WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:4
• Child Term . Identifier: DOID:0111639
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0111639
• Name: autosomal recessive nonsyndromic deafness 109
• Description: An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.

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.