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Rare Disease Database

Search Results for: D

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Dandy Walker Malformation

Also known as: Dandy-Walker Cyst, Dandy-Walker Deformity, Dandy-Walker Syndrome, DWM, Hydrocephalus, Internal, Dandy-Walker Type, Hydrocephalus, Noncommunicating, Dandy-Walker Type, Luschka-Magendie Foramina Atresia

Danon Disease

Also known as: Antopol disease, glycogen storage cardiomyopathy, glycogen storage disease type IIB, GSD IIB, lysosomal glycogen storage disease without acid maltase deficiency, pseudoglycogenosis II, vacuolar cardiomyopathy and myopathy, X-linked

De Barsy Syndrome

Also known as: autosomal recessive cutis laxa type 3 (ARCL3), corneal clouding-cutis laxa-intellectual disability, DBS, De Barsy-Moens-Dierckx syndrome, progeroid syndrome of De Barsy
Subdivisions: autosomal recessive cutis laxa type 3 (ARCL3A), autosomal recessive cutis laxa type 3 (ARCL3B)

Degos Disease

Also known as: Degos-Kohlmeier disease, Degos syndrome, Kohlmeier-Degos disease, malignant atrophic papulosis, MAP, papulosis atrophicans maligna

Dejerine-Sottas Syndrome

Also known as: hereditary motor sensory neuropathy type III, HSMN type III, Charcot-Marie-Tooth disease, type 3 , CMT3, DSS, hypertrophic neuropathy of Dejerine-Sottas

Dengue Fever

Also known as: dengue, dengue virus, breakbone fever, dandy fever

Dent Disease

Subdivisions: Dent disease type 1, Dent disease type 2

Dentin Dysplasia Type I

Also known as: Dentin Dysplasia, Radicular, Opalescent Dentin, Pulpless Teeth, Radicular Dentin Dysplasia, Rootless Teeth, Thistle Tube Teeth

Denys-Drash Syndrome

Also known as: DDS, Drash syndrome, nephropathy and disorders of sexual development, Wilms tumor, pseudo or true hermaphroditism

Dercum’s Disease

Also known as: adiposis dolorosa, fatty tissue rheumatism, juxta-articular adiposis dolorosa, lipomatosis dolorosa , morbus Dercum's

Dermatitis Herpetiformis

Also known as: Duhring-Brocq disease, Brocq-Duhring disease, Duhring disease, dermatitis multiformis, DH


Also known as: ADM, childhood dermatomyositis, idiopathic inflammatory myopathy, IIM, polymyositis
Subdivisions: adult dermatomyositis, dermatomyositis sine myositis, juvenile (childhood) dermatomyositis (JDMS)

Desmoid Tumor

Also known as: aggressive fibromatosis, deep fibromatosis, musculoaponeurotic fibromatosis, nonmetastasizing fibrosarcoma

Diamond Blackfan Anemia

Also known as: Aase-Smith II Syndrome, Aase Syndrome, anemia, congenital erythroid hypoplastic , anemia, congenital pure red cell, aplasia, congenital pure red cell, congenital hypoplastic anemia, congenital PRCA, Blackfan-Diamond anemia, erythrogenesis imperfecta, hypoplastic congenital anemia, inherited erythroblastopenia, DBA

Diencephalic Syndrome

Also known as: diencephalic syndrome of childhood, diencephalic syndrome of emaciation, paramedian diencephalic syndrome, Russell's diencephalic cachexia, Russell's syndrome

Distal Myopathy

Also known as: Distal Muscular Dystrophy
Subdivisions: Distal Myopathy 3 (MPD3), Distal Myopathy with Rimmed Vacuoles (DMRV), Distal Myopathy with Vocal Cord and Pharyngeal Signs, Inclusion Body Myopathy Type 2 (IBM2), Laing Distal Myopathy, Laing Early-Onset Distal Myopathy, Miyoshi Myopathy, Nonaka Myopathy, Tibial Distal Myopathy, Udd Distal Myopathy, Welander Distal Myopathy

Dominant Multiple Epiphyseal Dysplasia

Also known as: MED, AD-MED, Autosomal Dominant Multiple Epiphyseal Dysplasia, dMED
Subdivisions: Multiple Epiphyseal Dysplasia Type 1 (EDM1), Multiple Epiphyseal Dysplasia Type 2 (EDM2), Multiple Epiphyseal Dysplasia Type 3 (EDM3), Multiple Epiphyseal Dysplasia Type 5 (EDM5), Multiple Epiphyseal Dysplasia Type 6 (EDM6)

DOOR Syndrome

Also known as: deafness, onychodystrophy, osteodystrophy, and mental retardation, DOOR(S) syndrome
Subdivisions: No subdivisions found


Also known as: Dracontiasis, Dracunculiasis, Fiery Serpent Infection, Guinea Worm Infection

Dravet Syndrome

Also known as: DS, severe myoclonic epilepsy of infancy (SMEI), severe myoclonic epilepsy of infancy – borderline (SMEI-B), epilepsy with polymorphic seizures, polymorphic epilepsy of infancy (PMEI)

Duane syndrome

Also known as: DR syndrome, Duane radial ray syndrome (DRRS), Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, Stilling-Turk-Duane syndrome
Subdivisions: Duane syndrome type 2A, 2B, 2C, Duane syndrome type 3A, 3B, 3C, Duane syndrome type IA, 1B, 1C

Dubin Johnson Syndrome

Also known as: chronic idiopathic jaundice, conjugated hyperbilirubinemia, DJS, hyperbilirubinemia II, black liver-jaundice syndrome , Dubin-Sprinz syndrome

Dubowitz Syndrome

Also known as: Intrauterine Dwarfism, dwarfism-eczema-peculiar facies syndrome

Dup15q Syndrome

Also known as: 15q11.2-q13.1 duplication syndrome, dup15q syndrome, inverted duplication 15 (inv dup15), partial trisomy 15, isodicentric chromosome 15 syndrome [Idic(15)], interstitial duplication chromosome 15 [Int dup(15)], supernumerary marker chromosome 15 (SMC15), partial tetrasomy 15q, interstitial triplication 15 [Int trp(15)]

Dysautonomia, Familial

Also known as: FD, Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III), Hereditary Sensory Neuropathy Type III, HSAN-III, HSN-III, Riley-Day Syndrome

Dyskeratosis Congenita

Also known as: DC, DKC, dysfunctional telomere maintenance, dyskeratosis congenita syndrome, short telomere disease
Subdivisions: dyskeratosis congenita, autosomal dominant, Scoggins type, dyskeratosis congenita, autosomal recessive, dyskeratosis congenita, X-linked, Zinsser-Cole-Engleman syndrome, Hoyeraal-Hreidarsson syndrome, Revesz syndrome


Also known as: torsion dystonia
Subdivisions: focal dystonia, blepharospasm (benign essential blepharospasm, cervical cystonia (spasmodic torticollis, oromandibular dystonia, task-specific or occupational dystonia (writer cramp, musician dystonia, embouchure dystonia), spasmodic dysphonia, generalized dystonia, segmental dystonia, DYT1-reated dystonia, DYT6-related dystonia, DYT28-related dystonia, dopa-responsive dystonia, myoclonic dystonia, X-linked dystonia-Parkinsonism, rapid-onset dystonia-Parkinsonism, paroxysmal dystonia choreoathetosis, paroxysmal kinesigenic dystonia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, primary dystonia, acquired dystonia, tardive dyskinesia, tardive dystonia, cramp