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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: MESH:D015619


show annotations for term's descendants           Sort by:
Respiratory System Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7493022 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | ClinVar Annotator: match by term: SERKAL syndrome | ClinVar Annotator: match by term: WNT4-related condition OMIM
ClinVar		 PMID:18179883 PMID:25741868 PMID:28492532 NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:154,797,311...154,817,128 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia 		CTD
ClinVar
OMIM		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
choanal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Choanal atresia ClinVar PMID:25741868 PMID:31395954 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Lymphedema-posterior choanal atresia syndrome | ClinVar Annotator: match by term: PTPN14-related condition OMIM
ClinVar		 PMID:20826270 PMID:25741868 PMID:28492532 NCBI chr13:103,799,473...103,951,708
Ensembl chr13:103,799,494...103,951,708 		JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISS
ISO 		ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations | ClinVar Annotator: match by term: Fraser syndrome
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 More... NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations 		CTD
ClinVar
MouseDO		 PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS
ISO 		OMIM:219000
ClinVar Annotator: match by term: GRIP1-related condition 		MouseDO
ClinVar		 PMID:21383172 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cryptophthalmos syndrome | ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... RGD:1598960 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:16199547 PMID:22510445 PMID:24357607 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO 		ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 ClinVar
OMIM
RGD		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 More... RGD:13464328, RGD:126781714 NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 PMID:23336369 RGD:13464328, RGD:126781714
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:16,914,118...16,936,801 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:54,259,349...54,261,203
Ensembl chr10:54,256,949...54,261,387 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar		 PMID:16199547 PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 More... NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:143,615,360...143,663,986 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:22,309,613...22,356,754 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,556,199...61,563,527 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:63,771,823...63,775,713 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:84,093,529...84,144,835
Ensembl chr14:84,093,559...84,144,892 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS MouseDO NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:118,593,881...118,631,647 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome 		CTD
ClinVar		 PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chr10:104,985,283...105,025,813
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISS MouseDO NCBI chr 5:164,358,333...164,393,758
Ensembl chr 5:164,358,306...164,388,485 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:91,883,656...91,920,733
Ensembl chr 9:91,881,067...91,921,349 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 PMID:28492532 NCBI chr19:64,532,859...64,560,942
Ensembl chr19:64,532,860...64,561,435 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chr 7:100,033,843...100,134,979
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr10:88,346,453...88,349,853
Ensembl chr10:88,346,453...88,349,853 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:93,397,157...93,406,323
Ensembl chr 6:93,397,164...93,406,323 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22387996 NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:82,577,044...82,601,653
Ensembl chr 8:82,578,755...82,592,205 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 PMID:28492532 PMID:32719396 NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS 		DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD		 PMID:12142464 RGD:734893 NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS 		DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome 		ClinVar
MouseDO
RGD		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO
ISS 		DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 More... RGD:1601083 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS MouseDO NCBI chr10:100,259,022...100,292,427
Ensembl chr10:100,258,994...100,292,426 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:109,478,941...109,515,201
Ensembl chr 6:109,478,858...109,513,148 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome 		CTD
MouseDO
ClinVar		 PMID:23354437 PMID:25741868 NCBI chr 6:31,744,849...31,779,996
Ensembl chr 6:31,744,850...31,779,256 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:102,065,163...102,069,945
Ensembl chr10:102,065,170...102,069,241 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO 		ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:59,910,665...60,104,929
Ensembl chr17:59,910,757...60,103,547 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISS
ISO 		ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chr 8:28,796,909...28,810,587
Ensembl chr 8:28,796,701...28,810,511 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,343,258...9,361,988
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:31,307,102...31,323,263
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:117,098,790...117,103,387
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
scimitar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:243,228,448...243,263,751 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:182,052,337...182,135,137 		JBrowse link
G Ift88 intraflagellar transport 88 ISS OMIM:106700 MouseDO NCBI chr15:35,685,678...35,786,875
Ensembl chr15:35,688,927...35,781,634 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Scimitar syndrome ClinVar PMID:25741868 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:106700 MouseDO NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      respiratory system disease 3830
        Respiratory System Abnormalities 60
          46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 1
          Bronchogenic Cyst 0
          Bronchopulmonary Sequestration 0
          Cystic Adenomatoid Malformation of Lung, Congenital 0
          Fraser syndrome + 20
          Fraser-Like Syndrome 0
          Kartagener syndrome 28
          Laryngocele 0
          Oculoauriculofrontonasal Syndrome 0
          Tracheobronchomegaly 0
          choanal atresia + 4
          laryngostenosis 0
          scimitar syndrome + 6
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        Congenital Abnormalities 3298
          Respiratory System Abnormalities 60
            46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 1
            Bronchogenic Cyst 0
            Bronchopulmonary Sequestration 0
            Cystic Adenomatoid Malformation of Lung, Congenital 0
            Fraser syndrome + 20
            Fraser-Like Syndrome 0
            Kartagener syndrome 28
            Laryngocele 0
            Oculoauriculofrontonasal Syndrome 0
            Tracheobronchomegaly 0
            choanal atresia + 4
            laryngostenosis 0
            scimitar syndrome + 6
paths to the root