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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 of the phalanges of the hand
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Accession:HP:0009802 term browser browse the term
Definition:Absence of one or more of the phalanges of the hand.
Synonyms:related_synonym: Absent finger bone of the hand
 xref: UMLS:C4024203;   UMLS:C4280393


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Aplasia of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:200500 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
Absent middle phalanx of 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Absent middle phalanx of 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO OMIM:124480 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:186100 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:149730 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Aplasia of the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCD2 FA complementation group D2 IAGP HPO OMIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93321 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93321 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:617247 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Aplasia of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Aplasia of the distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Aplasia of the distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO OMIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Aplasia of the middle phalanx of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP HPO OMIM:610140 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
Aplasia of the proximal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of limbs 2537
        Abnormality of the upper limb 1811
          Aplasia/hypoplasia involving bones of the upper limbs 562
            Aplasia involving bones of the upper limbs 15
              Aplasia of the phalanges of the hand 15
                Aplasia of the distal phalanges of the hand + 3
                Aplasia of the middle phalanx of the hand + 8
                Aplasia of the proximal phalanges of the hand + 8
Path 2
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of the musculoskeletal system 4351
        Abnormality of the skeletal system 3555
          Abnormal skeletal morphology 3432
            Abnormal appendicular skeleton morphology 1942
              Abnormality of limb bone morphology 1813
                Abnormal digit morphology 1589
                  Abnormal finger morphology 1248
                    Abnormal finger phalanx morphology 682
                      Aplasia/Hypoplasia of the phalanges of the hand 226
                        Aplasia of the phalanges of the hand 15
                          Aplasia of the distal phalanges of the hand + 3
                          Aplasia of the middle phalanx of the hand + 8
                          Aplasia of the proximal phalanges of the hand + 8
paths to the root