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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 1
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Accession:DOID:0060656 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)
Synonyms:exact_synonym: ARCI1;   AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1;   ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION;   ICR2;   Ichthyosis Congenita II;   Ichthyosis, Lamellar, 1;   Ichthyosis, TGM1-related;   LI1;   Lamellar Exfoliation of Newborn;   SHCB;   bathing suit ichthyosis;   collodion baby syndrome;   collodion baby syndromes;   collodion fetus;   desquamation of newborn;   ichthyosis congenita;   ichthyosis congenita I;   lamellar ichthyosis type 1;   newborn desquamation;   newborn desquamations;   newborn lamellar exfoliation;   newborn lamellar exfoliations;   self-healing collodion baby
 primary_id: MESH:D017490
 alt_id: OMIA:000546;   OMIM:242300
 xref: GARD:3170;   ORDO:100976;   ORDO:281122;   ORDO:313


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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, sub-family A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16675967 PMID:12915478 RGD:1598548 NCBI chr 1:71,282,249...71,454,069
Ensembl chr 1:71,281,435...71,454,069 		JBrowse link
G Abhd5 abhydrolase domain containing 5 susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 9:122,180,681...122,210,589
Ensembl chr 9:122,180,673...122,210,589 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21739938 PMID:11773004 RGD:1599073 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 7:45,379,405...45,409,096
Ensembl chr 7:45,379,407...45,434,093 		JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO
IAGP		 OMIM:242300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 1		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... RGD:1599417 NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383 		JBrowse link
G Tinf2 Terf1 (TRF1)-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 More... NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		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 protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      autosomal recessive congenital ichthyosis 51
        autosomal recessive congenital ichthyosis 1 8
          Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              Skin Abnormalities 1301
                ichthyosis 90
                  autosomal recessive congenital ichthyosis 51
                    autosomal recessive congenital ichthyosis 1 8
                      Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
paths to the root