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Metadata
ID DOID:0111675
Name neurooculocardiogenitourinary syndrome
Definition A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in WDR37 on chromosome 10p15.3.
https://www.ncbi.nlm.nih.gov/pubmed/31327510
Xrefs

OMIM:618652

Synonyms

NOCGUS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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