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Disease association ontology term - MONDO:7770011 - disease by molecular mechanism

Term summary

ID
MONDO:7770011
Name
disease by molecular mechanism
Ontology or CV name
Disease association
Definition
A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption.

Parents

Annotation

Disease association

MONDO:0971004 - amyloidosis, hereditary systemic 1

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MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

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MONDO:0015280 - cardiofaciocutaneous syndrome

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MONDO:0007265 - cardiofaciocutaneous syndrome 1

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MONDO:0014112 - cardiofaciocutaneous syndrome 2

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MONDO:0014113 - cardiofaciocutaneous syndrome 3

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MONDO:0014114 - cardiofaciocutaneous syndrome 4

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MONDO:0009026 - Costello syndrome

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MONDO:0100087 - familial Alzheimer disease

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MONDO:0007100 - familial amyloid neuropathy

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MONDO:0010080 - familial infantile bilateral striatal necrosis

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MONDO:0010590 - FG syndrome 1

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MONDO:0009008 - heart defect - tongue hamartoma - polysyndactyly syndrome

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MONDO:0032485 - intellectual developmental disorder 61

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MONDO:0060650 - Leber congenital amaurosis with early-onset deafness

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MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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MONDO:0018997 - Noonan syndrome

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MONDO:0033669 - Noonan syndrome 13

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MONDO:0012371 - Noonan syndrome 3

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MONDO:0013186 - Noonan syndrome 6

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MONDO:0054588 - Noonan syndrome-like disorder with loose anagen hair 2

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MONDO:0014909 - primary ciliary dyskinesia 34

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MONDO:0021060 - RASopathy

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MONDO:0054565 - short-rib thoracic dysplasia 17 with or without polydactyly

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MONDO:0003122 - striatonigral degeneration

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MONDO:0014889 - striatonigral degeneration, childhood-onset

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MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

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MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

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