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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 termsOntology classOntology class assigned by ANNManual analysis resultSuggested additional classificationDOIDExplanation
Timothy syndromegenetic diseasecardiovascular system diseaseCannot specify (affect multiple parts)---
Familial periodic paralysisdisease of metabolismcardiovascular system diseasemusculoskeletal system disease---
Hyperprolactinemiadisease of metabolismendocrine system diseaseendocrine system diseasepituitary gland diseaseDOID:53The pituitary gland is the endocrine gland responsible for secreting prolactin.
Angiokeratoma circumscriptumdisease of cellular proliferationgastrointestinal system diseasecardiovascular system disease---
Zollinger-Ellison syndromesyndromegastrointestinal system diseasegastrointestinal system diseasepeptic ulcer diseaseDOID:750It 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 diseasegenetic diseasegastrointestinal system diseasegastrointestinal system diseaseliver diseaseDOID:409It is a genetic disorder that affects primarily the liver.
Bilirubin metabolic disorderdisease of metabolismhematopoietic system diseasehematopoietic system diseasekernicterus due to isoimmunizationDOID:12043Bilirubin disorder could be a result of blood pathology, same as for the mentioned classification DOID:12043.
Alpha thalassemiagenetic diseasehematopoietic system diseasehematopoietic system diseasehemoglobinopathyDOID:2860The disease is mainly a hemoglobin disorder with hematological phenotypes.
Kabuki syndromesyndromeimmune system diseaseNot anatomical - multisystems---
Amyloidosisdisease of metabolismimmune system diseaseNot anatomical - multisystems---
Fatty liver diseasedisease of metabolismmusculoskeletal system diseasegastrointestinal system disease---
Renal-hepatic-pancreatic dysplasiaphysical disordermusculoskeletal system diseaseCannot specify (affect multiple parts)---
Radioulnar synostosisphysical disordermusculoskeletal system diseasemusculoskeletal system diseasebone development disease/SynostosisDOID:0080006/ DOID:11971There is already an entity in the DO for synostosis under bone development disease.
Hypophosphatasiagenetic diseasemusculoskeletal system diseasemusculoskeletal system diseasebone remodeling diseaseDOID:0080005We 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.
Narcolepsydisease of mental healthnervous system diseasenervous system disease***
Aceruloplasminemiadisease of metabolismnervous system diseasenervous system diseaseneurodegeneration with brain iron accumulationDOID:0110734The disease main pathophysiology is either the absence or dysfunction of ceruloplasmin with subsequent iron accumulation in various organ, mainly the brain.
Glomangiomatosisdisease of cellular proliferationnervous system diseasecardiovascular system disease---
Deafness-dystonia-optic neuronopathy syndromedisease of metabolismnervous system diseasenervous system diseasenervous system disease; since it covers many subclasses to which we can map many aspects of this diseaseDOID:863The disease’s phenotypes reflect neurological affection of multiple parts in the nervous system.
Trophoblastic neoplasmdisease of cellular proliferationreproductive system diseasereproductive system diseaseFemale reproductive organ cancerDOID:120The 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.
Cryptorchidismphysical disorderreproductive system diseasereproductive system diseasetesticular diseaseDOID:2519The term refers to undescended testicle.
  1. *Nacrolepsy: is classified as a sleep disorder which is correct, however, the class itself is a subclass to mental disorders. Since there are some neurological disorders that have shown a strong association with sleep disorder such as: neurodenegrative disorders such as tauopathy which involve Alzheimer’s diseases (DOID:10652) [51], synucleinopathy which involve Parkinsonism (DOID:14330) [52], and Genetic neurodegenerative disorders such as Machado-Joseph disease (DOID:1440) [53] or Huntington’s disease (DOID:12858) [54]. We suggest a new classification in which sleep disorders may also be a subclass of nervous system diseases (neurodegenerative disorder) [55] The terms in bold represent the correctly validated terms (by a clinician) that classified as anatomical diseases terms using our method (in Anatomical disease classification experiment).