autosomal recessive congenital ichthyosis 10 - Ontology Report

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 10	go back to main search page
Accession:	DOID:0060719	browse the term
Definition:	An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)
Synonyms:	exact_synonym:	ARCI10; Ichthyosis, PNPLA1-related; PNPLA1-RELATED CONDITION
	narrow_synonym:	Ichthyosis, Golden Retriever
	primary_id:	OMIM:615024
	alt_id:	OMIA:001588

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Genes (2)

autosomal recessive congenital ichthyosis 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

KCNQ2

potassium voltage-gated channel subfamily Q member 2

ISO

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10

ClinVar

PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 More...

Ensembl chr20:61,325,365...61,395,266

PNPLA1

patatin like phospholipase domain containing 1

ISO

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition

OMIM
ClinVar

PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More...

NCBI chr 6:35,828,778...35,872,129
Ensembl chr 6:37,002,466...37,067,190

Term paths to the root

Path 1
Term	Annotations
disease	17996
physical disorder	4917
autosomal recessive congenital ichthyosis	50
autosomal recessive congenital ichthyosis 10	2
Path 2
Term	Annotations
disease	17996
disease of anatomical entity	15260
nervous system disease	13293
Neurologic Manifestations	9644
sensory system disease	6624
skin disease	3772
Skin Abnormalities	1284
ichthyosis	89
autosomal recessive congenital ichthyosis	50
autosomal recessive congenital ichthyosis 10	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS