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EA
see
episodic ataxia
EAOH
see
ataxia with oculomotor apraxia
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 primary dystonia
Ectodermal Dysplasia
Ectopic Ossification
see
progressive osseous heteroplasia
Eczema
see
Wiskott-Aldrich syndrome
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
Edwards Syndrome
see
trisomy 18
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
Endocrine Diseases
Endocrine Neoplasia, Multiple
see
multiple endocrine neoplasia
Engelmann's Disease
see
Camurati-Engelmann disease
enlarged parietal foramina
Enteritis, Granulomatous
see
Crohn disease
Enteritis, Regional
see
Crohn disease
entrapment neuropathy
see
hereditary neuropathy with liability to pressure palsies
EPD
see
pyridoxine-dependent epilepsy
EPEMA syndrome
see
ethylmalonic encephalopathy
Epidermolysis Bullosa
Epidermolysis Bullosa, Dystrophic
see
dystrophic epidermolysis bullosa
Epidermolysis Bullosa Dystrophica
see
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
Epilepsies, Partial
see
autosomal dominant partial epilepsy with auditory features
Epilepsy
Epilepsy, partial, with auditory features
see
autosomal dominant partial epilepsy with auditory features
epilepsy, pyridoxine-dependent
see
pyridoxine-dependent epilepsy
Epiloia
see
tuberous sclerosis
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
EPM1
see
Unverricht-Lundborg disease
Erythermalgia
see
erythromelalgia
Erythroblastic Anemia
see
beta thalassemia
Erythroid 5-aminolevulinate synthetase deficiency
see
X-linked sideroblastic anemia
erythromelalgia
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
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
Published: January 23, 2009