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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:choanal atresia
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Accession:DOID:9574 term browser browse the term
Definition:A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
Synonyms:exact_synonym: Choanal Atresias;   atresia of nares;   imperforate nares
 primary_id: MESH:D002754
 xref: ICD10CM:Q30.0;   ICD9CM:748.0

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show annotations for term's descendants           Sort by:
choanal atresia term browser
Symbol Object Name 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 chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia OMIM
ClinVar		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name 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 ClinVar
OMIM		 PMID:12002153 PMID:24728327 PMID:25590979 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,997,807...63,033,813 JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980 		JBrowse link
G Txnl4a thioredoxin like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199 		JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584 		JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743 		JBrowse link
Choanal Atresia and Lymphedema term browser
Symbol Object Name 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: Choanal atresia and lymphedema | ClinVar Annotator: match by term: PTPN14-related condition OMIM
ClinVar		 PMID:20826270 PMID:25741868 PMID:28492532 NCBI chrNW_004955406:3,368,833...3,463,170
Ensembl chrNW_004955406:3,368,694...3,456,437 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      respiratory system disease 4554
        Respiratory System Abnormalities 76
          choanal atresia 17
            Aplasia Cutis Congenita of Limbs Recessive 0
            Arhinia, Choanal Atresia, and Microphthalmia 1
            BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
            Burn-McKeown syndrome 14
            Choanal Atresia and Lymphedema 1
            Goldblatt Viljoen Syndrome 0
            Posterior Choanal Atresia 0
            Radial Ray Hypoplasia Choanal Atresia 0
            Renal Tubular Dysgenesis with Choanal Atresia and Athelia 0
Path 2
Term Annotations click to browse term
  disease 14336
    Pathological Conditions, Signs and Symptoms 11321
      Signs and Symptoms 9519
        Neurologic Manifestations 9213
          sensory system disease 6560
            Otorhinolaryngologic Diseases 1626
              nose disease 197
                nasal cavity disease 161
                  choanal atresia 17
                    Aplasia Cutis Congenita of Limbs Recessive 0
                    Arhinia, Choanal Atresia, and Microphthalmia 1
                    BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
                    Burn-McKeown syndrome 14
                    Choanal Atresia and Lymphedema 1
                    Goldblatt Viljoen Syndrome 0
                    Posterior Choanal Atresia 0
                    Radial Ray Hypoplasia Choanal Atresia 0
                    Renal Tubular Dysgenesis with Choanal Atresia and Athelia 0
paths to the root