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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3MC syndrome +     
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 Ectopia Lentis 
Camptodactyly Syndrome Guadalajara Type 2 
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 
CODAS syndrome  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Myasthenic Syndrome, with Facial Dysmorphism 
congenital ptosis +   
conjugate gaze palsy 
Coxoauricular Syndrome 
cyclotropia 
Deafness Conductive Ptosis Skeletal Anomalies 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Developmental Dysplasia of the Hip 1  
Developmental Dysplasia of the Hip 2 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Duane retraction syndrome +   
Dwarfism 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 
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 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
monofixation syndrome 
Ohdo syndrome +   
Oliver-McFarlane syndrome  
Ophthalmoplegia Totalis with Ptosis and Miosis 
Otofacioosseous-Gonadal Syndrome 
paralytic squint +  
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 
Vertebral Fusion Posterior Lumbosacral Blepharoptosis 
Widow's Peak Syndrome 

Synonyms
Exact Synonyms: 3MC2 ;   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: OMIM:265050
Definition Sources: https://ghr.nlm.nih.gov/condition/3mc-syndrome, https://www.omim.org/entry/265050

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.