List of Rare Diseases
D
D-2-HGA
D-2-hydroxyglutaric acidemia
D-2-hydroxyglutaric aciduria
DA1
DA10
DA1A
DA5D
Dabska tumor
Dacryocele
Dacryocystitis-osteopoikilosis syndrome
Dacryocystocele
Daentl-Townsend-Siegel syndrome
Dahlberg-Borer-Newcomer syndrome
Dahlberg syndrome
Daish-Hardman-Lamont syndrome
DALD
Dancing eye-dancing feet syndrome
Dancing eye syndrome
Dandy-Walker malformation-postaxial polydactyly syndrome
Daneman-Davy-Mancer syndrome
Danon disease
Darier disease
Darier-Gottron disease
Darier-White disease
Darling disease
Da Silva syndrome
DAVID syndrome
Davies disease
Dawson’s encephalitis
DBQD
DBS/FOAR syndrome
DC
DCM
DCMA syndrome
DCMD
DD
DDEB-gen
DDEB, generalized
DDEB, Pasini and Cockayne-Touraine types
DD-I
DD-II
DDLS
DDOD syndrome
DDON syndrome
DDOST-CDG
DDX41-related hematologic malignancy predisposition syndrome
Deaf blind hypopigmentation syndrome, Yemenite type
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-lymphedema-leukemia syndrome
Deafness-nephritis-ano-rectal malformation syndrome
Deafness-oligodontia syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy 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-thyroid hormone resistance syndrome
Deafness-vitiligo-achalasia syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
DEB
De Barsy syndrome
DEB-BDN
DEB, bullous dermolysis of the newborn
DEB-Pr
DEB, pruriginosa
DEB-Pt
Deciduous skin
DECR deficiency with hyperlysinemia
De Die-Smulders-Vles-Fryns syndrome
Dedifferentiated liposarcoma
dEDS
Deep dermatophytosis
Defect in COG complex
Defect in conserved oligomeric Golgi complex
Defect in V-ATPase
Defective adenosine triphosphate-binding cassette transporter A1
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Deficiency of IL-36Ra
Deficiency of IL-36R antagonist
Deficiency of plasma-membrane carnitine transporter
Deficient breast volume or number
Degner syndrome
Degos disease
Degos genodermatosis “en cocardes”
De Grouchy syndrome
Dehydrated hereditary stomatocytosis
Dejerine-Sottas syndrome
Dekaban-Arima syndrome
Del(10)(p11.21p12.31)
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)(q21.1)
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(1)(p21.3)
Del(1)(p31p32)
Del(1)(p35.2)
Del(1)(p36)
Del(1)(q21)
Del(1)(q41q42)
Del(1)(q44)
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(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)(q32)
Del(2)(q32q33)
Del(2)(q33.1)
Del(2)(q37)
Del(3)p(25.3)
Del(3)(q13)
Del(3)(q26q27)
Del(3)(q27.3)
Del(3)(q29)
Del(4)(q21)
Del(5)(q14.3)
Del(5)(q31.3)
Del (5)(q35)
Del (5)(qter)
Del(6)(p22)
Del(6)(q16)
Del(6)(q25)
Del(7)(q31)
Del(8)(p11.2)
Del(8)(p23.1)
Del(8)q(13)
Del(8)(q21.11)
Del(8)(q24.3)
Del(9)(p13)
Del(9)(q21.3)
Del(9)(q31.1q31.3)
Del(9)(q33.3q34.11)
De la Chapelle dysplasia
De la Chapelle 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 10q22.3q23.3
Deletion 11p13
Deletion 12q14
Deletion 12q15q21.1
Deletion 13q14
Deletion 13q32
Deletion 18q
Deletion 1p35.2
Deletion 1p36
Deletion 1pter
Deletion 22
Deletion 2q37
Deletion 5p
Deletion 5q35
Deletion 7q11.23
Deletion 8q21.11
Deletion 8q24.1
Deletion 8q24.3
Deletion 9q33.3q34.11
Delleman-Oorthuys syndrome
Delleman syndrome
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Delta-beta-thalassemia
Delta granule disease
Delta-sarcoglycanopathy
Del(X)(p21)
Del(X)(p23)
Del(X)(q21)
Dementia infantilis
Dementia pugilistica
Demodicidosis
Demodicosis
Demons-Meigs syndrome
De Morsier syndrome
Demyelinating hereditary motor and sensory neuropathy
Demyelinating HMSN
Dendritic cell, monocyte, B and NK lymphoid deficiency
Dendritic cell sarcoma not otherwise specified
Dendritic cell tumor
DEND syndrome
Dengue fever
Dengue virus infection
Dennis-Fairhurst-Moore syndrome
De novo thrombotic microangiopathy after kidney transplantation
Dense deposit disease
Dense granule disease
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
Dental ankylosis
Dentatorubral pallidoluysian atrophy
Dentatorubropallidoluysian atrophy
Dent disease
Dent disease type 1
Dent disease type 2
Dentin dysplasia
Dentin dysplasia-sclerotic bones syndrome
Dentin dysplasia type 1 with microdontia and shape anomalies
Dentin dysplasia type I
Dentin dysplasia type II
Dentinogenesis imperfecta
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta, Shields type 3
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Dentinogenesis imperfecta without osteogenesis imperfecta
Dentocutaneous disease with cataract
Dentoleukoencephalopathy
Dent syndrome
Denys-Drash syndrome
Deoxyguanosine kinase deficiency
Der(22)t(11;22) syndrome
Der(8)t(8;12)
Dercum disease
Der Kaloustian-Jarudi-Khoury syndrome
Der Kaloustian-McIntosh-Silver syndrome
Dermatitis herpetiformis
Dermatofibrosarcoma protuberans
Dermatoleukodystrophy
Dermatomyositis
Dermatoosteolysis, Kirghizian type
Dermatopathia pigmentosa reticularis
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
Desbuquois dysplasia
Desbuquois syndrome
DESC syndrome
DES embryofetopathy
Desert fever
Desert rheumatism
De Smet-Fabry-Fryns syndrome
Desminopathy
Desmin-related myofibrillar myopathy
Desmin-related myopathy with Mallory body-like inclusions
Desmoid tumor
Desmoid type fibromatosis
Desmoplastic infantile astrocytoma/ganglioglioma
Desmoplastic/nodular medulloblastoma
Desmoplastic small round cell tumor
Desmosterolosis
Desquamative interstitial pneumonia
DES syndrome
Destombes-Rosaï-Dorfman disease
De Vaal disease
Devastating epileptic encephalopathy in school-aged children
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-epilepsy-neonatal diabetes syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Developmental delay-hypotonia-extremities hypertrophy syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Developmental delay with ASD and gait instability
Developmental delay with autism spectrum disorder and gait instability
Developmental malformations-deafness-dystonia syndrome
Developmental verbal dyspraxia
Devic disease
De Vivo disease
Devriendt-Vandenberghe-Fryns syndrome
Dexamethasone-sensitive hypertension
Dextrocardia
DF
DFNX2
DFSP
DGI
DGI-2
DGI without OI
D-glycerate dehydrogenase deficiency
D-glycerate kinase deficiency
D-glyceric acidemia
D-glyceric aciduria
DGSX
DHFR deficiency
dHMN
dHMN1
dHMN2
dHMN3 and dHMN4
dHMN5
dHMN6
dHMN7
dHMNJ
dHMN with upper motor neuron signs
DHRD
D+ HUS
D- HUS with B factor anomaly
D- HUS with C3 anomaly
D- HUS with H factor anomaly
D- HUS with I factor anomaly
D- HUS with MCP/CD46 anomaly
D- HUS with thrombomodulin anomaly
DI
DI-2
Diabetes-hypogonadism-deafness-intellectual disability syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetic embryopathy
DIA/DIG
Dialysis-related amyloidosis
Dialysis-related arthropathy
Diamond-Blackfan anemia
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-abnormal face-distal limb anomalies syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness 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
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 syndrome
Didelphys uterus
DIDMOAD syndrome
Didymosis aplasticosebacea
Diencephalic cachexia
Diencephalic-mesencephalic junction dysplasia
Diencephalic syndrome
Diencephalic syndrome of childhood
Diencephalic syndrome of emaciation
Diethylstilbestrol embryofetopathy
Diethylstilbestrol syndrome
Differentiated thyroid carcinoma
Diffuse alveolar hemorrhage
Diffuse angiokeratoma
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 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 palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
Diffuse palmoplantar keratoderma
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Diffuse palmoplantar keratoderma, Bothnian type
Diffuse palmoplantar keratoderma with painful fissures
Diffuse panbronchiolitis
Diffuse peritoneal leiomyomatosis
Diffuse PPK
Diffuse-type GCT
Diffuse-type giant cell tumor
DiGeorge sequence
DiGeorge syndrome
Digestive duplication
Digestive duplication cyst of the tongue
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
Digits 2-5 hypodactyly, unilateral
Digits 2-5 oligodactyly, unilateral
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-hypergonadotropic hypogonadism syndrome
Dilated cardiomyopathy with ataxia
DILE
Dimethylglycine dehydrogenase deficiency
Dinno syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
DIPG
Diphallia
Diphtheria
Diphyllobothriasis
Diprosopia
Diprosopus
Dipygus
DIRA
Dirofilariasis
DIS
Disaccharide intolerance
Disaccharide intolerance with minimal starch tolerance
Disaccharide intolerance without starch intolerance
Disaccharide intolerance without sucrose intolerance
Disaccharide intolerance with starch and lactose intolerance
Disaccharide intolerance with starch intolerance
di Sala syndrome
Discoid lupus erythematosus
Discordant ventriculoarterial and atrioventricular connections
Discrete fibromuscular subaortic stenosis
Discrete fixed membranous subaortic stenosis
Discrete papular lichen myxedematosus
Disease-associated transverse myelitis
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 ornithine metabolism
Disorder of ornithine or proline metabolism
Disorder of other vitamins and cofactors metabolism and transport
Disorder of O-xylosylglycan synthesis
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Disorder of pentose phosphate metabolism
Disorder of peptide metabolism
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Disorder of phenylalanine metabolism
Disorder of phenylalanin or tyrosine 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-intellectual disability syndrome
Disorder of sex development of gynecological interest
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
Disorders of pentose/polyol metabolism
Disorders of vitamin D metabolism
Disorder with optic nerve compression
Dissecting cellulitis of the scalp
Disseminated aseptic abscesses
Disseminated dermatofibrosis with osteopoikilosis
Disseminated granulomatous dermatophytosis
Disseminated lupus erythematosus
Disseminated lymphangioma
Disseminated lymphangiomatosis
Disseminated lymphatic malformation
Disseminated nevus anelasticus
Disseminated peritoneal leiomyomatosis
Disseminated superficial actinic porokeratosis
Distal 10p deletion
Distal 13q deletion
Distal 15q deletion syndrome
Distal 16p11.2 microdeletion syndrome
Distal 17p13.1 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 17q deletion
Distal 22q11.2 microdeletion syndrome
Distal 22q11.2 microduplication syndrome
Distal 3p deletion
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 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 5D
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
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 10q
Distal deletion 11q
Distal deletion 12p
Distal deletion 12q
Distal deletion 13q34
Distal deletion 14q
Distal deletion 19p
Distal deletion 1q
Distal deletion 20q
Distal deletion 4p
Distal deletion 4q
Distal deletion 6p
Distal deletion 7p
Distal deletion 7q36
Distal deletion 9p
Distal dup(22)(q11.2)
Distal dup(7)(q11.23)
Distal duplication 10q
Distal duplication 11q
Distal duplication 13q
Distal duplication 14q
Distal duplication 15q
Distal duplication 16p
Distal duplication 16q
Distal duplication 17q
Distal duplication 18q
Distal duplication 19q
Distal duplication 1p36
Distal duplication 20q
Distal duplication 22q
Distal duplication 2p
Distal duplication 2q
Distal duplication 3p
Distal duplication 4p
Distal duplication 4q
Distal duplication 5q
Distal duplication 6p
Distal duplication 6q
Distal duplication 7p
Distal duplication 8q
Distal duplication 9q
Distal duplication Xq
Distal dup(X)q(28)
Distal hereditary motor neuropathy
Distal hereditary motor neuropathy, Jerash type
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-HMN type 6
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 20q
Distal monosomy 22q11.2
Distal monosomy 3p
Distal monosomy 4p
Distal monosomy 4q
Distal monosomy 6p
Distal monosomy 7p
Distal monosomy 7q11.23
Distal monosomy 7q36
Distal monosomy 9p
Distal muscular dystrophy
Distal myopathy
Distal myopathy, Nonaka type
Distal myopathy, Tateyama type
Distal myopathy type 1
Distal myopathy type 3
Distal myopathy, Udd type
Distal myopathy, Welander type
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 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 symphalangism
Distal tetrasomy 15q
Distal titinopathy
Distal trisomy 10q
Distal trisomy 11q
Distal trisomy 13q
Distal trisomy 14q
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
Distilbene embryofetopathy
Distomatosis
Distomiasis
DITRA
Divided left atrium
Divided right atrium
DK1-CDG
DKC
DK phocomelia syndrome
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric aciduria
DLBCL
DLBCL of the CNS
DLBCL with chronic inflammation
DLD deficiency
DLM
DM1
DMD
DMG dehydrogenase deficiency
DMGDH deficiency
DMRV
DNA2-related mitochondrial DNA deletion syndrome
DNAJB2-related Charcot-Marie-Tooth disease type 2
DNAJB2-related CMT2
DNA ligase IV deficiency
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
DNET
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
DNMT3A-related overgrowth syndrome
DOA+
DOA
Dobrin syndrome
Dobrow syndrome
DOCK2 deficiency
DOCK8 immunodeficiency syndrome
Dolichol kinase deficiency
Dolichospondylic dysplasia
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Dol-P-mannosyltransferase deficiency
DOLV
Dominant beta-thalassemia
Dominant drusen
Dominant dystrophic epidermolysis bullosa, nails only
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
DOORS syndrome
DOOR syndrome
Doose syndrome
Dopamine beta-hydroxylase deficiency
Dopa-responsive dystonia
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dorfman-Chanarin disease
DORV
DORV, Fallot type
DORV-TGA
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
Double A syndrome
Double discordance
Double heterozygotes sickling disorder
Double inlet left ventricle
Double nose
Double-orifice mitral valve
Double outlet left ventricle
Double outlet right ventricle
Double outlet right ventricle, Fallot type
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 tachycardia induced by catecholamines
Double uterus and obstructed hemivagina syndrome
Double uterus-hemivagina-renal agenesis syndrome
Double Y syndrome
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
Dream disease
DRESS syndrome
DRPLA
DRS
DRS with deafness
dRTA
dRTA with anemia
Drug-induced AIHA
Drug-induced autoimmune hemolytic anemia
Drug-induced localized lipodystrophy
Drug-induced lupus erythematosus
Drug-induced methemoglobinemia
Drug-induced vasculitis
Drug or radiation exposure-related interstitial lung disease
Drug- or toxin-induced PAH
Drug- or toxin-induced pulmonary arterial hypertension
Drug rash with eosinophilia and systemic symptoms
Drug reaction eosinophilic systemic syndrome
Drug-related renal tubular dysgenesis
Drummond syndrome
DS
DS-AMKL
DSD
DSD of gynecological interest
dSMA
dSMA1
dSMA2
dSMA3
dSMA4
dSMA5
DSMAX
DSRCT
DST-related epidermolysis bullosa simplex
DTDP1
DTDP2
Duane anomaly-myopathy-scoliosis syndrome
Duane-radial ray syndrome
Duane-radial ray syndrome due to a point mutation
Duane-radial ray syndrome due to monosomy 20q13
Duane retraction syndrome
Duane retraction syndrome with congenital deafness
Duane syndrome
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
Dündar syndrome
Dunnigan syndrome
Duodenal atresia
Duodenal neuroendocrine tumor
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(17p)
Dup(17)(p11.2p12)
Dup(17)(p13.3)
Dup(17)(q11.2)
Dup(17)(q12)
Dup(17)(q21.31)
Dup(19)(p13.13)
Dup(1)(q21.1)
Dup(20p)
Dup(20)(q11.2)
Dup(22)(q11)
Dup(2)(q23.1)
Dup(3)(q26)
dup(3q) syndrome
Dup(5)(p13)
Dup(5)(q35)
Dup(7)(p22.1)
Dup(7)(q11.23)
Dup7q11.23D
Dup(7)(q36.3)
Dup(8)(p23.1p23.1)
Dup(8)(q12)
Du Pan syndrome
Duplication 12p
Duplication 18p
Duplication 1q
Duplication 22q11.2
Duplication 4p
Duplication 5p
Duplication 8p
Duplication 8q
Duplication 8q/deletion 8p
Duplication 9p
Duplication/inversion 15q11
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
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)
Dural sinus malformation
DURS
DURS with deafness
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-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
Dyschondroplasia
Dyschondrosteosis-nephritis syndrome
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis hereditaria
Dysembryoplastic neuroepithelial tumor
Dysequilibrium syndrome
Dysferlinopathy
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-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, Stanescu type
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
Dysphasia
Dysplasia epiphysealis capitis femoris
Dysplasia epiphysealis hemimelica
Dysplasia of head of femur, Meyer type
Dysplastic cortical hyperostosis
Dysplastic gangliocytoma of the cerebellum
Dysprothrombinemia
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 29
Dystonia-aphonia syndrome
Dystonia musculorum deformans
Dystonia-parkinsonism-hypermanganesemia syndrome
Dystonia-parkinsonism, Paisan-Ruiz type
Dystonia-plus syndrome
Dystroglycanopathy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
Dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophie valvulaire associée à FLNA
Dystrophinopathy
DYT12
DYT13
DYT16
DYT18
DYT2
DYT21
DYT23
DYT24
DYT25
DYT29
DYT3
DYT4
DYT5a
DYT5b
DYT6
DYT9