Table 1.
Hierarchical structure of some of the phenotype categories considered in GFINDer, as derived from the correspondent phenotype descriptions provided by OMIM databank.
| Phenotype |
| Aphasia |
| Biliary atresia |
| extrahepatic |
| Bleeding diathesis |
| Cardiomyopathy |
| Coarse facies |
| Deafness |
| sensorineural |
| prelingual |
| profound |
| Edema |
| Elevated IgA |
| Femoral bowing |
| present at birth |
| straightening with time |
| Gastric ulcer |
| Hallux valgus |
| Hemolytic anemia |
| following ingestion of fava beans |
| Hypertension |
| Mental retardation |
| Pain insensitivity |
| distal |
| Psychosis |
| Ptosis |
| Quadriplegia |
| episodic |
| Recurrent sinusitis |
| Renal failure |
| reversible |
| Seizure |
| Severe ataxia |
| Temperature insensitivity |
| distal |
| in some patients |