ABeta amyloidosis, Dutch type |
100006 |
Hereditary cerebral hemorrhage with… |
Orphanet, MeSH, MeSH, ICD-10, ICD-10, OMIM |
ABeta amyloidosis, Iowa type |
324708 |
A form of hereditary cerebral… |
Orphanet, OMIM, ICD-10, ICD-10 |
ABeta amyloidosis, Italian type |
324713 |
A form of hereditary cerebral… |
Orphanet, ICD-10, OMIM, ICD-10 |
ABetaA21G amyloidosis |
324718 |
A form of hereditary cerebral… |
Orphanet, OMIM, ICD-10, ICD-10 |
ABetaL34V amyloidosis |
324703 |
A form of hereditary cerebral… |
Orphanet, OMIM, ICD-10, ICD-10 |
Abetalipoproteinemia |
14 |
A severe, familial… |
Orphanet, MeSH, OMIM, ICD-10, OMIM, OMIM |
Ablepharon macrostomia syndrome |
920 |
An extremely rare multiple congenital… |
Orphanet, MeSH, ICD-10, OMIM |
ABri amyloidosis |
97345 |
A rare, neurodegenerative disease… |
Orphanet, MeSH, ICD-10, OMIM, ICD-10 |
Abruzzo-Erickson syndrome |
921 |
An orofacial clefting syndrome that is… |
Orphanet, MeSH, OMIM, ICD-10 |
Absence of fingerprints-congenital milia syndrome |
1658 |
A rare syndrome characterized by… |
Orphanet, ICD-10, OMIM |
Acatalasemia |
926 |
A rare inborn error of metabolism… |
Orphanet, OMIM, ICD-10 |
Aceruloplasminemia |
48818 |
A rare adult-onset disorder of… |
Orphanet, MeSH, ICD-10, OMIM |
Acetazolamide-responsive myotonia |
99736 |
A form of potassium-aggravated myotonia… |
Orphanet, ICD-10, OMIM |
Acheiropodia |
931 |
An extremely rare developmental… |
Orphanet, OMIM, MeSH, ICD-10 |
Achondrogenesis type 1B |
93298 |
A rare, lethal type of achondrogenesis… |
Orphanet, MeSH, OMIM, ICD-10 |
Achondrogenesis type 1A |
93299 |
A rare, lethal type of achondrogenesis… |
Orphanet, ICD-10, OMIM, MeSH |
Achondrogenesis type 2 |
93296 |
A rare, lethal type of achondrogenesis… |
Orphanet, MeSH, ICD-10, OMIM |
Achondroplasia |
15 |
A primary bone dysplasia with… |
Orphanet, OMIM, MedDRA, MeSH, ICD-10 |
Achromatopsia |
49382 |
A rare autosomal recessive retinal… |
Orphanet, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM |
Acquired idiopathic sideroblastic anemia |
75564 |
A rare myelodysplastic syndrome (MDS)… |
Orphanet, ICD-10 |