Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Parent Terms Term With Siblings Child Terms
3MC syndrome +     
craniosynostosis +     
Eye Abnormalities +     
3MC syndrome 1  
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)
3MC syndrome 2  
3MC syndrome 3  
ablepharon macrostomia syndrome  
acrocephalosyndactylia +   
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asymmetric Short Stature Syndrome 
Axenfeld-Rieger syndrome +   
Baller-Gerold syndrome  
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Beare-Stevenson cutis gyrata syndrome  
blepharophimosis +   
Blue Diaper Syndrome 
Bohring Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brittle cornea syndrome +   
Calabro Syndrome 
Chemke Oliver Mallek Syndrome 
chromosome 6pter-p24 deletion syndrome 
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
Craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis 
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
Cryptophthalmos, Unilateral or Bilateral, Isolated  
De Hauwere syndrome 
Desanto-Shinawi Syndrome  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
FACES Syndrome 
Fine-Lubinsky Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fraser syndrome +   
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia 2  
Frontoocular Syndrome 
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
hydrophthalmos +   
Iida Kannari Syndrome 
iridogoniodysgenesis syndrome +   
Jackson-Weiss syndrome  
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome 
Kleeblattschaedel Syndrome 
Loeys-Dietz syndrome +   
Lowry Maclean syndrome 
Maxillofacial Dysostosis 
Mehta Lewis Patton Syndrome 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
Muenke syndrome  
Nephrotic Syndrome with Ocular Anomalies 
Nonsyndromic Trigonocephaly +   
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Opitz Trigonocephaly Syndrome  
Pena Shokeir Syndrome Type 2 
persistent hyperplastic primary vitreous +   
Pfeiffer Tietze Welte Syndrome 
PHACE Association 
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Plagiocephaly and X-Linked Mental Retardation 
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
Pupillary Membrane, Persistence of 
Retinal Dysplasia +   
Rozin Hertz Goodman Syndrome 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
Schmid-Fraccaro Syndrome 
Sensenbrenner syndrome +   
Shprintzen Golberg Craniosynostosis  
Skeletal Dysplasia, San Diego Type 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stromme syndrome  
torsion dystonia with onset in infancy 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 

Exact Synonyms: 3MC1 ;   Craniosynostosis with lid anomalies ;   Michels syndrome ;   oculopalatoskeletal syndrome
Primary IDs: MESH:C537738
Alternate IDs: OMIM:257920 ;   RDO:0003631
Definition Sources:,

paths to the root


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