Table 4 Sample of manually analyzed disease terms classified as affecting particular anatomical systems (Continued)
From: Combining lexical and context features for automatic ontology extension
Disease terms | Ontology class | Ontology class assigned by ANN | Manual analysis result | Suggested additional classification | DOID | Explanation |
|---|---|---|---|---|---|---|
Timothy syndrome | genetic disease | cardiovascular system disease | Cannot specify (affect multiple parts) | - | - | - |
Familial periodic paralysis | disease of metabolism | cardiovascular system disease | musculoskeletal system disease | - | - | - |
Hyperprolactinemia | disease of metabolism | endocrine system disease | endocrine system disease | pituitary gland disease | DOID:53 | The pituitary gland is the endocrine gland responsible for secreting prolactin. |
Angiokeratoma circumscriptum | disease of cellular proliferation | gastrointestinal system disease | cardiovascular system disease | - | - | - |
Zollinger-Ellison syndrome | syndrome | gastrointestinal system disease | gastrointestinal system disease | peptic ulcer disease | DOID:750 | It is a disease that affects either pancreas, duodenum, or both of them. Both organs are pats of the GIT system. The disease pathology is mainly excessive gastrin secretion with subsequent peptic ulcers. |
Polycystic liver disease | genetic disease | gastrointestinal system disease | gastrointestinal system disease | liver disease | DOID:409 | It is a genetic disorder that affects primarily the liver. |
Bilirubin metabolic disorder | disease of metabolism | hematopoietic system disease | hematopoietic system disease | kernicterus due to isoimmunization | DOID:12043 | Bilirubin disorder could be a result of blood pathology, same as for the mentioned classification DOID:12043. |
Alpha thalassemia | genetic disease | hematopoietic system disease | hematopoietic system disease | hemoglobinopathy | DOID:2860 | The disease is mainly a hemoglobin disorder with hematological phenotypes. |
Kabuki syndrome | syndrome | immune system disease | Not anatomical - multisystems | - | - | - |
Amyloidosis | disease of metabolism | immune system disease | Not anatomical - multisystems | - | - | - |
Fatty liver disease | disease of metabolism | musculoskeletal system disease | gastrointestinal system disease | - | - | - |
Renal-hepatic-pancreatic dysplasia | physical disorder | musculoskeletal system disease | Cannot specify (affect multiple parts) | - | - | - |
Radioulnar synostosis | physical disorder | musculoskeletal system disease | musculoskeletal system disease | bone development disease/Synostosis | DOID:0080006/ DOID:11971 | There is already an entity in the DO for synostosis under bone development disease. |
Hypophosphatasia | genetic disease | musculoskeletal system disease | musculoskeletal system disease | bone remodeling disease | DOID:0080005 | We could suggest an additional classification based on the main affected system. Our suggestive classification is musculoskeletal since |
the disease is mainly affecting mineralization of the bone with phenotypes similar to those of Rickets DOID:10609. | ||||||
Narcolepsy | disease of mental health | nervous system disease | nervous system disease | * | * | * |
Aceruloplasminemia | disease of metabolism | nervous system disease | nervous system disease | neurodegeneration with brain iron accumulation | DOID:0110734 | The disease main pathophysiology is either the absence or dysfunction of ceruloplasmin with subsequent iron accumulation in various organ, mainly the brain. |
Glomangiomatosis | disease of cellular proliferation | nervous system disease | cardiovascular system disease | - | - | - |
Deafness-dystonia-optic neuronopathy syndrome | disease of metabolism | nervous system disease | nervous system disease | nervous system disease; since it covers many subclasses to which we can map many aspects of this disease | DOID:863 | The disease’s phenotypes reflect neurological affection of multiple parts in the nervous system. |
Trophoblastic neoplasm | disease of cellular proliferation | reproductive system disease | reproductive system disease | Female reproductive organ cancer | DOID:120 | The term refers to the group of malignant neoplasms that consist of abnormal proliferation of trophoblastic tissues similar to choriocarcinoma DOID:3596 and gestational trophoblastic neoplasia DOID:3590. |
Cryptorchidism | physical disorder | reproductive system disease | reproductive system disease | testicular disease | DOID:2519 | The term refers to undescended testicle. |