| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00685
|
Bifid nose with or without anorectal and renal anomalies
BNAR syndrome
|
... ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.
|
Congenital malformation
|
|
FREM1 [HSA:158326] [KO:K23380]
|
|
H00686
|
Manitoba oculotrichoanal syndrome
|
Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies ...
|
Congenital malformation
|
|
FREM1 [HSA:158326] [KO:K23380]
|
|
H01207
|
Trigonocephaly
|
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.
|
Congenital malformation
|
|
(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362]
(TRIGNO2) FREM1 [HSA:158326] [KO:K23380]
|