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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.


GViewer not supported for chinchilla.
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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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Ichthyosis ClinVar PMID:24824130 NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
JBrowse link
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:18780604 RGD:12743608 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Ichthyosis ClinVar NCBI chrNW_004955413:23,623,567...23,640,245
Ensembl chrNW_004955413:23,623,154...23,640,259
JBrowse link
G Krt2 keratin 2 susceptibility ISO DNA:mutations RGD PMID:7524919 RGD:1600192 NCBI chrNW_004955547:3,027,767...3,035,244
Ensembl chrNW_004955547:3,027,767...3,035,244
JBrowse link
G Mdm2 MDM2 proto-oncogene treatment ISO RGD PMID:24005053 RGD:10412066 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808
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 chrNW_004955437:4,008,814...4,047,895
Ensembl chrNW_004955437:4,008,545...4,048,033
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO RGD PMID:18832587 RGD:10043094 NCBI chrNW_004955416:7,715,536...7,728,759
Ensembl chrNW_004955416:7,715,536...7,729,158
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chrNW_004955437:21,880,778...21,905,540
Ensembl chrNW_004955437:21,877,666...21,906,362
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 chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146
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 chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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 chrNW_004955457:885,941...1,062,713
Ensembl chrNW_004955457:879,510...1,062,713
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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
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 chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G LOC102004294 cytochrome P450 4F22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chrNW_004955495:7,730,881...7,763,684
Ensembl chrNW_004955495:7,730,826...7,763,684
JBrowse link
G Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chrNW_004955408:11,635,724...11,648,359
Ensembl chrNW_004955408:11,635,724...11,650,942
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 chrNW_004955437:4,008,814...4,047,895
Ensembl chrNW_004955437:4,008,545...4,048,033
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 chrNW_004955458:4,538,113...4,551,586
Ensembl chrNW_004955458:4,537,943...4,551,704
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 chrNW_004955457:885,941...1,062,713
Ensembl chrNW_004955457:879,510...1,062,713
JBrowse link
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chrNW_004955420:27,484,500...27,508,360
Ensembl chrNW_004955420:27,482,709...27,508,360
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11773004 PMID:21739938 RGD:1599073 NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chrNW_004955559:1,942,878...1,968,895 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 chrNW_004955437:4,008,814...4,047,895
Ensembl chrNW_004955437:4,008,545...4,048,033
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 chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
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 chrNW_004955495:8,214,512...8,221,124
Ensembl chrNW_004955495:8,213,763...8,221,616
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 chrNW_004955458:4,538,113...4,551,586
Ensembl chrNW_004955458:4,537,943...4,551,704
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 chrNW_004955559:1,942,878...1,968,895 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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
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 chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
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 chrNW_004955559:1,942,878...1,968,895 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 chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684
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 chrNW_004955457:885,941...1,062,713
Ensembl chrNW_004955457:879,510...1,062,713
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 chrNW_004955457:885,941...1,062,713
Ensembl chrNW_004955457:879,510...1,062,713
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102004294 cytochrome P450 4F22 ISO OMIM NCBI chrNW_004955495:7,730,881...7,763,684
Ensembl chrNW_004955495:7,730,826...7,763,684
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 chrNW_004955408:11,635,724...11,648,359
Ensembl chrNW_004955408:11,635,724...11,650,942
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 OMIM NCBI chrNW_004955425:4,187,537...4,205,066
Ensembl chrNW_004955425:4,187,537...4,205,066
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 chrNW_004955416:27,461,950...27,577,145
Ensembl chrNW_004955416:27,461,335...27,536,188
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 chrNW_004955547:3,027,767...3,035,244
Ensembl chrNW_004955547:3,027,767...3,035,244
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 chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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 chrNW_004955467:1,566,494...1,645,158 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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
JBrowse link
G Krt10 keratin 10 ISO OMIM NCBI chrNW_004955451:15,269,861...15,274,351
Ensembl chrNW_004955451:15,270,222...15,274,312
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 chrNW_004955532:650,913...681,186 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Gjb3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
JBrowse link
G Gjb4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chrNW_004955452:12,871,548...12,874,019
Ensembl chrNW_004955452:12,871,548...12,874,019
JBrowse link
G Krt1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A OMIM
RGD
PMID:11286616 RGD:1600166 NCBI chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
JBrowse link
G Krt10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human) OMIM
RGD
PMID:7512983 RGD:1600168 NCBI chrNW_004955451:15,269,861...15,274,351
Ensembl chrNW_004955451:15,270,222...15,274,312
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
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 chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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 chrNW_004955455:3,632,053...3,686,007
Ensembl chrNW_004955455:3,632,053...3,686,046
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 chrNW_004955547:3,027,767...3,035,244
Ensembl chrNW_004955547:3,027,767...3,035,244
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 chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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 chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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 chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
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 chrNW_004955570:853,856...866,383
Ensembl chrNW_004955570:853,849...866,383
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 chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572
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 chrNW_004955537:2,945,509...2,950,146
Ensembl chrNW_004955537:2,945,509...2,950,146
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 chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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 chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146
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 chrNW_004955424:15,190,746...15,193,270 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 chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Spink5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chrNW_004955415:6,118,616...6,186,632 JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
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 chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412
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 chrNW_004955420:27,484,500...27,508,360
Ensembl chrNW_004955420:27,482,709...27,508,360
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:28492532 NCBI chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269
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 chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181
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 chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181
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 chrNW_004955420:17,798,974...17,815,049
Ensembl chrNW_004955420:17,798,974...17,815,205
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 chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004955460:3,560,046...3,562,002
Ensembl chrNW_004955460:3,560,046...3,562,344
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 chrNW_004955458:25,193...29,282
Ensembl chrNW_004955458:25,187...29,208
JBrowse link
G Krt10 keratin 10 ISO OMIM NCBI chrNW_004955451:15,269,861...15,274,351
Ensembl chrNW_004955451:15,270,222...15,274,312
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 chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742
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 chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964
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 chrNW_004955499:5,875,706...5,925,809
Ensembl chrNW_004955499:5,892,761...5,924,736
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chrNW_004955499:5,110,297...5,181,487
Ensembl chrNW_004955499:5,111,615...5,181,645
JBrowse link
G Sts steroid sulfatase ISO OMIM NCBI chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
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 chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    sensory system disease 4609
      skin disease 2353
        ichthyosis 51
          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 + 1
          Stormorken syndrome 1
          Trichodysplasia-Xeroderma 0
          X-linked ichthyosis + 3
          autosomal recessive congenital ichthyosis + 23
          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 12530
    disease of anatomical entity 12210
      nervous system disease 10128
        sensory system disease 4609
          skin disease 2353
            Skin Abnormalities 573
              ichthyosis 51
                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 + 1
                Stormorken syndrome 1
                Trichodysplasia-Xeroderma 0
                X-linked ichthyosis + 3
                autosomal recessive congenital ichthyosis + 23
                bullous congenital ichthyosiform erythroderma 1
                epidermolytic hyperkeratosis + 6
                ichthyosis vulgaris + 0
                keratosis pilaris atrophicans + 2
                xeroderma of eyelid 0
paths to the root