renal coloboma syndrome
autosomal dominant disease characterized by optic nerve coloboma and renal disease
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renal coloboma syndrome
Summary
renal coloboma syndrome is a developmental defect during embryogenesis[1].
Key Facts
- renal coloboma syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- renal coloboma syndrome's instance of is recorded as rare disease[3].
- renal coloboma syndrome's instance of is recorded as class of disease[4].
- renal coloboma syndrome is a type of kidney disease[5].
- renal coloboma syndrome is a type of coloboma of optic nerve[6].
- renal coloboma syndrome is a type of autosomal dominant disease[7].
- renal coloboma syndrome is a type of syndromic developmental defect of the eye[8].
- renal coloboma syndrome is a type of syndromic renal or urinary tract malformation[9].
- renal coloboma syndrome is a type of rare eye disease due to a differentiation anomaly[10].
- renal coloboma syndrome is a type of syndrome[11].
- renal coloboma syndrome's ICD-9-CM is recorded as 759.89[12].
- renal coloboma syndrome's NCI Thesaurus ID is recorded as C123230[13].
- renal coloboma syndrome's health specialty is recorded as medical genetics[14].
- renal coloboma syndrome's genetic association is recorded as PAX2[15].
- renal coloboma syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090006[16].
- renal coloboma syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0090006[17].
- renal coloboma syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1475[18].
- renal coloboma syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].