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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

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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:12915478 PMID:15756637 PMID:16007253 PMID:17508018 More... NCBI chr10:100,759,196...100,972,307
Ensembl chr10:100,759,225...100,888,912 		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 chr16:7,454,950...7,470,949
Ensembl chr16:7,455,044...7,469,934 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 More... NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:28875980 PMID:30578701 PMID:33492757 NCBI chr29:18,883,532...19,016,790
Ensembl chr29:18,929,866...18,974,662 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 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 6:14,111,406...14,153,617
Ensembl chr 6:14,126,086...14,152,447 		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 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		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:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr23:59,848,827...59,865,369
Ensembl chr23:59,849,970...59,863,601 		JBrowse link
G PNPLA1 patatin like domain 1, omega-hydroxyceramide transacylase 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 chr17:35,808,652...35,854,069
Ensembl chr17:35,814,590...35,851,985 		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:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chr11:52,819,041...52,831,778
Ensembl chr11:52,819,957...52,830,249 		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:16199547 PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 More... NCBI chr12:9,769,242...9,788,214 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 chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma ClinVar PMID:29417556 NCBI chr12:27,575,519...27,614,114
Ensembl chr12:27,574,970...27,613,811 		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 RGD
CTD		 PMID:12915478 PMID:16675967 RGD:1598548 NCBI chr10:100,759,196...100,972,307
Ensembl chr10:100,759,225...100,888,912 		JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr22:5,109,699...5,139,021
Ensembl chr22:5,109,765...5,137,673 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr16:7,454,950...7,470,949
Ensembl chr16:7,455,044...7,469,934 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11773004 PMID:21739938 RGD:1599073 NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428 		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 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: TGM1-related condition OMIM
ClinVar		 PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462 		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 chr24:1,222,617...1,225,981
Ensembl chr24:1,222,999...1,225,716 		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 2:739,965...803,575
Ensembl chr 2:761,952...802,999 		JBrowse link
G PNPLA1 patatin like domain 1, omega-hydroxyceramide transacylase ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition OMIM
ClinVar		 PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chr17:35,808,652...35,854,069
Ensembl chr17:35,814,590...35,851,985 		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 | ClinVar Annotator: match by term: ST14-related condition OMIM
ClinVar		 PMID:9450882 PMID:12207612 PMID:17273967 PMID:18263585 PMID:18445049 More... NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		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 6:13,649,993...13,654,309
Ensembl chr 6:13,648,598...13,652,821 		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 ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chr11:52,819,041...52,831,778
Ensembl chr11:52,819,957...52,830,249 		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 | ClinVar Annotator: match by term: SULT2B1-related condition OMIM
ClinVar		 PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 NCBI chr 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681 		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 OMIM
ClinVar		 PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chr16:7,454,950...7,470,949
Ensembl chr16:7,455,044...7,469,934 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 PMID:25741868 More... NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428 		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 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681 		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 ClinVar Annotator: match by term: ALOXE3-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 OMIM
ClinVar		 PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More... NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305 		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: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A OMIM
ClinVar		 PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16007253 More... NCBI chr10:100,759,196...100,972,307
Ensembl chr10:100,759,225...100,888,912 		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 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) OMIM
ClinVar		 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 More... NCBI chr10:100,759,196...100,972,307
Ensembl chr10:100,759,225...100,888,912 		JBrowse link
G CST6 cystatin E/M ISO OMIM:242500 MouseDO NCBI chr 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO OMIM:242500 MouseDO NCBI chr  X:13,787,658...13,803,575
Ensembl chr  X:13,787,646...13,803,405 		JBrowse link
G PRSS8 serine protease 8 ISO OMIM:242500 MouseDO NCBI chr 5:27,820,898...27,827,873
Ensembl chr 5:27,817,830...27,824,926 		JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: CYP4F22-related condition | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More... NCBI chr 6:14,111,406...14,153,617
Ensembl chr 6:14,126,086...14,152,447 		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 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr23:59,848,827...59,865,369
Ensembl chr23:59,849,970...59,863,601 		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 | ClinVar Annotator: match by term: LIPN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:82,182,344...82,201,550
Ensembl chr 9:82,185,101...82,201,549 		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 | ClinVar Annotator: match by term: CERS3-related condition OMIM
ClinVar		 PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 NCBI chr29:18,883,532...19,016,790
Ensembl chr29:18,929,866...18,974,662 		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 ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis 		OMIM
ClinVar		 PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 More... NCBI chr22:5,109,699...5,139,021
Ensembl chr22:5,109,765...5,137,673 		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 chr22:4,807,612...5,050,437
Ensembl chr22:4,805,218...5,050,158 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:435,562...443,116
Ensembl chr 1:435,622...443,156 		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 1:590,581...593,599
Ensembl chr 1:591,585...592,043 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:487,497...510,440 JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:454,018...459,582 JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:523,811...540,781
Ensembl chr 1:523,524...540,803 		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 1:575,986...583,503
Ensembl chr 1:573,706...583,479 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:430,412...433,959
Ensembl chr 1:429,310...432,925 		JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:370,216...374,411
Ensembl chr 1:370,338...374,345 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633 		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 1:391,692...429,982
Ensembl chr 1:397,520...429,668 		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 1:602,594...609,388
Ensembl chr 1:602,721...607,893 		JBrowse link
G PNPLA2 patatin like domain 2, triacylglycerol lipase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More... NCBI chr 1:626,060...631,556 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 1:374,723...379,582
Ensembl chr 1:376,405...379,640 		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 1:617,401...620,656
Ensembl chr 1:612,490...620,805 		JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:444,487...445,535
Ensembl chr 1:444,601...445,339 		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 1:593,914...601,603
Ensembl chr 1:593,890...598,585 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:553,475...569,935
Ensembl chr 1:553,458...573,546 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:510,440...521,231 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 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Child syndrome | ClinVar Annotator: match by term: NSDHL-related condition OMIM
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:127,342,788...127,389,117
Ensembl chr  X:127,342,850...127,390,536 		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 chr19:12,195,981...12,259,289
Ensembl chr19:12,195,755...12,259,272 		JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C23H5orf46 chromosome 23 C5orf46 homolog ISO ClinVar Annotator: match by term: Ichthyosis linearis circumflexa ClinVar PMID:11511292 PMID:11841556 PMID:16601670 PMID:28492532 PMID:31795557 More... NCBI chr23:50,425,415...50,443,024 JBrowse link
G GBA1 glucosylceramidase beta 1 severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990 		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 chr23:50,327,428...50,417,518
Ensembl chr23:50,414,139...50,417,373 		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 chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome | ClinVar Annotator: match by term: SPINK5-related condition OMIM
ClinVar		 PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 More... NCBI chr23:50,587,698...50,667,219
Ensembl chr23:50,592,412...50,663,302 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		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 domain 2, triacylglycerol lipase ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar		 PMID:21170305 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr 1:626,060...631,556 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 chr11:48,810,671...48,817,436
Ensembl chr11:48,810,677...48,816,363 		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 chr16:65,361,893...65,367,634
Ensembl chr16:65,362,903...65,367,941 		JBrowse link
G LOC103243487 transmembrane protein 99 (putative) ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 More... NCBI chr16:65,350,270...65,351,125 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15618
    physical disorder 5141
      autosomal recessive congenital ichthyosis 53
        Autosomal Recessive Congenital Ichthyosis 12 1
        Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
        CHILD syndrome 1
        Chanarin-Dorfman syndrome + 21
        Ichthyosis Congenita with Biliary Atresia 0
        Ketoadipicaciduria 0
        Netherton syndrome 6
        Reticular Erythrokeratoderma 3
        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 15618
    disease of anatomical entity 15271
      nervous system disease 13385
        Neurologic Manifestations 9913
          sensory system disease 6970
            skin disease 4111
              Skin Abnormalities 1308
                ichthyosis 93
                  autosomal recessive congenital ichthyosis 53
                    Autosomal Recessive Congenital Ichthyosis 12 1
                    Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
                    CHILD syndrome 1
                    Chanarin-Dorfman syndrome + 21
                    Ichthyosis Congenita with Biliary Atresia 0
                    Ketoadipicaciduria 0
                    Netherton syndrome 6
                    Reticular Erythrokeratoderma 3
                    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