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Rare conditions starting with D
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302 conditions starting with D
- D-2-hydroxyglutaric aciduria
- D-Glyceric aciduria
- D,L-2-hydroxyglutaric aciduria
- Dacryocystitis-osteopoikilosis syndrome
- Dahlberg-Borer-Newcomer syndrome
- Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
- Dandy-Walker malformation-postaxial polydactyly syndrome
- Dandy-Walker syndrome
- Danon disease
- DCTN1-related neurodegeneration
- DDX41-related hematologic malignancy predisposition syndrome
- De Barsy syndrome
- De Lange syndrome
- DE SANCTIS-CACCHIONE SYNDROME
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness dystonia syndrome
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Deafness-craniofacial syndrome
- Deafness-ear malformation-facial palsy syndrome
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- Deafness-epiphyseal dysplasia-short stature syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Deafness-hypogonadism syndrome
- Deafness-infertility syndrome
- Deafness-intellectual disability, Martin-Probst type syndrome
- Deafness-lymphedema-leukemia syndrome
- Deafness-oligodontia syndrome
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Deafness-vitiligo-achalasia syndrome
- Decreased circulating level of specific antibody
- Deep dermatophytosis
- Deficiency in anterior pituitary function - variable immunodeficiency syndrome
- Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase
- Deficiency of acetyl-CoA acetyltransferase
- Deficiency of adenosine deaminase 2
- Deficiency of alpha-mannosidase
- Deficiency of aromatic-L-amino-acid decarboxylase
- Deficiency of beta-ureidopropionase
- Deficiency of bisphosphoglycerate mutase
- Deficiency of butyryl-CoA dehydrogenase
- Deficiency of butyrylcholinesterase
- Deficiency of ferroxidase
- Deficiency of galactokinase
- Deficiency of guanidinoacetate methyltransferase
- Deficiency of hyaluronoglucosaminidase
- Deficiency of hydroxymethylglutaryl-CoA lyase
- Deficiency of isobutyryl-CoA dehydrogenase
- Deficiency of malonyl-CoA decarboxylase
- Deficiency of mevalonate kinase
- Deficiency of ribose-5-phosphate isomerase
- Deficiency of steroid 11-beta-monooxygenase
- Deficiency of steroid 17-alpha-monooxygenase
- Deficiency of transaldolase
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Dejerine-Sottas disease
- Delayed membranous cranial ossification
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Deletion 5q35
- Delta-beta-thalassemia
- Dementia associated with AIDS
- Demodicidosis
- DEND syndrome
- Dendritic cell tumor
- Dengue disease
- Dennis-Fairhurst-Moore syndrome
- Dent disease
- Dentatorubral-pallidoluysian atrophy
- Dentin dysplasia
- 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-short stature-hearing loss-intellectual disability syndrome
- Dermatitis herpetiformis, familial
- Dermatofibrosarcoma protuberans
- Dermatofibrosis lenticularis disseminata
- Dermatoleukodystrophy
- Dermatomyositis
- Dermatoosteolysis, Kirghizian type
- Dermatopathia pigmentosa reticularis
- Dermo-odonto dysplasia
- Dermoid or epidermoid cyst of the central nervous system
- Dermotrichic syndrome
- DeSanto-Shinawi syndrome
- DeSanto-Shinawi syndrome due to WAC point mutation
- Desbuquois syndrome
- Desmin-related myofibrillar myopathy
- Desmoid tumor
- Desmoplastic infantile astrocytoma
- Desmoplastic infantile ganglioglioma
- Desmoplastic small round cell tumor
- Desmosterolosis
- Developmental and epileptic encephalopathy 94
- Developmental and epileptic encephalopathy, 1
- Developmental and epileptic encephalopathy, 12
- Developmental and epileptic encephalopathy, 13
- Developmental and epileptic encephalopathy, 17
- Developmental and epileptic encephalopathy, 18
- Developmental and epileptic encephalopathy, 23
- Developmental and epileptic encephalopathy, 26
- Developmental and epileptic encephalopathy, 34
- Developmental and epileptic encephalopathy, 35
- Developmental and epileptic encephalopathy, 36
- Developmental and epileptic encephalopathy, 39
- Developmental and epileptic encephalopathy, 4
- Developmental and epileptic encephalopathy, 46
- Developmental and epileptic encephalopathy, 50
- Developmental and epileptic encephalopathy, 54
- Developmental and epileptic encephalopathy, 64
- Developmental and epileptic encephalopathy, 7
- Developmental and epileptic encephalopathy, 71
- Developmental and epileptic encephalopathy, 73
- Developmental and epileptic encephalopathy, 8
- Developmental and epileptic encephalopathy, 9
- Developmental and/or epileptic encephalopathy with spike-wave activation in sleep
- Developmental delay with autism spectrum disorder and gait instability
- Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
- Developmental malformations-deafness-dystonia syndrome
- Dextro-looped transposition of the great arteries
- Dextrocardia
- Diabetes mellitus, transient neonatal, 1
- Diabetes-deafness syndrome maternally transmitted
- Diabetic embryopathy
- Diamond-Blackfan anemia
- Diamond-Blackfan anemia 2
- Diamond-Blackfan anemia 3
- Dianzani autoimmune lymphoproliferative disease
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- Diaphanospondylodysostosis
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Diaphragmatic hernia-short bowel-asplenia syndrome
- Diaphyseal dysplasia
- Diaphyseal medullary stenosis-bone malignancy syndrome
- Diastematomyelia
- Diastrophic dysplasia
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
- Dicarboxylic aminoaciduria
- DICER1-related tumor predisposition
- Diencephalic syndrome
- Diencephalic-mesencephalic junction dysplasia
- Diencephalic-mesencephalic junction dysplasia syndrome 1
- Dieterich disease
- Differentiated thyroid carcinoma
- Diffuse astrocytoma
- Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous systemic sclerosis
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
- Diffuse idiopathic skeletal hyperostosis
- Diffuse intrinsic pontine glioma
- Diffuse neonatal hemangiomatosis
- Diffuse nonepidermolytic palmoplantar keratoderma
- Diffuse palmoplantar keratoderma - acrocyanosis syndrome
- Diffuse palmoplantar keratoderma with painful fissures
- Diffuse panbronchiolitis
- Digestive duplication
- Digestive system neuroendocrine neoplasm
- Digitotalar dysmorphism
- Dihydropteridine reductase deficiency
- Dihydropyrimidinase deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Dilated cardiomyopathy 1A
- Dilated cardiomyopathy 1E
- Dilated cardiomyopathy 1J
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Dimethylglycine dehydrogenase deficiency
- Diphallia
- Diphtheria
- Diphyllobothriasis
- Diploid-triploid mosaicism
- Diprosopus
- Dirofilariasis
- Dislocation of the hip-dysmorphism syndrome
- Disorder of amino acid metabolism
- Disorder of sex development-intellectual disability syndrome
- Disorder of the urea cycle metabolism
- Disseminated candidiasis
- Disseminated peritoneal leiomyomatosis
- Disseminated superficial actinic porokeratosis
- Distal 10q deletion syndrome
- Distal 16p11.2 microdeletion syndrome
- Distal 17p13.1 microdeletion syndrome
- Distal 17p13.3 microdeletion syndrome
- Distal 22q11.2 microduplication syndrome
- Distal 7q11.23 microdeletion syndrome
- Distal 7q11.23 microduplication syndrome
- Distal arthrogryposis type 10
- Distal arthrogryposis type 5D
- Distal chromosome 18q deletion syndrome
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 7
- Distal monosomy 10p
- Distal monosomy 12p
- Distal monosomy 13q
- Distal monosomy 14q
- Distal monosomy 17q
- Distal monosomy 19p13.3
- Distal monosomy 1q
- Distal monosomy 4q
- Distal monosomy 7p
- Distal monosomy 7q36
- Distal monosomy 9p syndrome
- Distal myopathy with anterior tibial onset
- Distal myopathy with posterior leg and anterior hand involvement
- Distal myopathy with vocal cord weakness
- Distal myopathy, Tateyama type
- Distal renal tubular acidosis
- Distal symphalangism
- Distal trisomy 10q
- Distal trisomy 11q
- Distal trisomy 13q
- Distal trisomy 14q
- Distal trisomy 16q
- Distal trisomy 17q
- Distal trisomy 18q
- Distal trisomy 19q
- Distal trisomy 1p36
- Distal trisomy 20q
- Distal trisomy 22q
- Distal trisomy 2p
- Distal trisomy 2q
- Distal trisomy 3p
- Distal trisomy 4q
- Distal trisomy 5q
- Distal trisomy 6p
- Distal trisomy 6q
- Distal trisomy 7p
- Distal trisomy 8q
- Distal trisomy 9q
- Distal Xq28 microduplication syndrome
- Distichiasis-lymphedema syndrome
- Distomatosis
- Diverticulosis of bowel, hernia, and retinal detachment
- DK1-congenital disorder of glycosylation
- DNA ligase IV deficiency
- DOCK2 deficiency
- Dominant hereditary optic atrophy
- Donnai-Barrow syndrome
- Donohue syndrome
- DONSON-related microcephaly-short stature-limb abnormalities spectrum
- DOORS syndrome
- Dopa-responsive dystonia
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Double outlet left ventricle
- Double outlet right ventricle
- Double uterus-hemivagina-renal agenesis syndrome
- Double Y syndrome
- Dowling-Degos disease
- Doyne honeycomb retinal dystrophy
- DPAGT1-congenital disorder of glycosylation
- DPM3-congenital disorder of glycosylation
- Drachtman Weinblatt Sitarz syndrome
- Drash syndrome
- Drug rash with eosinophilia and systemic symptoms
- Duane anomaly-myopathy-scoliosis syndrome
- Duane retraction syndrome
- Duane retraction syndrome with congenital deafness
- Duane-radial ray syndrome
- Dubin-Johnson syndrome
- Dubowitz syndrome
- Duchenne muscular dystrophy
- Duodenal atresia
- Duplication of the pituitary gland
- Duplication of urethra
- Duplication/inversion 15q11
- Dyggve-Melchior-Clausen syndrome
- DYRK1A-related intellectual disability syndrome
- Dyschondrosteosis-nephritis syndrome
- Dyschromatosis universalis hereditaria
- Dysembryoplastic neuroepithelial tumor
- Dysequilibrium syndrome
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal dominant 1
- Dyskeratosis congenita, autosomal recessive 1
- Dyskeratosis congenita, X-linked
- Dyskinesia with orofacial involvement, autosomal dominant
- Dysmorphism-cleft palate-loose skin syndrome
- Dysmorphism-conductive hearing loss-heart defect syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome
- Dysmorphism-short stature-deafness-disorder of sex development syndrome
- Dysosteosclerosis
- Dysplasia epiphysealis hemimelica
- Dysplasia of head of femur, Meyer type
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Dysraphism-cleft lip/palate-limb reduction defects syndrome
- Dysspondyloenchondromatosis
- Dystonia 12
- Dystonia 16
- Dystonia 21
- Dystonia 23
- Dystonia 24
- Dystonia 25
- Dystonia 27
- Dystonia 28, childhood-onset
- Dystonia 5
- Dystonia 9
- Dystonia-aphonia syndrome
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
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