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Disease Index

9,486 diseases

rare, X-linked recessive form of hereditary retinal degeneration

choroideremia-hypopituitarism syndrome

Christianson syndrome

rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures

chromoblastomycosis

long-term fungal infection of the skin and subcutaneous tissue

chromophobe renal cell carcinoma

renal cell carcinoma that has material basis in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells

chromosomal anomaly with cataract

chromosomal anomaly with epilepsy as a major feature

chromosomal disease with overgrowth

chromosome 10 anomaly

chromosome 10q23 deletion syndrome

chromosome 13q14 deletion syndrome

chromosome 14q11-q22 deletion syndrome

Chromosome 15q partial deletion

Chromosome 15q trisomy

chromosome 15q11-q13 duplication syndrome

genetic disorder

chromosome 15q13.3 microdeletion syndrome

chromosome 15q24 deletion syndrome

chromosome 15q26-qter deletion syndrome

chromosome 16p11.2 deletion syndrome

genetic disorder characterized by congenital minor physical anomalies and intellectual disability

chromosome 16p11.2 deletion syndrome, 220kb

chromosome 16p11.2 duplication syndrome

chromosome 16p12.2-p11.2 deletion syndrome

chromosome 16p13.3 duplication syndrome

chromosome 17p13.3 duplication syndrome

chromosome 17q12 deletion syndrome

rare human disease caused by partial deletion of the long arm of chromosome 17

chromosome 17q12 duplication syndrome

chromosome 17q21.31 duplication syndrome

chromosome 17q23.1-q23.2 deletion syndrome

chromosome 18p deletion syndrome

chromosome 18q deletion syndrome

Page 60 of 317 (9,486 total)

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