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Entry Name Description Category Pathway Gene
H02463 Syndromic intellectual developmental disorder Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... Mental and behavioural disorder (IDDRP) SCAPER [HSA:49855] [KO:K24869]
(IDDCA) GNB5 [HSA:10681] [KO:K04539]
(IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
(IDDFP) BRPF1 [HSA:7862] [KO:K11348]
(IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
(IDDGIP) PPM1D [HSA:8493] [KO:K10147]
(DILOS) BCL11A [HSA:53335] [KO:K22045]
(IDDBCS) PHF21A [HSA:51317] [KO:K24651]
(IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
(IDDEBF) ALG14 [HSA:199857] [KO:K07441]
(IDDHDF) CCNK [HSA:8812] [KO:K23326]
(IDDHBA) CDK8 [HSA:1024] [KO:K02208]
(IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
(IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
(IDDECA) RORA [HSA:6095] [KO:K08532]
(IDDSELD) SETD1B [HSA:23067] [KO:K11422]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
(IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
(FHEIG) KCNK4 [HSA:50801] [KO:K04915]
(HIDEA) P4HTM [HSA:54681] [KO:K06711]
(IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDPADS) PDE2A [HSA:5138] [KO:K18283]
(IDDSAPN) NEMF [HSA:9147] [KO:K24971]
(CAGS) ANKRD17 [HSA:26057] [KO:K16726]
(MRFACD) MED13L [HSA:23389] [KO:K15164]
(IDDMDS) LGI3 [HSA:203190] [KO:K19999]
(IDDOF) MTSS2 [HSA:92154] [KO:K20128]
(IDDPN) NUDT2 [HSA:318] [KO:K01518]
H02579 C3 glomerulopathy C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies ... Immune system disease; Urinary system disease (C3G1) CFH [HSA:3075] [KO:K04004]
(C3G2) CFI [HSA:3426] [KO:K01333]
(C3G3) CFHR5 [HSA:81494] [KO:K23817]
H02616 Neurodevelopmental disorder with macrocephaly Neurodevelopmental disorder with macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components ... Congenital malformation (SNIBCPS) CHD3 [HSA:1107] [KO:K11642]
(SIHIWES) CHD4 [HSA:1108] [KO:K11643]
(GAND) GATAD2B [HSA:57459] [KO:K23194]
(MNDLFH) ZBTB7A [HSA:51341] [KO:K10494]
H02735 Diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations ... Congenital malformation MTAP [HSA:4507] [KO:K00772]
41 to 44 of 44 Prev 1 2
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