7 Parents
Identifier | Name | Description |
---|---|---|
DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
DOID:4 | disease | 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. |
DOID:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
DOID:574 | peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
DOID:870 | neuropathy | A nervous system disease that is located_in nerves or nerve cells. |
DOID:0050548 | hereditary sensory neuropathy | A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. |
DOID:11589 | Riley-Day syndrome | A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. |
6 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:0050548 | DOID:11589 |
is_a | DOID:574 | DOID:11589 |
is_a | DOID:863 | DOID:11589 |
is_a | DOID:7 | DOID:11589 |
is_a | DOID:4 | DOID:11589 |
is_a | DOID:870 | DOID:11589 |