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 →