C4082304 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
C1112155 |
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
genetic disease
|
|
11 |
C4510744 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
|
|
11 |
C0268363 |
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
10 |
C1868683 |
B-CELL MALIGNANCY, LOW-GRADE
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
10 |
C1167664 |
Situs ambiguous
|
disease |
|
Congenital Abnormality
|
|
|
9 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
9 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
9 |
C1701939 |
Familial pulmonary arterial hypertension
|
disease |
|
Disease or Syndrome
|
|
|
8 |
C1855681 |
Nephronophthisis, familial juvenile
|
disease |
|
Disease or Syndrome
|
|
|
7 |
C4757950 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
7 |
C1838604 |
EPILEPSY, CHILDHOOD ABSENCE, 1
|
disease |
|
Disease or Syndrome
|
|
|
6 |
C3854603 |
FNAITP
|
disease |
|
Disease or Syndrome
|
|
|
6 |
C0271093 |
Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
5 |
C1855465 |
STARGARDT DISEASE 1 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
5 |
C3280742 |
SYSTEMIC LUPUS ERYTHEMATOSUS 16
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
5 |
C4708599 |
Coloboma of choroid and retina
|
disease |
|
Congenital Abnormality
|
|
|
5 |
C4304537 |
2p21 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
C4304832 |
Primary pigmented nodular adrenocortical disease
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
4 |
C4755264 |
Severe intellectual disability and progressive spastic paraplegia
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
4 |
C0272170 |
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
3 |
C0280321 |
Squamous cell carcinoma of the hypopharynx
|
disease |
|
Neoplastic Process
|
|
|
3 |
C0555202 |
Malignant lymphoma - lymphocytic, intermediate differentiation
|
disease |
|
Neoplastic Process
|
|
|
3 |
C0852283 |
Respiratory Distress Syndrome
|
disease |
|
Disease or Syndrome
|
|
|
3 |
C0872218 |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
3 |