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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hirschsprung disease
Symptom C1275808|congenital central hypoventilation
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PubMedID- 21286029 congenital central hypoventilation syndrome with hirschsprung's disease, also known as haddad syndrome, is an extremely rare disorder with variable symptoms.
PubMedID- 23427517 congenital central hypoventilation syndrome with hirschsprung's disease due to phox2b gene mutation in a turkish infant.

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