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Metadata
ID DOID:0070826
PURL http://purl.obolibrary.org/obo/DOID_0070826 Copy
Name Tayoun-Maawali syndrome
Definition A syndrome characterized by growth restriction, neurodevelopmental delay, and craniofacial abnormalities that has_material_basis_in homozygous mutation in the FBXO22 gene on chromosome 15q24.
https://pubmed.ncbi.nlm.nih.gov/40215970/
Xrefs

MIM:621184

UMLS_CUI:C6012717

SKOS

exactMatch MIM:621184

exactMatch UMLS_CUI:C6012717

Subsets

DO_rare_slim

Synonyms

TYMAS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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