Meckel syndrome
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0015214
obsolete syndromic visceral malformation (obsolete MONDO:0015214)
excluded_subClassOf
MONDO:0015220
obsolete syndrome with a central nervous system malformation as major feature (obsolete MONDO:0015220)
excluded_subClassOf
MONDO:0015335
obsolete Mendelian syndromes with cleft lip/palate (obsolete MONDO:0015335)
excluded_subClassOf
MONDO:0018731
obsolete lethal multiple congenital anomalies/dysmorphic syndrome (obsolete MONDO:0018731)
excluded_subClassOf
MONDO:0019721
obsolete syndromic renal or urinary tract malformation (obsolete MONDO:0019721)
excluded_subClassOf
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0020229
obsolete cerebral disease with cataract (obsolete MONDO:0020229)
excluded_subClassOf
MONDO:0020237
obsolete lens shape anomaly (obsolete MONDO:0020237)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005308
ciliopathy
is_a
MONDO:0043009
hereditary lethal multiple congenital anomalies/dysmorphic syndrome
is_a
Meckel-Gruber syndrome
exact
SPAC144.14