| Metadata | |
|---|---|
| ID | DOID:0060655 |
| Name | autosomal recessive congenital ichthyosis |
| Definition | An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. https://www.ncbi.nlm.nih.gov/books/NBK1420/, https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, https://www.ncbi.nlm.nih.gov/pubmed/20643494 |
| Xrefs |
SNOMEDCT_US_2023_03_01:12215009 |
| Alternateids |
DOID:1699 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ARCI [EXACT] lamellar ichthyosis [EXACT] non bullous congenital ichthyosiform erythroderma [EXACT] |
| Parent Relationships |
is_a ichthyosis is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |