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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:severe congenital encephalopathy due to MECP2 mutation
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Accession:DOID:0111932 term browser browse the term
Definition:A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28. (DO)
Synonyms:exact_synonym: MECP2-related severe neonatal encephalopathy;   neonatal severe encephalopathy;   neonatal severe encephalopathy due to MECP2 mutation;   neonatal severe encephalopathy due to MECP2 mutations;   severe neonatal-onset encephalopathy with microcephaly
 primary_id: MESH:C566878
 alt_id: OMIM:300673
 xref: NCI:C132293;   ORDO:209370
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
severe congenital encephalopathy due to MECP2 mutation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
Ensembl chr 4:156,392,630...156,399,760 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations
ClinVar Annotator: match by OMIM:300673		 OMIM
ClinVar
CTD		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2460487 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11768391 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12555243 PMID:12566531 PMID:12567420 PMID:12655490 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15287421 PMID:15351775 PMID:15389714 PMID:15492925 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15675358 PMID:15689435 PMID:15689438 PMID:15712379 PMID:15718369 PMID:15737703 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:17084570 PMID:17088400 PMID:17089071 PMID:17142618 PMID:17172942 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17505203 PMID:17712354 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18477000 PMID:18499664 PMID:18562141 PMID:18572337 PMID:18652533 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21807996 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21982064 PMID:22182064 PMID:22213695 PMID:22277191 PMID:22368975 PMID:22382802 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22561697 PMID:22578097 PMID:22923521 PMID:23220634 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24458799 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25124696 PMID:25165434 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25541993 PMID:25634563 PMID:25640679 PMID:25644311 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26842955 PMID:26930212 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28394482 PMID:28492532 PMID:28544139 PMID:28785396 PMID:28831199 PMID:29482495 PMID:29655203 PMID:29720203 PMID:30081849 PMID:30536762 PMID:30564305 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:32214227 PMID:32581362 PMID:32860008 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      severe congenital encephalopathy due to MECP2 mutation 34
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        severe congenital encephalopathy due to MECP2 mutation 34
paths to the root