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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:laryngeal disease
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Accession:DOID:786 term browser browse the term
Definition:Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing.
Synonyms:exact_synonym: Laryngeal Perichondritides;   Laryngeal Perichondritis;   Larynx Disease;   Larynx Diseases;   laryngeal diseases
 primary_id: MESH:D007818;   RDO:0000485
 xref: ICD10CM:J38.7;   ICD10CM:S12.8;   ICD9CM:478.70;   NCI:C26810
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28166811 PMID:28492532 PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO OMIM NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis
ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:15805163 PMID:20849849 PMID:21840889 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
OMIM
ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29525180 PMID:32028661 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 PMID:26955893 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:28166811 PMID:28492532 PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
glottis squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
laryngeal squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706, PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
Laryngo Onycho Cutaneous Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by OMIM:245660
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laryngoonychocutaneous syndrome
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
OMIM
ClinVar
CTD
PMID:11810295 PMID:12915477 PMID:24033266 PMID:25363238 PMID:25741868 PMID:28492532 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:25741868 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
larynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
lipoid proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis
ClinVar Annotator: match by OMIM:247100
ClinVar
OMIM
PMID:11929856 PMID:12472532 PMID:12603844 PMID:16172042 PMID:17063986 PMID:17199583 PMID:17927570 PMID:24708644 PMID:25529926 PMID:25741868, PMID:11929856 RGD:734912 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
ClinVar Annotator: match by OMIM:614369
OMIM
ClinVar
PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26752647 PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24526230 PMID:24706558 PMID:24785942 PMID:24850488 PMID:25085639 PMID:25326635 PMID:25545912 PMID:25741868 PMID:26643067 PMID:28492532 PMID:28973395 PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      Otorhinolaryngologic Diseases 1168
        laryngeal disease 48
          Asrar Facharzt Haque Syndrome 1
          BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
          Congenital Partial Atresia of Larynx 0
          Laryngeal Atresia, Encephalocele, and Limb Deformities 0
          Laryngeal Edema 0
          Laryngeal Granuloma 0
          Laryngeal Neoplasms + 19
          Laryngeal Nerve Injuries + 0
          Laryngo Onycho Cutaneous Syndrome 1
          Laryngocele 0
          Laryngopharyngeal Reflux + 0
          Supraglottitis + 0
          Vocal Cord Dysfunction + 0
          Vocal Cord Paralysis + 21
          Voice Disorders + 4
          acquired laryngomalacia 0
          amyotrophic lateral sclerosis type 21 1
          laryngitis + 0
          laryngomalacia + 1
          laryngostenosis 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            laryngeal disease 48
              Asrar Facharzt Haque Syndrome 1
              BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
              Congenital Partial Atresia of Larynx 0
              Laryngeal Atresia, Encephalocele, and Limb Deformities 0
              Laryngeal Edema 0
              Laryngeal Granuloma 0
              Laryngeal Neoplasms + 19
              Laryngeal Nerve Injuries + 0
              Laryngo Onycho Cutaneous Syndrome 1
              Laryngocele 0
              Laryngopharyngeal Reflux + 0
              Supraglottitis + 0
              Vocal Cord Dysfunction + 0
              Vocal Cord Paralysis + 21
              Voice Disorders + 4
              acquired laryngomalacia 0
              amyotrophic lateral sclerosis type 21 1
              laryngitis + 0
              laryngomalacia + 1
              laryngostenosis 0
paths to the root