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General Information
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| Term |
microcephaly, short stature, and limb abnormalities |
ID (Ontology) |
DOID:0081431 (Human Disease) |
| Definition |
An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. |
| Also Known As |
"DONSON-related microcephaly-short stature-limb abnormalities spectrum" |
| Comment |
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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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| 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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| Genes | Human Disease Models |
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microcephaly, short stature, and limb abnormalities | 1 | 1 | for disease ribbon | microcephaly, short stature, and limb abnormalities | 1 | -- | model of | microcephaly, short stature, and limb abnormalities | 1 | -- |
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Relationships