Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 4th metacarpal morphology
go back to main search page
Accession:HP:0010012 term browser browse the term
Definition:Any abnormality of the fourth metacarpal bone.
Synonyms:exact_synonym: Abnormality of the 4th long bone of hand;   Abnormality of the 4th metacarpal
 xref: UMLS:C4024111



show annotations for term's descendants           Sort by:
4-5 metacarpal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G FGF16 fibroblast growth factor 16 IAGP HPO OMIM:309630 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278
JBrowse link
G HOXD13 homeobox D13 IAGP HPO OMIM:186300 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
Aplasia of the 4th metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
Short 4th metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 IAGP HPO OMIM:601390 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO OMIM:615546 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP HPO OMIM:606220 NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G FLNA filamin A IAGP HPO OMIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:79445 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:169400 OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO OMIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO OMIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHOX SHOX homeobox IAGP HPO OMIM:127300 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G SVBP small vasohibin binding protein IAGP HPO OMIM:618569 NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of limbs 2577
        Abnormality of the upper limb 1820
          Abnormal upper limb bone morphology 460
            Abnormal metacarpal morphology 220
              Abnormal 4th metacarpal morphology 20
                Abnormality of the epiphysis of the 4th metacarpal + 0
                Aplasia/Hypoplasia of the 4th metacarpal + 16
                Synostosis involving the 4th metacarpal + 4
Path 2
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the musculoskeletal system 4402
        Abnormality of the skeletal system 3638
          Abnormal skeletal morphology 3519
            Abnormal appendicular skeleton morphology 1993
              Abnormal limb bone morphology 1862
                Abnormal upper limb bone morphology 460
                  Abnormal metacarpal morphology 220
                    Abnormal 4th metacarpal morphology 20
                      Abnormality of the epiphysis of the 4th metacarpal + 0
                      Aplasia/Hypoplasia of the 4th metacarpal + 16
                      Synostosis involving the 4th metacarpal + 4
paths to the root