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1132 Result(s)
- D+ HUS
- D,L-2-HGA
- D,L-2-hydroxyglutaric acidemia
- D,L-2-hydroxyglutaric aciduria
- D-2-HGA
- D-2-hydroxyglutaric acidemia
- D-2-hydroxyglutaric aciduria
- D-glycerate dehydrogenase deficiency
- D-glycerate kinase deficiency
- D-glyceric acidemia
- D-glyceric aciduria
- D-transposition of the great arteries
- Da Silva syndrome
- DA1
- DA10
- DA2B
- DA5D
- Dabska tumor
- Dacryocele
- Dacryocystocele
- DADA2
- Daentl-Townsend-Siegel syndrome
- Dahlberg syndrome
- Dahlberg-Borer-Newcomer syndrome
- Daish-Hardman-Lamont syndrome
- DALD
- Dancing eye syndrome
- Dancing eye-dancing feet syndrome
- Dandy-Walker malformation-postaxial polydactyly syndrome
- Daneman-Davy-Mancer syndrome
- Danon disease
- Darier disease
- Darier-Gottron disease
- Darier-White disease
- Darling disease
- DAVID syndrome
- Davies disease
- Dawson encephalitis
- DBH deficiency
- DBQD
- DBS/FOAR syndrome
- DC
- DCM
- DCMA syndrome
- DCMD
- DCS
- DD
- DD-I
- DD-II
- DDLS
- DDOD syndrome
- DDON syndrome
- DDOST-CDG
- DDX41-related hematologic malignancy predisposition syndrome
- De Barsy syndrome
- De Die-Smulders-Vles-Fryns syndrome
- De Grouchy syndrome type 1
- De Grouchy syndrome type 2
- De la Chapelle dysplasia
- De la Chapelle syndrome
- De Morsier syndrome
- De novo thrombotic microangiopathy after kidney transplantation
- De Smet-Fabry-Fryns syndrome
- De Vaal disease
- De Vivo disease
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Deafness-cataract-skeletal anomalies syndrome
- Deafness-craniofacial syndrome
- Deafness-dystonia-optic neuronopathy syndrome
- Deafness-ear malformation-facial palsy syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- Deafness-epiphyseal dysplasia-short stature syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Deafness-Hermann type symphalangism syndrome
- Deafness-hypogonadism syndrome
- Deafness-infertility syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Deafness-nephritis-ano-rectal malformation syndrome
- Deafness-oligodontia syndrome
- Deafness-onychodystrophy syndrome
- Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
- Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
- Deafness-onychoosteodystrophy-intellectual disability syndrome
- Deafness-pili torti-hypogonadism syndrome
- Deafness-skeletal dysplasia-coarse face with full lips syndrome
- Deafness-skeletal dysplasia-lip granuloma syndrome
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Deafness-vitiligo-achalasia syndrome
- DEB
- DEB pruriginosa
- DEB-Pr
- DEB-Pt
- DECF
- Deciduous skin
- DECR deficiency with hyperlysinemia
- Dedifferentiated liposarcoma
- dEDS
- DEE-SWAS
- Deep dermatophytosis
- Defect in COG complex
- Defect in conserved oligomeric Golgi complex
- Defect in V-ATPase
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- Deficiency in ELF4, X-linked
- Deficiency of adenosine deaminase 2
- Deficiency of IL-36R antagonist
- Deficiency of IL-36Ra
- Deficiency of malonyl-CoA decarboxylase
- Deficiency of plasma-membrane carnitine transporter
- Deficient breast volume or number
- Degos disease
- Degos genodermatosis "en cocardes"
- Dehydrated hereditary stomatocytosis
- Dejerine-Sottas syndrome
- Dekaban-Arima syndrome
- Del (5)(q35)
- Del (5)(qter)
- Del(1)(p21.3)
- Del(1)(p31p32)
- Del(1)(p35.2)
- Del(1)(p36)
- Del(1)(q21)
- Del(1)(q41q42)
- Del(1)(q44)
- Del(10)(p11.21p12.31)
- Del(10)(p13p14)
- Del(10)(p15.3)
- Del(10)(q22.3q23.3)
- Del(11)(p13)
- Del(11)(q22.2q22.3)
- Del(11)(q23.3)
- Del(11)(qter)
- Del(12)(p12.1)
- Del(12)(p13.33)
- Del(12)(q14)
- Del(12)(q15)(q21)
- Del(13)(q12.3)
- Del(13)(q14)
- Del(13)(q34)
- Del(14)(q11.2)
- Del(14)(q12)
- Del(14)(q22q23)
- Del(14)(q24.1q24.3)
- Del(15)(q11.2)
- Del(15)(q13.3)
- Del(15)(q14)
- Del(15)(q24)
- Del(16)(p11.2p12.2)
- Del(16)(p13.11)
- Del(16)(p13.2)
- Del(16)(q24.1)
- Del(16)(q24.3)
- Del(17)(q11)
- Del(17)(q12)
- Del(17)(q21.31)
- Del(17)(q23.1q23.2)
- Del(17)(q24)
- Del(19)(p13.12)
- Del(19)(p13.13)
- Del(19)(q13.11)
- Del(2)(p13.2)
- Del(2)(p15p16.1)
- Del(2)(p21)
- Del(2)(p21) without cystinuria
- Del(2)(q23.1)
- Del(2)(q24)
- Del(2)(q31.1)
- Del(2)(q32q33)
- Del(2)(q33.1)
- Del(2)(q37)
- Del(20)(p12.3)
- Del(20)(p13)
- Del(20)(q11.2)
- Del(20)(q13.33)
- Del(21)(q22.11q22.12)
- Del(21)(q22.13q22.2)
- Del(22)
- Del(3)(q13)
- Del(3)(q26q28)
- Del(3)(q29)
- Del(3)p(25.3)
- Del(4)(q21)
- Del(5)(q14.3)
- Del(5)(q31.3)
- Del(6)(p22)
- Del(6)(q16)
- Del(6)(q25.2q25.3)
- Del(7)(q31)
- Del(8)(p11.2)
- Del(8)(p23.1)
- Del(8)(q21.11)
- Del(8)(q24.3)
- Del(8)q(13)
- Del(9)(p13)
- Del(9)(q21.3)
- Del(9)(q31.1q31.3)
- Del(9)(q33.3q34.11)
- Del(X)(p21)
- Del(X)(p23)
- Del(X)(q21)
- del2q13 syndrome
- Delayed encephalopathy due to carbon monoxide poisoning
- Delayed encephalopathy due to CO poisoning
- Delayed membranous cranial ossification
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Deletion 10p11.21p12.31
- Deletion 10p13-p14
- Deletion 10p15.3
- Deletion 10q22.3q23.3
- Deletion 10qter
- Deletion 11p13
- Deletion 12q14
- Deletion 12q15q21
- Deletion 13q14
- Deletion 13q32
- Deletion 18q
- Deletion 1p35.2
- Deletion 1p36
- Deletion 1pter
- Deletion 22
- Deletion 2q37
- Deletion 5p
- Deletion 5q35 syndrome
- Deletion 7q11.23
- Deletion 8q21.11
- Deletion 8q24.3
- Deletion 9q33.3q34.11
- Delleman syndrome
- Delleman-Oorthuys syndrome
- Delpire-McNeill syndrome
- Delta granule disease
- Delta-1-pyrroline 5-carboxylate synthetase deficiency
- Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
- Delta-beta-thalassemia
- Delta-sarcoglycan-related LGMD R6
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- Delta-sarcoglycanopathy
- Dementia infantilis
- Dementia pugilistica
- Demodicidosis
- Demodicosis
- Demons-Meigs syndrome
- Demyelinating hereditary motor and sensory neuropathy
- Demyelinating HMSN
- Den Hoed-De Boer-Voisin syndrome
- DEND syndrome
- Dendritic cell sarcoma not otherwise specified
- Dendritic cell tumor
- Dengue fever
- Dengue virus infection
- Dennis-Fairhurst-Moore syndrome
- Dense deposit disease
- Dense granule disease
- Dent disease
- Dent disease type 1
- Dent disease type 2
- Dent syndrome
- Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
- Dental ankylosis
- Dentatorubral pallidoluysian atrophy
- Dentatorubropallidoluysian atrophy
- Dentin dysplasia
- Dentin dysplasia type 1 with microdontia and shape anomalies
- Dentin dysplasia type I
- Dentin dysplasia type II
- Dentin dysplasia-sclerotic bones syndrome
- Dentinogenesis imperfecta
- Dentinogenesis imperfecta type 2
- Dentinogenesis imperfecta type 3
- Dentinogenesis imperfecta without osteogenesis imperfecta
- Dentinogenesis imperfecta, Shields type 2
- Dentinogenesis imperfecta, Shields type 3
- Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Dentocutaneous disease with cataract
- Dentoleukoencephalopathy
- Denys-Drash syndrome
- Deoxyguanosine kinase deficiency
- Der Kaloustian-Jarudi-Khoury syndrome
- Der Kaloustian-McIntosh-Silver syndrome
- Der(22)t(11;22) syndrome
- Der(8)t(8;12)
- Dercum disease
- Dermal sinus tract
- Dermatitis herpetiformis
- Dermatofibrosarcoma protuberans
- Dermatoleukodystrophy
- Dermatomyositis
- Dermatomyositis sine dermatitis
- Dermatomyositis sine myositis
- Dermatoosteolysis, Kirghizian type
- Dermatopathia pigmentosa reticularis
- Dermatosparaxis EDS
- Dermatosparaxis Ehlers-Danlos syndrome
- Dermatostomatitis, Stevens Johnson type
- Dermis disorder
- Dermis elastic tissue disorder
- Dermochondrocorneal dystrophy
- Dermoid cyst of the face
- Dermoid cyst of the neck
- Dermoid or epidermoid cyst of the central nervous system
- Dermoid or epidermoid cyst of the CNS
- Dermolytic epidermolysis bullosa
- Dermoodontodysplasia
- Dermotrichic syndrome
- DES embryofetopathy
- DES syndrome
- Desanto-Shinawi syndrome
- Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
- Desanto-Shinawi syndrome due to WAC point mutation
- Desbuquois dysplasia
- Desbuquois syndrome
- DESC syndrome
- Desert fever
- Desert rheumatism
- Desmin-related myofibrillar myopathy
- Desmin-related myopathy with Mallory body-like inclusions
- Desminopathy
- Desmoid tumor
- Desmoid type fibromatosis
- Desmoplastic infantile astrocytoma/ganglioglioma
- Desmoplastic small round cell tumor
- Desmoplastic/nodular medulloblastoma
- Desmosterolosis
- Desquamative interstitial pneumonia
- DESSH
- Destombes-Rosaï-Dorfman disease
- DeToni-Debré-Fanconi syndrome
- Devastating epileptic encephalopathy in school-aged children
- Developmental and epileptic encephalopathy with spike-wave activation in sleep
- Developmental and speech delay due to SOX5 deficiency
- Developmental anomaly of metabolic origin
- Developmental defect of the eye
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- Developmental delay due to ALDH6A1 deficiency
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
- Developmental delay due to MMSDH deficiency
- Developmental delay with ASD and gait instability
- Developmental delay with autism spectrum disorder and gait instability
- Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
- Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome
- Developmental delay-epilepsy-neonatal diabetes syndrome
- Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Developmental delay-facial dysmorphism-hirsutism syndrome
- Developmental delay-hypotonia-extremities hypertrophy syndrome
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
- Developmental delay-short stature-dysmorphic features-sparse hair syndrome
- Developmental malformations-deafness-dystonia syndrome
- Developmental malformations-hearing loss-dystonia syndrome
- Devic disease
- Devriendt-Vandenberghe-Fryns syndrome
- DEX
- Dexamethasone-sensitive hypertension
- Dextro-transposition of the great arteries
- Dextrocardia
- DF
- DFSP
- DGI
- DGI without OI
- DGI-2
- DGSX
- DHFR deficiency
- dHMN
- dHMN with upper motor neuron signs
- dHMN1
- dHMN2
- dHMN3 and dHMN4
- dHMN5
- dHMN6
- dHMN7
- dHMNJ
- DHRD
- DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
- DHX30-related neurodevelopmental disorder
- DI
- di Sala syndrome
- DI-2
- DIA/DIG
- Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
- Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
- Diabetes of infancy
- Diabetes-hypogonadism-deafness-intellectual disability syndrome
- Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
- Diabetes-induced teratogenicity
- Diabetic embryopathy
- Dialysis-related amyloidosis
- Dialysis-related arthropathy
- Diamond-Blackfan anemia
- Diamond-Blackfan anemia syndrome
- Dianzani autoimmune lymphoproliferative disease
- DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- Diaphanospondylodysostosis
- Diaphorase deficiency
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome
- Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
- Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
- Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
- Diaphragmatic hernia-short bowel-asplenia syndrome
- Diaphragmatic or abdominal wall malformation
- Diaphragmatic spinal muscular atrophy
- Diaphragmatic spinal muscular atrophy type 2
- Diaphyseal dysplasia-anemia syndrome
- Diaphyseal medullary stenosis-bone malignancy syndrome
- Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
- Diarrheogenic islet cell tumor
- Dias-Logan syndrome
- Diastematomyelia
- Diastrophic dwarfism
- Diastrophic dysplasia
- Diazoxide-resistant diffuse hyperinsulinism
- Diazoxide-resistant focal hyperinsulinism
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
- Diazoxide-resistant hyperinsulinemic hypoglycemia
- Diazoxide-resistant hyperinsulinism
- Diazoxide-sensitive diffuse hyperinsulinism
- Dicarboxylic aminoaciduria
- DICER1 tumor-predisposition syndrome
- Didelphys uterus
- DIDMOAD syndrome
- DIDOD
- Didymosis aplasticosebacea
- Diencephalic cachexia
- Diencephalic syndrome
- Diencephalic syndrome of childhood
- Diencephalic syndrome of emaciation
- Diencephalic-mesencephalic junction dysplasia
- Dietary iron overload disease
- Diethylstilbestrol embryofetopathy
- Diethylstilbestrol syndrome
- Diets-Jongmans Syndrome
- Difference of sex development
- Difference of sex development of gynecological interest
- Difference of sex development-intellectual disability syndrome
- Differentiated thyroid carcinoma
- Diffuse alveolar hemorrhage
- Diffuse astrocytoma
- Diffuse cerebellar malformation
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Diffuse cutaneous maculopapulous mastocytosis
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous systemic scleroderma
- Diffuse cutaneous systemic sclerosis
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- Diffuse familial brain sclerosis
- Diffuse fasciitis with eosinophilia
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
- Diffuse intrinsic pontine glioma
- Diffuse keratosis palmoplantaris
- Diffuse large B-cell lymphoma
- Diffuse large B-cell lymphoma of the central nervous system
- Diffuse large B-cell lymphoma with chronic inflammation
- Diffuse leptomeningeal melanocytosis
- Diffuse lymphangioma
- Diffuse lymphangiomatosis
- Diffuse lymphatic malformation
- Diffuse malignant peritoneal mesothelioma
- Diffuse neonatal hemangiomatosis
- Diffuse nidus arteriovenous malformation
- Diffuse palmoplantar hyperkeratosis
- Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
- Diffuse palmoplantar keratoderma
- Diffuse palmoplantar keratoderma with painful fissures
- Diffuse palmoplantar keratoderma, Bothnia type
- Diffuse palmoplantar keratoderma, Bothnian type
- Diffuse palmoplantar keratoderma-acrocyanosis syndrome
- Diffuse panbronchiolitis
- Diffuse peritoneal leiomyomatosis
- Diffuse PPK
- Diffuse unilateral subacute neuroretinitis
- Diffuse-type GCT
- Diffuse-type giant cell tumor
- Diffused pleural mesothelioma
- Digenic Alport syndrome
- Digenic hemochromatosis
- DiGeorge sequence
- DiGeorge syndrome
- Digestive tract malformation
- Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
- Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
- Digital extensor muscle aplasia-polyneuropathy
- Digitalis poisoning
- Digitotalar dysmorphism
- Dihydrofolate reductase deficiency
- Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Dihydrolipoamide dehydrogenase deficiency
- Dihydrolipoyl dehydrogenase deficiency
- Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Dihydropteridine reductase deficiency
- Dihydropyrimidinase deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Dihydropyrimidinuria
- Dilatation of the left atrial appendage
- Dilatation of the left auricle
- Dilatation of the right atrial appendage
- Dilatation of the right atrial auricle
- Dilated cardiomyopathy
- Dilated cardiomyopathy with ataxia
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- DILE
- DiMauro disease
- Dimethylglycine dehydrogenase deficiency
- Dinno syndrome
- Dionisi-Vici-Sabetta-Gambarara syndrome
- DIPG
- Diphallia
- Diphtheria
- Diphyllobothriasis
- Diplomyelia
- Diprosopia
- Diprosopus
- Dipygus
- DIRA
- Dirofilariasis
- DIS
- Disaccharide intolerance
- Discoid lupus erythematosus
- Discordant ventriculoarterial and atrioventricular connections
- Discrete fibromuscular subaortic stenosis
- Discrete fixed membranous subaortic stenosis
- Discrete papular lichen myxedematosus
- Disease associated with non-acquired combined pituitary hormone deficiency
- Disease with diffuse palmoplantar hyperkeratosis as a major feature
- Disease with diffuse palmoplantar keratoderma as a major feature
- Disease with focal palmoplantar hyperkeratosis as a major feature
- Disease with focal palmoplantar keratoderma as a major feature
- Disease with punctate palmoplantar hyperkeratosis as a major feature
- Disease with punctate palmoplantar keratoderma as a major feature
- Disembarkment syndrome
- Dislocation of the hip-dysmorphism syndrome
- Disorder of amino acid absorption and transport
- Disorder of amino acid and other organic acid metabolism
- Disorder of asparagine metabolism
- Disorder of beta and omega amino acid metabolism
- Disorder of bile acid synthesis
- Disorder of bilirubin metabolism and excretion
- Disorder of biogenic amine metabolism and transport
- Disorder of branched-chain amino acid metabolism
- Disorder of carbohydrate absorption and transport
- Disorder of carbohydrate metabolism
- Disorder of carnitine cycle and carnitine transport
- Disorder of catecholamine synthesis
- Disorder of cobalamin metabolism and transport
- Disorder of copper metabolism
- Disorder of energy metabolism
- Disorder of fatty acid oxidation and ketogenesis
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of folate metabolism and transport
- Disorder of fructose metabolism
- Disorder of fucoglycosan synthesis
- Disorder of GABA metabolism
- Disorder of galactose metabolism
- Disorder of gamma-aminobutyric acid metabolism
- Disorder of glutamine metabolism
- Disorder of glycerol metabolism
- Disorder of glycolysis
- Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
- Disorder of glyoxylate metabolism
- Disorder of histidine metabolism
- Disorder of iron metabolism and transport
- Disorder of ketolysis
- Disorder of keton body transport
- Disorder of lipid absorption and transport
- Disorder of lipid metabolism
- Disorder of lysine and hydroxylysine metabolism
- Disorder of lysosomal amino acid transport
- Disorder of lysosomal-related organelles
- Disorder of magnesium transport
- Disorder of manganese transport
- Disorder of melanin metabolism
- Disorder of metabolite absorption and transport
- Disorder of methionine cycle and sulfur amino acid metabolism
- Disorder of mineral absorption and transport
- Disorder of multiple glycosylation
- Disorder of neurotransmitter metabolism and transport
- Disorder of neutral amino acid transport
- Disorder of O-mannosylglycan synthesis
- Disorder of O-N-acetylgalactosaminylglycan synthesis
- Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
- Disorder of O-xylosylglycan synthesis
- Disorder of ornithine metabolism
- Disorder of ornithine or proline metabolism
- Disorder of other vitamins and cofactors metabolism and transport
- Disorder of pentose phosphate metabolism
- Disorder of peptide metabolism
- Disorder of peroxisomal alpha-, beta- and omega-oxidation
- Disorder of phenylalanin or tyrosine metabolism
- Disorder of phenylalanine metabolism
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
- Disorder of plasmalogens biosynthesis
- Disorder of porphyrin and heme metabolism
- Disorder of proline metabolism
- Disorder of protein N-glycosylation
- Disorder of protein O-glycosylation
- Disorder of pterin metabolism
- Disorder of purine metabolism
- Disorder of purine or pyrimidine metabolism
- Disorder of pyridoxine metabolism
- Disorder of pyrimidine metabolism
- Disorder of serine or glycine metabolism
- Disorder of sex development
- Disorder of sex development of gynecological interest
- Disorder of sex development-intellectual disability syndrome
- Disorder of sialic acid metabolism
- Disorder of the gamma-glutamyl cycle
- Disorder of thiamine metabolism and transport
- Disorder of tryptophan metabolism
- Disorder of tyrosine metabolism
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of vitamin and non-protein cofactor absorption and transport
- Disorder of zinc metabolism and transport
- Disorder with multisystemic involvement and glomerulopathy
- Disorder with multisystemic involvement and primary lymphedema
- Disorder with optic nerve compression
- Disorders of pentose/polyol metabolism
- Disorders of vitamin D metabolism
- Dissecting cellulitis of the scalp
- Disseminated aseptic abscesses
- Disseminated candidiasis
- Disseminated granulomatous dermatophytosis
- Disseminated lupus erythematosus
- Disseminated lymphangioma
- Disseminated lymphangiomatosis
- Disseminated lymphatic malformation
- Disseminated peritoneal leiomyomatosis
- Disseminated superficial actinic porokeratosis
- Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome
- Distal 16p11.2 microdeletion syndrome
- Distal 17p13.1 microdeletion syndrome
- Distal 17p13.3 microdeletion syndrome
- Distal 22q11.2 microdeletion syndrome
- Distal 22q11.2 microduplication syndrome
- Distal 5q deletion
- Distal 7q11.23 microdeletion syndrome
- Distal 7q11.23 microduplication syndrome
- Distal ABD-filaminopathy
- Distal anoctaminopathy
- Distal anterior compartment myopathy
- Distal arthrogryposis
- Distal arthrogryposis multiplex congenita type 2B
- Distal arthrogryposis type 1
- Distal arthrogryposis type 10
- Distal arthrogryposis type 2A
- Distal arthrogryposis type 2B
- Distal arthrogryposis type 3
- Distal arthrogryposis type 4
- Distal arthrogryposis type 5
- Distal arthrogryposis type 5 without ophthalmoparesis
- Distal arthrogryposis type 5 without ophthalmoplegia
- Distal arthrogryposis type 5D
- Distal arthrogryposis type 6
- Distal arthrogryposis type 7
- Distal arthrogryposis type 8
- Distal arthrogryposis type 9
- Distal arthrogryposis type IIA
- Distal arthrogryposis type IIB
- Distal arthrogryposis type IID
- Distal arthrogryposis with ophthalmoplegia
- Distal arthrogryposis with peculiar facies and hydronephrosis
- Distal del(16)(p11.2)
- Distal del(17)(p13.1)
- Distal del(17)(p13.3 )
- Distal del(22)(q11.2)
- Distal del(7)(q11.23)
- Distal deletion 10p syndrome
- Distal deletion 10q syndrome
- Distal deletion 11q
- Distal deletion 12p syndrome
- Distal deletion 12q syndrome
- Distal deletion 13q syndrome
- Distal deletion 13q34
- Distal deletion 14q syndrome
- Distal deletion 15q syndrome
- Distal deletion 17q syndrome
- Distal deletion 19p syndrome
- Distal deletion 19p13.3
- Distal deletion 1q syndrome
- Distal deletion 3p syndrome
- Distal deletion 4p
- Distal deletion 4q syndrome
- Distal deletion 6p syndrome
- Distal deletion 6p25
- Distal deletion 7p syndrome
- Distal deletion 7q36
- Distal deletion 9p syndrome
- Distal dup(22)(q11.2)
- Distal dup(7)(q11.23)
- Distal dup(X)q(28)
- Distal duplication 10q syndrome
- Distal duplication 11q syndrome
- Distal duplication 13q syndrome
- Distal duplication 14q syndrome
- Distal duplication 15q syndrome
- Distal duplication 16p
- Distal duplication 16q syndrome
- Distal duplication 17q syndrome
- Distal duplication 18q syndrome
- Distal duplication 19q syndrome
- Distal duplication 1p36 syndrome
- Distal duplication 20q syndrome
- Distal duplication 22q syndrome
- Distal duplication 2p syndrome
- Distal duplication 2q syndrome
- Distal duplication 3p syndrome
- Distal duplication 4p
- Distal duplication 4q syndrome
- Distal duplication 5q syndrome
- Distal duplication 6p syndrome
- Distal duplication 6q syndrome
- Distal duplication 7p syndrome
- Distal duplication 8q syndrome
- Distal duplication 9q syndrome
- Distal hereditary motor neuropathy
- Distal hereditary motor neuropathy type 1
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 3 and type 4
- Distal hereditary motor neuropathy type 5
- Distal hereditary motor neuropathy type 6
- Distal hereditary motor neuropathy type 7
- Distal hereditary motor neuropathy type V
- Distal hereditary motor neuropathy with upper motor neuron signs
- Distal hereditary motor neuropathy, Jerash type
- Distal HMN V
- Distal limb deficiencies-micrognathia syndrome
- Distal monosomy 10p
- Distal monosomy 10q
- Distal monosomy 11q
- Distal monosomy 12p
- Distal monosomy 12q
- Distal monosomy 13q
- Distal monosomy 14q
- Distal monosomy 15q
- Distal monosomy 16p11.2
- Distal monosomy 17p13.3
- Distal monosomy 17q
- Distal monosomy 19p13.3
- Distal monosomy 1q
- Distal monosomy 22q11.2
- Distal monosomy 3p
- Distal monosomy 4p
- Distal monosomy 4q
- Distal monosomy 7p
- Distal monosomy 7q11.23
- Distal monosomy 7q36 syndrome
- Distal monosomy 9p
- Distal muscular dystrophy
- Distal myopathy
- Distal myopathy type 1
- Distal myopathy type 3
- Distal myopathy with anterior tibial onset
- Distal myopathy with posterior leg and anterior hand involvement
- Distal myopathy with rimmed vacuoles
- Distal myopathy with vocal cord weakness
- Distal myopathy, Nonaka type
- Distal myopathy, Tateyama type
- Distal myopathy, Udd type
- Distal myopathy, Welander type
- Distal myotilinopathy
- Distal nebulin myopathy
- Distal osteolysis-short stature-intellectual disability syndrome
- Distal renal tubular acidosis
- Distal renal tubular acidosis with anemia
- Distal spinal muscular atrophy
- Distal spinal muscular atrophy type 2
- Distal spinal muscular atrophy type 3
- Distal spinal muscular atrophy type 4
- Distal spinal muscular atrophy type 5
- Distal spinal muscular atrophy with vocal cord paralysis
- Distal tetrasomy 15q
- Distal titinopathy
- Distal triplication 15q syndrome
- Distal trisomy 10q
- Distal trisomy 11q
- Distal trisomy 13q
- Distal trisomy 15q
- Distal trisomy 16p
- Distal trisomy 16q
- Distal trisomy 17q
- Distal trisomy 18q
- Distal trisomy 19q
- Distal trisomy 1p36
- Distal trisomy 20q
- Distal trisomy 22q
- Distal trisomy 22q11.2
- Distal trisomy 2p
- Distal trisomy 2q
- Distal trisomy 3p
- Distal trisomy 4p
- Distal trisomy 4q
- Distal trisomy 5q
- Distal trisomy 6p
- Distal trisomy 6q
- Distal trisomy 7p
- Distal trisomy 7q11.23
- Distal trisomy 8q
- Distal trisomy 9q
- Distal trisomy Xq28
- Distal Xq28 microduplication syndrome
- Distal-HMN type 6
- Distilbene embryofetopathy
- Distomatosis
- Distomiasis
- DITRA
- Divided left atrium
- Divided right atrium
- DK phocomelia syndrome
- DK1-CDG
- DKC
- DLBCL
- DLBCL of the CNS
- DLBCL with chronic inflammation
- DLD deficiency
- DLM
- DMD
- DMG dehydrogenase deficiency
- DMGDH deficiency
- DMRV
- DNA ligase IV deficiency
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies
- DNA2-related mitochondrial DNA deletion syndrome
- DNAJB2-related Charcot-Marie-Tooth disease type 2
- DNAJB2-related CMT2
- DNAJB6-related LGMD D1
- DNAJB6-related limb-girdle muscular dystrophy D1
- DNET
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- DNMT3A-related microcephalic dwarfism
- DNMT3A-related overgrowth syndrome
- DOA
- DOA+
- Dobrin syndrome
- Dobrow syndrome
- DOCK8 immunodeficiency syndrome
- Dol-P-mannosyltransferase deficiency
- Dolichol kinase deficiency
- Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
- DOLV
- Dominant beta-thalassemia
- Dominant drusen
- Dominant hyaloideoretinal dystrophy of Wagner
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- Dominant KATP hyperinsulinism due to Kir6.2 deficiency
- Dominant radial drusen
- Donath-Landsteiner hemolytic anemia
- Donath-Landsteiner syndrome
- Donnai-Barrow syndrome
- Donohue syndrome
- DONSON-related microcephaly-short stature-limb abnormalities spectrum
- DOOR syndrome
- DOORS syndrome
- Doose syndrome
- Dopa-responsive dystonia
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Dopamine beta-hydroxylase deficiency
- Dopamine transporter deficiency syndrome
- Dorfman-Chanarin syndrome
- Dorsal spinal cord lipoma
- DORV
- DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy
- DORV with non-committed subpulmonary VSD
- DORV with subaortic or doubly committed VSD
- DORV with subaortic or doubly committed VSD with pulmonary stenosis
- DORV with subpulmonary VSD
- DORV, Fallot type
- DORV-TGA
- Double A syndrome
- Double discordance
- Double heterozygotes sickling disorder
- Double inlet atrioventricular connection
- Double nose
- Double outlet left ventricle
- Double outlet right ventricle
- Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
- Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
- Double outlet right ventricle with subpulmonary ventricular septal defect
- Double outlet right ventricle with transposition of the great arteries
- Double outlet right ventricle, Fallot type
- Double uterus and obstructed hemivagina syndrome
- Double uterus-hemivagina-renal agenesis syndrome
- Double Y syndrome
- Double-orifice mitral valve
- Dowling-Degos disease
- Down syndrome
- Doyne honeycomb retinal dystrophy
- DPAGT1-CDG
- DPG-plus syndrome
- DPL
- DPM1-CDG
- DPM2-CDG
- DPM3-CDG
- Dracunculiasis
- Dracunculosis
- Drash syndrome
- Dravet syndrome
- DRD due to SRD
- DRESS syndrome
- DRPLA
- DRS
- DRS with deafness
- DRS with hearing loss
- dRTA
- dRTA with anemia
- Drug or radiation exposure-related interstitial lung disease
- Drug rash with eosinophilia and systemic symptoms
- Drug reaction with eosinophilia and systemic symptoms
- Drug- or toxin-induced PAH
- Drug- or toxin-induced pulmonary arterial hypertension
- Drug-induced AIHA
- Drug-induced autoimmune hemolytic anemia
- Drug-induced localized lipodystrophy
- Drug-induced lupus erythematosus
- Drug-induced methemoglobinemia
- Drug-induced vasculitis
- Drug-related renal tubular dysgenesis
- Drummond syndrome
- DS-AMKL in children with Down syndrome
- DS-AMKL in children with trisomy 21
- DSD
- DSD
- DSD of gynecological interest
- dSMA
- dSMA1
- dSMA2
- dSMA3
- dSMA4
- dSMA5
- DSMAX
- DSRCT
- DST-related epidermolysis bullosa simplex
- DTDP1
- DTDP2
- DTDS
- Du Pan syndrome
- Duane retraction syndrome
- Duane retraction syndrome with congenital deafness
- Duane retraction syndrome with congenital hearing loss
- Duane syndrome
- Duane-radial ray syndrome
- Duane-radial ray syndrome due to a point mutation
- Duane-radial ray syndrome due to monosomy 20q13
- Dubin-Johnson syndrome
- Dubin-Sprinz disease
- Dubowitz syndrome
- Duchenne and Becker muscular dystrophy
- Duchenne muscular dystrophy
- Duct-centric pancreatitis
- Duhring-Brocq disease
- Dunbar syndrome
- Duncan disease
- Dunnigan syndrome
- Duodenal atresia
- Duodenal neuroendocrine tumor
- Dup(1)(q21.1)
- Dup(10)(q22.3q23.3)
- Dup(11)p(15.4)
- Dup(14)(q11.2)
- Dup(14)q(32)
- Dup(15)(q11q13)
- Dup(16)(p11.2p12.2)
- Dup(16)(p13.11)
- Dup(16)(p13.3)
- Dup(17)(p11.2p12)
- Dup(17)(p13.3)
- Dup(17)(q11.2)
- Dup(17)(q12)
- Dup(17)(q21.31)
- Dup(17p)
- Dup(19)(p13.3)
- Dup(2)(q23.1)
- Dup(20)(q11.2)
- Dup(20p)
- Dup(22)(q11)
- Dup(3)(q26)
- Dup(3q) syndrome
- Dup(5)(p13)
- Dup(5)(q35)
- Dup(7)(p22.1)
- Dup(7)(q11.23)
- Dup(7)(q36.3)
- Dup(8)(p23.1p23.1)
- Dup(8)(q12)
- Dup(X)(p11.22p11.23)
- Dup(X)(p22)
- Dup(X)(p22.13p22.2)
- Dup(X)(q12-q13.3)
- Dup(X)(q25)
- Dup(X)(q27.3q28)
- Dup7q11.23D
- Duplication 12p
- Duplication 18p
- Duplication 1q
- Duplication 22q11.2
- Duplication 4p
- Duplication 5p
- Duplication 8p
- Duplication 8q
- Duplication 8q/deletion 8p
- Duplication 9p
- Duplication of 20p
- Duplication of the esophagus
- Duplication of the pituitary gland
- Duplication of the pituitary gland-plus syndrome
- Duplication of the short arm of chromosome 18
- Duplication of the short arm of chromosome 4
- Duplication of the short arm of chromosome 5
- Duplication of the short arm of chromosome 9
- Duplication of urethra
- Duplication Xp22
- Duplication/inversion 15q11
- Dupuy syndrome
- Dural sinus malformation
- DURS
- DURS with deafness
- DURS with hearing loss
- DUSN
- Dusty cataract
- Dutch-Kentucky syndrome
- DWM with postaxial polydactyly
- Dyggve-Melchior-Clausen disease
- Dykes-Marks-Harper syndrome
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
- DYRK1A syndrome
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- DYRK1A-related intellectual disability syndrome due to a point mutation
- Dysbetalipoproteinemia
- Dyschromatosis symmetrica hereditaria
- Dyschromatosis universalis hereditaria
- Dysembryoplastic neuroepithelial tumor
- Dysencephalia splanchnocystica
- Dysequilibrium syndrome
- Dysferlin-related LGMD R2
- Dysferlin-related limb-girdle muscular dystrophy R2
- Dysferlinopathy
- Dysgerminoma of ovary
- Dysgerminomatous germ cell cancer of the ovary
- Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
- Dyskeratosis congenita
- Dyskeratosis congenita with bilateral exudative retinopathy
- Dysmorphism-cleft palate-loose skin syndrome
- Dysmorphism-conductive hearing loss-heart defect syndrome
- Dysmorphism-multiple structural anomalies syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Dysmorphism-short stature-deafness-disorder of sex development syndrome
- Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
- Dysmorphologic diseases with phakomatosis
- Dysosteosclerosis
- Dysostosis
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
- Dysostosis multiplex
- 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
- Dysostosis, Stanescu type
- Dysphagia lusoria
- Dysphasia
- Dysplasia epiphysealis capitis femoris
- Dysplasia epiphysealis hemimelica
- Dysplasia of head of femur, Meyer type
- Dysplastic cortical hyperostosis
- Dysplastic cortical hyperostosis, Al-Gazali type
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Dysplastic gangliocytoma of the cerebellum
- Dysprothrombinemia
- Dysraphic spinal cord lipoma
- Dysraphism with stalk
- Dysraphism-cleft lip/palate-limb reduction defects syndrome
- Dyssegmental dysplasia, Rolland-Desbuquois type
- Dyssegmental dysplasia, Silverman-Handmaker type
- Dysspondyloenchondromatosis
- Dystonia 12
- Dystonia 16
- Dystonia 18
- Dystonia 23
- Dystonia 24
- Dystonia 25
- Dystonia 28
- Dystonia 29
- Dystonia musculorum deformans
- Dystonia-aphonia syndrome
- Dystonia-parkinsonism, Paisan-Ruiz type
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Dystonia-plus syndrome
- Dystroglycanopathy
- Dystrophia Helsinglandica
- Dystrophia Smolandiensis
- Dystrophic epidermolysis bullosa
- Dystrophic epidermolysis bullosa pruriginosa
- Dystrophinopathy
- DYT12
- DYT13
- DYT16
- DYT18
- DYT2
- DYT21
- DYT23
- DYT24
- DYT25
- DYT28
- DYT29
- DYT3
- DYT4
- DYT5a
- DYT5b
- DYT6
- DYT9
- Dündar syndrome