Diseases

Name Orphanumber Description XREF(s)
Granular corneal dystrophy type I 98962 Type I granular corneal dystrophy (GCDI… Orphanet, OMIM, ICD-10
Reis-Bücklers corneal dystrophy 98961 Reis-Bücklers corneal dystrophy (RBCD… Orphanet, MeSH, ICD-10, OMIM
Thiel-Behnke corneal dystrophy 98960 Thiel-Behnke corneal dystrophy (TBCD)… Orphanet, ICD-10, MeSH, OMIM
Gelatinous drop-like corneal dystrophy 98957 Gelatinous drop-like corneal dystrophy… Orphanet, MeSH, OMIM, ICD-10
Epithelial basement membrane dystrophy 98956 A rare corneal dystrophy characterized… Orphanet, ICD-10, OMIM
Meesmann corneal dystrophy 98954 Meesmann corneal dystrophy (MECD) is a… Orphanet, OMIM, MeSH, ICD-10, OMIM
Complete cryptophthalmia 98949 Orphanet, ICD-10, OMIM
Coloboma of optic disc 98947 Coloboma of optic disc is a rare,… Orphanet, ICD-10
Coloboma of eyelid 98946 A rare, genetic, developmental defect… Orphanet, ICD-10
Coloboma of macula 98945 Coloboma of macula is a rare, non-… Orphanet, ICD-10
Coloboma of iris 98944 A rare, genetic, developmental defect… Orphanet, OMIM, MedDRA, ICD-10
Coloboma of eye lens 98943 A rare, genetic, developmental defect… Orphanet, ICD-10
Coloboma of choroid and retina 98942 Coloboma of choroid and retina is a… Orphanet, ICD-10, OMIM
Colobomatous microphthalmia 98938 Colobomatous microphthalmia is a… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Huntington disease-like 2 98934 A rare severe neurodegenerative… Orphanet, OMIM, ICD-10
Multiple system atrophy, parkinsonian type 98933 Multiple system atrophy, parkinsonian… Orphanet, ICD-10
Spinal muscular atrophy with respiratory distress type 1 98920 Spinal muscular atrophy with… Orphanet, OMIM, ICD-10
Acute inflammatory demyelinating polyradiculoneuropathy 98916 A rare inflammatory neuropathy… Orphanet, ICD-10, OMIM
Synaptic congenital myasthenic syndromes 98915 Orphanet, ICD-10, OMIM
Presynaptic congenital myasthenic syndromes 98914 Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Download XLSX
Download PDF