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)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal foramen magnum morphology
go back to main search page
Accession:HP:0002699 term browser browse the term
Definition:Any abnormality of the foramen magnum.
Comment:The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull.
Synonyms:exact_synonym: Abnormality of the foramen magnum
 xref: UMLS:C4025687


show annotations for term's descendants           Sort by:
Large foramen magnum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP HPO MIM:604213 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
Small foramen magnum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:616603 ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO MIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:100800 MIM:187600 MIM:187601 MIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO MIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of head or neck 5879
        Abnormality of the head 5846
          Abnormal skull morphology 2643
            Abnormal foramen magnum morphology 18
              Large foramen magnum 6
              Small foramen magnum 12
Path 2
Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of the musculoskeletal system 14135
        Abnormality of the skeletal system 10239
          Abnormal skeletal morphology 9727
            Abnormal axial skeleton morphology 3621
              Abnormal skull morphology 2643
                Abnormal foramen magnum morphology 18
                  Large foramen magnum 6
                  Small foramen magnum 12
paths to the root