C1854465 |
TUBEROUS SCLEROSIS 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
0 |
104 |
C0268450 |
Gitelman Syndrome
|
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
|
|
0 |
40 |
C1848213 |
Periventricular Heterotopia, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity; physical disorder
|
|
0 |
38 |
C2936904 |
Opitz GBBB Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
0 |
20 |
C1844696 |
OTOPALATODIGITAL SYNDROME, TYPE II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
0 |
19 |
C0025237 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
0 |
18 |
C3276096 |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
18 |
C0265293 |
Frontometaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
0 |
16 |
C3553617 |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
|
disease |
|
Disease or Syndrome
|
|
|
0 |
15 |
C1969562 |
Mental Retardation, Autosomal Dominant 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
0 |
13 |
C1969810 |
FEBRILE CONVULSIONS, FAMILIAL, 8
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
|
0 |
13 |
C3151443 |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
11 |
C1843244 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
0 |
10 |
C1955741 |
Glucocorticoid deficiency
|
disease |
|
Disease or Syndrome
|
|
|
0 |
9 |
C1843256 |
IRAK4 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
|
|
0 |
8 |
C1858677 |
LEBER CONGENITAL AMAUROSIS 3 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
0 |
6 |
C4693362 |
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
0 |
6 |
C1833136 |
Marden Walker like syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
0 |
5 |
C4479603 |
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
|
disease |
|
Disease or Syndrome
|
|
|
0 |
5 |
C0221043 |
Liddle Syndrome
|
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
|
|
0 |
4 |
C0268341 |
Ehlers-Danlos syndrome type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
0 |
4 |
C0265251 |
Oto-Palato-digital syndrome type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
0 |
3 |
C0279606 |
Childhood Hepatocellular Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
0 |
3 |
C0730294 |
North Carolina macular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
|
|
0 |
3 |
C2746068 |
Congenital idiopathic intestinal pseudoobstruction
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
|
|
0 |
3 |