Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
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 chr 5:30,127...36,005
Ensembl chr 5:30,127...36,005
JBrowse link
G ADM2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:254,397...255,478
Ensembl chr 5:253,396...255,601
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:716,928...727,239
Ensembl chr 5:717,028...729,397
JBrowse link
G ARHGAP8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,399,874...4,450,505
Ensembl chr 5:4,399,744...4,450,465
JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,637,794...3,798,204
Ensembl chr 5:3,637,111...3,798,201
JBrowse link
G BRD1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:774,307...808,016
Ensembl chr 5:770,654...808,006
JBrowse link
G CDPF1 cysteine rich DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,287,043...3,295,842
Ensembl chr 5:3,292,022...3,296,307
JBrowse link
G CERK ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195
JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176
JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974
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:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531
JBrowse link
G CRELD2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:709,042...716,766
Ensembl chr 5:709,045...716,771
JBrowse link
G DENND6B DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:376,556...389,334
Ensembl chr 5:376,551...389,330
JBrowse link
G EFCAB6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,166,994...5,408,130 JBrowse link
G FAM118A family with sequence similarity 118 member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,065,393...4,102,584
Ensembl chr 5:4,070,701...4,101,287
JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183
JBrowse link
G GRAMD4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:2,873,466...2,947,804
Ensembl chr 5:2,873,428...2,947,785
JBrowse link
G GTSE1 G2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,227,813...3,246,679
Ensembl chr 5:3,227,816...3,242,789
JBrowse link
G HDAC10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:439,142...445,337
Ensembl chr 5:439,808...445,334
JBrowse link
G IL17REL interleukin 17 receptor E like ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:645,882...662,552
Ensembl chr 5:646,879...664,018
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G KIAA0930 KIAA0930 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,152,371...4,198,372
Ensembl chr 5:4,152,128...4,195,613
JBrowse link
G KLHDC7B kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:202,137...203,951
Ensembl chr 5:202,137...203,951
JBrowse link
G LMF2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:233,601...238,266
Ensembl chr 5:233,401...238,266
JBrowse link
G LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381
JBrowse link
G LOC110260809 rab-like protein 2A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:104,510,606...104,525,994 JBrowse link
G MAPK11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:420,848...428,103
Ensembl chr 5:421,798...428,101
JBrowse link
G MAPK12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:429,635...437,970
Ensembl chr 5:429,770...437,975
JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:120,575...131,060
Ensembl chr 5:120,580...130,939
JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,742,190...5,750,193
Ensembl chr 5:5,742,185...5,751,456
JBrowse link
G MIOX myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:249,312...251,547
Ensembl chr 5:248,235...251,553
JBrowse link
G MIR1249-1 microRNA mir-1249-1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,187,912...4,187,993
Ensembl chr 5:4,187,912...4,187,993
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822
JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:509,868...567,429 JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,417,939...5,496,494
Ensembl chr 5:5,417,833...5,486,726
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475
JBrowse link
G NUP50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,194,308...4,219,410
Ensembl chr 5:4,197,544...4,219,230
JBrowse link
G PANX2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:497,380...506,126
Ensembl chr 5:497,385...506,013
JBrowse link
G PARVB parvin beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,906,667...5,015,494
Ensembl chr 5:4,906,685...5,015,441
JBrowse link
G PARVG parvin gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,874,343...4,899,508
Ensembl chr 5:4,873,153...4,898,647
JBrowse link
G PHF21B PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,290,962...4,387,112
Ensembl chr 5:4,291,396...4,386,247
JBrowse link
G PIM3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:677,705...680,690
Ensembl chr 5:677,705...680,695
JBrowse link
G PKDREJ polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,270,753...3,283,058 JBrowse link
G PLXNB2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:390,347...416,805
Ensembl chr 5:403,765...416,798
JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,075,608...5,092,599
Ensembl chr 5:5,075,622...5,092,515
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G PPP6R2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:285,381...361,309
Ensembl chr 5:285,386...361,548
JBrowse link
G PRR5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,467,231...4,525,610
Ensembl chr 5:4,467,232...4,525,588
JBrowse link
G RIBC2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,966,339...3,976,024
Ensembl chr 5:3,966,440...3,975,830
JBrowse link
G RTL6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,649,137...4,654,898
Ensembl chr 5:4,649,183...4,655,205
JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,035,893...5,072,550
Ensembl chr 5:5,035,895...5,071,277
JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307
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 chr 5:5,561,479...5,692,339
Ensembl chr 5:5,561,505...5,692,328
JBrowse link
G SELENOO selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:467,546...480,836
Ensembl chr 5:467,547...481,230
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 chr 5:41,376...93,033
Ensembl chr 5:41,786...93,177
JBrowse link
G SHISAL1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,767,436...4,849,333
Ensembl chr 5:4,771,417...4,849,326
JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395
JBrowse link
G SULT4A1 sulfotransferase family 4A member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,131,272...5,156,898
Ensembl chr 5:5,131,252...5,156,894
JBrowse link
G SYCE3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:168,908...201,037
Ensembl chr 5:181,056...200,832
JBrowse link
G TAFA5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:1,413,030...1,569,951
Ensembl chr 5:1,414,144...1,569,846
JBrowse link
G TBC1D22A TBC1 domain family member 22A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:2,528,920...2,787,313
Ensembl chr 5:2,528,921...2,787,304
JBrowse link
G TCF20 transcription factor 20 ISO OMIM:606232 MouseDO NCBI chr 5:6,430,217...6,534,948
Ensembl chr 5:6,484,365...6,528,172
JBrowse link
G TRABD TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:485,464...494,574
Ensembl chr 5:485,475...494,534
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366
JBrowse link
G TSPO translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,723,190...5,735,097
Ensembl chr 5:5,723,190...5,735,131
JBrowse link
G TTC38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,248,342...3,270,815
Ensembl chr 5:3,248,346...3,270,778
JBrowse link
G TTLL1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,793,760...5,827,622
Ensembl chr 5:5,793,780...5,827,633
JBrowse link
G TTLL12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:5,687,895...5,719,003
Ensembl chr 5:5,701,583...5,720,724
JBrowse link
G TTLL8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:594,614...645,705
Ensembl chr 5:602,886...629,882
JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:445,528...467,537
Ensembl chr 5:445,525...470,548
JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:4,109,985...4,122,272
Ensembl chr 5:4,109,938...4,119,289
JBrowse link
G WNT7B Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:3,521,412...3,572,322
Ensembl chr 5:3,521,288...3,572,314
JBrowse link
G ZBED4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr 5:735,882...758,052
Ensembl chr 5:735,884...757,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    syndrome 10412
      chromosomal deletion syndrome 1565
        Phelan-McDermid syndrome 76
Path 2
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Pathologic Processes 7676
        Chromosome Aberrations 2739
          Aneuploidy 1895
            Monosomy 1628
              Chromosome Deletion 1628
                chromosomal deletion syndrome 1565
                  Phelan-McDermid syndrome 76
paths to the root