C1864356 |
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
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disease |
Musculoskeletal Diseases
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Disease or Syndrome
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genetic disease; disease of anatomical entity
|
|
1 |
C3711389 |
Actin-Accumulation Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0001308 |
Acute and subacute liver necrosis (disorder)
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C0162565 |
Acute intermittent porphyria
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C0268120 |
Adenine phosphoribosyltransferase deficiency
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C0032580 |
Adenomatous Polyposis Coli
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
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Neoplastic Process
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genetic disease
|
|
1 |
C0268124 |
Adenosine deaminase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C0001621 |
Adrenal Gland Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system
|
1 |
C0342388 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system; Abnormality of the endocrine system
|
1 |
C0162309 |
Adrenoleukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0341703 |
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the genitourinary system
|
1 |
C0278878 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
1 |
C0268413 |
Adult hypophosphatasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1332219 |
Adult Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
1 |
C3164344 |
Adult onset autosomal dominant leukodystrophy
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C3807327 |
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
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disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
C3887915 |
AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST
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phenotype |
|
Finding
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disease of mental health
|
|
1 |
C0001733 |
Afibrinogenemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0031106 |
Aggressive Periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C0001824 |
Agranulocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system; Abnormality of blood and blood-forming tissues
|
1 |
C0393591 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0796126 |
AICARDI-GOUTIERES SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C3150315 |
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C3489724 |
Aicardi-Goutieres Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C1835916 |
AICARDI-GOUTIERES SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |