Experimental Factor Ontology
61 terms(s) returned
| Term Type: | Record: 1 to 50 of 61 Records | Page: 1 of 2, First Previous Next Last | Show Records Per Page |
- BOR syndrome
- Baraitser-Winter syndrome
- Basal epidermolysis bullosa simplex
- Basement membrane disease
- Bazex syndrome
- Bazex-Dupré-Christol syndrome
- Benign essential blepharospasm
- Benign familial chorea
- Benign familial neonatal seizures
- Benign familial neonatal-infantile seizures
- Benign infantile seizures associated to mild gastroenteritis
- Best vitelliform macular dystrophy
- Beta-thalassemia
- Beta-thalassemia - X-linked thrombocytopenia
- Beta-thalassemia associated with another hemoglobin anomaly
- Beta-thalassemia with other manifestations
- Bietti crystalline dystrophy
- Bilateral microtia - deafness - cleft palate
- Bilateral renal dysplasia
- Bilateral renal hypoplasia
- Bile acid synthesis defect with cholestasis and malabsorption
- Birt-Hogg-Dubé syndrome
- Björnstad syndrome
- Blackfan-Diamond anemia
- Bleeding diathesis due to glycoprotein VI deficiency
- Blepharo-cheilo-odontic syndrome
- Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
- Blepharophimosis - ptosis - esotropia - syndactyly - short stature
- Blepharophimosis - radioulnar synostosis
- Blepharophimosis-intellectual disability syndrome
- Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
- Blepharophimosis-intellectual disability syndrome, MKB type
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Blepharoptosis - cleft palate - ectrodactyly - dental anomalies
- Blepharoptosis - myopia - ectopia lentis
- Blepharospasm - oromandibular dystonia
- Blindness-scoliosis-arachnodactyly syndrome
- Blomstrand lethal chondrodysplasia
- Blue cone monochromatism
- Bowed tibiae - radial anomalies - osteopenia - fractures
- Brachydactyly - arterial hypertension
- Brachydactyly - elbow wrist dysplasia
- Brachydactyly - long thumb
- Brachydactyly - mesomelia - intellectual disability - heart defects
- Brachydactyly - nystagmus - cerebellar ataxia
- Brachydactyly - preaxial hallux varus
- Brachydactyly of fingers
- Brachydactyly of toes
