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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:autosomal recessive congenital ichthyosis
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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: MIM:PS242300;   NCI:C84805;   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:17139268 PMID:17576681 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 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:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 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 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:22833457 PMID:28492532 NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337 		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 P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		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:30578701 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 Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:21681116 PMID:25741868 PMID:27551684 PMID:28492532 PMID:31455392 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		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 epidermal 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 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 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		 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition
OMIM:615024		 OMIM
ClinVar
MouseDO		 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:18263585 PMID:18445049 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 ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 OMIM
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		 ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition
OMIM:617574		 OMIM
ClinVar
MouseDO		 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: ALOX12B-related condition | 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 epidermal 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 epidermal 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 Gucy2e guanylate cyclase 2E 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:16199547 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		 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
OMIM:242500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 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 OMIM
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
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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 OMIM
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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 OMIM
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		 ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM:275630
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 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 C18h5orf46 similar to human chromosome 5 open reading frame 46 ISO ClinVar Annotator: match by term: Ichthyosis linearis circumflexa ClinVar PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 More... NCBI chr18:35,948,402...35,969,502
Ensembl chr18:35,948,402...35,969,502 		JBrowse link
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 Scgb3a2 secretoglobin, family 3A, member 2 ISO ClinVar Annotator: match by term: Ichthyosis linearis circumflexa ClinVar PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 More... NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762 		JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Ichthyosis linearis circumflexa ClinVar PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 More... NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642 		JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO
ISS		 ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome
OMIM:256500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
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 PMID:35460704 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 | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI OMIM
ClinVar		 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 19065
    physical disorder 5166
      autosomal recessive congenital ichthyosis 57
        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 6
        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 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        Neurologic Manifestations 10322
          sensory system disease 7235
            skin disease 4183
              Skin Abnormalities 1318
                ichthyosis 97
                  autosomal recessive congenital ichthyosis 57
                    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 6
                    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