Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:autosomal recessive congenital ichthyosis
go back to main search page
Accession:DOID:0060655 term browser browse the term
Definition:An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Synonyms:exact_synonym: ARCI;   alligator skin;   congenital ichthyosiform erythroderma;   congenital ichthyosiform erythroderma, dry type;   congenital ichthyosiform erythroderma, wet type;   congenital ichthyosiform erythrodermas;   congenital non bullous ichthyosiform erythroderma;   congenital nonbullous ichthyosiform erythroderma;   ichthyosiform erythroderma;   lamellar ichthyose;   lamellar ichthyoses;   lamellar ichthyosis;   nonbullous congenital lamellar ichthyosis;   nonbullous erythroderma ichthyosiforme
 broad_synonym: CONGENITAL ICHTHYOSIS OF SKIN
 related_synonym: lamellar desquamation of the newborn
 primary_id: MESH:D016113
 alt_id: DOID:1699
 xref: NCI:C84805;   OMIM:PS242300;   ORDO:281097



show annotations for term's descendants           Sort by:
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:9536098 PMID:16116617 PMID:16199547 PMID:17576681 PMID:18347291 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:28875980 PMID:30578701 PMID:33492757 NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 More... NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P RGD PMID:9195225 RGD:1601069 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:3757302 PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 More... NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31012992 More... NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 More... NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma ClinVar PMID:29417556 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16675967 PMID:12915478 RGD:1598548 NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21739938 PMID:11773004 RGD:1599073 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
JBrowse link
G Tgm1 transglutaminase 1 ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
OMIM:242300
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... RGD:1599417 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 ClinVar PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO
ISS
OMIM:615024
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
OMIM
MouseDO
CTD
ClinVar
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp14 caspase 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12
OMIM
CTD
ClinVar
PMID:25741868 PMID:27494380 PMID:28492532 NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405
JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO
ISS
OMIM:617574
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 OMIM
ClinVar
PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD
ClinVar
PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:17496163 PMID:28575648 NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
OMIM
CTD
ClinVar
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19262603 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO
ISS
OMIM:242500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
OMIM
MouseDO
CTD
ClinVar
PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G Cst6 cystatin E/M ISS OMIM:242500 MouseDO NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISS OMIM:242500 MouseDO NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
G Prss8 serine protease 8 ISS OMIM:242500 MouseDO NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5
OMIM
CTD
ClinVar
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 More... NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipn lipase, family member N ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers3 ceramide synthase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9
OMIM
CTD
ClinVar
PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
JBrowse link
Chanarin-Dorfman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO
ISS
OMIM:275630
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM
MouseDO
CTD
ClinVar
PMID:6181472 PMID:11590543 PMID:15136565 PMID:20022472 PMID:20520629 More... NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More... NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367
JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 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 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar
PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO
ISS
OMIM:256500
ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 More... NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma ClinVar PMID:25774499 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 More... NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    physical disorder 4940
      autosomal recessive congenital ichthyosis 51
        Autosomal Recessive Congenital Ichthyosis 12 1
        Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
        CHILD syndrome 1
        Chanarin-Dorfman syndrome + 22
        Ichthyosis Congenita with Biliary Atresia 0
        Ketoadipicaciduria 0
        Netherton syndrome 3
        Reticular Erythrokeratoderma 2
        Self-Healing Collodion Baby 0
        autosomal recessive congenital ichthyosis 1 + 8
        autosomal recessive congenital ichthyosis 10 2
        autosomal recessive congenital ichthyosis 11 1
        autosomal recessive congenital ichthyosis 13 1
        autosomal recessive congenital ichthyosis 14 1
        autosomal recessive congenital ichthyosis 2 3
        autosomal recessive congenital ichthyosis 3 2
        autosomal recessive congenital ichthyosis 4A 1
        autosomal recessive congenital ichthyosis 4B 4
        autosomal recessive congenital ichthyosis 5 1
        autosomal recessive congenital ichthyosis 6 1
        autosomal recessive congenital ichthyosis 7 0
        autosomal recessive congenital ichthyosis 8 1
        autosomal recessive congenital ichthyosis 9 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            skin disease 3916
              Skin Abnormalities 1292
                ichthyosis 90
                  autosomal recessive congenital ichthyosis 51
                    Autosomal Recessive Congenital Ichthyosis 12 1
                    Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
                    CHILD syndrome 1
                    Chanarin-Dorfman syndrome + 22
                    Ichthyosis Congenita with Biliary Atresia 0
                    Ketoadipicaciduria 0
                    Netherton syndrome 3
                    Reticular Erythrokeratoderma 2
                    Self-Healing Collodion Baby 0
                    autosomal recessive congenital ichthyosis 1 + 8
                    autosomal recessive congenital ichthyosis 10 2
                    autosomal recessive congenital ichthyosis 11 1
                    autosomal recessive congenital ichthyosis 13 1
                    autosomal recessive congenital ichthyosis 14 1
                    autosomal recessive congenital ichthyosis 2 3
                    autosomal recessive congenital ichthyosis 3 2
                    autosomal recessive congenital ichthyosis 4A 1
                    autosomal recessive congenital ichthyosis 4B 4
                    autosomal recessive congenital ichthyosis 5 1
                    autosomal recessive congenital ichthyosis 6 1
                    autosomal recessive congenital ichthyosis 7 0
                    autosomal recessive congenital ichthyosis 8 1
                    autosomal recessive congenital ichthyosis 9 1
paths to the root