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EA
see
episodic ataxia
EA/TEF
see
esophageal atresia/tracheoesophageal fistula
EAC
see
multiple familial trichoepithelioma
EAOH
see
ataxia with oculomotor apraxia
Ear Disorders
early infantile epileptic encephalopathy
see
X-linked infantile spasm syndrome
early-onset ataxia with ocular motor apraxia and hypoalbuminemia
see
ataxia with oculomotor apraxia
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
see
holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency
see
holocarboxylase synthetase deficiency
early-onset glaucoma
early-onset myopathy with fatal cardiomyopathy
see
Salih myopathy
early-onset primary dystonia
early-onset sarcoidosis
see
Blau syndrome
EB-PA
see
epidermolysis bullosa with pyloric atresia
Ectodermal Dysplasia
Ectopic Ossification
see
progressive osseous heteroplasia
Eczema
eczema-thrombocytopenia-immunodeficiency syndrome
see
Wiskott-Aldrich syndrome
EDM1
see
multiple epiphyseal dysplasia
EDM2
see
multiple epiphyseal dysplasia
EDM3
see
multiple epiphyseal dysplasia
EDM4
see
multiple epiphyseal dysplasia
EDM5
see
multiple epiphyseal dysplasia
EDMD
see
Emery-Dreifuss muscular dystrophy
EDS
see
Ehlers-Danlos syndrome
Edstrom myopathy
see
hereditary myopathy with early respiratory failure
Edwards syndrome
see
trisomy 18
EHK
see
epidermolytic hyperkeratosis
Ehlers-Danlos syndrome
Electron transfer flavoprotein deficiency
see
glutaric acidemia type II
Elevated cholesterol
see
hypercholesterolemia
Elfin Facies Syndrome
see
Williams syndrome
Elfin facies with hypercalcemia
see
Williams syndrome
Ellis-van Creveld syndrome
EMA
see
glutaric acidemia type II
Emanuel syndrome
EME
see
ethylmalonic encephalopathy
Emery-Dreifuss muscular dystrophy
EMG syndrome
see
Beckwith-Wiedemann syndrome
Emphysema
see
alpha-1 antitrypsin deficiency
encephalopathy due to GLUT1 deficiency
see
GLUT1 deficiency syndrome
Encephalopathy, petechiae, and ethylmalonic aciduria
see
ethylmalonic encephalopathy
encephalopathy with basal ganglia calcification
see
Aicardi-Goutieres syndrome
enchondromatosis with hemangiomata
see
Maffucci syndrome
Endocrine Diseases
Endocrine Neoplasia, Multiple
see
multiple endocrine neoplasia
Engelmann's Disease
see
Camurati-Engelmann disease
enlarged parietal foramina
enteric neuropathy
see
intestinal pseudo-obstruction
Enteritis, Granulomatous
see
Crohn disease
Enteritis, Regional
see
Crohn disease
entrapment neuropathy
see
hereditary neuropathy with liability to pressure palsies
Eosinophilic Disorders
EPD
see
pyridoxine-dependent epilepsy
EPEMA syndrome
see
ethylmalonic encephalopathy
epidermal nevus
Epidermolysis Bullosa
Epidermolysis Bullosa, Dystrophic
see
dystrophic epidermolysis bullosa
Epidermolysis Bullosa Dystrophica
see
dystrophic epidermolysis bullosa
Epidermolysis Bullosa, Junctional
see
junctional epidermolysis bullosa
epidermolysis bullosa simplex
epidermolysis bullosa with pyloric atresia
epidermolytic hyperkeratosis
Epilepsies, Partial
Epilepsy
Epilepsy, Frontal Lobe
see
autosomal dominant nocturnal frontal lobe epilepsy
Epilepsy, partial, with auditory features
see
autosomal dominant partial epilepsy with auditory features
epilepsy, progressive myoclonic, Lafora
see
Lafora progressive myoclonus epilepsy
epilepsy, pyridoxine-dependent
see
pyridoxine-dependent epilepsy
Epiloia
see
tuberous sclerosis complex
Epimerase deficiency galactosemia
see
galactosemia
Epiphyseal dysplasia, Fairbank type
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 1
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 2
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 3
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 4
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 5
see
multiple epiphyseal dysplasia
Epiphyseal dysplasia, Ribbing type
see
multiple epiphyseal dysplasia
Episkopi blindness
see
Norrie disease
episodic ataxia
epithelioma adenoides cysticum of Brooke
see
multiple familial trichoepithelioma
EPM1
see
Unverricht-Lundborg disease
EPM1B
see
PRICKLE1-related progressive myoclonus epilepsy with ataxia
Epstein-Barr virus-induced lymphoproliferative disease in males
see
X-linked lymphoproliferative disease
erythermalgia
see
erythromelalgia
erythroblastic anemia
see
beta thalassemia
erythrogenesis imperfecta
see
Diamond-Blackfan anemia
Erythroid 5-aminolevulinate synthase deficiency
see
X-linked sideroblastic anemia
erythromelalgia
Escobar syndrome
see
multiple pterygium syndrome
Esophageal Atresia
see
esophageal atresia/tracheoesophageal fistula
esophageal atresia/tracheoesophageal fistula
Esophagus Disorders
essential blepharospasm
see
benign essential blepharospasm
essential thrombocythemia
essential tremor
ETFA deficiency
see
glutaric acidemia type II
ETFB deficiency
see
glutaric acidemia type II
ETFDH deficiency
see
glutaric acidemia type II
Ethylmalonic-adipicaciduria
see
glutaric acidemia type II
ethylmalonic encephalopathy
ETL1
see
autosomal dominant partial epilepsy with auditory features
Eulenburg Disease
see
paramyotonia congenita
Ewing sarcoma
exercise-induced myopathy
see
adenosine monophosphate deaminase deficiency
Exomphalos-Macroglossia-Gigantism Syndrome
see
Beckwith-Wiedemann syndrome
exostoses, multiple hereditary
see
hereditary multiple exostoses
Eye Cancer
see
retinoblastoma
Eye Diseases
Eye Diseases, Hereditary
Eye Movement Disorders
Eyelid Disorders
eyelid twitching
see
benign essential blepharospasm
Published: February 11, 2013