Vrolik syndrome
E616018
Vrolik syndrome, also known as osteogenesis imperfecta type II, is a severe genetic disorder characterized by extremely fragile bones that fracture easily, often leading to perinatal lethality.
All labels observed (1)
| Label | Occurrences |
|---|---|
| Vrolik syndrome canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T6731069 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: Vrolik syndrome Context triple: [Jeff "Joker" Moreau, medicalCondition, Vrolik syndrome]
-
A.
Myelosperma
Myelosperma is a genus of fungi classified within the order Xenospadicoidales.
-
B.
Hipple
Hipple is the birth surname of American film and television actor Hugh Marlowe.
-
C.
Elephantine triad
The Elephantine triad is a group of three ancient Egyptian deities—traditionally Khnum, Satet, and Anuket—worshipped together at Elephantine Island as protectors of the Nile and its inundation.
-
D.
Trioditis
Trioditis is an epithet of the Greek goddess Hecate that emphasizes her association with crossroads and liminal spaces.
-
E.
Fitz Hugh Sound
Fitz Hugh Sound is a coastal waterway on the central coast of British Columbia, Canada, known for its rich marine ecosystems and significance within Indigenous Heiltsuk territory.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: Vrolik syndrome Target entity description: Vrolik syndrome, also known as osteogenesis imperfecta type II, is a severe genetic disorder characterized by extremely fragile bones that fracture easily, often leading to perinatal lethality.
-
A.
Myelosperma
Myelosperma is a genus of fungi classified within the order Xenospadicoidales.
-
B.
Hipple
Hipple is the birth surname of American film and television actor Hugh Marlowe.
-
C.
Elephantine triad
The Elephantine triad is a group of three ancient Egyptian deities—traditionally Khnum, Satet, and Anuket—worshipped together at Elephantine Island as protectors of the Nile and its inundation.
-
D.
Trioditis
Trioditis is an epithet of the Greek goddess Hecate that emphasizes her association with crossroads and liminal spaces.
-
E.
Fitz Hugh Sound
Fitz Hugh Sound is a coastal waterway on the central coast of British Columbia, Canada, known for its rich marine ecosystems and significance within Indigenous Heiltsuk territory.
- F. None of above. chosen
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf |
genetic disorder
ⓘ
osteogenesis imperfecta type II ⓘ rare disease ⓘ skeletal disorder ⓘ |
| affectsSystem | skeletal system ⓘ |
| diagnosedBy |
molecular genetic testing
ⓘ
prenatal ultrasound ⓘ radiographic examination ⓘ |
| hasAlternativeName |
OI type II
ⓘ
congenital osteogenesis imperfecta type II ⓘ osteogenesis imperfecta type II NERFINISHED ⓘ |
| hasCause |
pathogenic variants in COL1A1
ⓘ
pathogenic variants in COL1A2 ⓘ |
| hasCharacteristic |
beaded ribs
ⓘ
blue sclerae ⓘ extremely fragile bones ⓘ intrauterine growth restriction ⓘ multiple in utero fractures ⓘ narrow thorax ⓘ perinatal lethality ⓘ severe bone deformities ⓘ shortened limbs ⓘ underossified skull ⓘ |
| hasEpidemiology | very rare ⓘ |
| hasICDClassification | ICD-10 Q78.0 ⓘ |
| hasInheritancePattern |
autosomal dominant
ⓘ
often due to de novo mutation ⓘ |
| hasManagement |
palliative care
ⓘ
supportive care ⓘ |
| hasModeOfDetection |
first trimester ultrasound in severe cases
ⓘ
second trimester ultrasound ⓘ |
| hasMolecularBasis | defective type I collagen ⓘ |
| hasOMIMID | 166210 ⓘ |
| hasOnset | prenatal onset ⓘ |
| hasOrphanetID | 666 ⓘ |
| hasPathophysiology | reduced quantity of structurally normal type I collagen or production of structurally abnormal type I collagen ⓘ |
| hasRadiologicFeature |
crumpled long bones
ⓘ
generalized osteopenia ⓘ multiple long bone fractures ⓘ platyspondyly ⓘ short, broad femurs ⓘ |
| hasTypicalOutcome |
death in the perinatal period
ⓘ
death in utero ⓘ |
| isSubclassOf |
congenital bone fragility disorder
ⓘ
lethal skeletal dysplasia ⓘ osteogenesis imperfecta NERFINISHED ⓘ |
| namedAfter | Willem Vrolik NERFINISHED ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: Vrolik syndrome Description of subject: Vrolik syndrome, also known as osteogenesis imperfecta type II, is a severe genetic disorder characterized by extremely fragile bones that fracture easily, often leading to perinatal lethality.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.