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:Aplasia/Hypoplasia of the phalanges of the 4th toe
go back to main search page
Accession:HP:0010371 term browser browse the term
Synonyms:exact_synonym: Absent/small bones of 4th toe;   Absent/underdeveloped bones of 4th toe
 xref: UMLS:C4023875


show annotations for term's descendants           Sort by:
Aplasia/Hypoplasia of the phalanges of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:488232 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
Aplasia of the distal phalanx of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Aplasia of the middle phalanx of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO MIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of limbs 3147
        Abnormality of the lower limb 2185
          Abnormal foot morphology 1565
            Aplasia/Hypoplasia involving bones of the feet 300
              Aplasia/Hypoplasia of the phalanges of the toes 30
                Aplasia/Hypoplasia of the phalanges of the 4th toe 3
                  Aplasia of the phalanges of the 4th toe + 2
                  Aplasia/Hypoplasia of the distal phalanx of the 4th toe + 1
                  Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                  Aplasia/hypoplasia of the proximal phalanx of the 4th toe + 0
                  Short phalanx of the 4th toe + 0
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal skeletal morphology 8024
            Aplasia/hypoplasia involving the skeleton 1248
              Aplasia/hypoplasia of the extremities 739
                Aplasia/hypoplasia involving bones of the extremities 693
                  Aplasia/hypoplasia involving bones of the lower limbs 402
                    Aplasia/Hypoplasia involving bones of the feet 300
                      Aplasia/Hypoplasia of the phalanges of the toes 30
                        Aplasia/Hypoplasia of the phalanges of the 4th toe 3
                          Aplasia of the phalanges of the 4th toe + 2
                          Aplasia/Hypoplasia of the distal phalanx of the 4th toe + 1
                          Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                          Aplasia/hypoplasia of the proximal phalanx of the 4th toe + 0
                          Short phalanx of the 4th toe + 0
paths to the root