C1409792 |
Coronary sinus defect
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
4 |
C2673610 |
JEB-I
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
4 |
C2910126 |
Patent or persistent ostium secundum defect (type II)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
4 |
C2910127 |
Patent or persistent sinus venosus defect
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
4 |
C3536741 |
Discordant ventriculoarterial connection
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
4 |
C0311251 |
Simple buphthalmos
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
3 |
C0344692 |
Isomerism of atrial appendages
|
disease |
|
Congenital Abnormality
|
genetic disease; physical disorder
|
|
3 |
C1876172 |
VAH, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
genetic disease; physical disorder
|
|
3 |
C2875058 |
Familial torsion dystonia
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
3 |
C2910124 |
Isomerism of atrial appendages with asplenia or polysplenia
|
disease |
|
Congenital Abnormality
|
genetic disease; physical disorder
|
|
3 |
C3150942 |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
3 |
C3280526 |
ARTHROGRYPOSIS, DISTAL, TYPE 1B
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
3 |
C3554415 |
Distal arthrogryposis type 5D
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
3 |
C4083048 |
SPONDYLOCOSTAL DYSOSTOSIS 5
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
3 |
C4746745 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
3 |
C0271093 |
Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
C0272170 |
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
2 |
C0431692 |
Bilateral renal hypoplasia
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of the genitourinary system
|
2 |
C0432066 |
Congenital malformation syndromes affecting facial appearance
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
|
2 |
C0477362 |
Other specified extrapyramidal and movement disorders
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
C0477506 |
Other specified nonscarring hair loss
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
C0477971 |
Other reduction deformities of brain
|
disease |
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder
|
|
2 |
C0478007 |
Other malformations of cerebral vessels
|
disease |
|
Congenital Abnormality
|
disease of anatomical entity
|
|
2 |
C0478099 |
Other deletions of part of a chromosome
|
disease |
|
Congenital Abnormality
|
genetic disease
|
|
2 |
C0796221 |
MENTAL RETARDATION, X-LINKED 15
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
2 |