Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
|
| gptkbp:alsoKnownAs |
Pound syndrome
|
| gptkbp:category |
gptkb:genetic_disorder
gptkb:rare_disease |
| gptkbp:characterizedBy |
gptkb:intellectual_disability
short stature retinitis pigmentosa progressive sensorineural hearing loss |
| gptkbp:firstDescribed |
1979
Pound et al. |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
262350
|
| gptkbp:bfsParent |
gptkb:Pound_Syndrome
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pound (1979) syndrome
|