WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:4
• Child Term . Identifier: DOID:0080568
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0080568
• Name: congenital disorder of glycosylation Iq
• Description: A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.

1 Parent Term

• Identifier: DOID:4
• Name: disease
• Description: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.