| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
| alpha thalassemia-X-linked intellectual disability syndrome | ATRX* | Atrx* | 3 models | Alliance of Genome Resources | ||
| amelogenesis imperfecta type 1E | AMELX*, AMELY | Amelx* | 6 models | Alliance of Genome Resources | |||
| Charcot-Marie-Tooth disease X-linked dominant 1 | GJB1* | Gjb1* | 9 models | Alliance of Genome Resources | |||
| Christianson syndrome | SLC9A6* | Slc9a6* | 3 models | Alliance of Genome Resources | |||
| Coffin-Lowry syndrome | RPS6KA3* | Rps6ka3* | 5 models | Alliance of Genome Resources | |||
| Cornelia de Lange syndrome 5 | HDAC8* | Hdac8* | 1 model | Alliance of Genome Resources | |||
| craniofrontonasal syndrome | EFNB1* | Efnb1* | 1 model | Alliance of Genome Resources | |||
| Danon disease | LAMP2* | Lamp2* | 3 models | Alliance of Genome Resources | |||
| developmental and epileptic encephalopathy 2 | CDKL5* | Cdkl5* | 2 models | Alliance of Genome Resources | |||
| focal dermal hypoplasia | PORCN* | Porcn* | 14 models | Alliance of Genome Resources | |||
| fragile X syndrome | FMR1* | Fmr1* | 10 models | Alliance of Genome Resources | |||
| Nance-Horan syndrome | NHS* | Nhs* | 3 models | Alliance of Genome Resources | |||
| neurodegeneration with brain iron accumulation 5 | WDR45* | Wdr45* | 2 models | Alliance of Genome Resources | |||
| non-syndromic X-linked intellectual disability 98 | NEXMIF* | Nexmif* | 1 model | Alliance of Genome Resources | |||
| orofaciodigital syndrome I | OFD1* | Ofd1* | 2 models | Alliance of Genome Resources | |||
| syndromic microphthalmia 2 | BCOR* | Bcor* | 1 model | Alliance of Genome Resources | |||
| X-linked Alport syndrome | COL4A5* | Col4a5* | 3 models | Alliance of Genome Resources | |||
| X-linked hypophosphatemic rickets | PHEX* | Phex* | 20 models | Alliance of Genome Resources | |||
| X-linked hypophosphatemic rickets | Gy* | 1 model | ||||
| 46,XX sex reversal 1 | SRY* | Sry | Alliance of Genome Resources | ||||
| Charcot-Marie-Tooth disease X-linked dominant 6 | PDK3* | Pdk3 | Alliance of Genome Resources | ||||
| CHILD syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
| chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | HDAC6* | Hdac6 | Alliance of Genome Resources | ||||
| congenital disorder of glycosylation type IIm | SLC35A2* | Slc35a2 | Alliance of Genome Resources | ||||
| Cornelia de Lange syndrome 2 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
| deafness, dystonia, and cerebral hypomyelination | BCAP31* | Bcap31 | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 36 | ALG13* | Alg13 | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 85 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 9 | PCDH19* | Pcdh19 | Alliance of Genome Resources | ||||
| female-restricted syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
| female-restricted Wieacker-Wolff syndrome | ZC4H2* | Zc4h2 | Alliance of Genome Resources | ||||
| Holoprosencephaly 13, X-linked | STAG2* | Stag2 | Alliance of Genome Resources | ||||
| linear skin defects with multiple congenital anomalies 1 | HCCS* | Hccs | Alliance of Genome Resources | ||||
| linear skin defects with multiple congenital anomalies 2 | COX7B* | Cox7b | Alliance of Genome Resources | ||||
| linear skin defects with multiple congenital anomalies 3 | NDUFB11* | Ndufb11, Ndufb11b | Alliance of Genome Resources | ||||
| Lisch epithelial corneal dystrophy | MCOLN1* | Mcoln1 | Alliance of Genome Resources | ||||
| nonphotosensitive trichothiodystrophy 5 | RNF113A* | Rnf113a1, Rnf113a2 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 1 | IQSEC2* | Iqsec2 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 107 | STEEP1* | Steep1 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 19 | RPS6KA3* | Rps6ka3 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 41 | GDI1* | Gdi1 | Alliance of Genome Resources | ||||
| non-syndromic X-linked intellectual disability 63 | ACSL4* | Acsl4 | Alliance of Genome Resources | ||||
| otopalatodigital syndrome type 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
| otopalatodigital syndrome type 2 | FLNA* | Flna | Alliance of Genome Resources | ||||
| primary ovarian insufficiency 2A | DIAPH2* | Diaph2 | Alliance of Genome Resources | ||||
| Raynaud-Claes syndrome | CLCN4* | Clcn4 | Alliance of Genome Resources | ||||
| reducing body myopathy 1A | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
| X-linked chondrodysplasia punctata 2 | EBP* | Ebp | Alliance of Genome Resources | ||||
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Transgenes and other genome features developed in mice to model this disease.
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| Disease Term | Transgenes and Other Genome Features | Mouse Models | |
| amelogenesis imperfecta type 1E | Tg(AMELX*P70T)2Gibs | 2 models | |
| X-linked hypophosphatemic rickets | Tg(Col1a1-FGF2*,-Sapphire)203Mmh | 1 model | |
| X-linked hypophosphatemic rickets | Tg(APOE-FGF23*R176Q)#Ack | 1 model | |