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autosomal recessive congenital ichthyosis 6 - Ontology Report - Rat Genome Database

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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 6
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Accession:DOID:0060715 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: ARCI6;   NIPAL4-RELATED CONDITION;   autosomal recessive congenital ichthyosis, NIPAL4-related;   ichthyosis, NIPAL4-related
 primary_id: MIM:612281
 alt_id: OMIA:001980
 xref: ICD10CM:Q80.2

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autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129995124 ATAC-STARR-seq lymphoblastoid silent region 16559 IAGP ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 ClinVar PMID:24397709 PMID:25741868 PMID:28492532 NCBI chr 5:157,460,107...157,460,266 JBrowse link
G N Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chrNW_004624733:31,945,996...31,960,187
Ensembl chrNW_004624733:31,948,414...31,959,894 		JBrowse link
G G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr23:59,848,827...59,865,369
Ensembl chr23:59,849,970...59,863,601 		JBrowse link
G P NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,815,295...65,829,126 		JBrowse link
G S Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chrNW_004936515:5,687,364...5,699,153
Ensembl chrNW_004936515:5,687,523...5,695,845 		JBrowse link
G D NIPAL4 NIPA like domain containing 4 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition
Ichthyosis, NIPAL4-related		 OMIM
ClinVar
OMIA		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr 4:52,735,094...52,748,168
Ensembl chr 4:52,736,693...52,745,189 		JBrowse link
G B NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr 5:152,856,602...152,871,218
Ensembl chr 5:159,472,383...159,492,182 		JBrowse link
G C Nipal4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chrNW_004955408:11,635,724...11,648,359
Ensembl chrNW_004955408:11,635,724...11,650,942 		JBrowse link
G R Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640 		JBrowse link
G M Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition OMIM
ClinVar		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr11:46,038,982...46,057,186
Ensembl chr11:46,038,982...46,057,335 		JBrowse link
G H NIPAL4 NIPA like domain containing 4 IAGP ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: NIPAL4-related condition		 ClinVar
OMIM		 PMID:9536098 PMID:15317751 PMID:17557927 PMID:17576681 PMID:19434086 More... NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G H NIPAL4-DT NIPAL4 divergent transcript IAGP ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 ClinVar NCBI chr 5:157,362,615...157,460,100 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      autosomal recessive congenital ichthyosis 542
        autosomal recessive congenital ichthyosis 6 12
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              Skin Abnormalities 13359
                ichthyosis 977
                  autosomal recessive congenital ichthyosis 542
                    autosomal recessive congenital ichthyosis 6 12
paths to the root