WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:4
• Child Term . Identifier: DOID:0090116
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0090116
• Name: spondylocarpotarsal synostosis syndrome
• Description: A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.

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.