In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Autosomal Recessive Congenital Ichthyosis causative germline
mechanism: Biallelic ARCI Gene Defects; Epidermal Lipid Processing and Transport Defect
subtype: ARCI5
scoped to subtype: ARCI5
Inherited Ichthyosis untyped
Causative biallelic pathogenic variants in autosomal recessive congenital ichthyosis
mechanism: Epidermal Lipid Metabolism Defect
subtype: Autosomal Recessive Congenital Ichthyosis
scoped to subtype: Autosomal Recessive Congenital Ichthyosis
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.