | Autism susceptibility, X-linked 3 | . | | | 950 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | | | | 950 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | | | | 228 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MID2 CL E G H | 11043 | 7096 | OMIM:300928 | MENTAL RETARDATION, X-LINKED 101; MRX101 | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:301021 | Mitochondrial complex I deficiency, nuclear type 30 | . | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302200 | Cataract, congenital total, with posterior sutural opacities in heterozygotes | | | | 88 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | | | | 88 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300494 | Asperger syndrome, X-linked, susceptibility to, 1 | . | | | 24 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300425 | Autism susceptibility, X-linked 1 | . | | | 24 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300497 | Asperger syndrome susceptibility, X-linked 2 | . | | | 57 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300495 | Autism, susceptibility to, X-linked 2 | | | | 57 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300018 | Dosage-Sensitive sex reversal | . | | | 48 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303900 | Colorblindness, partial, protan series | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303800 | Colorblindness, partial, deutan series | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PCDH19 CL E G H | 57526 | 14270 | OMIM:300088 | Epileptic encephalopathy, early infantile, 9 | . | | | 225 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | | | | 18 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PDK3 CL E G H | 5165 | 8811 | OMIM:300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | | | | 4 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | | | | 217 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | | | | 60 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | POF1B CL E G H | 79983 | 13711 | OMIM:300604 | Premature ovarian failure 2B | | | | 31 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | | | | 40 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PRICKLE3 CL E G H | 4007 | 6645 | OMIM:308905 | Leber optic atrophy, susceptibility to | . | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | | | | 49 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:304500 | DEAFNESS, X-LINKED 1; DFNX1 | | | | 49 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:300271 | Mental retardation, X-linked 72 | | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | | | | 108 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | | | | 38 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC | | | | 200 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:300582 | SHORT STATURE, IDIOPATHIC, X-LINKED; ISS | | | | 66 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:300066 | Deafness, X-linked 4 | | | | 12 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | | | | 24 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:312000 | Panhypopituitarism, X-linked | . | | | 24 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | | | | 23 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SYN1 CL E G H | 6853 | 11494 | OMIM:300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SYN1 CL E G H | 6853 | 11494 | OMIM:300115 | Mental retardation, X-linked 50 | . | | | 58 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | SYP CL E G H | 6855 | 11506 | OMIM:300802 | MENTAL RETARDATION, X-LINKED 96; MRX96 | | | | 28 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | | | | 21 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | . | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TBX22 CL E G H | 50945 | 11600 | OMIM:302905 | Charge-Like syndrome, X-linked | . | | | 28 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TBX22 CL E G H | 50945 | 11600 | OMIM:303400 | Cleft palate, X-linked | . | | | 28 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TEX11 CL E G H | 56159 | 11733 | OMIM:309120 | SPERMATOGENIC FAILURE, X-LINKED, 2 | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301051 | IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TMLHE CL E G H | 55217 | 18308 | OMIM:300872 | Autism, susceptibility to, X-linked 6 | | | | 10 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | | | | 1 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | | | | 20 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | USP27X CL E G H | 389856 | 13486 | OMIM:300984 | MENTAL RETARDATION, X-LINKED 105; MRX105 | | | | 3 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | | | | 51 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | . | | | 8 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZDHHC9 CL E G H | 51114 | 18475 | OMIM:300799 | Mental retardation, x-linked syndromic, Raymond type | . | | | 10 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0001417 | HP:0001417 | X-linked inheritance | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | ACSL4 CL E G H | 2182 | 3571 | OMIM:300387 | MENTAL RETARDATION, X-LINKED 63; MRX63 | | | | 19 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | . | | | 114 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | . | | | 72 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | | | | 72 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AR CL E G H | 367 | 644 | OMIM:300633 | Hypospadias 1, X-linked | . | | | 125 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | . | | | 45 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | . | | | 29 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | . | | | 166 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP11C CL E G H | 286410 | 13554 | OMIM:301015 | Hemolytic anemia, congenital, X-linked | . | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | . | | | 36 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP7A CL E G H | 538 | 869 | OMIM:309400 | Menkes disease | . | | | 192 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | . | | | 192 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | . | | | 17 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BRWD3 CL E G H | 254065 | 17342 | OMIM:300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | | | | 104 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CFAP47 CL E G H | 286464 | 26708 | OMIM:301059 | SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3 | | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CFP CL E G H | 5199 | 8864 | OMIM:312060 | Properdin deficiency, X-linked | . | | | 7 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | | | | 112 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLDN2 CL E G H | 9075 | 2041 | OMIM:301060 | AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON | | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | . | | | 44 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | . | | | 18 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | . | | | 6 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | . | | | 158 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:300645 | Atypical mycobacteriosis, familial, X-linked 2 | . | | | 111 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DDX3X CL E G H | 1654 | 2745 | OMIM:300958 | MENTAL RETARDATION, X-LINKED 102; MRX102 | | | | 57 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | DIAPH2 CL E G H | 1730 | 2877 | OMIM:300511 | Premature ovarian failure 2A | . | | | 6 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DLG3 CL E G H | 1741 | 2902 | OMIM:300850 | MENTAL RETARDATION, X-LINKED 90; MRX90 | | | | 30 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | . | | | 1496 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | DNAAF6 CL E G H | 139212 | 28570 | OMIM:300991 | Ciliary dyskinesia, primary, 36, X-linked | . | | | | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | EDA CL E G H | 1896 | 3157 | OMIM:313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | | | | 115 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | . | | | 303 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | F8 CL E G H | 2157 | 3546 | OMIM:301071 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13 | | | | 303 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | F9 CL E G H | 2158 | 3551 | OMIM:306900 | Hemophilia B | . | | | 143 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | F9 CL E G H | 2158 | 3551 | OMIM:300807 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8 | | | | 143 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FAM50A CL E G H | 9130 | 18786 | OMIM:300261 | Mental retardation syndrome, X-linked, Armfield type | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | . | | | 58 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | . | | | 3 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | . | | | 68 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | . | | | 493 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | GDI1 CL E G H | 2664 | 4226 | OMIM:300849 | MENTAL RETARDATION, X-LINKED 41; MRX41 | | | | 20 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | | | | 199 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | | | | 56 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | . | | | 64 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | . | | | 124 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GPRASP2 CL E G H | 114928 | 25169 | OMIM:301018 | Deafness, X-linked 7 | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | HCFC1 CL E G H | 3054 | 4839 | OMIM:309541 | Methylmalonic acidemia and homocysteinemia, Cblx type | . | | | 100 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | . | | | 2 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | . | | | 76 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | | | | 19 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:300636 | Immunodeficiency 33 | | | | 52 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | | | | 119 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | . | | | 119 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | KIF4A CL E G H | 24137 | 13339 | OMIM:300923 | MENTAL RETARDATION, X-LINKED 100; MRX100 | | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | . | | | 134 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | . | | | 134 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | . | | | 134 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | LAS1L CL E G H | 81887 | 25726 | OMIM:309585 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS | | | | 8 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | . | | | 62 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:301031 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC | | | | 17 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MAMLD1 CL E G H | 10046 | 2568 | OMIM:300758 | Hypospadias 2, X-linked | . | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | . | | | 22 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MID2 CL E G H | 11043 | 7096 | OMIM:300928 | MENTAL RETARDATION, X-LINKED 101; MRX101 | | | | 7 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | . | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | . | | | 7 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | . | | | 3 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | . | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | . | | | 201 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | . | | | 7 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303900 | Colorblindness, partial, protan series | . | | | 7 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | . | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303800 | Colorblindness, partial, deutan series | . | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | . | | | 18 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | PDK3 CL E G H | 5165 | 8811 | OMIM:300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | . | | | 4 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | . | | | 54 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | . | | | 60 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | POF1B CL E G H | 79983 | 13711 | OMIM:300604 | Premature ovarian failure 2B | . | | | 31 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | . | | | 2 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | | | | 40 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:304500 | DEAFNESS, X-LINKED 1; DFNX1 | | | | 49 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | . | | | 49 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | . | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RAB39B CL E G H | 116442 | 16499 | OMIM:300271 | Mental retardation, X-linked 72 | | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | . | | | 108 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | . | | | 38 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300834 | MACULAR DEGENERATION, X-LINKED ATROPHIC | | | | 200 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | . | | | 148 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SMPX CL E G H | 23676 | 11122 | OMIM:300066 | Deafness, X-linked 4 | . | | | 12 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | . | | | 23 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | . | | | 19 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | SYN1 CL E G H | 6853 | 11494 | OMIM:300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | . | | | 58 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SYN1 CL E G H | 6853 | 11494 | OMIM:300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | . | | | 58 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | SYP CL E G H | 6855 | 11506 | OMIM:300802 | MENTAL RETARDATION, X-LINKED 96; MRX96 | | | | 28 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | . | | | 21 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TEX11 CL E G H | 56159 | 11733 | OMIM:309120 | SPERMATOGENIC FAILURE, X-LINKED, 2 | . | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301051 | IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74 | | | | | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TMLHE CL E G H | 55217 | 18308 | OMIM:300872 | Autism, susceptibility to, X-linked 6 | . | | | 10 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | TSR2 CL E G H | 90121 | 25455 | OMIM:300946 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | . | | | 20 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | USP27X CL E G H | 389856 | 13486 | OMIM:300984 | MENTAL RETARDATION, X-LINKED 105; MRX105 | | | | 3 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | WAS CL E G H | 7454 | 12731 | OMIM:300299 | Neutropenia, severe congenital, X-linked | . | | | 65 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0001417 | HP:0001423 | X-linked dominant inheritance | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001417 | HP:0001419 | X-linked recessive inheritance | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | . | | | 39 | | |