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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:ichthyosis
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Accession:DOID:1697 term browser browse the term
Definition:Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Synonyms:exact_synonym: Ichthyoses;   Xeroderma;   Xerodermas;   non-syndromic ichthyosis
 narrow_synonym: Ichthyosis, ASPRV1-related
 primary_id: MESH:D007057;   RDO:0001008
 alt_id: OMIA:002099
 xref: NCI:C84776;   ORDO:79354
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ichthyosis 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: Ichthyosis ClinVar PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chr 5:10,610,094...10,650,315 JBrowse link
G KRT2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
JBrowse link
G MDM2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis
CTD
ClinVar
PMID:22246504 PMID:26691440 NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr14:72,245,526...72,272,948
Ensembl chr14:72,245,600...72,277,049
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:7773290 PMID:9593710 PMID:16968736 PMID:19241467 PMID:22437313 PMID:24824130 PMID:25741868 PMID:27025581 NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr 5:22,435,636...22,519,276 JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr11:774,090...781,252 JBrowse link
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 PMID:15756637 PMID:17508018 PMID:19262603 PMID:20849526 PMID:25741868 PMID:28492532 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Ichthyosiform erythroderma, nonbullous congenital
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar PMID:16116617 PMID:18347291 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 PMID:29130490 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,471...62,103,971
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,807,054...65,826,799
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar PMID:3757302 PMID:24344921 PMID:28369476 PMID:28403545 NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Congenital ichthyosis of skin ClinVar PMID:25741868 NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,086
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379 PMID:11407995 PMID:11511296 PMID:16968736 PMID:19212342 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:21895619 PMID:22801880 PMID:23895935 PMID:24033266 PMID:24419105 PMID:25741868 PMID:26076875 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
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:12915478 PMID:16675967 RGD:1598548 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,201...27,056,744
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11773004 PMID:21739938 RGD:1599073 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
JBrowse link
G TGM1 transglutaminase 1 ISO OMIM NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,021,761...75,047,300
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,072,899
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA1 patatin like phospholipase domain containing 1 ISO OMIM NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,396...32,025,245
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 OMIM NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,771
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 OMIM NCBI chr 2:62,522,294...62,531,594
Ensembl chr 2:62,521,997...62,531,539
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 OMIM NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,086
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 OMIM NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
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 OMIM NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
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:25741868 PMID:30578701 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:17496163 PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443
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 OMIM NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
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 OMIM NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
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 OMIM NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,763...117,451,261
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 OMIM NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,471...62,103,971
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 OMIM NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,807,054...65,826,799
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100156277 lipase member N ISO OMIM NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,692,254...100,711,638
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 OMIM NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874
JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO OMIM NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
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 OMIM NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,194...123,929,117
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,824
JBrowse link
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
JBrowse link
epidermolytic hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis ClinVar NCBI chr13:31,262,750...31,295,112 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
JBrowse link
G GJB4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
JBrowse link
G KRT1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A OMIM
RGD
PMID:11286616 RGD:1600166 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human) OMIM
RGD
PMID:7512983 RGD:1600168 NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
JBrowse link
Epidermolytic Hyperkeratosis, Late-Onset 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: Epidermolytic hyperkeratosis, late-onset ClinVar PMID:12648226 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr11:774,090...781,252 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 OMIM NCBI chr14:46,469,462...46,520,175
Ensembl chr14:46,469,466...46,520,135
JBrowse link
Ichthyosis Exfoliativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis exfoliativa ClinVar PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092
JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SREBF1 sterol regulatory element binding transcription factor 1 ISO OMIM NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr11:774,090...781,252 JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:18,013,360...18,054,250 JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:32497488 PMID:32902915 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO OMIM NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC27A4 solute carrier family 27 member 4 ISO OMIM NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,756,680...268,788,791
JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL4 ELOVL fatty acid elongase 4 ISO OMIM NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,838...86,196,010
JBrowse link
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL1 ELOVL fatty acid elongase 1 ISO OMIM NCBI chr 6:167,881,357...167,886,125
Ensembl chr 6:167,881,352...167,886,124
JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:9285800 PMID:9819448 PMID:10049954 PMID:10508996 PMID:10596881 PMID:10903123 PMID:10982182 PMID:11074495 PMID:11386851 PMID:11556849 PMID:11668644 PMID:11935342 PMID:15967879 PMID:16380907 PMID:17666888 PMID:18414213 PMID:19125024 PMID:20739944 PMID:21465647 PMID:22567369 PMID:22695344 PMID:22785241 PMID:24033266 PMID:24158611 PMID:24529908 PMID:25741868 PMID:26096904 PMID:26236732 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr11:774,090...781,252 JBrowse link
keratosis pilaris atrophicans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO OMIM NCBI chr 5:22,435,636...22,519,276 JBrowse link
Lamellar Ichthyosis, Autosomal Dominant Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPRV1 aspartic peptidase retroviral like 1 ISO OMIM NCBI chr 3:72,323,958...72,536,564
Ensembl chr 3:72,381,330...72,494,507
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA glucosylceramidase beta severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chr 2:149,309,482...149,382,286
Ensembl chr 2:149,251,308...149,382,282
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,771
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHGDH phosphoglycerate dehydrogenase ISO OMIM NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,363
JBrowse link
neutral lipid storage disease 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 OMIM NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,201...27,056,744
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:28492532 NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:9536098 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25741868 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,076...518,187
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 OMIM NCBI chr 2:513,065...517,962
Ensembl chr 2:513,076...518,187
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 ISO OMIM NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,767...127,730,657
JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927 PMID:15521008 PMID:16619213 NCBI chr13:127,808,599...127,831,081
Ensembl chr13:127,808,599...127,830,717
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO OMIM NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823 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: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:25774499 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 ISO OMIM NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
JBrowse link
Sjogren-Larsson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO OMIM NCBI chr12:59,936,838...59,953,677
Ensembl chr12:59,936,848...59,954,596
JBrowse link
G LOC100737030 keratin, type I cytoskeletal 42 ISO ClinVar Annotator: match by term: Sjögren-Larsson syndrome ClinVar PMID:10971341 PMID:29130490 NCBI chr12:21,014,182...21,022,123 JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIM1 stromal interaction molecule 1 ISO OMIM NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr  X:4,540,846...4,623,831
NCBI chr  Y:3,287,635...3,369,286
JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr  X:3,577,487...3,876,142
NCBI chr  Y:2,681,502...2,701,629
JBrowse link
G STS steroid sulfatase ISO OMIM NCBI chr  X:3,926,027...4,076,900
NCBI chr  Y:2,747,102...2,828,322
JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:18,013,360...18,054,250 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13472
    sensory system disease 4946
      skin disease 2537
        ichthyosis 54
          Acquired Ichthyosis 0
          CHIME syndrome 1
          Camptodactyly-Ichthyosis Syndrome 0
          Cataract and Congenital Ichthyosis 0
          Congenital Ichthyosis with Trichothiodystrophy + 2
          Deal Barratt Dillon Syndrome 0
          Dykes Markes Harper Syndrome 0
          Grover's Disease 0
          HID Syndrome 1
          ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
          IFAP Syndrome + 3
          Ichthyosis Cheek Eyebrow Syndrome 0
          Ichthyosis Exfoliativa 1
          Ichthyosis Hystrix Gravior 0
          Ichthyosis Hystrix, Curth Macklin Type 1
          Ichthyosis Prematurity Syndrome 1
          Ichthyosis Tapered Fingers Midline Groove Up 0
          Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
          Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
          Ichthyosis, Split Hairs, and Amino Aciduria 0
          Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
          Jagell Holmgren Hofer Syndrome 0
          Keratitis-Ichthyosis-Deafness Syndrome + 2
          Koone Rizzo Elias Syndrome 0
          Lamellar Ichthyosis, Autosomal Dominant Form 1
          Neu-Laxova syndrome 1 2
          Nisch syndrome 2
          Osteosclerosis with Ichthyosis and Fractures 0
          Rud Syndrome 0
          Ruzicka Goerz Anton syndrome 0
          Sammartino De Crecchio Syndrome 0
          Sjogren-Larsson syndrome + 2
          Stormorken syndrome 1
          Trichodysplasia-Xeroderma 0
          X-linked ichthyosis + 3
          autosomal recessive congenital ichthyosis + 25
          bullous congenital ichthyosiform erythroderma 1
          epidermolytic hyperkeratosis + 6
          ichthyosis vulgaris + 0
          keratosis pilaris atrophicans + 2
          xeroderma of eyelid 0
Path 2
Term Annotations click to browse term
  disease 13472
    disease of anatomical entity 13134
      nervous system disease 10881
        sensory system disease 4946
          skin disease 2537
            Skin Abnormalities 596
              ichthyosis 54
                Acquired Ichthyosis 0
                CHIME syndrome 1
                Camptodactyly-Ichthyosis Syndrome 0
                Cataract and Congenital Ichthyosis 0
                Congenital Ichthyosis with Trichothiodystrophy + 2
                Deal Barratt Dillon Syndrome 0
                Dykes Markes Harper Syndrome 0
                Grover's Disease 0
                HID Syndrome 1
                ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
                IFAP Syndrome + 3
                Ichthyosis Cheek Eyebrow Syndrome 0
                Ichthyosis Exfoliativa 1
                Ichthyosis Hystrix Gravior 0
                Ichthyosis Hystrix, Curth Macklin Type 1
                Ichthyosis Prematurity Syndrome 1
                Ichthyosis Tapered Fingers Midline Groove Up 0
                Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
                Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
                Ichthyosis, Split Hairs, and Amino Aciduria 0
                Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
                Jagell Holmgren Hofer Syndrome 0
                Keratitis-Ichthyosis-Deafness Syndrome + 2
                Koone Rizzo Elias Syndrome 0
                Lamellar Ichthyosis, Autosomal Dominant Form 1
                Neu-Laxova syndrome 1 2
                Nisch syndrome 2
                Osteosclerosis with Ichthyosis and Fractures 0
                Rud Syndrome 0
                Ruzicka Goerz Anton syndrome 0
                Sammartino De Crecchio Syndrome 0
                Sjogren-Larsson syndrome + 2
                Stormorken syndrome 1
                Trichodysplasia-Xeroderma 0
                X-linked ichthyosis + 3
                autosomal recessive congenital ichthyosis + 25
                bullous congenital ichthyosiform erythroderma 1
                epidermolytic hyperkeratosis + 6
                ichthyosis vulgaris + 0
                keratosis pilaris atrophicans + 2
                xeroderma of eyelid 0
paths to the root