Loeys-Dietz syndrome 4 - Ontology Browser

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Loeys-Dietz syndrome 4 (DOID:0070233)
Annotations: Rat: (29) Mouse: (30) Human: (33) Chinchilla: (25) Bonobo: (28) Dog: (28) Squirrel: (25) Pig: (29) Naked Mole-rat: (26) Green Monkey: (28)

Parent Terms

Term With Siblings

Child Terms

Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity

Loeys-Dietz syndrome 1

Loeys-Dietz syndrome 2

Loeys-Dietz syndrome 3

Loeys-Dietz syndrome 4

A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)

Loeys-Dietz syndrome 5

Loeys-Dietz syndrome 6

Loeys-Dietz Syndrome, Type 1b

Synonyms
Exact Synonyms:	LDS4 ; aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations
Primary IDs:	MIM:614816
Definition Sources:	https://www.ncbi.nlm.nih.gov/pubmed/22772368 "DO" "DO"

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