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Ontology Browser

Parent Terms Term With Siblings Child Terms
Encephalocele +     
Meckel syndrome +     
polydactyly +     
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Arima Syndrome 
asphyxiating thoracic dystrophy +   
autosomal dominant polycystic kidney disease +   
autosomal recessive polycystic kidney disease +   
Biemond Syndrome II 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Crossed Polydactyly, Type I  
Crossed Polysyndactyly 
Culler-Jones syndrome  
Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 
Daneman Davy Mancer Syndrome 
Desbuquois dysplasia +   
DK Phocomelia Syndrome 
Fronto-Facio-Nasal Dysplasia 
Garret Tripp Syndrome 
Hirschsprung Disease Polydactyly Heart Disease 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 
holoprosencephaly 9  
hydrolethalus syndrome +   
hypoplastic or aplastic tibia with polydactyly  
Knobloch Syndrome  
Knobloch Syndrome Type II 
Knobloch Syndrome Type III 
Kozlowski-Krajewska Syndrome 
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Laurence Prosser Rocker Syndrome 
Liver Fibrocystic Disease and Polydactyly 
Maroteaux Fonfria Syndrome 
McKusick-Kaufman syndrome  
Meckel syndrome 1  
Meckel syndrome 13  
Meckel syndrome 2  
Meckel syndrome 3  
Meckel syndrome 4  
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. (DO)
Meckel syndrome 5  
Meckel syndrome 6  
Meckel syndrome 7  
Meckel syndrome 8  
Meckel Syndrome, Type 10  
Meckel Syndrome, Type 11  
Meckel Syndrome, Type 12  
Meckel Syndrome, Type 9  
Meckel-Like Cerebrorenodigital Syndrome 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Mexican Cardiomelic Dysplasia 
Pallister-Hall syndrome +   
parietal foramina +   
Pfeiffer Mayer Syndrome 
Podder-Tolmie Syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
Polydactyly Myopia Syndrome 
Postaxial Polydactyly +   
Preaxial Polydactyly +   
Pseudotrisomy 13 Syndrome  
Sakoda Complex 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Split-Foot Malformation with Mesoaxial Polydactyly  
syndactyly type 4  
Syndactyly-Polydactyly-Earlobe Syndrome 
Synpolydactyly 2  
Synpolydactyly 3 
Synpolydactyly with Foot Anomalies 
Thai Symphalangism Syndrome 
Tibia Absent Polydactyly Arachnoid Cyst 
Urioste Martinez-Frias Syndrome 
Zechi-Ceide Syndrome 

Exact Synonyms: MKS4 ;   Meckel syndrome type 4 ;   Meckel-Gruber Syndrome, Type 4
Broad Synonyms: CEP290-related disorder
Primary IDs: MESH:C567003
Alternate IDs: OMIM:611134
Definition Sources: "DO"

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