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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:Hypofibrinogenemia
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Accession:HP:0011900 term browser browse the term
Definition:Decreased concentration of fibrinogen in the blood.
Synonyms:exact_synonym: Low fibrinogen activity;   Low fibrinogen level
 xref: SNOMEDCT_US:234457009;   UMLS:C0553681



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Hypofibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase IAGP ORPHA:88618 HPO NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G ANK1 ankyrin 1 IAGP ORPHA:822 HPO NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CD46 CD46 molecule IAGP ORPHA:244242 HPO NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFH complement factor H IAGP ORPHA:244242 HPO NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP ORPHA:244242 HPO NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ORPHA:822 HPO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G FGA fibrinogen alpha chain IAGP OMIM:202400
DNA:deletion:cds:
ClinVar Annotator: match by term: Hypofibrinogenemia
HPO
ClinVar
RGD
PMID:237956 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 More... RGD:11040559 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain IAGP OMIM:202400
ClinVar Annotator: match by term: Hypofibrinogenemia
HPO
ClinVar
RGD
PMID:1565641 PMID:10688828 PMID:11468164 PMID:12161363 PMID:15070683 More... RGD:737709 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP OMIM:202400
ClinVar Annotator: match by term: Hypofibrinogenemia
HPO
ClinVar
PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
JBrowse link
G GNA14 G protein subunit alpha 14 IAGP ORPHA:1063 HPO NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP OMIM:618398 HPO NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP ORPHA:244242 HPO Ensembl chr12:102,197,585...102,402,596 JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G LYST lysosomal trafficking regulator IAGP ORPHA:167 HPO NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP OMIM:619313 HPO NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NGLY1 N-glycanase 1 IAGP ORPHA:404454 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP OMIM:616050 HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRF1 perforin 1 IAGP OMIM:603553 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP OMIM:619525 HPO NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ORPHA:822 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP ORPHA:470 HPO NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ORPHA:822 HPO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ORPHA:822 HPO NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G STX11 syntaxin 11 IAGP OMIM:603552 HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G UNC13D unc-13 homolog D susceptibility IAGP OMIM:608898
DNA:deletions, insertion, snps:exons, intron:multiple
HPO
RGD
PMID:14622600 RGD:1600451 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP OMIM:300635 HPO NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14887
    Phenotypic abnormality 14884
      Abnormality of blood and blood-forming tissues 1995
        Abnormality of coagulation 341
          Abnormality of the coagulation cascade 276
            Abnormality of the common coagulation pathway 145
              Abnormality of circulating fibrinogen 41
                Hypofibrinogenemia 39
paths to the root