Rare Disease Index

human disease

human disease

mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan

osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males

Human disease

neurocutaneous syndrome with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system. A triad of sebaceous nevi, seizures, and mental retardation

Rare congenital metabolic disorder in humans.

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies

human disease

rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater.

metaphyseal dysplasia that results in dwarfism and bowed legs

medical condition

Human disease

Human disease

Human disease

SchC6pf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2

autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36

Human disease

Human disease

corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea

rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs

Human disease

human disease

hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life

sclerosteosis that has material basis in homozygous mutation in the SOST gene on chromosome 17q21