C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C0015544 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
734 |
C0033377 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
558 |
C0008925 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
446 |
C0520947 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
disease of mental health
|
|
363 |
C4551915 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
|
|
299 |
C0016842 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
259 |
C1306503 |
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
216 |
C0024523 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
175 |
C1963165 |
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
|
|
175 |
C1845977 |
X- linked recessive
|
phenotype |
|
Finding
|
|
|
172 |
C0266551 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
144 |
C0600033 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
|
|
135 |
C0410528 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
114 |
C3279947 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
70 |
C1847879 |
X-linked dominant inheritance
|
phenotype |
|
Finding
|
|
|
65 |
C0266491 |
Neuronal heterotopia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
|
|
62 |
C0020678 |
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
59 |
C0426807 |
Short clavicle
|
phenotype |
|
Finding
|
|
|
26 |
C0595939 |
Stillbirth
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
|
|
23 |
C2981140 |
Glaucoma of childhood
|
disease |
Eye Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
20 |
C1868720 |
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity; physical disorder
|
|
19 |
C3887590 |
Stricture of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
|
|
10 |
C0040034 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
252 |
C1458140 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
65 |