Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:chromosome 9p deletion syndrome
go back to main search page
Accession:DOID:0060732 term browser browse the term
Definition:A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)
Synonyms:exact_synonym: 9p syndrome;   Alfi syndrome;   Monosomy 9p;   chromosome 9, monosomy 9p;   monosomy 9p syndrome
 primary_id: MESH:C538024
 alt_id: MIM:158170
 xref: ORDO:261112


show annotations for term's descendants           Sort by:
chromosome 9p deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Brd10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,490,983...227,572,246
Ensembl chr 1:227,491,839...227,571,330 		JBrowse link
G Cd274 CD274 molecule ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cdc37l1 cell division cycle 37-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,705,019...226,733,994
Ensembl chr 1:226,705,003...226,761,175 		JBrowse link
G Dmac1 distal membrane arm assembly component 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:89,241,173...89,243,793
Ensembl chr 5:89,242,661...89,243,757 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dmrt2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131 		JBrowse link
G Dmrt3 doublesex and mab-3 related transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:223,244,340...223,264,254
Ensembl chr 1:223,248,747...223,262,530 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,383,992...227,422,120
Ensembl chr 1:227,387,920...227,436,909 		JBrowse link
G Foxd4 forkhead box D4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,557,494...222,559,189
Ensembl chr 1:222,557,360...222,559,159 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:158170 MouseDO NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899 		JBrowse link
G Il33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Mir101-2 microRNA 101-2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,860,371...226,860,467
Ensembl chr 1:226,860,371...226,860,467 		JBrowse link
G Mlana melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938 		JBrowse link
G Plgrkt plasminogen receptor with a C-terminal lysine ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,099,005...227,111,277
Ensembl chr 1:227,099,015...227,111,194 		JBrowse link
G Plpp6 phospholipid phosphatase 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,679,100...226,681,952
Ensembl chr 1:226,679,100...226,681,949 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396 		JBrowse link
G Pum3 pumilio RNA-binding family member 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,074,332...225,113,995
Ensembl chr 1:225,074,333...225,114,025 		JBrowse link
G Ranbp6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,572,394...227,576,915
Ensembl chr 1:227,572,105...227,576,942 		JBrowse link
G Rcl1 RNA terminal phosphate cyclase-like 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,824,561...226,869,046
Ensembl chr 1:226,824,534...226,902,315 		JBrowse link
G Rfx3 regulatory factor X3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402 		JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863 		JBrowse link
G Rln1 relaxin 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,079,960...227,082,960
Ensembl chr 1:227,079,966...227,082,882 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:226,630,470...226,682,979
Ensembl chr 1:226,641,518...226,682,884 		JBrowse link
G Tpd52l3 TPD52 like 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,781,173...227,785,040
Ensembl chr 1:227,773,724...227,784,467 		JBrowse link
G Uhrf2 ubiquitin like with PHD and ring finger domains 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:227,814,639...227,877,907
Ensembl chr 1:227,814,963...227,877,904 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Washc1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 9:105,722,779...105,830,836
Ensembl chr 9:105,722,899...105,733,009 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      chromosomal deletion syndrome 1525
        chromosome 9p deletion syndrome 40
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Pathologic Processes 8236
        Chromosome Aberrations 2745
          Aneuploidy 1863
            Monosomy 1587
              Chromosome Deletion 1587
                chromosomal deletion syndrome 1525
                  chromosome 9p deletion syndrome 40
paths to the root