C	C98983	Melnick-Fraser Syndrome	Branchio-oto-renal Syndrome	Melnick-Fraser Syndrome	An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.	A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C7541	Retinoblastoma	Retinoblastoma		A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	A malignant tumor of the eye comprised of immature retinal cells.	C9305	Cancer			C99147	Neonatal Research Network Terminology		
D	C43262	Exophthalmos	Exophthalmos		A protrusion of the eyeball from the socket.		C99208	Eye Finding			C99147	Neonatal Research Network Terminology		
D	C92781	Beat to Beat Variability	Beat to Beat Variability	Fetal Heart Rate Variability	A fetal heart monitor finding where there is a change in the beats per minute from one fetal heart beat to the next.		C92790	Fetal Heart Rate Variability			C99147	Neonatal Research Network Terminology