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: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: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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:2490 | congenital nervous system abnormality | |
| DOID:0070296 | primary autosomal recessive microcephaly | A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. |
| DOID:10907 | microcephaly | A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. |
| DOID:0070297 | primary microcephaly | A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. |
| DOID:0070287 | primary autosomal recessive microcephaly 11 | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070296 | DOID:0070287 |
| is_a | DOID:0070297 | DOID:0070287 |
| is_a | DOID:10907 | DOID:0070287 |
| is_a | DOID:4 | DOID:0070287 |
| is_a | DOID:2490 | DOID:0070287 |
| is_a | DOID:863 | DOID:0070287 |
| is_a | DOID:7 | DOID:0070287 |
| is_a | DOID:630 | DOID:0070287 |
| is_a | DOID:0050739 | DOID:0070287 |
| is_a | DOID:0080015 | DOID:0070287 |
| is_a | DOID:0050737 | DOID:0070287 |
| is_a | DOID:0050177 | DOID:0070287 |
