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cataract - congenital heart disease - neural tube defect syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011995

Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. [ Orphanet:314993 ]

Term info

database cross reference
  • UMLS:C1842363 (OMIM:608227)
  • OMIM:608227 (Orphanet:314993/e)
  • Orphanet:314993 (OMIM:608227)
  • MESH:C564271 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation [ OMIM:608227 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.

exactMatch

http://identifiers.org/mesh/C564271, http://linkedlifedata.com/resource/umls/id/C1842363, https://omim.org/entry/608227, http://purl.obolibrary.org/obo/Orphanet_314993

has related synonym

craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation, craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability

id

MONDO:0011995