Rare Disease Library

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Dubowitz syndrome

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

Duchenne muscular dystrophy

DMD · Duchenne

Duodenal atresia

Duodenal neuroendocrine tumor

Duplication of the esophagus

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

Duplication of urethra

Dural sinus malformation with arteriovenous shunt

Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

Dwarfism-tall vertebrae syndrome

Dyggve-Melchior-Clausen disease

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · Kugelberg-Welander disease

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

Dyschromatosis universalis hereditaria

Dysembryoplastic neuroepithelial tumor

DNET

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Dyskeratosis congenita

DC · DKC

Dysmorphism-cleft palate-loose skin syndrome

Dysmorphism-conductive hearing loss-heart defect syndrome

Dysmorphism-pectus carinatum-joint laxity syndrome

Guízar Vázquez-Sánchez-Manzano syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Dysosteosclerosis

Dysostosis

Dysostosis of genetic origin

Dysostosis of genetic origin with limb anomaly as a major feature

Dysostosis with brachydactyly

Dysostosis with brachydactyly with extraskeletal manifestations

Dysostosis with brachydactyly without extraskeletal manifestations

Dysostosis with combined reduction defects of upper and lower limbs

Dysostosis with limb and face anomalies as a major feature

Dysostosis with limb anomaly as a major feature

Dysostosis with predominant craniofacial involvement

Dysostosis with predominant vertebral and costal involvement

Dysphagia lusoria

Dysplasia epiphysealis hemimelica

Trevor disease

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

Dysplastic cortical hyperostosis

Dysplastic cortical hyperostosis, Al-Gazali type

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Kozlowski-Tsuruta syndrome

Dysraphic spinal cord lipoma

Dysraphism with stalk