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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation |
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905] (NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSBAS) WDR45B [HSA:56270] [KO:K22991] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDABA) ODC1 [HSA:4953] [KO:K01581] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDCASB) SHMT2 [HSA:6472] [KO:K00600] (NEDHSB) SPATA5 [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] |
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| H02481 | Syndromic disorder with short stature | Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... | Congenital malformation |
(SSMDF) CRIPT [HSA:9419] [KO:K24826] (SAMS) GSC [HSA:145258] [KO:K09324] (SBIDDS) PRMT7 [HSA:54496] [KO:K11438] (SIMHA) ZNF407 [HSA:55628] [KO:K26729] (SOFT) POC1A [HSA:25886] [KO:K16482] (SOFM) POLR3GL [HSA:84265] [KO:K03024] (SOPH) NBAS [HSA:51594] [KO:K20473] (SRMMD) ARCN1 [HSA:372] [KO:K20471] (SSASKS) SLC10A7 [HSA:84068] [KO:K14347] (SSFSC1) BMP2 [HSA:650] [KO:K21283] (SSFSC2) SCUBE3 [HSA:222663] [KO:K24468] |
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