Experimental Factor Ontology
51 terms(s) returned
| Term Type: | Record: 1 to 50 of 51 Records | Page: 1 of 2, First Previous Next Last | Show Records Per Page |
- Ear-patella-short stature syndrome
- Early infantile epileptic encephalopathy without suppression burst
- Early-onset X-linked optic atrophy
- Early-onset ataxia with dementia
- Early-onset parkinsonism - intellectual disability
- Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
- Early-onset spastic ataxia-neuropathy syndrome
- Ectodermal dysplasia - blindness
- Ectodermal dysplasia - cutaneous syndactyly syndrome
- Ectodermal dysplasia - intellectual disability - central nervous system malformation
- Ectodermal dysplasia - sensorineural deafness
- Ectodermal dysplasia - syndactyly syndrome
- Ectodermal malformation syndrome associated with ocular features
- Ectopia lentis - chorioretinal dystrophy - myopia
- Ectrodactyly - polydactyly
- Ehlers-Danlos syndrome type 1
- Ehlers-Danlos syndrome type 2
- Ehlers-Danlos syndrome with periventricular heterotopia
- Ehlers-Danlos syndrome, arthrochalasic type
- Ehlers-Danlos syndrome, kyphoscoliotic type
- Ehlers-Danlos syndrome, progeroid type
- Ellis Van Creveld syndrome
- Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
- Enchondromatosis
- Endosteal sclerosis - cerebellar hypoplasia
- Epibulbar lipodermoid - preauricular appendage - polythelia
- Epidermolysis bullosa simplex with circinate migratory erythema
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex with pyloric atresia
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, Ogna type
- Epilepsy - microcephaly - skeletal dysplasia
- Epilepsy and/or ataxia with myoclonus as major feature
- Epilepsy telangiectasia
- Epileptic encephalopathy with global cerebral demyelination
- Epiphyseal dysplasia - hearing loss - dysmorphism
- Episodic ataxia with slurred speech
- Epithelio-exfoliative colitis - deafness
- Erythema palmaris hereditarium
- Erythrokeratoderma "en cocardes
- Exercise intolerance with lactic acidosis
- Exostoses - anetodermia - brachydactyly type E
- Eyebrow duplication - syndactyly
- Eyebrow hypertrophy
- Eyebrow/eyelashes distichiasis
- Eyebrow/eyelashes hypertrichosis
- Eyebrow/eyelashes pigmentation anomaly
- Eyebrow/eyelashes structural anomaly
- Eyelashes hypertrophy
