Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015216
obsolete syndromic diaphragmatic or abdominal wall malformation (obsolete MONDO:0015216)
excluded_subClassOf
MONDO:0015496
macroglossia
excluded_subClassOf
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0015880
obsolete syndromic diaphragmatic or thoracic malformation (obsolete MONDO:0015880)
excluded_subClassOf
MONDO:0019721
obsolete syndromic renal or urinary tract malformation (obsolete MONDO:0019721)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0019716
overgrowth syndrome
is_a
DGSX
exact
Golabi-Rosen syndrome
exact
SDYS
exact
SGB syndrome
exact
SGBS
exact
Sara Angers syndrome
exact
Simpson-Golabi-Behmel syndrome
exact
X-linked dysplasia gigantism syndrome
exact