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46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
Acute Febrile Encephalopathy
adult respiratory distress syndrome
allergic cutaneous vasculitis +
alpha 1-antitrypsin deficiency
Alpha-2-Macroglobulin Deficiency
Athabaskan brainstem dysgenesis syndrome
autoimmune disease of skin and connective tissue +
Bacterial Lung Diseases +
Beta-Ureidopropionase Deficiency
Boudhina Yedes Khiari syndrome
Central Auditory Diseases +
central nervous system origin vertigo
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
cerebrovascular disease +
complex cortical dysplasia with other brain malformations +
Congenital Cerebral Granulomas
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
Congenital Pulmonary Lymphangiectasia
contagious pustular dermatitis
cutaneous lupus erythematosus +
Cystic Adenomatoid Malformation of Lung, Congenital
disease of mental health +
Duplication of Eyebrows with Stretchable Skin and Syndactyly
Ectodermal Dysplasia-Skin Fragility Syndrome
Eczematous Skin Diseases +
Elastosis Perforans Serpiginosa
Elliott Ludman Teebi Syndrome
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
endometriosis in scar of skin
erythematosquamous dermatosis
granulomatosis with polyangiitis +
Hernandez Fragoso Syndrome
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infectious Skin Diseases +
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
interstitial lung disease +
intracranial hypertension +
Kashani Strom Utley Syndrome
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kuzniecky Andermann Syndrome
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
lymphocytic choriomeningitis
Macroepiphyseal Dysplasia, McAlister Coe Type
maple bark strippers' lung
maxillary sinus cholesteatoma
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Metabolic Brain Diseases +
Metabolic Skin Diseases +
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
multicentric reticulohistiocytosis
multiple cutaneous and mucosal venous malformations
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Necrolytic Migratory Erythema
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
Nephrogenic Fibrosing Dermopathy
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
newborn respiratory distress syndrome +
Non-Lissencephalic Cortical Dysplasia
noninfectious dermatoses of eyelid +
obstructive lung disease +
Papulosquamous Skin Diseases +
Paranasal Sinus Neoplasms +
Parasitic Lung Diseases +
phaeohyphomycosis + A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. (DO)
photosensitivity disease +
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
reactive cutaneous fibrous lesion +
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
Roy Maroteaux Kremp Syndrome
sebaceous gland disease +
senile degeneration of brain
Sepsis-Associated Encephalopathy
syndromic microphthalmia 9
Thyrocerebral-Retinal Syndrome
verruciform xanthoma of skin
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
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