brittle cornea syndrome
Human disease
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Summary
brittle cornea syndrome is a rare disease[1]. It is known by 10 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: Ehlers-Danlos syndrome[4], corneal disease[5], autosomal recessive disease[6]
- Anatomical location: cornea[7]
- Prevalence: 0.000001[8]
- NCI Thesaurus ID: C125700[9]
- Genetic association: ZNF469[10], PRDM5[11]
- Age of onset: infantile onset[12], neonatal onset[13]
- Exact match: http://purl.obolibrary.org/obo/DOID_14775[14], http://identifiers.org/doid/DOID:14775[15], http://www.orpha.net/ORDO/Orphanet_90354[16]
- On focus list of Wikimedia project: WikiProject Medicine[17]
- Has phenotype: Keratoglobus[18], corneal dystrophy[19], Q141816004[20], conductive hearing loss[21], sensorineural hearing loss[22], blue sclera[23], osteoporosis[24], gait abnormality[25], joint hypermobility[26], tooth abnormality[27], cleft palate[28], glaucoma[29], arachnodactyly[30], hip dysplasia[31]
- P14914: D90354[32]