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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:3p deletion syndrome
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Accession:DOID:0060417 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO)
Synonyms:exact_synonym: 3p- syndrome;   chromosome 3pter-P25 deletion syndrome;   distal monosomy 3p
 primary_id: OMIM:613792
 xref: ORDO:1620
For additional species annotation, visit the Alliance of Genome Resources.



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3p deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G C4h3orf20 similar to human chromosome 3 open reading frame 20 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,695,572...10,712,443
Ensembl chr 9:10,695,592...10,712,323
JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265
JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071
JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919
JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948
JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014
JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828
JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
JBrowse link
G Mettl6 methyltransferase 6, methylcytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975
JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902
JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,511,559...123,609,874
Ensembl chr 4:123,511,559...123,609,874
JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540
JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009
JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639
JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873
JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
JBrowse link
G Sh3bp5 SH3-domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975
JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913
JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      chromosomal deletion syndrome 1250
        3p deletion syndrome 39
Path 2
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        genetic disease 11398
          monogenic disease 8950
            autosomal genetic disease 7995
              autosomal dominant disease 5483
                complex cortical dysplasia with other brain malformations 1493
                  Malformations of Cortical Development, Group I 1343
                    microcephaly 1168
                      3p deletion syndrome 39
paths to the root