Preferred Name |
Ohdo syndrome, X-linked |
|
Synonyms |
OHDOX |
|
Definitions |
(OHDOX) - A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. |
|
ID |
http://identifiers.org/omim/300895 |
|
altLabel |
OHDOX |
|
definition |
(OHDOX) - A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. |
|
id |
OMIM:300895 |
|
notation |
OMIM:300895 |
|
prefLabel |
Ohdo syndrome, X-linked |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://identifiers.org/omim/300895 | GEXO | SAME_URI | |
http://identifiers.org/omim/300895 | RETO | SAME_URI | |
http://purl.bioontology.org/ontology/OMIM/300895 | OMIM | LOOM | |
http://identifiers.org/omim/300895 | GEXO | LOOM | |
http://identifiers.org/omim/300895 | RETO | LOOM |