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Metadata
ID DOID:0060248
Name Simpson-Golabi-Behmel syndrome type 1
Definition An X-linked recessive disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.
http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome
Xrefs

GARD:7649

MESH:C537340

NCI:C118787

OMIM:312870

ORDO:373

UMLS_CUI:C0796154

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

bulldog syndrome [EXACT]

DGSX Golabi-Rosen syndrome [EXACT]

Golabi-Rosen syndrome [EXACT]

Sara Angers syndrome [EXACT]

SGB syndrome [EXACT]

Simpson dysmorphia syndrome [EXACT]

X-linked dysplasia gigantism syndrome [EXACT]

Parent Relationships

is_a X-linked recessive disease

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