ONTOLOGY REPORT - ANNOTATIONS


Term:Respiratory System Abnormalities
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Accession:DOID:9007870 term browser browse the term
Definition:Congenital structural abnormalities of the respiratory system.
Synonyms:exact_synonym: Respiratory System Abnormality
 primary_id: MESH:D015619;   RDO:0003779
For additional species annotation, visit the Alliance of Genome Resources.


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Respiratory System Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:11554173
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:7240710
RGD:8554872
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:11554173
RGD:7240710
RGD:8554872
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
Choanal Atresia and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 JBrowse link 13 108,689,916 108,841,593 RGD:7240710
RGD:8554872
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:13592920
Fraser Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:8554872
RGD:7240710
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:11554173
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:13592920
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:8554872
RGD:11554173
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
scimitar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      respiratory system disease 2385
        Respiratory System Abnormalities 70
          46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
          Bronchogenic Cyst 0
          Bronchopulmonary Sequestration 0
          Cystic Adenomatoid Malformation of Lung, Congenital 0
          Fraser syndrome + 5
          Fraser-Like Syndrome 0
          Kartagener syndrome 37
          Laryngocele 0
          Oculoauriculofrontonasal syndrome 0
          Tracheobronchomegaly 0
          choanal atresia + 21
          laryngostenosis 0
          scimitar syndrome + 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Respiratory System Abnormalities 70
            46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
            Bronchogenic Cyst 0
            Bronchopulmonary Sequestration 0
            Cystic Adenomatoid Malformation of Lung, Congenital 0
            Fraser syndrome + 5
            Fraser-Like Syndrome 0
            Kartagener syndrome 37
            Laryngocele 0
            Oculoauriculofrontonasal syndrome 0
            Tracheobronchomegaly 0
            choanal atresia + 21
            laryngostenosis 0
            scimitar syndrome + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.