ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive congenital ichthyosis
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Accession:DOID:0060655 term browser browse the term
Definition:An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Synonyms:exact_synonym: ARCI;   alligator skin;   congenital ichthyosiform erythroderma;   congenital ichthyosiform erythroderma, dry type;   congenital ichthyosiform erythroderma, wet type;   congenital ichthyosiform erythrodermas;   congenital non bullous ichthyosiform erythroderma;   congenital nonbullous ichthyosiform erythroderma;   ichthyosiform erythroderma;   lamellar ichthyose;   lamellar ichthyoses;   lamellar ichthyosis;   nonbullous congenital lamellar ichthyosis;   nonbullous erythroderma ichthyosiforme
 related_synonym: Lamellar desquamation of the newborn
 primary_id: MESH:D016113
 alt_id: DOID:1699;   RDO:0002179;   RDO:9003610
 xref: OMIM:PS242300;   ORDO:281097
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:8554872
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:1599417
RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:8554872
RGD:11554173
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link 7 13,938,376 13,944,286 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 7 71,152,366 71,169,510 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:7240710
RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:13592920
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 1 127,706,618 127,781,041 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:13592920
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508433
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link 18 35,118,300 35,190,458 RGD:7240710
RGD:8554872
RGD:11554173
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:11554173
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:7240710
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla2 patatin-like phospholipase domain containing 2 JBrowse link 1 214,434,638 214,439,720 RGD:8554872
RGD:7240710
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        ichthyosis 54
          autosomal recessive congenital ichthyosis 27
            Autosomal Recessive Congenital Ichthyosis 12 1
            Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
            CHILD Syndrome 1
            Ichthyosis Congenita with Biliary Atresia 0
            Ketoadipicaciduria 0
            Netherton syndrome 4
            Reticular Erythrokeratoderma 2
            Self-Healing Collodion Baby 0
            autosomal recessive congenital ichthyosis 1 + 6
            autosomal recessive congenital ichthyosis 10 1
            autosomal recessive congenital ichthyosis 11 1
            autosomal recessive congenital ichthyosis 13 1
            autosomal recessive congenital ichthyosis 14 1
            autosomal recessive congenital ichthyosis 2 3
            autosomal recessive congenital ichthyosis 3 2
            autosomal recessive congenital ichthyosis 4A 1
            autosomal recessive congenital ichthyosis 4B 3
            autosomal recessive congenital ichthyosis 5 1
            autosomal recessive congenital ichthyosis 6 1
            autosomal recessive congenital ichthyosis 7 0
            autosomal recessive congenital ichthyosis 8 1
            autosomal recessive congenital ichthyosis 9 1
            neutral lipid storage disease + 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Skin Abnormalities 344
              ichthyosis 54
                autosomal recessive congenital ichthyosis 27
                  Autosomal Recessive Congenital Ichthyosis 12 1
                  Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 0
                  CHILD Syndrome 1
                  Ichthyosis Congenita with Biliary Atresia 0
                  Ketoadipicaciduria 0
                  Netherton syndrome 4
                  Reticular Erythrokeratoderma 2
                  Self-Healing Collodion Baby 0
                  autosomal recessive congenital ichthyosis 1 + 6
                  autosomal recessive congenital ichthyosis 10 1
                  autosomal recessive congenital ichthyosis 11 1
                  autosomal recessive congenital ichthyosis 13 1
                  autosomal recessive congenital ichthyosis 14 1
                  autosomal recessive congenital ichthyosis 2 3
                  autosomal recessive congenital ichthyosis 3 2
                  autosomal recessive congenital ichthyosis 4A 1
                  autosomal recessive congenital ichthyosis 4B 3
                  autosomal recessive congenital ichthyosis 5 1
                  autosomal recessive congenital ichthyosis 6 1
                  autosomal recessive congenital ichthyosis 7 0
                  autosomal recessive congenital ichthyosis 8 1
                  autosomal recessive congenital ichthyosis 9 1
                  neutral lipid storage disease + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.