| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00573
|
Townes-Brocks syndrome
|
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ...
|
Congenital malformation
|
|
(TBS1) SALL1 [HSA:6299] [KO:K19871]
(TBS2) DACT1 [HSA:51339] [KO:K22154]
|
|
H00929
|
Congenital vertical talus
|
... associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.
|
Congenital malformation
|
|
HOXD10 [HSA:3236] [KO:K09295]
|
|
H02165
|
Colorado tick fever
|
... tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor andersoni). CTFV was first isolated in 1944 in the Rocky Mountain ...
|
Viral infectious disease
|
|
|