13 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: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:0080005 | bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| DOID:4254 | osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| DOID:0080032 | craniodiaphyseal dysplasia | An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. |
| DOID:0112340 | craniotubular dysplasia Ikegawa type | A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080032 | DOID:0112340 |
| is_a | DOID:0050737 | DOID:0112340 |
| is_a | DOID:630 | DOID:0112340 |
| is_a | DOID:65 | DOID:0112340 |
| is_a | DOID:0080005 | DOID:0112340 |
| is_a | DOID:0050177 | DOID:0112340 |
| is_a | DOID:0080001 | DOID:0112340 |
| is_a | DOID:7 | DOID:0112340 |
| is_a | DOID:0050739 | DOID:0112340 |
| is_a | DOID:4254 | DOID:0112340 |
| is_a | DOID:4 | DOID:0112340 |
| is_a | DOID:17 | DOID:0112340 |
