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
Accession: DOID:0080354
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
G
Acr
acrosin
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,517,910...122,524,110
Ensembl chr 7:120,638,321...120,644,474
G
Adm2
adrenomedullin 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331
G
Alg12
ALG12, alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,774,796...121,789,175
Ensembl chr 7:119,895,120...119,909,458
G
Arhgap8
Rho GTPase activating protein 8
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,842,223...115,902,094
Ensembl chr 7:115,850,654...115,902,093
G
Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
G
Atxn10
ataxin 10
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,321,516...118,444,967
Ensembl chr 7:116,441,613...116,565,087
G
Bik
BCL2-interacting killer
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,552,303...116,571,317
Ensembl chr 7:114,672,277...114,691,296
G
Brd1
bromodomain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,653,859...121,701,700
Ensembl chr 7:119,774,188...119,822,031
G
Cdpf1
cysteine rich, DPF motif domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,896,672...116,905,438
Ensembl chr 7:116,901,003...116,905,406
G
Celsr1
cadherin, EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
G
Cerk
ceramide kinase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:119,105,674...119,149,885
Ensembl chr 7:117,225,855...117,268,759
G
Chkb
choline kinase beta
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:120,500,984...120,504,461
G
Cimap1b
ciliary microtubule associated protein 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,323,860...122,326,921
Ensembl chr 7:120,444,232...120,446,749
G
Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
PMID:25741868
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
G
Cpt1b
carnitine palmitoyltransferase 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:120,491,354...120,500,404
G
Creld2
cysteine-rich with EGF-like domains 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,788,754...121,796,230
Ensembl chr 7:119,909,633...119,916,543
G
Dennd6b
DENN domain containing 6B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,139,159...122,154,720
Ensembl chr 7:120,261,679...120,273,494
G
Efcab6
EF-hand calcium binding domain 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,899,022...117,085,998
Ensembl chr 7:115,019,010...115,206,092
G
Fam118a
family with sequence similarity 118, member A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,152,448...116,178,976
Ensembl chr 7:116,146,716...116,178,971
G
Fbln1
fibulin 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:116,310,582...116,390,075
G
Gramd4
GRAM domain containing 4
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:119,030,225...119,103,875
Ensembl chr 7:117,150,374...117,224,053
G
Gtse1
G-2 and S-phase expressed 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,949,997...116,966,826
Ensembl chr 7:116,950,053...116,966,806
G
Hdac10
histone deacetylase 10
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,078,768...122,084,457
Ensembl chr 7:120,199,129...120,204,228
G
Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18948358
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
G
Kiaa0930
KIAA0930 homolog
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,067,974...116,107,678
Ensembl chr 7:116,071,447...116,107,727
G
Klhdc7b
kelch domain containing 7B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,331,708...122,335,364
Ensembl chr 7:120,453,932...120,455,737
G
Lmf2
lipase maturation factor 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
G
Mapk11
mitogen-activated protein kinase 11
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,098,120...122,105,023
Ensembl chr 7:120,218,478...120,225,395
G
Mapk12
mitogen-activated protein kinase 12
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,085,647...122,096,307
Ensembl chr 7:120,206,271...120,216,664
G
Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,406,350...122,416,602
Ensembl chr 7:120,526,732...120,536,982
G
Mcat
malonyl-CoA-acyl carrier protein transacylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,573,632...116,585,767
Ensembl chr 7:114,693,612...114,704,542
G
Miox
myo-inositol oxygenase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,284,660...122,287,158
Ensembl chr 7:120,405,031...120,407,537
G
Mir1249
microRNA 1249
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712
G
Mirlet7b
microRNA let-7b
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,684,038...118,684,122
Ensembl chr 7:116,804,186...116,804,270
G
Mirlet7bhg
Mirlet7b host gene
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
G
Mirlet7c2
microRNA let7c-2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,683,623...118,683,717
Ensembl chr 7:116,803,771...116,803,865
G
Mlc1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:120,046,705...120,067,049
G
Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,949,743...122,015,042
Ensembl chr 7:120,070,135...120,134,765
G
Mpped1
metallophosphoesterase domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,811,841...116,891,789
Ensembl chr 7:114,944,764...115,011,787
G
Ncaph2
non-SMC condensin II complex, subunit H2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
G
Nup50
nucleoporin 50
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,047,960...116,065,231
Ensembl chr 7:116,048,021...116,066,905
G
Panx2
pannexin 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,018,937...122,032,009
Ensembl chr 7:120,139,294...120,152,361
G
Parvb
parvin, beta
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,360,254...115,445,767
Ensembl chr 7:115,360,261...115,445,766
G
Parvg
parvin, gamma
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,456,183...115,475,707
Ensembl chr 7:115,456,209...115,475,104
G
Phf21b
PHD finger protein 21B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,913,704...115,984,215
Ensembl chr 7:115,915,412...115,984,215
G
Pim3
Pim-3 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,822,076...121,836,257
Ensembl chr 7:119,953,175...119,956,587
G
Pkdrej
polycystin family receptor for egg jelly
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,909,094...116,915,468
Ensembl chr 7:116,909,094...116,915,468
G
Plxnb2
plexin B2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,111,917...122,138,201
Ensembl chr 7:120,232,331...120,258,330
G
Pnpla3
patatin-like phospholipase domain containing 3
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:117,173,485...117,194,065
Ensembl chr 7:115,293,538...115,314,077
G
Pnpla5
patatin-like phospholipase domain containing 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:117,126,046...117,137,036
Ensembl chr 7:115,246,050...115,257,039
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
G
Ppp6r2
protein phosphatase 6, regulatory subunit 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,164,968...122,236,625
Ensembl chr 7:120,285,406...120,356,395
G
Prr5
proline rich 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:117,675,308...117,717,833
Ensembl chr 7:115,813,954...115,834,834
G
Rabl2
RAB, member of RAS oncogene family like 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,652,175...120,660,906
Ensembl chr 7:120,652,175...120,660,783
G
Ribc2
RIB43A domain with coiled-coils 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,242,863...116,257,868
Ensembl chr 7:116,242,863...116,257,863
G
Rtl6
retrotransposon Gag like 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,684,812...115,689,897
Ensembl chr 7:115,684,739...115,690,052
G
Samm50
SAMM50 sorting and assembly machinery component
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682
G
Sbf1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
G
Scube1
signal peptide, CUB domain and EGF like domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:114,759,016...114,880,995
Ensembl chr 7:114,759,010...114,880,940
G
Selenoo
selenoprotein O
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
G
Shank3
SH3 and multiple ankyrin repeat domains 3
ISO IMP ISS
CTD Direct Evidence: marker/mechanism OMIM:606232 ClinVar Annotator: match by term: Phelan-McDermid syndrome
OMIM CTD MouseDO ClinVar RGD
PMID:16284256 PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 PMID:24033266 PMID:24759409 PMID:25188300 PMID:25356970 PMID:25724810 PMID:25741868 PMID:27554343 PMID:28135719 PMID:29719671 PMID:30537371 PMID:30763456 PMID:32015180 PMID:32382396 PMID:34737294 PMID:28139198 More...
RGD:41404704
NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
G
Shank3em1Bux
SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux
IMP
RGD
PMID:28139198
RGD:41404704
G
Shisal1
shisa like 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:115,506,947...115,611,518
Ensembl chr 7:115,509,035...115,575,449
G
Smc1b
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,060,898...118,122,683
Ensembl chr 7:116,180,987...116,242,744
G
Sult4a1
sulfotransferase family 4A, member 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:117,096,064...117,120,714
Ensembl chr 7:115,216,066...115,240,085
G
Syce3
synaptonemal complex central element protein 3
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
G
Tafa5
TAFA chemokine like family member 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,493,447...120,714,720
Ensembl chr 7:118,613,889...118,834,353
G
Tbc1d22a
TBC1 domain family, member 22a
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:117,292,481...117,577,473
Ensembl chr 7:117,292,631...117,577,483
G
Tcf20
transcription factor 20
ISS
OMIM:606232
MouseDO
NCBI chr 7:115,833,523...116,009,790
Ensembl chr 7:113,954,089...114,051,839
G
Trabd
TraB domain containing
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,034,685...122,045,657
Ensembl chr 7:120,155,042...120,166,015
G
Trmu
tRNA mitochondrial 2-thiouridylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
G
Tspo
translocator protein
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,600,214...116,610,461
Ensembl chr 7:114,720,188...114,730,450
G
Ttc38
tetratricopeptide repeat domain 38
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,805,115...118,828,449
Ensembl chr 7:116,925,257...116,948,611
G
Ttll1
TTL family tubulin polyglutamylase complex subunit L1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761
G
Ttll12
tubulin tyrosine ligase like 12
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,612,609...116,631,244
Ensembl chr 7:114,731,892...114,751,356
G
Ttll8
tubulin tyrosine ligase like 8
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
G
Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:120,177,686...120,199,011
G
Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
G
Upk3a
uroplakin 3A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948
G
Wnt7b
Wnt family member 7B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:118,514,684...118,559,316
Ensembl chr 7:116,634,814...116,679,581
G
Zbed4
zinc finger, BED-type containing 4
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr 7:121,723,130...121,763,180
Ensembl chr 7:119,843,169...119,883,899
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all