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General Information
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| Term |
Hengel-Maroofian-Schols syndrome |
ID (Ontology) |
DOID:0070408 (Human Disease) |
| Definition |
A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. |
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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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Hengel-Maroofian-Schols syndrome | 2 | 1 | 1 | for disease ribbon | Hengel-Maroofian-Schols syndrome | -- | 1 | -- | model of | Hengel-Maroofian-Schols syndrome | 2 | 1 | -- |
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Relationships