12 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:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| 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:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |
| DOID:0060264 | pontocerebellar hypoplasia | A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. |
| DOID:0112322 | pontocerebellar hypoplasia type 1 | A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. |
| DOID:0112331 | pontocerebellar hypoplasia type 1F | A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112322 | DOID:0112331 |
| is_a | DOID:0050737 | DOID:0112331 |
| is_a | DOID:331 | DOID:0112331 |
| is_a | DOID:0050177 | DOID:0112331 |
| is_a | DOID:630 | DOID:0112331 |
| is_a | DOID:863 | DOID:0112331 |
| is_a | DOID:0050739 | DOID:0112331 |
| is_a | DOID:1289 | DOID:0112331 |
| is_a | DOID:0060264 | DOID:0112331 |
| is_a | DOID:7 | DOID:0112331 |
| is_a | DOID:4 | DOID:0112331 |
