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
Accession: DOID:1697
browse the term
Definition: A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. (DO)
Synonyms: exact_synonym: Ichthyoses; non-syndromic ichthyosis; xeroderma; xerodermas
narrow_synonym: Ichthyosis, ASPRV1-related
primary_id: MESH:D007057
alt_id: OMIA:002099
xref: NCI:C84776 ; ORDO:79354
For additional species annotation, visit the
Alliance of Genome Resources .
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:34008892 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:24824130 PMID:26274329 PMID:26578203 PMID:30270455
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Asprv1
aspartic peptidase, retroviral-like 1
ISO
Ichthyosis, ASPRV1-related
OMIA
PMID:28249031 PMID:34796560
NCBI chr 4:119,076,169...119,078,887
Ensembl chr 4:119,077,356...119,078,379
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:25741868
NCBI chr 2:178,888,688...178,912,731
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum:
RGD
PMID:18780604
RGD:12743608
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il2rb
interleukin 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Krt2
keratin 2
susceptibility
ISO
DNA:mutations
RGD
PMID:7524919
RGD:1600192
NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
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Mdm2
MDM2 proto-oncogene
treatment
IMP ISO
RGD
PMID:24005053 PMID:24005053
RGD:10412066 , RGD:10412066
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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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 PMID:26778108
NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
RGD
PMID:18832587
RGD:10043094
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Supv3l1
Suv3 like RNA helicase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19145458
NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:24824130 PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis
ClinVar
PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:31046801 More...
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Annular epidermolytic ichthyosis
CTD ClinVar
PMID:22035476 PMID:25741868 PMID:28492532
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt10
keratin 10
ISO
OMIM
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2
OMIM ClinVar
PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 More...
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Gjb2
gap junction protein, beta 2
ISO
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar OMIM RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28590052 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
RGD:7364809 , RGD:7364885 , RGD:7364889 , RGD:7364813 , RGD:7364811
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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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:15756637 PMID:17508018 PMID:17684380 PMID:19262603 PMID:20672373 PMID:20849526 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:31586585 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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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:17139268 PMID:17576681 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23621129 PMID:24033266 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:31642606 PMID:33435499 PMID:34008892 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003 PMID:30270455 PMID:33435499 PMID:33786896 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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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:25741868 PMID:26056268 PMID:26646773 PMID:28492532 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33786896 More...
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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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
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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
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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 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:31046801 PMID:33786896 More...
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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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
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Pnpla1
patatin-like phospholipase domain containing 1
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin
ClinVar
PMID:3757302 PMID:24344921 PMID:26691440 PMID:26778108 PMID:28369476 PMID:28403545 More...
NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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Sdr9c7
short chain dehydrogenase/reductase family 9C, member 7
ISO
ClinVar Annotator: match by term: Congenital ichthyosis of skin
ClinVar
PMID:25741868
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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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:27025581 PMID:28492532
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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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:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10482949 PMID:10914678 PMID:11407995 PMID:11511296 PMID:14996130 PMID:16968736 PMID:18948357 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:20663883 PMID:21895619 PMID:22258055 PMID:22801880 PMID:23096117 PMID:23278109 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:25154629 PMID:25525159 PMID:25741868 PMID:26076875 PMID:26594337 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 PMID:30578701 PMID:30693114 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Ugcg
UDP-glucose ceramide glucosyltransferase
ISO
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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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
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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
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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
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Aloxe3
arachidonate lipoxygenase 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21739938 PMID:11773004
RGD:1599073
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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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
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar OMIM RGD
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10886517 PMID:10914678 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16133457 PMID:16199547 PMID:16280294 PMID:16908342 PMID:16968736 PMID:16977323 PMID:17635512 PMID:18669893 PMID:18948357 PMID:19156839 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19500103 PMID:19863506 PMID:19890349 PMID:20021785 PMID:20137757 PMID:20167857 PMID:20301779 PMID:20522418 PMID:20663883 PMID:21199492 PMID:21668430 PMID:21895619 PMID:22211879 PMID:22258055 PMID:22311480 PMID:22437313 PMID:22511925 PMID:22622417 PMID:22801880 PMID:22992804 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23621129 PMID:23689228 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:24824130 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25998749 PMID:26076875 PMID:26220141 PMID:26594337 PMID:26620441 PMID:26762237 PMID:26990434 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28488422 PMID:28492532 PMID:30578701 PMID:30600594 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:7824952 More...
RGD:1599417
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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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 PMID:28492532 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Pnpla1
patatin-like phospholipase domain containing 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
OMIM ClinVar
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:26778108 PMID:27884173 PMID:27884779 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30409984 PMID:33727708 More...
NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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St14
ST14 transmembrane serine protease matriptase
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:25741868 PMID:28492532 PMID:29611532 More...
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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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
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Sdr9c7
short chain dehydrogenase/reductase family 9C, member 7
ISO
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13
OMIM ClinVar
PMID:25741868 PMID:28173123 PMID:28369735
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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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
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
OMIM ClinVar
PMID:11773004 PMID:16116617 PMID:17139268 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:22622417 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25524567 PMID:25741868 PMID:25998749 PMID:26762237 PMID:26863999 PMID:27025581 PMID:28492532 PMID:31046801 PMID:31168818 PMID:31642606 PMID:33435499 PMID:34008892 PMID:35052464 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD ClinVar
PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:30578701 PMID:31046801 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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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
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
OMIM ClinVar
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 PMID:19131948 PMID:19890349 PMID:21668430 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:30270455 PMID:30578701 PMID:31046801 PMID:32978145 PMID:33435499 PMID:33786896 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
ClinVar
PMID:24824130
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Abca12
ATP binding cassette subfamily A member 12
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A
OMIM ClinVar
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19262603 PMID:19664001 PMID:22257947 PMID:23528209 PMID:25741868 PMID:28295493 PMID:28492532 PMID:29722424 PMID:29887490 PMID:30600594 PMID:30916489 PMID:32851342 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Abca12
ATP binding cassette subfamily A member 12
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
OMIM ClinVar
PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:29543227 PMID:30916489 PMID:31586585 PMID:34906502 PMID:35216886 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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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
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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
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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
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Cyp4f39
cytochrome P450, family 4, subfamily f, polypeptide 39
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5
OMIM ClinVar
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896 More...
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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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 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:28492532 PMID:31046801 PMID:33786896 More...
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Lipn
lipase, family member N
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
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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
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Krt2
keratin 2
ISO
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens
OMIM ClinVar
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:25741868 PMID:28492532 More...
NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
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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:18414213 PMID:21290788 PMID:25526675 PMID:25741868 PMID:28492532 More...
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Pigl
phosphatidylinositol glycan anchor biosynthesis, class L
ISO
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
OMIM ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 PMID:30023290 More...
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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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:9651581 PMID:15982307 PMID:19931493 PMID:20944642 PMID:22234153 PMID:23039039 PMID:23221806 PMID:23232694 PMID:24033266 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17050553
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Gjb3
gap junction protein, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16297190
NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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Gjb4
gap junction protein, beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16297190
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
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Jup
junction plakoglobin
ISS
OMIM:113800
MouseDO
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Krt1
keratin 1
susceptibility
ISO
DNA:mutation: ; 5191/5192GG>A ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar OMIM RGD
PMID:1380725 PMID:1381288 PMID:7511022 PMID:7512983 PMID:11531804 PMID:11559215 PMID:12406348 PMID:25741868 PMID:26581228 PMID:28492532 PMID:33363884 PMID:11286616 More...
RGD:1600166
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
susceptibility
ISO
DNA:mutations:cds: p.R156C (human) ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar OMIM RGD
PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 PMID:7512983 PMID:7526210 PMID:16505000 PMID:19474805 PMID:20302579 PMID:22930352 PMID:24001792 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 PMID:7512983 More...
RGD:1600168
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis, late-onset
ClinVar
PMID:12648226
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
OMIM ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21055240 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28590052 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 PMID:33452671 PMID:35144013 More...
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: IFAP syndrome 2
OMIM ClinVar
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar
PMID:25741868
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Mbtps2
membrane-bound transcription factor peptidase, site 2
ISO
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
OMIM ClinVar
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 PMID:24313295 PMID:25741868 PMID:28492532 More...
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Krt10
keratin 10
ISO
OMIM
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
G
Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type
OMIM ClinVar
PMID:16417221 PMID:21844476 PMID:22834809
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
G
Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome
OMIM ClinVar
PMID:19631310 PMID:21450060 PMID:25741868 PMID:27025581 PMID:27081519 PMID:28492532 PMID:30536735 More...
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
G
Flg
filaggrin
ISO
DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human) ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Ichthyosis vulgaris CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18200065 PMID:18239616 PMID:18325573 PMID:18396323 PMID:18662816 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19663875 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21428977 PMID:21514438 PMID:21564328 PMID:21777221 PMID:21923666 PMID:22220561 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24061166 PMID:24251354 PMID:24565632 PMID:24608987 PMID:24629053 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:25997159 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:27519469 PMID:28120571 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28407221 PMID:28492532 PMID:28730607 PMID:29054605 PMID:29056476 PMID:29068602 PMID:29130490 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:33116287 PMID:34008892 PMID:16444271 More...
RGD:1598947
NCBI chr 2:178,888,688...178,912,731
G
Lbr
lamin B receptor
ISS
OMIM:146700
MouseDO
NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
G
Elovl4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
OMIM ClinVar
PMID:22100072 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
G
Elovl1
ELOVL fatty acid elongase 1
ISO
ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
OMIM ClinVar
PMID:28492532 PMID:29496980 PMID:30487246 PMID:35379526
NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958
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:20301449 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:28428247 PMID:28492532 PMID:30311386 PMID:31160754 More...
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
C12h12orf43
similar to human chromosome 12 open reading frame 43
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
ClinVar
PMID:30561130
NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714
G
Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
ClinVar
PMID:30561130
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
G
Vps33b
VPS33B, late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
OMIM ClinVar
PMID:28017832
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
G
Lrp1
LDL receptor related protein 1
ISO
OMIM
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
G
Asprv1
aspartic peptidase, retroviral-like 1
ISO
ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis
OMIM ClinVar
PMID:6499258 PMID:32516568
NCBI chr 4:119,076,169...119,078,887
Ensembl chr 4:119,077,356...119,078,379
G
Gba
glucosylceramidase beta
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
G
Spink5
serine peptidase inhibitor, Kazal type 5
ISO
ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 PMID:12752122 PMID:16199547 PMID:16601670 PMID:16628198 PMID:17576681 PMID:19683336 PMID:20107740 PMID:20657595 PMID:22089833 PMID:22377713 PMID:23331056 PMID:24015757 PMID:24033266 PMID:25640679 PMID:25665175 PMID:25710899 PMID:25741868 PMID:25819062 PMID:25917539 PMID:26031502 PMID:26193622 PMID:26865388 PMID:28289593 PMID:28492532 PMID:28832989 PMID:29444371 PMID:32709676 More...
NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
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
G
Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1
OMIM ClinVar
PMID:11034457 PMID:11055895 PMID:14645240 PMID:19235232 PMID:20196394 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29018476 PMID:32404165 PMID:33758422 More...
NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
G
Psat1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
G
Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ISO
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM ClinVar
PMID:6181472 PMID:11590543 PMID:15136565 PMID:20022472 PMID:20520629 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
G
Ano10
anoctamin 10
ISO
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:11590543 PMID:28492532
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:25741868 PMID:28391974 PMID:28492532 PMID:28499397 More...
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
G
Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis
OMIM ClinVar
PMID:25741868
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
G
Cldn1
claudin 1
ISO
DNA:deletion, nonsense mutation:exon:200_201delTT(human) ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
OMIM ClinVar RGD
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:15521008 More...
RGD:11341732
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
G
Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
OMIM ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:11242112 PMID:11335038 PMID:11709541 PMID:11734544 PMID:15982307 PMID:16199547 PMID:17576681 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20944642 PMID:22234153 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24728327 PMID:25002996 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26577220 PMID:26884178 PMID:27085493 PMID:27504877 PMID:28492532 PMID:29607586 PMID:29625052 PMID:30136158 PMID:31980526 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
G
Gtf2h5
general transcription factor IIH subunit 5
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
G
Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
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
G
Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma
OMIM ClinVar
PMID:9418775 PMID:20798280 PMID:25210931 PMID:25741868 PMID:27208707 PMID:27291450 PMID:28492532 PMID:31638346 PMID:32407542 PMID:34008892 More...
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
G
Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: Sjögren-Larsson syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 PMID:9536098 PMID:9829906 PMID:10384396 PMID:10577908 PMID:10792573 PMID:10854114 PMID:11408337 PMID:15241804 PMID:15931689 PMID:16199547 PMID:16536828 PMID:16546179 PMID:16837225 PMID:16903323 PMID:17576681 PMID:17902024 PMID:17971613 PMID:17998529 PMID:18035827 PMID:19124283 PMID:19197545 PMID:19965611 PMID:20049467 PMID:21531120 PMID:21872273 PMID:21968182 PMID:22397046 PMID:23450279 PMID:24033266 PMID:25047030 PMID:25641190 PMID:25741868 PMID:25855245 PMID:27717089 PMID:28025403 PMID:28257279 PMID:28471629 PMID:28492532 PMID:29071827 PMID:29130490 PMID:29159939 PMID:29183715 PMID:29704247 PMID:30157790 PMID:30925032 PMID:31273323 PMID:31953843 PMID:32005694 More...
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
G
Krt14
keratin 14
ISO
ClinVar Annotator: match by term: Sjögren-Larsson syndrome
ClinVar
PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
G
Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
G
Rhog
ras homolog family member G
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
G
Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Stormorken syndrome
OMIM ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:17576681 PMID:19420366 PMID:20876309 PMID:22190180 PMID:23332920 PMID:24033266 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25741868 PMID:26255678 PMID:27066587 PMID:28492532 PMID:28624464 More...
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
G
Pnpla4
patatin like phospholipase domain containing 4
ISO
ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370
NCBI chr X:42,313,554...42,318,451
Ensembl chr X:42,305,373...42,318,552
G
Pudp
pseudouridine 5'-phosphatase
ISO
ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370
NCBI chr18:43,878,363...43,880,806
Ensembl chr18:43,878,080...43,880,791
G
Sts
steroid sulfatase
ISO
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis | ClinVar Annotator: match by term: Steroid sulfatase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 PMID:9252398 PMID:9623797 PMID:10679952 PMID:14641695 PMID:18413370 PMID:25741868 PMID:28492532 More...
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
G
Mbtps2
membrane-bound transcription factor peptidase, site 2
ISO
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked
OMIM ClinVar
PMID:8745901 PMID:20672378 PMID:23316014
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18256
sensory system disease
6575
skin disease
3880
keratosis
152
ichthyosis
68
Acquired Ichthyosis
0
CHIME syndrome
1
Camptodactyly-Ichthyosis Syndrome
0
Cataract and Congenital Ichthyosis
0
Congenital Ichthyosis with Trichothiodystrophy +
3
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
1
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
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
3
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
3
Trichodysplasia-Xeroderma
0
X-linked ichthyosis +
3
autosomal recessive congenital ichthyosis +
31
bullous congenital ichthyosiform erythroderma
1
epidermolytic hyperkeratosis +
7
ichthyosis vulgaris +
2
keratosis pilaris atrophicans +
2
xeroderma of eyelid
0
Path 2
disease
18256
Pathological Conditions, Signs and Symptoms
12646
Signs and Symptoms
10117
Neurologic Manifestations
9338
sensory system disease
6575
skin disease
3880
Skin Abnormalities
1081
ichthyosis
68
Acquired Ichthyosis
0
CHIME syndrome
1
Camptodactyly-Ichthyosis Syndrome
0
Cataract and Congenital Ichthyosis
0
Congenital Ichthyosis with Trichothiodystrophy +
3
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
1
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
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
3
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
3
Trichodysplasia-Xeroderma
0
X-linked ichthyosis +
3
autosomal recessive congenital ichthyosis +
31
bullous congenital ichthyosiform erythroderma
1
epidermolytic hyperkeratosis +
7
ichthyosis vulgaris +
2
keratosis pilaris atrophicans +
2
xeroderma of eyelid
0