C4329210 |
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
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disease |
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Disease or Syndrome
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genetic disease; disease of anatomical entity
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|
1 |
C3665382 |
2,8-Dihydroxyadenine Urolithiasis
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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
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C1853490 |
22q13.3 Deletion Syndrome
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Disease or Syndrome
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genetic disease
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|
1 |
C0574083 |
3-Methylglutaconic aciduria type 2
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
2 |
C0574084 |
3-Methylglutaconic aciduria type 3
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
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Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C0878676 |
6-pyruvoyl-tetrahydropterin synthase deficiency
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
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genetic disease; disease of metabolism
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|
1 |
C0265425 |
9p partial monosomy syndrome
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disease |
Pathological Conditions, Signs and Symptoms
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Disease or Syndrome
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genetic disease
|
|
1 |
C0175701 |
Aarskog syndrome
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
9 |
C2930930 |
Abdominal obesity metabolic syndrome
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disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
7 |
C0432333 |
Abnormal dermatoglyphic pattern
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
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genetic disease; disease of anatomical entity
|
Abnormality of the integument
|
1 |
C0221199 |
Abnormal palmar creases
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
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genetic disease; disease of anatomical entity
|
Abnormality of the integument; Abnormality of limbs
|
1 |
C0271749 |
Abnormality of cortisol-binding globulin
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disease |
Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1861923 |
Acampomelic Campomelic Dysplasia
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0265559 |
Acheiropodia
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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Congenital Abnormality
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genetic disease; disease of anatomical entity
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|
1 |
C0265273 |
Achondrogenesis type 1A
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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Congenital Abnormality
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genetic disease; disease of anatomical entity
|
|
1 |
C0220685 |
Achondrogenesis type 2
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
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genetic disease; disease of anatomical entity
|
|
1 |
C0001080 |
Achondroplasia
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disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
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genetic disease; disease of anatomical entity
|
|
4 |
C0152200 |
Achromatopsia
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disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
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Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
C1857618 |
Achromatopsia 2
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disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
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Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the eye
|
1 |
C1849792 |
Achromatopsia 3
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disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C1841721 |
ACHROMATOPSIA 4
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disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C0001125 |
Acidosis, Lactic
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phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
C1719382 |
Acquired torsion dystonia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0917990 |
Acro-Osteolysis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
C0796147 |
Acrocallosal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
syndrome
|
|
1 |