C0340427 |
Familial dilated cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
44 |
C0022521 |
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
33 |
C4317124 |
Polynesian Bronchiectasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
33 |
C4551720 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
33 |
C4551906 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
33 |
C2931498 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
32 |
C1868672 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
29 |
C3489532 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
29 |
C1838979 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
28 |
C0162809 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
26 |
C1843687 |
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
22 |
C3711387 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; physical disorder
|
|
22 |
C0339527 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
21 |
C1292769 |
Precursor B-cell lymphoblastic leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
|
|
21 |
C4551568 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
|
20 |
C1112705 |
Nuclear non-senile cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
|
|
18 |
C0035828 |
Romano-Ward Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
16 |
C0266539 |
Congenital total cataract
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
16 |
C0028326 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
15 |
C0265215 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
15 |
C0004943 |
Behcet Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C0085786 |
Hamman-Rich syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C0265221 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
14 |
C0393706 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C0677776 |
Hereditary Breast and Ovarian Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Neoplastic Process
|
genetic disease; syndrome
|
|
14 |