C1855114 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
78 |
C0017921 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
77 |
C0027831 |
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
genetic disease
|
|
1 |
72 |
C0393808 |
Charcot-Marie-Tooth disease, X-linked, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
72 |
C1848634 |
USHER SYNDROME, TYPE IIA
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
72 |
C0085548 |
Autosomal Recessive Polycystic Kidney Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
71 |
C0751202 |
Cystathionine beta-Synthase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
68 |
C4082171 |
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
67 |
C0015503 |
Factor VII Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
1 |
66 |
C0403399 |
Finnish congenital nephrotic syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
66 |
C1861862 |
Familial Hypertrophic Cardiomyopathy Type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
64 |
C0085390 |
Li-Fraumeni Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
63 |
C0015523 |
Hereditary Factor XI Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
Abnormality of blood and blood-forming tissues
|
1 |
56 |
C0019562 |
Von Hippel-Lindau Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity; disease of cellular proliferation
|
|
1 |
56 |
C0023522 |
Leukodystrophy, Metachromatic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
56 |
C0340968 |
Deficiency of pyruvate kinase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
56 |
C3714753 |
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
56 |
C4551504 |
Oculocutaneous albinism type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
56 |
C0342788 |
Renal carnitine transport defect
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
55 |
C0086651 |
Mucopolysaccharidosis, MPS-IV-A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
54 |
C0751951 |
Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
54 |
C3149841 |
POLYCYSTIC KIDNEY DISEASE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
54 |
C0008533 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
53 |
C0268413 |
Adult hypophosphatasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
53 |
C0410190 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
52 |