C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
2152 |
553 |
C0015230 |
Exanthema
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the integument; Abnormality of the immune system
|
251 |
14 |
C0456070 |
Growth delay
|
phenotype |
|
Pathologic Function
|
|
Growth abnormality
|
244 |
40 |
C0086437 |
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
|
Abnormality of the skeletal system
|
224 |
15 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1825 |
553 |
C0004352 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
1112 |
395 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
967 |
579 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
429 |
29 |
C1865014 |
Long philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
282 |
16 |
C0424503 |
Dysmorphic facies
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
271 |
106 |
C1865017 |
Thin upper lip vermilion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
211 |
25 |
C0333068 |
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
210 |
32 |
C0575802 |
Small hand
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
108 |
31 |
C1142533 |
Smooth philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
105 |
10 |
C0018808 |
Heart murmur
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of the cardiovascular system
|
31 |
10 |
C1857482 |
Slender finger
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
20 |
5 |
C4025148 |
Hyperextensible thumb
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
3 |
2 |
C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
850 |
135 |
C0024796 |
Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
130 |
1012 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
59 |
442 |
C1858556 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
36 |
31 |
C0019322 |
Umbilical hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
disease of anatomical entity; physical disorder
|
Abnormality of the digestive system; Abnormality of connective tissue
|
27 |
17 |
C1869115 |
Weill-Marchesani Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
|
3 |
23 |
C3541518 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
24 |
C4310796 |
MARFAN LIPODYSTROPHY SYNDROME
|
disease |
|
Disease or Syndrome
|
|
|
1 |
27 |