8 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: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:4501 | orofaciodigital syndrome | A syndrome that is characterized by malformations of the face, oral cavity, and digits. |
| DOID:0060958 | orofaciodigital syndrome XIV | An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:4501 | DOID:0060958 |
| is_a | DOID:0050737 | DOID:0060958 |
| is_a | DOID:0050739 | DOID:0060958 |
| is_a | DOID:630 | DOID:0060958 |
| is_a | DOID:225 | DOID:0060958 |
| is_a | DOID:4 | DOID:0060958 |
| is_a | DOID:0050177 | DOID:0060958 |
