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Entry Name Description Category Pathway Gene
H00715 Darier disease
Dyskeratosis follicularis 		... keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] ... Congenital malformation ATP2A2 [HSA:488] [KO:K05853]
H00719 Leprechaunism
Donohue syndrome 		... autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism ... Endocrine and metabolic disease INSR [HSA:3643] [KO:K04527]
H00727 Athabascan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome 		... HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders. Congenital malformation HOXA1 [HSA:3198] [KO:K09301]
H00732 Sorsby fundus dystrophy ... characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade ... Nervous system disease TIMP3 [HSA:7078] [KO:K16866]
H00736 Dorfman-Chanarin syndrome
Chanarin-Dorfman syndrome 		... ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase ... Inherited metabolic disorder ABHD5 [HSA:51099] [KO:K13699]
H00738 Ichthyosis with confetti
Congenital reticular ichthyosiform erythroderma
Ichthyosis variegata 		Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches ... Congenital malformation KRT10 [HSA:3858] [KO:K07604]
H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome ... Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved ... Congenital malformation (IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
H00749 Episodic ataxias Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant ... Nervous system disease (EA1) KCNA1 [HSA:3736] [KO:K04874]
(EA2) CACNA1A [HSA:773] [KO:K04344]
(EA5) CACNB4 [HSA:785] [KO:K04865]
(EA6) SLC1A3 [HSA:6507] [KO:K05614]
(EA9) SCN2A [HSA:6326] [KO:K04834]
H00754 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized Inherited metabolic disorder (MGCA1) AUH [HSA:549] [KO:K05607]
(MGCA2) TAFAZZIN [HSA:6901] [KO:K13511]
(MGCA3) OPA3 [HSA:80207] [KO:K23166]
(MGCA5) DNAJC19 [HSA:131118] [KO:K09539]
(MGCA6) SERAC1 [HSA:84947] [KO:K23504]
(MGCA7A/7B) CLPB [HSA:81570] [KO:K03695]
(MGCA8) HTRA2 [HSA:27429] [KO:K08669]
(MGCA9) TIMM50 [HSA:92609] [KO:K17496]
H00755 Acrokeratosis verruciformis ... characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified. Congenital malformation ATP2A2 [HSA:488] [KO:K05853]
H00756 Pitt-Hopkins syndrome Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... Congenital malformation (PTHS) TCF4 [HSA:6925] [KO:K15603]
(PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380]
(PTHSL2) NRXN1 [HSA:9378] [KO:K07377]
H00757 Dyggve-Melchior-Clausen disease ... recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening ... Congenital malformation DYM [HSA:54808] [KO:K23951]
H00763 Transient bullous dermolysis of the newborn ... separation occurs below the lamina densa, due to abnormal intraepidermal accumulation of type VII collagen. The disease usually regresses during early life, as type VII collagen secretion gradually recovers. Congenital malformation COL7A1 [HSA:1294] [KO:K16628]
H00764 Chromosome 5p deletion syndrome
Cri du chat syndrome
Cat cry syndrome 		... bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may ... Chromosomal abnormality SEMA5A [HSA:9037] [KO:K06841]
CTNND2 [HSA:1501] [KO:K23491]
TERT [HSA:7015] [KO:K11126]
H00766 Wolcott-Rallison syndrome ... characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations ... Endocrine and metabolic disease EIF2AK3 [HSA:9451] [KO:K08860]
H00768 Autosomal recessive intellectual developmental disorder
Autosomal recessive mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... Mental and behavioural disorder (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K19478]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K09259]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
(MRT74) APC2 [HSA:10297] [KO:K02085]
(MRT75) PIDD1 [HSA:55367] [KO:K10130]
(MRT76) GRIA1 [HSA:2890] [KO:K05197]
(MRT77) CEP104 [HSA:9731] [KO:K16458]
(MRT78) WDR11 [HSA:55717] [KO:K24260]
(MRT79) TPR [HSA:7175] [KO:K09291]
(MRT80) CASP2 [HSA:835] [KO:K02186]
(MRT81) ASCC3 [HSA:10973] [KO:K18663]
(MRT82) NSUN6 [HSA:221078] [KO:K21971]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
H00779 Usher syndrome ... congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular ... Nervous system disease (USH1B) MYO7A [HSA:4647] [KO:K10359]
(USH1C) USH1C [HSA:10083] [KO:K21877]
(USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
(USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
(USH1G) USH1G [HSA:124590] [KO:K21878]
(USH1J) CIB2 [HSA:10518] [KO:K23837]
(USH1M) ESPN [HSA:83715] [KO:K24047]
(USH2A) USH2A [HSA:7399] [KO:K19636]
(USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
(USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
(USH2D) WHRN [HSA:25861] [KO:K21879]
(USH3A) CLRN1 [HSA:7401] [KO:K23841]
(USH3B) HARS [HSA:3035] [KO:K01892]
(USH4) ARSG [HSA:22901] [KO:K12381]
H00787 Congenital stationary night blindness Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal ... Nervous system disease (CSNB1A) NYX [HSA:60506] [KO:K08129]
(CSNB1B) GRM6 [HSA:2916] [KO:K04608]
(CSNB1C) TRPM1 [HSA:4308] [KO:K04976]
(CSNB1D) SLC24A1 [HSA:9187] [KO:K13749]
(CSNB1E) GPR179 [HSA:440435] [KO:K22961]
(CSNB1F) LRIT3 [HSA:345193] [KO:K24491]
(CSNB1H) GNB3 [HSA:2784] [KO:K07825]
(CSNB1I) GUCY2D [HSA:3000] [KO:K12321]
(CSNB2A) CACNA1F [HSA:778] [KO:K04853]
(CSNB2B) CABP4 [HSA:57010] [KO:K23531]
(CSNBAD1) RHO [HSA:6010] [KO:K04250]
(CSNBAD2) PDE6B [HSA:5158] [KO:K13756]
(CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631]
(CSNBO1) SAG [HSA:6295] [KO:K19627]
(CSNBO2) GRK1 [HSA:6011] [KO:K00909]
H00788 Hoyeraal-Hreidarsson syndrome
X-linked dyskeratosis congenita 		... variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency ... Ribosomopathy DKC1 [HSA:1736] [KO:K11131]
H00792 Warburg micro syndrome ... syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological ... Congenital malformation (WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
(WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
(WARBM3) RAB18 [HSA:22931] [KO:K07910]
(WARBM4) TBC1D20 [HSA:128637] [KO:K20372]
H00796 Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the ... Congenital malformation KRT14 [HSA:3861] [KO:K07604]
H00797 Martsolf syndrome ... recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia. Congenital malformation (MARTS1) RAB3GAP2 [HSA:25782] [KO:K19937]
(MARTS2) RAB3GAP1 [HSA:22930] [KO:K18270]
H00798 Familial carpal tunnel syndrome ... The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported. Nervous system disease (CTS1) TTR [HSA:7276] [KO:K20731]
(CTS2) COMP [HSA:1311] [KO:K04659]
H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
SeSAME/EAST syndrome 		Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte ... Nervous system disease KCNJ10 [HSA:3766] [KO:K05003]
H00805 Vitreoretinal degeneration The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes ... Nervous system disease (STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(SVD) KCNJ13 [HSA:3769] [KO:K05006]
(WGVRP) VCAN [HSA:1462] [KO:K06793]
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(ESCS) NR2E3 [HSA:10002] [KO:K08546]
(VRCP) BEST1 [HSA:7439] [KO:K13878]
H00814 Vitelliform macular dystrophy ... characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 ... Nervous system disease (VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878]
(VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343]
(VMD4) IMPG1 [HSA:3617] [KO:K19016]
(VMD5) IMPG2 [HSA:50939] [KO:K19017]
H00816 Agenesis of the corpus callosum with peripheral neuropathy ... neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial ... Nervous system disease SLC12A6 [HSA:9990] [KO:K14427]
H00819 Stargardt disease
Fundus flavimaculatus 		... macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of ... Nervous system disease (STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... Nervous system disease (ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD1) CFHR1 [HSA:3078] [KO:K23815]
(ARMD1) CFHR3 [HSA:10878] [KO:K23815]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) CFH [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715] [KO:K25179]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(ARMD13) CFI [HSA:3426] [KO:K01333]
(ARMD14) C2 [HSA:717] [KO:K01332]
(ARMD14) CFB [HSA:629] [KO:K01335]
(ARMD15) C9 [HSA:735] [KO:K04000]
H00825 Familial flecked retina syndrome The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group ... Nervous system disease (DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
H00836 GLUT1 deficiency syndrome
Glucose transport defect of the blood-brain barrier 		... cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly Nervous system disease GLUT1 [HSA:6513] [KO:K07299]
H00837 Leber congenital amaurosis Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... Nervous system disease (LCA1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812] [KO:K19655]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691] [KO:K24828]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA9) NMNAT1 [HSA:64802] [KO:K06210]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035] [KO:K25404]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287] [KO:K19600]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
(LCA17) GDF6 [HSA:392255] [KO:K20012]
(LCA18) PRPH2 [HSA:5961] [KO:K17343]
(LCA19) USP45 [HSA:85015] [KO:K11844]
(LCAEOD) TUBB4B [HSA:10383] [KO:K07375]
H00844 Familial benign chronic pemphigus
Hailey-Hailey disease 		... In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey ... Congenital malformation ATP2C1 [HSA:27032] [KO:K01537]
H00854 Wolfram syndrome
DIDMOAD syndrome 		... resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic ... Endocrine and metabolic disease (WFS1) WFS1 [HSA:7466] [KO:K14020]
(WFS2) CISD2 [HSA:493856] [KO:K23882]
H00862 Tourette syndrome Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated ... Mental and behavioural disorder SLITRK1 [HSA:114798] [KO:K25832]
HDC [HSA:3067] [KO:K01590]
H00866 Trichothiodystrophy ... with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are ... Skin disease (TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]
H00889 Lujan-Fryns syndrome
X-linked mental retardation with Marfanoid habitus 		Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow ... Congenital malformation MED12 [HSA:9968] [KO:K15162]
H00894 FG syndrome
Opitz-Kaveggia syndrome 		... (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The ... Congenital malformation (FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
H00905 Iminoglycinuria Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex ... Inherited metabolic disorder SLC36A2 [HSA:153201] [KO:K14209]
SLC6A19 [HSA:340024] [KO:K05334]
SLC6A20 [HSA:54716] [KO:K05048]
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