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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 the MECP2 gene 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: MIM:300673
 xref: NCI:C132293;   ORDO:209370


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: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:156,579,785...156,601,446 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:156,783,776...156,802,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:157,225,327...157,238,323 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:156,785,139...156,787,477 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:156,548,911...156,579,371 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:157,208,230...157,216,711 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:156,503,190...156,507,161 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:157,189,819...157,197,095 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:157,317,990...157,326,612 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:157,246,533...157,253,650 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:157,238,892...157,245,560 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:156,306,320...156,352,158 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:156,666,577...156,675,799 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:10986043 PMID:12180070 PMID:14560307 PMID:14974082 PMID:15351775 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,289,497...157,290,920 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly 		CTD
ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:156,681,717...156,713,028 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:157,267,107...157,282,891 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:156,645,182...156,660,003 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:156,520,753...156,525,352 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:156,254,872...156,259,971 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:157,205,836...157,208,049 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:157,303,915...157,309,793 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:156,536,017...156,545,321 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:156,661,875...156,666,531 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:156,675,566...156,679,543 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:157,216,554...157,225,287 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:156,303,203...156,304,811 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:157,304,254...157,305,380 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:156,268,234...156,294,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      severe congenital encephalopathy due to MECP2 mutation 43
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    X-Linked Intellectual Developmental Disorders 829
                      severe congenital encephalopathy due to MECP2 mutation 43
paths to the root