Experimental Factor Ontology
240 terms(s) returned
Term Type: | Record: 1 to 50 of 240 Records | Page: 1 of 5, First Previous Next Last | Show Records Per Page |
- CACH syndrome
- CADASIL
- CARASIL
- CHST3-related skeletal dysplasia
- CINCA syndrome with NLRP3 mutations
- CINCA syndrome without NLRP3 mutations
- CLN1 disease
- CLN10 disease
- CLN11 disease
- CLN13 disease
- CLN2 disease
- CLN3 disease
- CLN4A disease
- CLN4B disease
- CLN5 disease
- CLN6 disease
- CLN7 disease
- CLN8 disease
- CLN9 disease
- CLOVE syndrome
- COASY protein-associated neurodegeneration
- Calvarial doughnut lesions - bone fragility
- Camptodactyly - tall stature - scoliosis - hearing loss
- Camptodactyly - taurinuria
- Cantrell pentalogy
- Capillary malformation - arteriovenous malformation
- Cardiac anomalies - heterotaxy
- Cardiac anomalies-developmental delay-facial dysmorphism syndrome
- Cardiac disease with cataract
- Cardiodysrhythmic potassium-sensitive periodic paralysis
- Cardiomyopathy - cataract - hip spine disease
- Cardiomyopathy - hypotonia - lactic acidosis
- Carey-Fineman-Ziter syndrome
- Carney complex-trismus-pseudocamptodactyly syndrome
- Cataract - aberrant oral frenula - growth delay
- Cataract - ataxia - deafness
- Cataract - deafness - hypogonadism
- Cataract - hypertrichosis - intellectual disability
- Cataract - intellectual disability - anal atresia - urinary defects
- Cataract - intellectual disability - hypogonadism
- Cataract - nephropathy - encephalopathy
- Cataract associated with a metabolic disease
- Cataract with Y-shaped suture opacities
- Cataract-congenital heart disease-neural tube defect syndrome
- Cataract-microcornea syndrome
- Caudal appendage - deafness
- Cavernous hemangiomas of face - supraumbilical midline raphe
- Cenani-Lenz syndrome
- Central cloudy dystrophy of Francois
- Central core disease