Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
Borjeson-Forssman-Lehmann syndrome | PHF6* | Phf6* | 2 models | Alliance of Genome Resources | |||
Christianson syndrome | SLC9A6* | Slc9a6* | 3 models | Alliance of Genome Resources | |||
Kaufman oculocerebrofacial syndrome | UBE3B* | Ube3b* | 1 model | Alliance of Genome Resources | |||
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | MAST1* | Mast1* | 1 model | Alliance of Genome Resources | |||
neurodevelopmental disorder with midbrain and hindbrain malformations | ARHGEF2* | Arhgef2* | 1 model | Alliance of Genome Resources | |||
Renpenning syndrome | PQBP1* | Pqbp1* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual developmental disorder bain type | HNRNPH2* | Hnrnph2* | 3 models | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability 5 | AP1S2* | Ap1s2* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Claes-Jensen type | KDM5C* | Kdm5c* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Raymond type | ZDHHC9* | Zdhhc9* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Siderius type | PHF8* | Phf8* | 1 model | Alliance of Genome Resources | |||
X-linked intellectual disability-short stature-overweight syndrome | THOC2* | Thoc2*, Thoc2l | 1 model | Alliance of Genome Resources | |||
syndromic intellectual disability | OPHN1 | Ophn1* | 1 model | Alliance of Genome Resources | |||
syndromic intellectual disability | ANAPC7 | Anapc7* | 1 model | Alliance of Genome Resources | |||
syndromic intellectual disability | BRPF1 | Brpf1* | 2 models | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | RAB39B | Rab39b* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | ARX | Arx* | 1 model | Alliance of Genome Resources | |||
Armfield syndrome | FAM50A* | Fam50a | Alliance of Genome Resources | ||||
Arts syndrome | PITX2* | Pitx2 | Alliance of Genome Resources | ||||
Arts syndrome | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
Basilicata-Akhtar syndrome | MSL3* | Msl3 | Alliance of Genome Resources | ||||
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | IGBP1*, IGBP1C | Igbp1 | Alliance of Genome Resources | ||||
developmental delay and seizures with or without movement abnormalities | DHDDS* | Dhdds | Alliance of Genome Resources | ||||
female-restricted syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
intellectual developmental disorder with ocular anomalies and distinctive facial features | MTSS2* | Mtss2 | Alliance of Genome Resources | ||||
intellectual disability-severe speech delay-mild dysmorphism syndrome | FOXP1* | Foxp1 | Alliance of Genome Resources | ||||
MEHMO syndrome | EIF2S3*, EIF2S3B | Eif2s3x | Alliance of Genome Resources | ||||
Miles-Carpenter syndrome | ZC4H2* | Zc4h2 | Alliance of Genome Resources | ||||
Mullegama-Klein-Martinez syndrome | STAG2* | Stag2 | Alliance of Genome Resources | ||||
Paganini-Miozzo syndrome | HS6ST2* | Hs6st2 | Alliance of Genome Resources | ||||
Partington syndrome | ARX* | Arx | Alliance of Genome Resources | ||||
Pitt-Hopkins-like syndrome 2 | NRXN1* | Nrxn1 | Alliance of Genome Resources | ||||
Prieto syndrome | WNK3* | Wnk3 | Alliance of Genome Resources | ||||
Raynaud-Claes syndrome | CLCN4* | Clcn4 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | ZFX*, ZFY | Zfa-ps, Zfx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | NKAP* | Nkap | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | DDX3X* | D1Pas1, Ddx3x | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 14 | UPF3B* | Upf3b | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 34 | NONO* | Nono | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 94 | GRIA3* | Gria3 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Cabezas type | CUL4B* | Cul4b | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Hedera type | ARX* | Arx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Hedera type | ATP6AP2* | Atp6ap2 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Lubs type | MECP2* | Mecp2 | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Najm type | CASK* | Cask | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Nascimento type | UBE2A* | Ube2a | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Pilorge type | GLRA2* | Glra2 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Shashi type | RBMX* | Rbmx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Snyder type | SMS* | Sms, Sms-ps | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Turner type | HUWE1* | Huwe1 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability type 10 | HSD17B10* | Hsd17b10 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disorder Lujan-Fryns-type | MED12* | Med12 | Alliance of Genome Resources | ||||
syndromic X-linked mental retardation 35 | RPL10* | Rpl10, Rpl10-ps3 | Alliance of Genome Resources | ||||
syndromic X-linked mental retardation Hough type | CNKSR2* | Cnksr2 | Alliance of Genome Resources | ||||
Tatton-Brown-Rahman syndrome | DNMT3A* | Dnmt3a | Alliance of Genome Resources | ||||
Tonne-Kalscheuer syndrome | RLIM* | Rlim | Alliance of Genome Resources | ||||
Van Esch-O'Driscoll syndrome | POLA1* | Pola1 | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | HDAC8* | Hdac8 | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | LAS1L* | Las1l | Alliance of Genome Resources | ||||
X-linked intellectual developmental disorder 108 | SLC9A7* | Slc9a7 | Alliance of Genome Resources | ||||
X-linked intellectual developmental disorder 109 | AFF2* | Aff2 | Alliance of Genome Resources | ||||
X-linked intellectual disability-psychosis-macroorchidism syndrome | MECP2* | Mecp2 | Alliance of Genome Resources | ||||
X-linked mental retardation Gustavson type | RBMX* | Rbmx | Alliance of Genome Resources | ||||
X-linked mental retardation-hypotonic facies syndrome-1 | ATRX* | Atrx | Alliance of Genome Resources | ||||
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | OPHN1* | Ophn1 | Alliance of Genome Resources |
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 | |
syndromic intellectual disability | Del(17Abcg1-Rrp1b)5Yey | 1 model | |
syndromic X-linked intellectual disability Lubs type | Tg(MECP2)3Hzo | 1 model | |
syndromic X-linked intellectual disability Lubs type | Tg(MECP2)1Hzo | 2 models |