Search Ontology:
Human Disease
Alsahan-Harris syndrome
- Term ID
- DOID:0070787
- Synonyms
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- ALHAS
- Definition
- A ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. (3)
- References
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- MIM:621307
- UMLS_CUI:C6065900
- Ontology
- Human Disease ( DOID:0070787 )
Other Pages
Genes Involved
Zebrafish Models