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:Short middle phalanx of the 5th finger
go back to main search page
Accession:HP:0004220 term browser browse the term
Definition:Hypoplastic/small middle phalanx of the fifth finger.
Comment:Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
Synonyms:exact_synonym: 5th finger middle phalangeal hypoplasia;   Brachymesophalangism V;   Brachymesophalangy V (finger);   Fifth finger mid-phalanx hypoplasia;   Hypoplastic fifth finger middle phalanx;   Hypoplastic middle phalanx of the 5th finger;   Hypoplastic/small middle phalanx of the 5th finger;   Hypoplastic/small middle phalanx of the little finger;   Short middle bone of the little finger;   Short middle bone of the pinkie finger;   Short middle bone of the pinky finger;   Short middle phalanx of the little finger;   Type A3 brachydactyly
 alt_id: HP:0001243;   HP:0003069;   HP:0004221;   HP:0005649;   HP:0005706;   HP:0005734;   HP:0005813
 xref: UMLS:C1834060


show annotations for term's descendants           Sort by:
Short middle phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:112600 ORPHA:93396 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO PMID:25758993 MIM:112600 MIM:616849 ORPHA:93396 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO PMID:27738187 PMID:30569521 MIM:617180 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO PMID:20683927 PMID:28391997 MIM:112600 MIM:113100 MIM:615072 ORPHA:63442 ORPHA:93396 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO PMID:31698099 MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186000 ORPHA:93409 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NIN ninein IAGP HPO PMID:22933543 MIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G NOG noggin IAGP HPO PMID:15770128 MIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO PMID:30903679 MIM:620719 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO PMID:20932317 MIM:182290 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:251255 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 MIM:156510 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO PMID:22265015 MIM:136140 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:17534187 PMID:18351627 MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of limbs 3278
        Abnormality of the upper limb 2138
          Abnormality of the hand 1961
            Abnormal finger morphology 1355
              Aplasia/Hypoplasia of fingers 373
                Short finger 327
                  Short middle phalanx of finger 55
                    Short middle phalanx of the 5th finger 23
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the musculoskeletal system 14151
        Abnormality of the skeletal system 10242
          Abnormal skeletal morphology 9730
            Abnormal appendicular skeleton morphology 2220
              Abnormal limb bone morphology 2042
                Aplasia/hypoplasia involving bones of the extremities 699
                  Aplasia/hypoplasia involving bones of the upper limbs 582
                    Aplasia/hypoplasia involving bones of the hand 545
                      Aplasia/Hypoplasia of fingers 373
                        Short finger 327
                          Short middle phalanx of finger 55
                            Short middle phalanx of the 5th finger 23
paths to the root