C4747922 |
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
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disease |
|
Disease or Syndrome
|
|
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1 |
C4747737 |
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
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disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C4721769 |
Citrullinemia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
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disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
23 |
C4693974 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
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disease |
|
Disease or Syndrome
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genetic disease; disease of metabolism
|
|
1 |
C4693498 |
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
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disease |
|
Disease or Syndrome
|
|
|
1 |
C4554406 |
FANCONI ANEMIA, COMPLEMENTATION GROUP S
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disease |
|
Disease or Syndrome
|
|
|
1 |
C4552100 |
Lynch Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
3 |
C4552072 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
5 |
C4551981 |
Familial Multiple Coagulation Factor Deficiency I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4551966 |
GLUT1 DEFICIENCY SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
C4551859 |
RUBINSTEIN-TAYBI SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C4551804 |
Brugada Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
11 |
C4520892 |
Otospondylomegaepiphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C4518338 |
Wolfram-like syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
C4510276 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
C4321324 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
|
|
4 |
C4321247 |
Mitochondrial DNA Depletion Syndrome 12
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
C4310822 |
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4310775 |
DEAFNESS, AUTOSOMAL DOMINANT 70
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C4310719 |
FAMILIAL ADENOMATOUS POLYPOSIS 4
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C4310714 |
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
|
disease |
|
Neoplastic Process
|
|
|
1 |
C4310657 |
CONE-ROD DYSTROPHY AND HEARING LOSS
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C4310645 |
MYOPATHY, MYOFIBRILLAR, 8
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C4310631 |
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
|
disease |
|
Disease or Syndrome
|
|
|
1 |