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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal recessive congenital ichthyosis
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Accession:DOID:0060655 term browser browse the term
Definition:An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Synonyms:exact_synonym: ARCI;   alligator skin;   congenital ichthyosiform erythroderma;   congenital ichthyosiform erythroderma, dry type;   congenital ichthyosiform erythroderma, wet type;   congenital ichthyosiform erythrodermas;   congenital non bullous ichthyosiform erythroderma;   congenital nonbullous ichthyosiform erythroderma;   ichthyosiform erythroderma;   lamellar ichthyose;   lamellar ichthyoses;   lamellar ichthyosis;   nonbullous congenital lamellar ichthyosis;   nonbullous erythroderma ichthyosiforme
 broad_synonym: CONGENITAL ICHTHYOSIS OF SKIN
 related_synonym: Lamellar desquamation of the newborn
 primary_id: MESH:D016113
 alt_id: DOID:1699;   RDO:0002179;   RDO:9003610
 xref: NCI:C84805;   OMIM:PS242300;   ORDO:281097
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar PMID:16116617, PMID:18347291, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 5:152,856,602...152,871,218
Ensembl chr 5:159,472,383...159,492,182
JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar PMID:3757302, PMID:24344921, PMID:28369476, PMID:28403545 NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379, PMID:11407995, PMID:11511296, PMID:16968736, PMID:19212342, PMID:19262603, PMID:19863506, PMID:19890349, PMID:20167857, PMID:21895619, PMID:22801880, PMID:23895935, PMID:24033266, PMID:24419105, PMID:25741868, PMID:26076875, PMID:26762237, PMID:27025581, PMID:28403434, PMID:28492532 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12915478, PMID:16675967 RGD:1598548 NCBI chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11773004, PMID:21739938 RGD:1599073 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar PMID:28575648 NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
JBrowse link
G TGM1 transglutaminase 1 ISO OMIM NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA1 patatin like phospholipase domain containing 1 ISO OMIM NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190
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 chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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 chr19:14,594,810...14,604,109
Ensembl chr19:15,565,543...15,574,402
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 chr12:31,983,412...31,994,584
Ensembl chr12:32,236,402...32,247,688
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 chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
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 chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
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 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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 chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
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 chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
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 chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
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 chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO OMIM NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490
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 chr 5:152,856,602...152,871,218
Ensembl chr 5:159,472,383...159,492,182
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 chr10:85,485,727...85,505,268
Ensembl chr10:88,990,571...89,007,327
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 chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO OMIM NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
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 chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007
JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO OMIM NCBI chr 5:143,387,981...143,578,839
Ensembl chr 5:149,506,367...149,590,930
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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 chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543, PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:16644682, PMID:17187067, PMID:18445597, PMID:19038890, PMID:20370797, PMID:21170305, PMID:21544567, PMID:22832386, PMID:22990388, PMID:23232698, PMID:23449549, PMID:24332944, PMID:24334715, PMID:24836204, PMID:25741868, PMID:25956450, PMID:27869069, PMID:28391974, PMID:28492532, PMID:28499397 NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
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 chr11:838,339...844,035
Ensembl chr11:881,934...886,896
JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO OMIM NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO ClinVar Annotator: match by term: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:25774499 NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
G LOC100993221 transmembrane protein 99 (putative) ISO ClinVar Annotator: match by term: Erythroderma, ichthyosiform, congenital reticular ClinVar PMID:20798280 NCBI chr17:16,447,929...16,465,165 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    sensory system disease 4826
      skin disease 2527
        ichthyosis 106
          autosomal recessive congenital ichthyosis 25
            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 2
            Reticular Erythrokeratoderma 3
            Self-Healing Collodion Baby 0
            autosomal recessive congenital ichthyosis 1 + 8
            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 1
            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 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          skin disease 2527
            Skin Abnormalities 635
              ichthyosis 106
                autosomal recessive congenital ichthyosis 25
                  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 2
                  Reticular Erythrokeratoderma 3
                  Self-Healing Collodion Baby 0
                  autosomal recessive congenital ichthyosis 1 + 8
                  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 1
                  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.