15 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:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| DOID:0080001 | bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| 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:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| DOID:0080006 | bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| DOID:2256 | osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| DOID:1222 | cartilage disease | A connective tissue disease that is located_in cartilage. |
| DOID:0080722 | Kenny-Caffey syndrome type 1 | A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
| DOID:0080724 | Kenny-Caffey syndrome | A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0080722 |
| is_a | DOID:0080724 | DOID:0080722 |
| is_a | DOID:0050739 | DOID:0080722 |
| is_a | DOID:2256 | DOID:0080722 |
| is_a | DOID:1222 | DOID:0080722 |
| is_a | DOID:0080001 | DOID:0080722 |
| is_a | DOID:0050177 | DOID:0080722 |
| is_a | DOID:0080006 | DOID:0080722 |
| is_a | DOID:65 | DOID:0080722 |
| is_a | DOID:4 | DOID:0080722 |
| is_a | DOID:225 | DOID:0080722 |
| is_a | DOID:17 | DOID:0080722 |
| is_a | DOID:7 | DOID:0080722 |
| is_a | DOID:630 | DOID:0080722 |
