Disease Index
9,486 diseasesdysferlinopathy
human disease
MeSH: C537995
Dysfibrinogenemia
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen
dyskeratosis congenita
rare progressive congenital disorder with a highly variable phenotype
MeSH: D019871
dysmorphism-cleft palate-loose skin syndrome
dysmorphism-conductive hearing loss-heart defect syndrome
dysmorphism-pectus carinatum-joint laxity syndrome
medical condition
dysmorphism-short stature-deafness-disorder of sex development syndrome
Dysosteosclerosis
Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly
ICD: Q78.8MeSH: C562973
dysostosis
bone development disease that results in defective ossification of located in bone
MeSH: D004413
dysostosis of genetic origin
instance of dysostosis that is caused by a modification of the individual's genome
dysostosis of genetic origin with limb anomaly as a major feature
human disease
dysostosis with combined reduction defects of upper and lower limbs
human disease
dysostosis with limb and face anomalies as a major feature
human disease
dysostosis with limb anomaly as a major feature
human disease
dysostosis with predominant craniofacial involvement
human disease
dysostosis with predominant vertebral and costal involvement
human disease
dysostosis, Stanescu type
Stanescu type dysostosis is a rare form of osteosclerosis
MeSH: C562974
Dysphagia lusoria
abnormal condition characterized by difficulty in swallowing caused by aberrant right subclavian artery
ICD: R13.19
dysplastic cortical hyperostosis
human disease
dysplastic nevus
human disease
ICD: D48.5
dysraphism-cleft lip/palate-limb reduction defects syndrome
human disease
dyssegmental dysplasia-glaucoma syndrome
This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.
MeSH: C563290
dyssegmental dysplasia, Rolland-Desbuquois type
human disease
MeSH: C537999
dysspondyloenchondromatosis
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry
dystonia
human disease
ICD: G24.924.9MeSH: D004421
dystonia 12
human disease
dystonia 16
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism
MeSH: C567430
dystonia 21
dystonia characterized by autosomal dominant inheritance of late onset pure torsion dystonia that has material basis in variation in the chromosome region 2q14.3-q21.3
dystonia 23
focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has material basis in heterozygous mutation in the CACNA1B gene on chromosome 9q34
dystonia 24
focal dystonia characterized by autosomal dominant inheritance of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs that has material basis in heterozygous mutation in the ANO3 gene on chromosome 11p14