WormBase Tree Display for DO_term: DOID:0111840
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DOID:0111840 | Name | Van Esch-O'Driscoll syndrome | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. | ||||
Synonym | Exact | MRXSVEOD | |||
VEODS | |||||
X-linked intellectual disability, Van Esch type | |||||
X-linked syndromic mental retardation Van Esch-O'Driscoll type | |||||
Parent | Is_a | DOID:0060309 | |||
DOID:0080012 | |||||
DB_info | Database | OMIM | disease | 301030 | |
Attribute_of | Gene_by_orthology | WBGene00012936 |