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3-methylcrotonyl-CoA carboxylase deficiency +
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
atrophic muscular disease +
autoimmune cardiomyopathy
Bacterial Lung Diseases +
Beta-Ureidopropionase Deficiency
Carnitine Palmitoyltransferase II Deficiency, Infantile
Central Auditory Diseases +
central nervous system origin vertigo
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrovascular disease +
chronic atrial and intestinal dysrhythmia
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
disease of mental health +
Encephalocraniocutaneous Lipomatosis
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, ACUTE TRANSIENT
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
Equine Strongyle Infections
eye accommodation disease +
eye degenerative disease +
Focal Nodular Hyperplasia
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 +
Hereditary Eye Diseases +
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
Hernandez Fragoso Syndrome
hypertensive heart disease
immunoglobulin light chain amyloidosis
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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
lacrimal apparatus disease +
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 Brain Diseases +
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
mitochondrial DNA depletion syndrome 6
Mollica-Pavone-Antener Syndrome
Muscle Tissue Neoplasms +
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
myostatin-related muscle hypertrophy
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
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 VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neuromuscular Oculoauditory Syndrome
newborn respiratory distress syndrome +
Non-Lissencephalic Cortical Dysplasia
obstructive lung disease +
ocular motility disease +
Ocular Neovascularization +
Parasitic Liver Diseases +
Parasitic Lung Diseases +
Phosphoenolpyruvate Carboxykinase Deficiency +
polycystic echinococcosis
polycystic liver disease +
Postpericardiotomy Syndrome
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
rippling muscle disease 1
senile degeneration of brain
Sepsis-Associated Encephalopathy
serum amyloid A amyloidosis
Severe Congenital Liver Disease
sinoatrial node disease +
steatotic liver disease +
syndromic microphthalmia 9
Thyrocerebral-Retinal Syndrome
toxocariasis + A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. (DO)
transthyretin amyloidosis
Trichohepatoneurodevelopmental Syndrome
Ventricular Dysfunction +
Ventricular Outflow Obstruction +
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