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46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
Acute Febrile Encephalopathy
adult respiratory distress syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Alcoholic Liver Diseases +
alpha 1-antitrypsin deficiency
Alpha-2-Macroglobulin Deficiency
Athabaskan brainstem dysgenesis syndrome
autoimmune cardiomyopathy
Bacterial Lung Diseases +
Beta-Ureidopropionase Deficiency
bone development disease +
bone inflammation disease +
bone remodeling disease +
bone resorption disease +
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Carnitine Palmitoyltransferase II Deficiency, Infantile
Central Auditory Diseases +
central nervous system origin vertigo
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
cerebrovascular disease +
chronic atrial and intestinal dysrhythmia
Cloverleaf Skull Micromelia Thoracic Dysplasia
complex cortical dysplasia with other brain malformations +
Congenital Cerebral Granulomas
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
congenital heart disease +
Congenital Pulmonary Lymphangiectasia
congestive heart failure +
Cyanosis and Hepatic Disease
Cystic Adenomatoid Malformation of Lung, Congenital
cystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. (DO)
disease of mental health +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
Endocrine Bone Diseases +
Focal Nodular Hyperplasia
geroderma osteodysplasticum
Glycogen Storage Disease 0, Liver
glycogen storage disease IX +
glycogen storage disease VI
GM1 gangliosidosis type 1
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
GSD IV, Nonprogressive Hepatic
heart conduction disease +
hepatic vascular disease +
Ho Kaufman Mcalister Syndrome
hypertensive heart disease
immunoglobulin light chain amyloidosis
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infectious Bone Diseases +
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
INTERSTITIAL LUNG AND LIVER DISEASE
interstitial lung disease +
intracranial hypertension +
intrahepatic cholestasis +
Kashani Strom Utley Syndrome
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kuzniecky Andermann Syndrome
lethal congenital glycogen storage disease of heart
Liver Fibrocystic Disease and Polydactyly
liver inflammatory pseudotumor
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
lymphocytic choriomeningitis
maple bark strippers' lung
Metabolic Bone Diseases +
Metabolic Brain Diseases +
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
mitochondrial DNA depletion syndrome 6
Myoectodermal Gonadal Dysgenesis Syndrome
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
newborn respiratory distress syndrome +
Non-Lissencephalic Cortical Dysplasia
obstructive lung disease +
Osteootohepatoenteric Syndrome
Parasitic Liver Diseases +
Parasitic Lung Diseases +
Phosphoenolpyruvate Carboxykinase Deficiency +
polycystic echinococcosis
polycystic liver disease +
Postpericardiotomy Syndrome
primary hypertrophic osteoarthropathy +
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive Encephalopathy, with or without Lipodystrophy
pulmonary alveolar microlithiasis
pulmonary alveolar proteinosis +
pulmonary artery disease +
pulmonary plasma cell granuloma
pulmonary systemic sclerosis
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
renal-hepatic-pancreatic dysplasia +
Retinohepatoendocrinologic Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
senile degeneration of brain
Sepsis-Associated Encephalopathy
serum amyloid A amyloidosis
Severe Congenital Liver Disease
steatotic liver disease +
syndromic microphthalmia 9
Thyrocerebral-Retinal Syndrome
transthyretin amyloidosis
Tricho-Dento-Osseous Syndrome 1
Trichohepatoneurodevelopmental Syndrome
Trochlea of the Humerus, Aplasia of
Ventricular Dysfunction +
Ventricular Outflow Obstruction +
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