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Czeizel-Losonci syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Czeizel-Losonci syndrome
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Accession:EFO:MONDO:0008467 term browser browse the term
Definition:Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
Synonyms:exact_synonym: Orphanet:2437;   http://identifiers.org/medgen/401071;   http://identifiers.org/mesh/C566662;   http://linkedlifedata.com/resource/umls/id/C1866739;   https://omim.org/entry/183802;   split hand-urinary anomalies-spina bifida syndrome
 related_synonym: split hand urinary anomalies spina bifida;   split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
 alt_id: MONDO:0008467
 xref: GARD:4969;   MEDGEN:401071;   MESH:C566662;   MIM:183802;   ORDO:2437;   UMLS:C1866739

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            Czeizel-Losonci syndrome 0
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                multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0
                  Czeizel-Losonci syndrome 0
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