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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:Shortening of all distal phalanges of the fingers
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Accession:HP:0006118 term browser browse the term
Definition:Hypoplasia of all of the distal phalanx of finger.
Synonyms:exact_synonym: Shortening of all outermost bones of the fingers
 related_synonym: Brachytelephalangy
 alt_id: HP:0005658
 xref: UMLS:C4021608



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Shortening of all distal phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:777 HPO NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP ORPHA:777 HPO NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:777 HPO NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ORPHA:79320 HPO NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ORPHA:777 HPO NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932
JBrowse link
G ARX aristaless related homeobox IAGP ORPHA:777 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ORPHA:777 HPO NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:777 HPO NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP ORPHA:777 HPO NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490
JBrowse link
G DMD dystrophin IAGP ORPHA:777 HPO NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP ORPHA:777 HPO NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ORPHA:777 HPO NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ORPHA:777 HPO NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G HCFC1 host cell factor C1 IAGP ORPHA:777 HPO NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ORPHA:777 HPO NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:777 HPO NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:777 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:777 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MID2 midline 2 IAGP ORPHA:777 HPO NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP ORPHA:777 HPO NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ORPHA:247262 HPO NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ORPHA:247262 HPO NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
JBrowse link
G PHF6 PHD finger protein 6 IAGP OMIM:301900 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:247262 HPO NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP OMIM:614749 ORPHA:247262 HPO NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP ORPHA:247262 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP ORPHA:247262 HPO NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 ORPHA:247262 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PTCHD1 patched domain containing 1 IAGP ORPHA:777 HPO NCBI chr  X:23,334,396...23,404,374
Ensembl chr  X:23,334,849...23,404,374
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ORPHA:777 HPO NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:777 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ORPHA:777 HPO NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118
JBrowse link
G STEEP1 STING1 ER exit protein 1 IAGP ORPHA:777 HPO NCBI chr  X:119,538,149...119,565,409
Ensembl chr  X:119,538,149...119,565,409
JBrowse link
G SYP synaptophysin IAGP ORPHA:777 HPO NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218
JBrowse link
G TSPAN7 tetraspanin 7 IAGP ORPHA:777 HPO NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP ORPHA:777 HPO NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ORPHA:777 HPO NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ORPHA:777 HPO NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP OMIM:619135 HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
G ZNF41 zinc finger protein 41 IAGP ORPHA:777 HPO NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222
JBrowse link
G ZNF711 zinc finger protein 711 IAGP ORPHA:777 HPO NCBI chr  X:85,243,991...85,273,357
Ensembl chr  X:85,243,991...85,273,362
JBrowse link
G ZNF81 zinc finger protein 81 IAGP ORPHA:777 HPO NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of limbs 2376
        Abnormality of the upper limb 1694
          Abnormality of the hand 1545
            Abnormality of finger 1174
              Aplasia/Hypoplasia of fingers 348
                Short finger 313
                  Short distal phalanx of finger 137
                    Shortening of all distal phalanges of the fingers 43
Path 2
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Abnormal skeletal morphology 3234
            Abnormal appendicular skeleton morphology 1843
              Abnormality of limb bone morphology 1717
                Abnormal digit morphology 1514
                  Abnormality of finger 1174
                    Abnormal finger phalanx morphology 706
                      Abnormal distal phalanx morphology of finger 185
                        Aplasia/Hypoplasia of the distal phalanges of the hand 144
                          Short distal phalanx of finger 137
                            Shortening of all distal phalanges of the fingers 43
paths to the root