D
466 rare conditions. 81 with a recruiting study in our latest snapshot.
D-2-hydroxyglutaric aciduria1 recruitingMetabolicView →
D-glyceric aciduriaMetabolicView →
D,L-2-hydroxyglutaric aciduriaMetabolicView →
Dahlberg-Borer-Newcomer syndromeView →
Dandy-Walker malformation-facial hemangioma syndromeView →
Dandy-Walker malformation-postaxial polydactyly syndromeView →
Danon disease4 recruitingView →
Dappled diaphyseal dysplasiaView →
Darier Disease1 recruitingDermatologicalView →
DDOST-CDGView →
DDX41-related hematologic malignancy predisposition syndrome1 recruitingView →
De Barsy syndromeView →
De Hauwere syndromeView →
De Sanctis-Cacchione syndromeView →
Deaf blind hypopigmentation syndrome, Yemenite typeView →
Deafness with labyrinthine aplasia, microtia, and microdontiaView →
Deafness-craniofacial syndrome1 recruitingView →
Deafness-ear malformation-facial palsy syndromeView →
Deafness-enamel hypoplasia-nail defects syndromeView →
Deafness-encephaloneuropathy-obesity-valvulopathy syndromeView →
Deafness-epiphyseal dysplasia-short stature syndromeView →
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndromeView →
Deafness-hypogonadism syndrome2 recruitingView →
Deafness-infertility syndromeView →
Deafness-intellectual disability syndrome, Martin-Probst typeView →
Deafness-lymphedema-leukemia syndrome1 recruitingBloodView →
Deafness-oligodontia syndromeView →
Deafness-opticoacoustic nerve atrophy-dementia syndromeView →
Deafness-small bowel diverticulosis-neuropathy syndromeView →
Deafness-vitiligo-achalasia syndromeView →
Dedifferentiated liposarcoma13 recruitingOncologyView →
Deep dermatophytosisView →
Defect in conserved oligomeric Golgi complexGroupView →
Defect in V-ATPaseGroupView →
Deficiency in anterior pituitary function-variable immunodeficiency syndromeImmuneView →
Deficiency of adenosine deaminase 21 recruitingView →
Deficient breast volume or numberGroupView →
Dehydrated hereditary stomatocytosis1 recruitingView →
Dejerine-Sottas syndrome130 recruitingView →
Delayed encephalopathy due to carbon monoxide poisoningNeurologicalView →
Delayed membranous cranial ossificationView →
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndromeView →
Deletion 5q35 syndrome1 recruitingView →
Delta-beta-thalassemiaBloodView →
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6NeuromuscularView →
Dementia pugilisticaView →
DemodicidosisView →
DEND syndromeView →
Dendritic cell sarcoma not otherwise specified34 recruitingOncologyView →
Dendritic cell tumorGroupView →
Dengue fever26 recruitingView →
Dense deposit disease4 recruitingView →
Dense granule diseaseGroupView →
Dent Disease6 recruitingRenalView →
Dent disease type 14 recruitingView →
Dent disease type 24 recruitingView →
Dental ankylosisView →
Dentatorubral pallidoluysian atrophy1 recruitingView →
Dentin dysplasiaView →
Dentin dysplasia type IView →
Dentin dysplasia type IIView →
Dentin dysplasia-sclerotic bones syndromeView →
Dentinogenesis imperfectaView →
Dentinogenesis imperfecta type 2View →
Dentinogenesis imperfecta type 3View →
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndromeView →
Dentocutaneous disease with cataractGroupView →
Denys-Drash syndrome2 recruitingView →
Dermatitis herpetiformis1 recruitingView →
Dermato-cardio-skeletal syndrome, Borrone typeView →
Dermatofibrosarcoma protuberans6 recruitingOncologyView →
DermatoleukodystrophyNeurologicalView →
Dermatomyositis48 recruitingView →
Dermatoosteolysis, Kirghizian typeView →
Dermatopathia pigmentosa reticularisView →
Dermatosparaxis Ehlers-Danlos syndromeConnective TissueView →
Dermis disorderGroupView →
Dermis elastic tissue disorderGroupView →
Dermochondrocorneal dystrophyOphthalmologicalView →
Dermoid or epidermoid cyst of the central nervous systemView →
DermoodontodysplasiaView →
Dermotrichic syndromeView →
Desbuquois syndromeView →
Desmin-related myopathy with Mallory body-like inclusionsNeuromuscularView →
DesminopathyView →
Desmoid Tumor19 recruitingOncologyView →
Desmoplastic infantile astrocytoma/ganglioglioma1 recruitingOncologyView →
Desmoplastic small round cell tumor13 recruitingView →
Desmoplastic/nodular medulloblastomaOncologyView →
Desmosterolosis1 recruitingView →
Desquamative interstitial pneumoniaView →
Developmental and epileptic encephalopathy with spike-wave activation in sleep1 recruitingNeurologicalView →
Developmental and speech delay due to SOX5 deficiencyView →
Developmental anomaly of metabolic originGroupView →
Developmental defect of the eyeGroupView →
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiencyView →
Developmental delay with autism spectrum disorder and gait instabilityView →
Developmental delay-ataxia-hypotonia-facial dysmorphism syndromeNeurologicalView →
Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyView →
Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndromeView →
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndromeNeurologicalView →
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndromeNeurologicalView →
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionNeurologicalView →
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutationNeurologicalView →
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndromeView →
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutationView →
Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndromeView →
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndromeView →
Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndromeView →
Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndromeView →
Developmental malformations-deafness-dystonia syndromeView →
Dextrocardia5 recruitingView →
Diabetic embryopathyView →
Diamond-Blackfan Anemia11 recruitingBloodView →
Dianzani autoimmune lymphoproliferative diseaseImmuneView →
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeBloodView →
DiaphanospondylodysostosisConnective TissueView →
Diaphragmatic defect-limb deficiency-skull defect syndromeView →
Diaphragmatic hernia-short bowel-asplenia syndromeView →
Diaphragmatic or abdominal wall malformationGroupView →
Diaphyseal medullary stenosis-bone malignancy syndromeView →
Diastrophic DysplasiaConnective TissueView →
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiencyView →
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiencyView →
Dicarboxylic aminoaciduriaMetabolicView →
DICER1 tumor-predisposition syndrome2 recruitingView →
Didelphys uterusView →
Didymosis aplasticosebaceaBloodView →
Diencephalic syndrome2 recruitingView →
Diencephalic-mesencephalic junction dysplasiaView →
Dietary iron overload disease5 recruitingView →
Diethylstilbestrol syndrome7 recruitingView →
Difference of sex developmentGroupView →
Difference of sex development of gynecological interestGroupView →
Difference of sex development-intellectual disability syndromeView →
Differentiated thyroid carcinoma37 recruitingEndocrineView →
Diffuse alveolar hemorrhage2 recruitingRespiratoryView →
Diffuse astrocytoma22 recruitingView →
Diffuse capillary malformation with overgrowthView →
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndromeNeurologicalView →
Diffuse cutaneous mastocytosis2 recruitingView →
Diffuse cutaneous systemic sclerosis17 recruitingView →
Diffuse hemispheric glioma-H3 G34-mutant5 recruitingOncologyView →
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasiaRespiratoryView →
Diffuse intrinsic pontine glioma34 recruitingOncologyView →
Diffuse large B-cell lymphoma of the central nervous system4 recruitingBloodView →
Diffuse large B-cell lymphoma with chronic inflammation2 recruitingBloodView →
Diffuse leptomeningeal melanocytosisView →
Diffuse lymphatic malformation7 recruitingView →
Diffuse palmoplantar keratodermaDermatologicalGroupView →
Diffuse palmoplantar keratoderma with painful fissuresDermatologicalView →
Diffuse palmoplantar keratoderma-acrocyanosis syndromeDermatologicalView →
Diffuse palmoplantar keratoderma, Bothnian typeDermatologicalView →
Diffuse panbronchiolitisRespiratoryView →
Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype1 recruitingOncologyView →
Diffuse unilateral subacute neuroretinitisOphthalmologicalView →
Diffused pleural mesotheliomaRespiratoryView →
Digenic Alport syndromeView →
Digenic hemochromatosisView →
Digestive tract malformationGroupView →
Digital anomalies-intellectual disability-short stature syndromeView →
Digital extensor muscle aplasia-polyneuropathyView →
Digitorenocerebral syndromeView →
Dihydropteridine reductase deficiencyView →
Dihydropyrimidine dehydrogenase deficiency3 recruitingView →
Dihydropyrimidinuria1 recruitingView →
Dilated Cardiomyopathy57 recruitingCardiovascularView →
Dilated cardiomyopathy with ataxia1 recruitingNeurologicalView →
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome3 recruitingNeuromuscularView →
Dimethylglycine dehydrogenase deficiency1 recruitingView →
Dincsoy-Salih-Patel syndromeView →
DiphalliaView →
Diphtheria9 recruitingView →
DiphyllobothriasisView →
DiprosopusView →
DirofilariasisView →
Discoid lupus erythematosus5 recruitingView →
Discrete fibromuscular subaortic stenosisView →
Discrete fixed membranous subaortic stenosisView →
Discrete papular lichen myxedematosusView →
Disease associated with non-acquired combined pituitary hormone deficiencyEndocrineGroupView →
Disease with diffuse palmoplantar keratoderma as a major featureDermatologicalGroupView →
Disease with focal palmoplantar keratoderma as a major featureDermatologicalGroupView →
Disease with punctate palmoplantar keratoderma as a major featureDermatologicalGroupView →
Dislocation of the hip-dysmorphism syndromeView →
Disorder of amino acid absorption and transportGroupView →
Disorder of amino acid and other organic acid metabolismMetabolicGroupView →
Disorder of asparagine metabolismGroupView →
Disorder of beta and omega amino acid metabolismGroupView →
Disorder of bile acid synthesisGroupView →
Disorder of bilirubin metabolism and excretionGroupView →
Disorder of biogenic amine metabolism and transportGroupView →
Disorder of branched-chain amino acid metabolismGroupView →
Disorder of carbohydrate absorption and transportGroupView →
Disorder of carbohydrate metabolismGroupView →
Disorder of carnitine cycle and carnitine transportGroupView →
Disorder of catecholamine synthesisGroupView →
Disorder of cobalamin metabolism and transportGroupView →
Disorder of copper metabolismGroupView →
Disorder of energy metabolismGroupView →
Disorder of fatty acid oxidation and ketogenesisGroupView →
Disorder of fatty acid oxidation and ketone body metabolismGroupView →
Disorder of folate metabolism and transportGroupView →
Disorder of fructose metabolismGroupView →
Disorder of fucoglycosan synthesisGroupView →
Disorder of galactose metabolismGroupView →
Disorder of gamma-aminobutyric acid metabolismGroupView →
Disorder of glutamine metabolismGroupView →
Disorder of glycerol metabolismGroupView →
Disorder of glycolysisGroupView →
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationGroupView →
Disorder of glyoxylate metabolismGroupView →
Disorder of histidine metabolismGroupView →
Disorder of iron metabolism and transportGroupView →
Disorder of ketolysisGroupView →
Disorder of keton body transportGroupView →
Disorder of lipid absorption and transportGroupView →
Disorder of lipid metabolismGroupView →
Disorder of lysine and hydroxylysine metabolismGroupView →
Disorder of lysosomal amino acid transportGroupView →
Disorder of lysosomal-related organellesGroupView →
Disorder of magnesium transportGroupView →
Disorder of manganese transportGroupView →
Disorder of melanin metabolismGroupView →
Disorder of metabolite absorption and transportGroupView →
Disorder of methionine cycle and sulfur amino acid metabolismGroupView →
Disorder of mineral absorption and transportGroupView →
Disorder of multiple glycosylationGroupView →
Disorder of neurotransmitter metabolism and transportGroupView →
Disorder of neutral amino acid transportGroupView →
Disorder of O-mannosylglycan synthesisGroupView →
Disorder of O-N-acetylgalactosaminylglycan synthesisGroupView →
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesisGroupView →
Disorder of O-xylosylglycan synthesisGroupView →
Disorder of ornithine metabolismGroupView →
Disorder of ornithine or proline metabolismGroupView →
Disorder of other vitamins and cofactors metabolism and transportGroupView →
Disorder of pentose phosphate metabolismGroupView →
Disorder of peptide metabolismGroupView →
Disorder of peroxisomal alpha-, beta- and omega-oxidationGroupView →
Disorder of phenylalanin or tyrosine metabolismGroupView →
Disorder of phenylalanine metabolismGroupView →
Disorder of phospholipids, sphingolipids and fatty acids biosynthesisGroupView →
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvementGroupView →
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvementGroupView →
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvementGroupView →
Disorder of plasmalogens biosynthesisGroupView →
Disorder of porphyrin and heme metabolismGroupView →
Disorder of proline metabolismGroupView →
Disorder of protein N-glycosylationGroupView →
Disorder of protein O-glycosylationGroupView →
Disorder of pterin metabolismGroupView →
Disorder of purine metabolismGroupView →
Disorder of purine or pyrimidine metabolismGroupView →
Disorder of pyridoxine metabolismGroupView →
Disorder of pyrimidine metabolismGroupView →
Disorder of serine or glycine metabolismGroupView →
Disorder of sialic acid metabolismGroupView →
Disorder of the gamma-glutamyl cycleGroupView →
Disorder of thiamine metabolism and transportGroupView →
Disorder of tryptophan metabolismGroupView →
Disorder of tyrosine metabolismGroupView →
Disorder of urea cycle metabolism and ammonia detoxificationGroupView →
Disorder of vitamin and non-protein cofactor absorption and transportGroupView →
Disorder of zinc metabolism and transportGroupView →
Disorder with multisystemic involvement and glomerulopathyRenalGroupView →
Disorder with multisystemic involvement and primary lymphedemaGroupView →
Disorder with optic nerve compressionGroupView →
Disorders of pentose/polyol metabolismGroupView →
Disorders of vitamin D metabolismGroupView →
Dissecting cellulitis of the scalpView →
Disseminated peritoneal leiomyomatosisView →
Disseminated superficial actinic porokeratosisDermatologicalView →
Distal 16p11.2 microdeletion syndromeView →
Distal 17p13.1 microdeletion syndromeView →
Distal 17p13.3 microdeletion syndromeView →
Distal 22q11.2 microdeletion syndromeView →
Distal 22q11.2 microduplication syndromeView →
Distal 7q11.23 microdeletion syndromeView →
Distal 7q11.23 microduplication syndromeView →
Distal anoctaminopathyView →
Distal arthrogryposis type 1View →
Distal arthrogryposis type 10View →
Distal arthrogryposis type 5DView →
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndromeView →
Distal deletion 10q syndromeView →
Distal deletion 12p syndromeView →
Distal deletion 12q syndromeView →
Distal deletion 13q syndromeView →
Distal deletion 14q syndromeView →
Distal deletion 15q syndromeView →
Distal deletion 17q syndromeView →
Distal deletion 19p syndromeView →
Distal deletion 1q syndromeView →
Distal deletion 3p syndromeView →
Distal deletion 4q syndromeView →
Distal deletion 6p syndromeView →
Distal deletion 7p syndromeView →
Distal deletion 9p syndromeView →
Distal duplication 10q syndromeView →
Distal duplication 11q syndromeView →
Distal duplication 13q syndromeView →
Distal duplication 14q syndromeView →
Distal duplication 15q syndromeView →
Distal duplication 16q syndromeView →
Distal duplication 17q syndromeView →
Distal duplication 18q syndromeView →
Distal duplication 19q syndromeView →
Distal duplication 1p36 syndromeView →
Distal duplication 20q syndromeView →
Distal duplication 22q syndromeView →
Distal duplication 2p syndromeView →
Distal duplication 2q syndromeView →
Distal duplication 3p syndromeView →
Distal duplication 4q syndromeView →
Distal duplication 5q syndromeView →
Distal duplication 6p syndromeView →
Distal duplication 6q syndromeView →
Distal duplication 7p syndromeView →
Distal duplication 8q syndromeView →
Distal duplication 9q syndromeView →
Distal hereditary motor neuropathy type 11 recruitingView →
Distal hereditary motor neuropathy type 21 recruitingView →
Distal hereditary motor neuropathy type 5View →
Distal hereditary motor neuropathy type 7View →
Distal hereditary motor neuropathy, Jerash typeView →
Distal limb deficiencies-micrognathia syndromeView →
Distal monosomy 7q36 syndromeView →
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathyView →
Distal Myopathy2 recruitingNeuromuscularView →
Distal myopathy with anterior tibial onsetNeuromuscularView →
Distal myopathy with early respiratory muscle involvementNeuromuscularView →
Distal myopathy, Tateyama typeNeuromuscularView →
Distal myotilinopathyView →
Distal renal tubular acidosis1 recruitingRenalView →
Distal renal tubular acidosis with anemia1 recruitingBloodView →
Distal spinal muscular atrophy type 31 recruitingNeuromuscularView →
Distal triplication 15q syndromeView →
Distal Xq28 microduplication syndromeView →
Distichiasis-congenital heart defects-peripheral vascular anomalies syndromeView →
DITRA10 recruitingView →
DK1-CDGView →
DNA repair defect other than combined T-cell and B-cell immunodeficienciesGroupView →
DNA2-related mitochondrial DNA deletion syndromeMitochondrialView →
DNAJB2-related Charcot-Marie-Tooth disease type 2View →
DNAJB4-related distal myopathyNeuromuscularView →
DNAJB6-related distal myopathyNeuromuscularView →
DNAJB6-related limb-girdle muscular dystrophy D12 recruitingNeuromuscularView →
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectNeurologicalView →
DNMT3A-related microcephalic dwarfismView →
Dobrow syndromeView →
Dominant hypophosphatemia with nephrolithiasis or osteoporosis1 recruitingRenalView →
Donnai-Barrow syndromeView →
Donohue syndromeView →
DONSON-related microcephaly-short stature-limb abnormalities spectrumView →
DOORS syndrome2 recruitingView →
Dopa-responsive dystonia due to sepiapterin reductase deficiencyView →
Dopamine beta-hydroxylase deficiencyView →
Dorsal spinal cord lipomaView →
Double outlet left ventricleView →
Double outlet right ventricle2 recruitingView →
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxyRespiratoryView →
Double outlet right ventricle with doubly committed ventricular septal defectView →
Double outlet right ventricle with non-committed subpulmonary ventricular septal defectRespiratoryView →
Double outlet right ventricle with subaortic or doubly committed ventricular septal defectView →
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosisRespiratoryView →
Double outlet right ventricle with subaortic ventricular septal defectView →
Double outlet right ventricle with subpulmonary ventricular septal defectRespiratoryView →
Double uterus-hemivagina-renal agenesis syndromeRenalView →
Double-orifice mitral valveView →
Dowling-Degos diseaseView →
Down syndrome81 recruitingView →
DPAGT1-CDG1 recruitingView →
DPM1-CDG1 recruitingView →
DPM3-CDGView →
DracunculiasisView →
Dravet Syndrome16 recruitingNeurologicalView →
Drug reaction with eosinophilia and systemic symptoms1 recruitingView →
Drug-induced autoimmune hemolytic anemia2 recruitingBloodView →
Drug-induced localized lipodystrophyView →
Drug-induced lupus erythematosusView →
Drug-induced vasculitis4 recruitingImmuneView →
Drug-related renal tubular dysgenesis2 recruitingRenalView →
Duane anomaly-myopathy-scoliosis syndromeNeuromuscularView →
Duane retraction syndrome1 recruitingView →
Duane retraction syndrome with congenital deafnessView →
Dubin-Johnson syndrome1 recruitingView →
Dubowitz syndromeView →
Duchenne Muscular Dystrophy61 recruitingNeuromuscularView →
Duodenal atresia2 recruitingView →
Duodenal neuroendocrine tumorEndocrineGroupView →
Duplication of the pituitary glandEndocrineView →
Duplication of urethraView →
Dural sinus malformation with arteriovenous shuntView →
Dural sinus malformation without arteriovenous shuntView →
Dursun syndromeView →
Dwarfism-tall vertebrae syndromeView →
Dyggve-Melchior-Clausen diseaseView →
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophyNeuromuscularView →
DYRK1A-related intellectual disability syndrome1 recruitingView →
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionView →
Dysbetalipoproteinemia3 recruitingView →
Dyschromatosis symmetrica hereditariaView →
Dyschromatosis universalis hereditariaView →
Dysembryoplastic neuroepithelial tumor2 recruitingView →
Dysequilibrium syndrome5 recruitingView →
Dysferlin-related limb-girdle muscular dystrophy R2NeuromuscularView →
Dyskeratosis congenita8 recruitingView →
Dysmorphism-cleft palate-loose skin syndromeView →
Dysmorphism-conductive hearing loss-heart defect syndromeView →
Dysmorphism-pectus carinatum-joint laxity syndromeView →
Dysmorphism-short stature-deafness-difference of sex development syndromeView →
DysosteosclerosisView →
DysostosisConnective TissueGroupView →
Dysostosis of genetic originConnective TissueGroupView →
Dysostosis of genetic origin with limb anomaly as a major featureConnective TissueGroupView →
Dysostosis with brachydactylyConnective TissueGroupView →
Dysostosis with brachydactyly with extraskeletal manifestationsConnective TissueGroupView →
Dysostosis with brachydactyly without extraskeletal manifestationsConnective TissueGroupView →
Dysostosis with combined reduction defects of upper and lower limbsConnective TissueGroupView →
Dysostosis with limb and face anomalies as a major featureConnective TissueGroupView →
Dysostosis with limb anomaly as a major featureConnective TissueGroupView →
Dysostosis with predominant craniofacial involvementConnective TissueGroupView →
Dysostosis with predominant vertebral and costal involvementConnective TissueGroupView →
Dysphagia lusoriaView →
Dysplasia epiphysealis hemimelicaView →
Dysplasia of head of femur, Meyer typeView →
Dysplastic cortical hyperostosisView →
Dysplastic cortical hyperostosis, Al-Gazali typeView →
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta typeView →
Dysraphism-cleft lip/palate-limb reduction defects syndromeView →
Dyssegmental dysplasia-glaucoma syndromeView →
Dyssegmental dysplasia, Rolland-Desbuquois typeView →
Dyssegmental dysplasia, Silverman-Handmaker typeView →
DysspondyloenchondromatosisConnective TissueView →
Dystonia 14View →
Dystonia 16View →
Dystonia 28View →
Dystonia-aphonia syndromeView →
Dystonia-parkinsonism-hypermanganesemia syndromeNeurologicalView →
Dystrophic epidermolysis bullosa pruriginosaDermatologicalView →
OBSOLETE: Dacryocystitis-osteopoikilosis syndromeRetired termView →
OBSOLETE: DDX59-related orofaciodigital syndromeRetired termView →
OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndromeRetired termView →
OBSOLETE: Deafness-white hair-contractures-papillomas syndromeRetired termView →
OBSOLETE: Deletion 20pRetired termView →
OBSOLETE: Deletion 4qRetired termView →
OBSOLETE: Dennis-Cohen syndromeRetired termView →
OBSOLETE: Developmental delay-deafness syndrome, Hildebrand typeRetired termView →
OBSOLETE: Diabetes associated to exocrine pancreas neoplasiaRetired termView →
OBSOLETE: Digestive duplicationRetired termView →
OBSOLETE: Disease predisposing to age-related macular degenerationOphthalmologicalRetired termView →
OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cellsRetired termView →
OBSOLETE: Disease with potential neoplastic degeneration associated with ocular featuresRetired termView →
OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cellsRetired termView →
OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cellsRetired termView →
OBSOLETE: Disorder in the hormonal synthesis with or without goiterRetired termView →
OBSOLETE: Disorder with acute infantile liver failureRetired termView →
OBSOLETE: Distal monosomy 20qRetired termView →
OBSOLETE: Distal spinal muscular atrophyNeuromuscularRetired termView →
OBSOLETE: Drug and/or toxic myopathyNeuromuscularRetired termView →
OBSOLETE: Duplication 4qRetired termView →
OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndromeRetired termView →
OBSOLETE: Dyschondrosteosis-nephritis syndromeRetired termView →
OBSOLETE: Dysharmonic micromeliaRetired termView →
OBSOLETE: Dysmorphic syndrome associated with bone anomalyRetired termView →