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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
3MC syndrome +     
Congenital Hip Dislocation +     
cryptorchidism +     
ptosis +     
strabismus +     
3MC syndrome 1  
3MC syndrome 2  
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)
3MC syndrome 3  
Alazami-Yuan Syndrome  
Arroyo Garcia Cimadevilla Syndrome 
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Baraitser-Winter syndrome +   
Beukes hip dysplasia  
binocular vision disease +  
Blepharoptosis, Myopia, and Ectopia Lentis 
BROWN SYNDROME  
Camptodactyly Syndrome Guadalajara Type 2 
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 
CODAS syndrome  
Conductive Deafness with Ptosis and Skeletal Anomalies 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital fibrosis of the extraocular muscles 2  
Congenital Myasthenic Syndrome, with Facial Dysmorphism 
congenital ptosis +   
conjugate gaze palsy  
Coxoauricular Syndrome 
cyclotropia 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
developmental dysplasia of the hip +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Duane retraction syndrome +   
Dwarfism with Tall Vertebrae 
esotropia +   
exotropia +   
frontonasal dysplasia 2  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Mental Deficiency Syndrome of Myhre  
Hemifacial Hyperplasia with Strabismus 
Ho Kaufman Mcalister Syndrome 
hypertropia 
hypotropia 
Ichthyosis and Male Hypogonadism 
Impaired intellectual development, anterior maxillary protrusion, and strabismus  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
intermittent squint 
internuclear ophthalmoplegia 
jaw-winking syndrome  
Keratoconus and Congenital Hip Dysplasia 
Krauss Herman Holmes Syndrome 
Lynch Lee Murday syndrome 
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
McDonough Syndrome 
McPherson Robertson Cammarano Syndrome 
mechanical strabismus +  
Mehes Syndrome 
Mehta Lewis Patton Syndrome 
monofixation syndrome 
Ohdo syndrome +   
Oliver-McFarlane syndrome  
Ophthalmoplegia Totalis with Ptosis and Miosis 
Otofacioosseous-Gonadal Syndrome 
paralytic squint +   
Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 
Proportionate Dwarfism with Hip Dislocation 
Ptosis, Strabismus, and Ectopic Pupils 
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Testicular Anomalies with or without Congenital Heart Disease  
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Treft Sanborn Carey Syndrome 
Tucker Syndrome 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Widow's Peak Syndrome 

Synonyms
Exact Synonyms: 3MC2 ;   COLEC11-RELATED CONDITION ;   Carnevale Krajewska Fischetto syndrome ;   Carnevale Syndrome ;   OSA Syndrome ;   oculo-skeletal-abdominal syndrome ;   ptosis of eyelids with diastasis recti and hip dysplasia
Primary IDs: MESH:C535586
Alternate IDs: MIM:265050
Xrefs: EFO:1001977
Definition Sources: https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO" "DO", https://www.omim.org/entry/265050 "DO" "DO"

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