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autosomal recessive congenital ichthyosis 4B - 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 4B
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Accession:DOID:0060713 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: ARCI4B;   HI;   ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN);   harlequin baby syndrome;   harlequin fetus;   harlequin ichthyoses;   harlequin ichthyosis;   harlequin type ichthyosis;   harlequin type ichthyosis congenita;   harlequin type ichthyosis fetalis;   ichthyosis congenita, harlequin fetus type
 broad_synonym: ABCA12-RELATED CONDITION
 primary_id: MESH:C538424
 alt_id: MIM:242500
 xref: ICD10CM:Q80.4;   NCI:C98934;   ORDO:457

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autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:242500
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) 		OMIM
CTD
MouseDO
ClinVar		 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 More... NCBI chr 9:80,272,121...80,445,340
Ensembl chr 9:72,823,350...72,996,049 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    physical disorder 5203
      autosomal recessive congenital ichthyosis 54
        autosomal recessive congenital ichthyosis 4B 4
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Skin Abnormalities 1325
                ichthyosis 95
                  autosomal recessive congenital ichthyosis 54
                    autosomal recessive congenital ichthyosis 4B 4
paths to the root