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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Blepharoptosis (D001763)
Parent Node: Cryptorchidism (D003456)
Parent Node: Hip Dislocation, Congenital (D006618)
Parent Node: Strabismus (D013285)
..Starting node ..Carnevale syndrome (C535586)
Child Nodes:
Sister Nodes:
..Carnevale syndrome (C535586)
..Esotropia (D004948) 1
..Exotropia (D005099)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Krauss Herman Holmes syndrome (C537618)
..McPherson Robertson Cammarano syndrome (C538161)
..Mehes syndrome (C536146)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..Van Bogaert-Hozay syndrome (C536526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1773
Name:	Carnevale syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001763\|MESH:D003456\|MESH:D006618\|MESH:D013285
TreeNumbers:	C05.660.449/C535586 \|C10.292.562.887/C535586 \|C11.338.204/C535586 \|C11.590.810/C535586 \|C12.294.829.258/C535586 \|C12.706.258/C535586 \|C16.131.621.449/C535586 \|C16.131.939.258/C535586 \|C19.391.829.258/C535586
Synonyms:	Carnevale Krajewska Fischetto syndrome \|Oculo-skeletal-abdominal syndrome \|Ptosis of eyelids with diastasis recti and hip dysplasia
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Eye disease\|Musculoskeletal disease\|Nervous system disease\|Urogenital disease (male)
Reference:	MedGen: C535586 MeSH: C535586 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants