C0878659 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
|
Growth abnormality
|
77 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
53 |
C0543888 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
30 |
C2751260 |
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
Abnormality of blood and blood-forming tissues
|
5 |
C0265293 |
Frontometaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
2 |
C4281559 |
FRONTOMETAPHYSEAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
2 |
C0262436 |
Cardiac valvular dysplasia, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases
|
Congenital Abnormality
|
|
|
1 |
C2746068 |
Congenital idiopathic intestinal pseudoobstruction
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
|
|
1 |
C1845902 |
FG SYNDROME 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0025237 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C0265251 |
Oto-Palato-digital syndrome type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C1844696 |
OTOPALATODIGITAL SYNDROME, TYPE II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
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
|
|
1 |
C1846129 |
Terminal Osseous Dysplasia and Pigmentary Defects
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |