7 Parents
| Identifier | Name | Description |
|---|---|---|
| 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:9562 | primary ciliary dyskinesia | A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
| DOID:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0060340 | ciliopathy | A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. |
| DOID:0110609 | primary ciliary dyskinesia 23 | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:9562 | DOID:0110609 |
| is_a | DOID:0060340 | DOID:0110609 |
| is_a | DOID:0050177 | DOID:0110609 |
| is_a | DOID:225 | DOID:0110609 |
| is_a | DOID:630 | DOID:0110609 |
| is_a | DOID:4 | DOID:0110609 |
