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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:Phelan-McDermid syndrome
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Accession:DOID:0080354 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)
Synonyms:exact_synonym: 22q13 deletion syndrome;   22q13.3 deletion syndrome;   PHMDS;   chromosome 22q13.3 deletion syndrome;   monosomy 22q13;   monosomy 22q13 syndrome;   telomeric 22q13 monosomy syndrome
 broad_synonym: SHANK3-RELATED CONDITION;   SHANK3-related disorder
 primary_id: MESH:C536801
 alt_id: MIM:606232
 xref: GARD:10130;   NCI:C157124;   ORDO:48652


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Phelan-McDermid syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACR acrosin ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,231,521...33,236,141 JBrowse link
G ADM2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,951,199...32,953,251
Ensembl chr19:32,952,115...32,953,157
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,395,413...32,420,160 JBrowse link
G ARHGAP8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,238,379...27,328,338 JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926
JBrowse link
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,128,644...28,307,061
Ensembl chr19:28,128,688...28,308,617
JBrowse link
G BIK BCL2 interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,632,837...25,658,951
Ensembl chr19:25,652,945...25,658,541
JBrowse link
G BRD1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,261,796...32,323,528
Ensembl chr19:32,261,833...32,320,706
JBrowse link
G CDPF1 cysteine rich DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,717,333...28,724,072
Ensembl chr19:28,718,403...28,721,581
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216
JBrowse link
G CERK ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,183,324...29,236,857 JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,055,296...33,059,442
Ensembl chr19:33,055,294...33,059,230
JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,001,537...33,004,063
Ensembl chr19:33,001,954...33,003,852
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:96,307,927...96,570,592 JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,044,272...33,055,197
Ensembl chr19:33,043,916...33,054,247
JBrowse link
G CRELD2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,420,315...32,430,770
Ensembl chr19:32,420,370...32,430,904
JBrowse link
G DENND6B DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,801,068...32,815,384 JBrowse link
G EFCAB6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,023,566...26,327,309
Ensembl chr19:26,023,643...26,295,493
JBrowse link
G FAM118A family with sequence similarity 118 member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,779,600...27,811,763
Ensembl chr19:27,779,521...27,813,370
JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,962,669...28,061,356
Ensembl chr19:27,962,642...28,061,364
JBrowse link
G GRAMD4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,068,166...29,175,646
Ensembl chr19:29,070,023...29,172,977
JBrowse link
G GTSE1 G2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,776,515...28,811,712
Ensembl chr19:28,777,821...28,811,035
JBrowse link
G HDAC10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,735,091...32,741,200
Ensembl chr19:32,735,406...32,740,817
JBrowse link
G IL17REL interleukin 17 receptor E like ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,496,780...32,513,309
Ensembl chr19:32,501,039...32,505,181
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G KIAA0930 KIAA0930 ortholog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,664,808...27,709,670
Ensembl chr19:27,666,148...27,709,638
JBrowse link
G KLHDC7B kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,020,849...33,022,961 JBrowse link
G LMF2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,973,979...32,978,433
Ensembl chr19:32,974,420...32,978,374
JBrowse link
G LOC103223489 PRR34 long non-coding RNA ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,518,869...28,523,215 JBrowse link
G MAPK11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,754,261...32,760,859
Ensembl chr19:32,752,546...32,760,798
JBrowse link
G MAPK12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,742,625...32,754,152 JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,079,548...33,090,221
Ensembl chr19:33,079,626...33,091,514
JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,647,290...25,671,239
Ensembl chr19:25,659,856...25,670,894
JBrowse link
G MIOX myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,953,268...32,960,123
Ensembl chr19:32,957,256...32,961,023
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,559,208...32,583,522
Ensembl chr19:32,557,536...32,583,060
JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,586,652...32,653,563
Ensembl chr19:32,587,008...32,653,886
JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,978,304...26,013,760 JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
JBrowse link
G NUP50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,632,467...27,656,892
Ensembl chr19:27,632,545...27,653,563
JBrowse link
G PANX2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,662,350...32,671,536 JBrowse link
G PARVB parvin beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,536,346...26,672,740
Ensembl chr19:26,606,974...26,672,190
JBrowse link
G PARVG parvin gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,684,758...26,710,880
Ensembl chr19:26,687,728...26,711,541
JBrowse link
G PHF21B PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,353,586...27,501,080 JBrowse link
G PIM3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,466,432...32,470,001
Ensembl chr19:32,466,771...32,470,006
JBrowse link
G PKDREJ polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,728,474...28,736,676
Ensembl chr19:28,729,375...28,736,145
JBrowse link
G PLXNB2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,764,329...32,797,223
Ensembl chr19:32,764,272...32,784,566
JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,435,302...26,458,368
Ensembl chr19:26,435,599...26,462,210
JBrowse link
G PNPLA5 patatin like phospholipase domain containing 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,396,040...26,408,553
Ensembl chr19:26,397,163...26,408,126
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar
G PPP6R2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,824,732...32,917,356
Ensembl chr19:32,866,039...32,916,534
JBrowse link
G PRR5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,164,900...27,225,398
Ensembl chr19:27,165,278...27,226,907
JBrowse link
G RABL2B RAB, member of RAS oncogene family like 2B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,247,315...33,261,631 JBrowse link
G RIBC2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,879,777...27,900,198
Ensembl chr19:27,879,972...27,900,659
JBrowse link
G RTL6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,976,277...26,981,092
Ensembl chr19:26,979,791...26,980,510
JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,467,319...26,509,695
Ensembl chr19:26,467,278...26,510,168
JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,919,029...32,945,333
Ensembl chr19:32,919,341...32,938,690
JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
JBrowse link
G SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,731,128...25,873,120 JBrowse link
G SELENOO selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,692,237...32,708,595
Ensembl chr19:32,693,005...32,708,437
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome OMIM
ClinVar
PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 More... NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224
JBrowse link
G SHISAL1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,755,029...26,832,855
Ensembl chr19:26,755,829...26,833,072
JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,814,944...27,879,692
Ensembl chr19:27,815,442...27,879,640
JBrowse link
G SULT4A1 sulfotransferase family 4A member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,339,693...26,379,260
Ensembl chr19:26,339,582...26,379,249
JBrowse link
G SYCE3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,023,956...33,038,641
Ensembl chr19:33,023,960...33,038,600
JBrowse link
G TAFA5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:30,985,913...31,247,087
Ensembl chr19:31,073,084...31,247,161
JBrowse link
G TBC1D22A TBC1 domain family member 22A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,260,995...29,681,768
Ensembl chr19:29,261,018...29,684,409
JBrowse link
G TCF20 transcription factor 20 ISO OMIM:606232 MouseDO NCBI chr19:24,693,036...24,877,150
Ensembl chr19:24,692,374...24,853,507
JBrowse link
G TRABD TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,677,292...32,691,565
Ensembl chr19:32,684,603...32,692,742
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935
JBrowse link
G TSPO translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,678,602...25,690,556
Ensembl chr19:25,686,981...25,690,768
JBrowse link
G TTC38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,749,590...28,775,475
Ensembl chr19:28,749,657...28,777,171
JBrowse link
G TTLL1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,576,525...25,616,413
Ensembl chr19:25,576,379...25,616,328
JBrowse link
G TTLL12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,693,844...25,714,386
Ensembl chr19:25,692,610...25,714,342
JBrowse link
G TTLL8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,519,898...32,556,437
Ensembl chr19:32,520,001...32,555,079
JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,708,760...32,735,000
Ensembl chr19:32,708,807...32,734,373
JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,749,232...27,761,309
Ensembl chr19:27,750,876...27,761,295
JBrowse link
G WNT7B Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,387,324...28,444,019
Ensembl chr19:28,385,422...28,441,350
JBrowse link
G ZBED4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,349,021...32,382,481
Ensembl chr19:32,377,676...32,381,191
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    syndrome 10457
      chromosomal deletion syndrome 1592
        Phelan-McDermid syndrome 79
Path 2
Term Annotations click to browse term
  disease 15417
    Pathological Conditions, Signs and Symptoms 12061
      Pathologic Processes 7626
        Chromosome Aberrations 2764
          Aneuploidy 1915
            Monosomy 1655
              Chromosome Deletion 1655
                chromosomal deletion syndrome 1592
                  Phelan-McDermid syndrome 79
paths to the root