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 |