| Metadata | |
|---|---|
| ID | DOID:0070787 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070787 Copy |
| Name | Alsahan-Harris syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/32573025/, https://pubmed.ncbi.nlm.nih.gov/36826837/, https://pubmed.ncbi.nlm.nih.gov/31130284/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621307 exactMatch UMLS_CUI:C6065900 |
| Subsets |
DO_rare_slim |
| Synonyms |
ALHAS [EXACT] |
| Parent Relationships |
is_a ciliopathy |
| Subclass Logical Relationships |
existence starts during some Fetal onset has material basis in some autosomal recessive inheritance |