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Ontology Browser

Brittle Cornea Syndrome 1 (DOID:9000309)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Joint Instability +     
Achard syndrome 
arterial tortuosity syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Brittle Cornea Syndrome 1  
Brittle Cornea Syndrome 2  
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Cutaneous Hemangiomatosis with Associated Features 
Daish Hardman Lamont Syndrome 
De Hauwere syndrome 
Desbuquois dysplasia +   
Hypospadias-Mental Retardation Syndrome 
Jaffer Beighton Syndrome 
Joint Laxity, Familial 
Megarbane Syndrome 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Panic Disorder with Joint Laxity 
Patella, Familial Recurrent Dislocation Of 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
Van Maldergem syndrome +   

Exact Synonyms: BCS1 ;   CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY ;   Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ;   Dysgenesis Mesodermalis Corneae et Sclerae ;   EDS6B ;   Ehlers-Danlos Syndrome, Type VIB ;   Ehlers-Danlos syndrome 6B ;   Fragilitas oculi with joint hyperextensibility
Primary IDs: MESH:C536192
Alternate IDs: OMIM:229200 ;   RDO:0001672

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