Rare Disease Library

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Distomatosis

Distomiasis · Fluke infection

DITRA

Deficiency of IL-36R antagonist · Deficiency of IL-36Ra

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

DNAJB2-related Charcot-Marie-Tooth disease type 2

DNAJB2-related CMT2

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Donohue syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Dopa-responsive dystonia

HPD with diurnal fluctuation · Hereditary progressive dystonia with diurnal fluctuation

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Dopamine beta-hydroxylase deficiency

DBH deficiency

Dorsal spinal cord lipoma

Conus sparing spinal cord lipoma

Double outlet left ventricle

DOLV

Double outlet right ventricle

DORV

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Double outlet right ventricle with doubly committed ventricular septal defect

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

DORV with non-committed subpulmonary VSD

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

DORV with subaortic or doubly committed VSD

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

DORV with subaortic or doubly committed VSD with pulmonary stenosis · DORV, Fallot type

Double outlet right ventricle with subaortic ventricular septal defect

Double outlet right ventricle with subpulmonary ventricular septal defect

DORV with subpulmonary VSD · DORV-TGA

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Double-orifice mitral valve

Dowling-Degos disease

Reticular pigment anomaly of flexures

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Dracunculiasis

Dracunculosis · Guinea worm disease

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

Drug or radiation exposure-related interstitial lung disease

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

Drug-induced autoimmune hemolytic anemia

Drug-induced AIHA

Drug-induced localized lipodystrophy

Lipoatrophy caused by injected drug

Drug-induced lupus erythematosus

DILE

Drug-induced vasculitis

Drug-related renal tubular dysgenesis

Duane anomaly-myopathy-scoliosis syndrome

Verloes-Deprez syndrome

Duane retraction syndrome

DRS · DURS