C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C0221357 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
30 |
39 |
C0338656 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
26 |
25 |
C0239479 |
Round face
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
3 |
3 |
C0020598 |
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
2 |
3 |
C4540135 |
PITUITARY ADENOMA 3, MULTIPLE TYPES
|
disease |
|
Neoplastic Process
|
|
|
1 |
6 |
C0151811 |
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
|
Abnormality of the integument
|
1 |
1 |
C1857451 |
Acth-Independent Macronodular Adrenal Hyperplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
4 |
C0334041 |
Osteoma cutis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument
|
1 |
3 |
C0039621 |
Tetany
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
1 |
1 |
C0028754 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Growth abnormality
|
24 |
42 |
C0242292 |
McCune-Albright Syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
8 |
C1864100 |
PSEUDOHYPOPARATHYROIDISM, TYPE IB
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
2 |
C2932716 |
Pseudohypoparathyroidism Type 1C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
5 |
C0033835 |
Pseudopseudohypoparathyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
11 |
C3494506 |
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
11 |