Table 2 List of the 22 HPO terms associated to RP with specificity level between 7 and 12
HPO ID | HPO term | Specificity |
|---|---|---|
HP:0000035 | Abnormal testis morphology | 9 |
HP:0000135 | Hypogonadism | 8 |
HP:0000405 | Conductive hearing impairment | 10 |
HP:0000407 | Sensorineural hearing impairment | 10 |
HP:0000431 | Wide nasal bridge | 8 |
HP:0000463 | Anteverted nares | 11 |
HP:0000518 | Cataract | 7 |
HP:0000563 | Keratoconus | 11 |
HP:0000602 | Ophthalmoplegia | 7 |
HP:0000613 | Photophobia | 9 |
HP:0000618 | Blindness | 8 |
HP:0000639 | Nystagmus | 7 |
HP:0000648 | Optic atrophy | 9 |
HP:0000842 | Hyperinsulinemia | 10 |
HP:0000987 | Atypical scarring of skin | 9 |
HP:0001249 | Intellectual disability | 7 |
HP:0001347 | Hyperreflexia | 7 |
HP:0005978 | Type II diabetes mellitus | 9 |
HP:0007675 | Progressive night blindness | 7 |
HP:0007703 | Abnormality of retinal pigmentation | 8 |
HP:0008046 | Abnormal retinal vascular morphology | 11 |
HP:0008736 | Hypoplasia of penis | 12 |