C1850627 |
Nasodigitoacoustic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
|
2 |
6 |
C1839277 |
Submucous cleft lip
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
|
Abnormality of head or neck
|
2 |
0 |
C1839279 |
Six lumbar vertebrae
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
2 |
0 |
C1839285 |
Two carpal ossification centers present at birth
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
2 |
0 |
C1839269 |
Duplication of renal pelvis
|
phenotype |
|
Finding
|
|
Abnormality of the genitourinary system
|
3 |
0 |
C1839276 |
Broad secondary alveolar ridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
4 |
0 |
C1866689 |
Short sacroiliac notch
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
4 |
0 |
C4021326 |
Aplasia/Hypoplasia of the distal phalanges of the toes
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
4 |
0 |
C1840307 |
Distal shortening of limbs
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
6 |
3 |
C1839271 |
Birth length greater than 97th percentile
|
phenotype |
|
Finding
|
|
Growth abnormality
|
6 |
2 |
C0796113 |
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
syndrome
|
|
7 |
5 |
C1850087 |
Narrow sacroiliac notch
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
7 |
0 |
C1862142 |
Short 2nd finger
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
7 |
0 |
C0432055 |
Simple syndactyly of fingers - first web
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
9 |
0 |
C4021539 |
Posterior helix pit
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
9 |
0 |
C4317043 |
Simpson-Golabi-Behmel syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
9 |
0 |
C0206641 |
Osteochondromatosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
genetic disease; disease of anatomical entity
|
|
10 |
1 |
C1850630 |
Broad distal phalanx of finger
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
10 |
0 |
C1850629 |
Exaggerated cupid's bow
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
11 |
6 |
C1865038 |
Broad toe
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
11 |
2 |
C0158779 |
Cervical rib
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the skeletal system
|
11 |
0 |
C0006384 |
Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
|
Abnormality of the cardiovascular system
|
12 |
0 |
C0597167 |
Islets of Langerhans hyperplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
|
Abnormality of the digestive system; Abnormality of the endocrine system
|
12 |
0 |
C1856659 |
Polysplenia
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system
|
15 |
0 |
C1846423 |
Thick upper lip vermilion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
16 |
4 |