C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
63 |
92 |
C0239234 |
Low set ears
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
56 |
64 |
C0221356 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
19 |
18 |
C1837218 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
16 |
17 |
C0158731 |
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of the skeletal system
|
15 |
26 |
C0685409 |
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
7 |
9 |
C0008924 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity; syndrome; physical disorder
|
Abnormality of head or neck
|
5 |
6 |
C0022738 |
Klippel-Feil Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity; syndrome; physical disorder
|
Abnormality of the skeletal system
|
4 |
5 |
C0040147 |
Thyroiditis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system; Abnormality of the immune system
|
3 |
3 |
C0152438 |
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; physical disorder
|
Abnormality of the skeletal system
|
2 |
3 |
C0265695 |
Congenital fusion of ribs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
Abnormality of the skeletal system
|
2 |
2 |
C0685894 |
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system
|
2 |
2 |
C0271135 |
Ectopic pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
|
|
1 |
1 |
C0392006 |
Unilateral cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
disease of anatomical entity; syndrome; physical disorder
|
Abnormality of head or neck
|
1 |
1 |
C4022143 |
Unilateral cleft palate
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
1 |
1 |
C4748741 |
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
|
disease |
|
Disease or Syndrome
|
|
|
1 |
1 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
237 |
417 |
C0549629 |
Abnormal delivery
|
phenotype |
|
Pathologic Function
|
|
Abnormality of prenatal development or birth
|
32 |
37 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
31 |
39 |
C1837142 |
Poor suck
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
28 |
31 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
26 |
29 |
C0235659 |
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
|
Abnormality of prenatal development or birth
|
16 |
17 |
C1835884 |
Triangular face
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
13 |
16 |
C1837108 |
Decreased muscle mass
|
phenotype |
|
Finding
|
|
Abnormality of the musculature
|
11 |
12 |
C4012968 |
Mild global developmental delay
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
11 |
13 |