cranioectodermal dysplasia
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
MONDO:0011679
craniosynostosis syndrome, autosomal recessive
is_a
MONDO:0015338
syndromic craniosynostosis
is_a
MONDO:0015461
short rib-polydactyly syndrome
is_a
MONDO:0015962
inherited renal tubular disease
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
CED
exact
Sensenbrenner syndrome
exact
cranioectodermal dysplasia
exact
SPAC3C7.06c SPBC8D2.19