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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:mucopolysaccharidosis IVA
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Accession:DOID:0111391 term browser browse the term
Definition:A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)
Synonyms:exact_synonym: GALNS Deficiency;   GALNS deficiencies;   MPS IV - Morquio syndrome A;   MPS IV A;   MPS IVA;   MPS4A;   Morquio A Disease;   Morquio Syndrome A;   Mucopolysaccharidosis Type IV A;   Mucopolysaccharidosis, MPS-IV-A;   mucopolysaccharidosis type IVA
 primary_id: OMIM:253000
 xref: GARD:3785;   ICD10CM:E76.210;   NCI:C84901;   ORDO:309297

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show annotations for term's descendants           Sort by:
mucopolysaccharidosis IVA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004624746:805,742...807,963
Ensembl chrNW_004624746:805,758...807,963 		JBrowse link
G G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:74,196,858...74,199,789
Ensembl chr 5:74,194,013...74,199,891 		JBrowse link
G P APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276 		JBrowse link
G S Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748 		JBrowse link
G D APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G B APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504 		JBrowse link
G C Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G R Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G M Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		JBrowse link
G H APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
G N Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004624746:808,463...813,464
Ensembl chrNW_004624746:809,252...812,993 		JBrowse link
G G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972 		JBrowse link
G P CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934 		JBrowse link
G S Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:916,695...925,411
Ensembl chrNW_004936641:917,435...920,981 		JBrowse link
G D CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		JBrowse link
G B CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		JBrowse link
G C Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G R Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G M Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G H CDT1 chromatin licensing and DNA replication factor 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G N Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chrNW_004624746:786,259...805,450
Ensembl chrNW_004624746:786,422...805,073 		JBrowse link
G P GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134 		JBrowse link
G S Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chrNW_004936641:893,976...913,138
Ensembl chrNW_004936641:894,869...912,533 		JBrowse link
G D GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169 		JBrowse link
G B GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036 		JBrowse link
G C Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G R Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G M Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G H GALNS galactosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G N Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365 		JBrowse link
G G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr27:47,778,220...47,794,435
Ensembl chr27:47,778,335...47,794,352 		JBrowse link
G P IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969 		JBrowse link
G S Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chrNW_004936477:22,200,471...22,215,473
Ensembl chrNW_004936477:22,200,474...22,215,077 		JBrowse link
G D IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593 		JBrowse link
G B IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877 		JBrowse link
G C Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G R Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G M Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G H IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G G LOC103233459 trafficking protein particle complex subunit 2-like protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 5:74,243,395...74,248,579
Ensembl chr 5:74,243,405...74,247,598 		JBrowse link
G G LOC103233460 N-acetylgalactosamine-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr 5:74,201,468...74,243,478 JBrowse link
G H LOC126862447 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7581409 PMID:7633425 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr16:88,817,785...88,818,984 JBrowse link
G H LOC130059753 ATAC-STARR-seq lymphoblastoid active region 11369 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,781,179...88,781,308 JBrowse link
G H LOC130059754 ATAC-STARR-seq lymphoblastoid active region 11370 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,781,349...88,781,488 JBrowse link
G H LOC130059755 ATAC-STARR-seq lymphoblastoid active region 11371 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,781,509...88,781,878 JBrowse link
G H LOC130059756 ATAC-STARR-seq lymphoblastoid active region 11372 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,781,889...88,781,968 JBrowse link
G H LOC130059757 ATAC-STARR-seq lymphoblastoid silent region 7874 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,784,049...88,784,368 JBrowse link
G H LOC130059758 ATAC-STARR-seq lymphoblastoid silent region 7876 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,785,389...88,785,718 JBrowse link
G H LOC130059759 ATAC-STARR-seq lymphoblastoid silent region 7878 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,803,871...88,803,980 JBrowse link
G H LOC130059760 ATAC-STARR-seq lymphoblastoid silent region 7879 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr16:88,811,681...88,812,080 JBrowse link
G H LOC130059761 ATAC-STARR-seq lymphoblastoid silent region 7882 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:10479485 PMID:12442278 PMID:25741868 More... NCBI chr16:88,854,941...88,855,010 JBrowse link
G H LOC130059762 ATAC-STARR-seq lymphoblastoid silent region 7883 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr16:88,856,680...88,857,079 JBrowse link
G H LOC132090440 Neanderthal introgressed variant-containing enhancer experimental_46374 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:10479485 PMID:12442278 PMID:25741868 More... NCBI chr16:88,850,174...88,850,343 JBrowse link
G N Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481 		JBrowse link
G G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167 		JBrowse link
G P PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111 		JBrowse link
G S Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233 		JBrowse link
G D PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G B PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		JBrowse link
G C Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G R Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G M Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G H PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G N Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chrNW_004624746:781,833...786,163
Ensembl chrNW_004624746:781,833...786,131 		JBrowse link
G P TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226 		JBrowse link
G S Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chrNW_004936641:887,034...889,435
Ensembl chrNW_004936641:883,292...889,414 		JBrowse link
G D TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035 		JBrowse link
G B TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854 		JBrowse link
G C Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chrNW_004955541:2,711,051...2,715,458
Ensembl chrNW_004955541:2,710,938...2,718,804 		JBrowse link
G R Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
G M Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
G H TRAPPC2L trafficking protein particle complex subunit 2L IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199759
    Developmental Disease 191188
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 187562
        genetic disease 186955
          monogenic disease 108041
            autosomal genetic disease 99409
              autosomal recessive disease 67748
                mucopolysaccharidosis IVA 72
Path 2
Term Annotations click to browse term
  disease 199759
    Developmental Disease 191188
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 187562
        genetic disease 186955
          inherited metabolic disorder 57137
            lysosomal storage disease 9425
              mucopolysaccharidosis 442
                mucopolysaccharidosis IV 100
                  mucopolysaccharidosis IVA 72
paths to the root