| | Daentl Towsend Siegel syndrome |
| | Dahlberg Borer Newcomer syndrome |
| | Daish Hardman Lamont syndrome |
| | Dandy Walker facial hemangioma |
| | Dandy Walker malformation postaxial polydactyly |
| | Dandy Walker syndrome recessive form |
| | Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures |
| | Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy |
| | Daneman Davy Mancer syndrome |
| | Davenport Donlan syndrome |
| | De Hauwere Leroy Adriaenssens syndrome |
| | De Sanctis-Cacchione syndrome |
| | Deaf blind hypopigmentation |
| | Deafness conductive ptosis skeletal anomalies |
| | Deafness conductive stapedial ear malformation facial palsy |
| | Deafness congenital onychodystrophy recessive |
| | Deafness craniofacial syndrome |
| | Deafness enamel hypoplasia nail defects |
| | Deafness epiphyseal dysplasia short stature |
| | Deafness goiter stippled epiphyses |
| | Deafness hyperuricemia neurologic ataxia |
| | Deafness hypogonadism syndrome |
| | Deafness hypospadias metacarpal and metatarsal syndrome |
| | Deafness mesenteric diverticula of small bowel neuropathy |
| | Deafness mixed with perilymphatic Gusher, X-linked |
| | Deafness nephritis ano rectal malformation |
| | Deafness neurosensory pituitary dwarfism |
| | Deafness nonsyndromic, Connexin 26 linked |
| | Deafness oligodontia syndrome |
| | Deafness onychodystrophy dominant form |
| | Deafness peripheral neuropathy arterial disease |
| | Deafness progressive cataract autosomal dominant |
| | Deafness skeletal dysplasia lip granuloma |
| | Deafness vitiligo achalasia |
| | Deafness white hair contractures papillomas |
| | Deafness, autosomal dominant nonsyndromic sensorineural |
| | Deafness, isolated, due to mitochondrial transmission |
| | Deafness, neurosensory nonsyndromic recessive, DFN |
| | Deal Barratt Dillon syndrome |
| | Defect in synthesis of adenosylcobalamin |
| | Defective apolipoprotein B-100 |
| | Defective expression of HLA class 2 |
| | Degenerative motor system disease |
| | Degenerative optic myopathy |
| | Degos 'en cocarde' erythrokeratoderma |
| | Delayed membranous cranial ossification |
| | Delayed speech facial asymmetry strabismus ear lobe creases |
| | Delleman Oorthuys syndrome |
| | Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency |
| | Dementia progressive lipomembranous polycysta |
| | Dementia, familial British |
| | Dennis Fairhurst Moore syndrome |
| | Dental aberrations steroid dehydrogenase deficienciency |
| | Dentatorubral pallidoluysian atrophy |
| | Dentin dysplasia sclerotic bones |
| | Dentin dysplasia, coronal |
| | Dentin dysplasia, radicular |
| | Dentinogenesis imperfecta |
| | Depersonalization disorder |
| | Der kaloustian Jarudi Khoury syndrome |
| | Der Kaloustian Mcintosh Silver syndrome |
| | Dermatocardioskeletal syndrome Boronne type |
| | Dermatoosteolysis Kirghizian type |
| | Dermatopathia pigmentosa reticularis |
| | Dermochondrocorneal dystrophy of Francois |
| | Desmoplastic small round cell tumor |
| | Developmental delay hypotonia extremities hypertrophy |
| | Developmental dysphasia familial |
| | Devriendt Legius Fryns syndrome |
| | Devriendt Vandenberghe Fryns syndrome |
| | Dexamethasone sensitive hypertension |
| | Dextrocardia with situs inversus |
| | Dextrocardia-bronchiectasis-sinusitis |
| | D-glycerate dehydrogenase deficiency |
| | Diabetes hypogonadism deafness mental retardation |
| | Diabetes insipidus, diabetes mellitus, optic atrophy |
| | Diabetes insipidus, nephrogenic type 1 |
| | Diabetes insipidus, nephrogenic type 2 |
| | Diabetes insipidus, nephrogenic type 3 |
| | Diabetes insipidus, nephrogenic, dominant type |
| | Diabetes insipidus, nephrogenic, recessive type |
| | Diabetes mellitus, transient neonatal |
| | Diabetes persistent mullerian ducts |
| | Diabetes, insulin dependent |
| | Diaphragmatic agenesis radial aplasia omphalocele |
| | Diaphragmatic defect limb deficiency skull defect |
| | Diaphragmatic hernia abnormal face limb |
| | Diaphragmatic hernia exomphalos corpus callosum agenesis |
| | Diaphragmatic hernia upper limb defects |
| | Diaphragmatic hernia, congenital |
| | Diarrhea chronic with villous atrophy |
| | Diarrhea polyendocrinopathy infections X linked |
| | Dibasic aminoaciduria type 1 |
| | Dicarboxylicaminoaciduria |
| | Die Smulders Droog Van Dijk syndrome |
| | Die Smulders Vles Fryns syndrome |
| | Diethylstilbestrol antenatal infection |
| | Diffuse idiopathic skeletal hyperostosis |
| | Diffuse leiomyomatosis with Alport syndrome |
| | Diffuse neonatal hemangiomatosis |
| | Diffuse palmoplantar keratoderma, Bothnian type |
| | Diffuse parenchymal lung disease |
| | Digitorenocerebral syndrome |
| | Dihydropteridine reductase deficiency |
| | Dihydropyrimidine dehydrogenase deficiency |
| | Dimitri Sturge Weber syndrome |
| | Dincsoy Salih Patel syndrome |
| | Dinno Shearer Weisskopf syndrome |
| | Diomedi Bernardi Placidi syndrome |
| | Dionisi Vici Sabetta Gambarara syndrome |
| | Diphallus rachischisis imperforate anus |
| | Diphosphoglycerate mutase deficiency of erythrocyte |
| | Disaccharide intolerance iii |
| | Discoid lupus erythematosus |
| | Dislocation of the hip dysmorphism |
| | Disorder in the hormonal synthesis with or without goiter |
| | Dissecting cellulitis of the scalp |
| | Dissociative identity disorder |
| | Distal arthrogryposis Moore Weaver type |
| | Distal myopathy Markesbery-Griggs type |
| | Distal myopathy with vocal cord weakness |
| | Distal myopathy, Nonaka type |
| | Distal primary acidosis, familial |
| | Distichiasis heart congenital anomalies |
| | D-minus hemolytic uremic syndrome |
| | Dominant ichthyosis vulgaris |
| | Dominant zonular cataract |
| | Dopamine beta-hydroxylase deficiency |
| | Double fingernail of fifth finger |
| | Double outlet left ventricle |
| | Double outlet right ventricle |
| | Double tachycardia induced by catecholamines |
| | Double uterus-hemivagina-renal agenesis |
| | Doxorubicin-induced cardiomyopathy |
| | Doyne honeycomb retinal dystrophy |
| | D-plus hemolytic uremic syndrome |
| | Drachtman Weinblatt Sitarz syndrome |
| | Duane anomaly mental retardation |
| | Duchenne muscular dystrophy |
| | Duker Weiss Siber syndrome |
| | Duodenal atresia tetralogy of Fallot |
| | Duplication of leg mirror foot |
| | Duplication of the thumb unilateral biphalangeal |
| | Dupont Sellier Chochillon syndrome |
| | Dupuytren subungual exostosis |
| | Dust-induced lung disease |
| | Dwarfism deafness retinitis pigmentosa |
| | Dwarfism lethal type advanced bone age |
| | Dwarfism mental retardation eye abnormality |
| | Dwarfism short limb absent fibulas very short digits |
| | Dwarfism stiff joint ocular abnormalities |
| | Dwarfism syndesmodysplasic |
| | Dwarfism thin bones multiple fractures |
| | Dyggve-Melchior-Clausen syndrome |
| | Dykes Markes Harper syndrome |
| | Dysautonomia (does not have to be familial) (Autonomic Nervous System Diseases) |
| | Dyschondrosteosis nephritis |
| | Dyschromatosis universalis |
| | Dysencephalia splachnocystica or Meckel Gruber |
| | Dyserythropoietic anemia, congenital type 1 |
| | Dyserythropoietic anemia, congenital type 2 |
| | Dyserythropoietic anemia, congenital type 3 |
| | Dyserythropoietic anemia, congenital |
| | Dysfibrinogenemia, familial |
| | Dysharmonic skeletal maturation muscular fiber disproportion |
| | Dyskeratosis congenita of Zinsser Cole Engman |
| | Dyskeratosis follicularis |
| | Dysmorphism abnormal vocalization mental retardation |
| | Dysmorphism cleft palate loose skin |
| | Dysostosis acral with facial and genital abnormalities |
| | Dysphasic dementia, hereditary |
| | Dysphonia, chronic spasmodic |
| | Dysplasia epiphysealis hemimelica |
| | Dysplastic cortical hyperostosis |
| | Dysplastic nevus syndrome |
| | Dysraphism cleft lip palate limb reduction defects |
| | Dyssegmental dysplasia glaucoma |
| | Dyssegmental dysplasia Silverman Handmaker type |
| | Dystonia musculorum deformans type 1 |
| | Dystonia musculorum deformans type 2 |
| | Dystonia musculorum deformans |
| | Dystonia progressive with diurnal variation |
| | Dystrophic epidermolysis bullosa |
| |