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General Information
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| Term |
Siddiqi syndrome |
ID (Ontology) |
DOID:0081273 (Human Disease) |
| Definition |
A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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Siddiqi syndrome | 2 | 1 | 1 | for disease ribbon | Siddiqi syndrome | -- | 1 | -- | model of | Siddiqi syndrome | 2 | 1 | -- |
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Relationships