- Diethylstilbestrol embryofetopathy - See Diethylstilbestrol syndrome
- Diethylstilbestrol prenatal exposure - See Diethylstilbestrol syndrome
- Diethylstilbestrol syndrome
- Dieulafoy disease - See Dieulafoy lesion
- Dieulafoy lesion
- Dieulafoy's lesion - See Dieulafoy lesion
- Diffuse alopecia - See Alopecia areata - not a rare disease
- Diffuse astrocytoma
- Diffuse cavernous hemangioma of the rectum
- Diffuse cerebral degeneration in infancy - See Alpers syndrome
- Diffuse cerebral sclerosis of Schilder - See Tumefactive multiple sclerosis
- Diffuse cutaneous maculopapulous mastocytosis - See Diffuse cutaneous mastocytosis
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous systemic scleroderma - See Diffuse cutaneous systemic sclerosis
- Diffuse cutaneous systemic sclerosis - See Diffuse cutaneous systemic sclerosis
- Diffuse cutaneous systemic sclerosis
- Diffuse cystic renal dysplasia - See Renal dysplasia diffuse cystic
- Diffuse dermal angiomatosis
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type - See Epidermolytic palmoplantar keratoderma
- Diffuse gastric cancer
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
- Diffuse idiopathic skeletal hyperostosis - not a rare disease
- Diffuse intrinsic pontine glioma
- Diffuse isolated mesangial sclerosis - See Diffuse mesangial sclerosis
- Diffuse Large B-Cell Lymphoma
- Diffuse leiomyomatosis in Alport syndrome - See Leiomyomatosis, esophageal and vulval, with nephropathy
- Diffuse Lewy body disease - See Lewy body dementia - not a rare disease
- Diffuse mesangial sclerosis
- Diffuse neonatal hemangiomatosis
- Diffuse NEPPK - See Unna-Thost palmoplantar keratoderma
- Diffuse nonepidermolytic palmoplantar keratoderma - See Unna-Thost palmoplantar keratoderma
- Diffuse palmoplantar keratoderma with deafness (subtype) - See Keratoderma palmoplantar deafness
- Diffuse palmoplantar keratoderma, Bothnian type
- Diffuse panbronchiolitis
- Diffuse peritoneal leiomyomatosis - See Disseminated peritoneal leiomyomatosis
- Diffuse pigmented villonodular synovitis - See Pigmented villonodular synovitis
- Diffuse uveitis - See Panuveitis
- Diffuse-type GCT - See Pigmented villonodular synovitis
- Diffuse-type giant cell tumor - See Pigmented villonodular synovitis
- DIG - See Desmoplastic infantile ganglioglioma
- DiGeorge syndrome - See 22q11.2 deletion syndrome
- Digestive System Melanoma
- Digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a - See Vascular hyalinosis
- Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum - See Feingold syndrome
- Digitate dermatosis - See Parapsoriasis
- Digitorenocerebral syndrome - See DOOR syndrome
- Digitotalar dysmorphism - See Distal arthrogryposis type 1
- Dihydrofolate reductase deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
- Dihydrolipoamide dehydrogenase deficiency
- Dihydropteridine reductase deficiency
- Dihydropyrimidinase deficiency
- Dihydropyrimidine dehydrogenase deficiency - not a rare disease
- Dihydropyrimidinuria - See Dihydropyrimidinase deficiency
- Dihydrotestosterone receptor deficiency - See Androgen insensitivity syndrome
- Dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata
- Dihydroxyadeninuria
- Dilantin Embryopathy - See Fetal hydantoin syndrome
- Dilated cardiomyopathy
- Dilated cardiomyopathy with ataxia - See DCMA syndrome
- Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
- Dilated cardiomyopathy-1S - See Familial dilated cardiomyopathy
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Dilutional hyponatremia - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
- Dimyelia - See Split spinal cord malformation
- Dinno Shearer Weisskopf syndrome - See Pseudomarfanism
- Diomedi Bernardi Placidi syndrome
- Dionisi Vici Sabetta Gambarara syndrome - See Vici syndrome
- Dipetalonema infections - See Acanthocheilonemiasis
- Dipetalonemiasis - See Acanthocheilonemiasis
- DIPG - See Diffuse intrinsic pontine glioma
- Diphallia
- Diphallus - See Diphallia
- Diphallus rachischisis imperforate anus
- Diphosphoglycerate mutase deficiency of erythrocyte
- Diphtheria
- Diploid/triploid mixoploidy - See Diploid-triploid mosaicism
- Diploid/triploid mosaicism - See Diploid-triploid mosaicism
- Diploid-triploid mosaicism
- Diplomyelia - See Split spinal cord malformation
- DIPNECH - See Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
- Diprosopia
- Dipsogenic diabetes insipidus
- DIRA - See Deficiency of interleukin-1 receptor antagonist
- Dirofilariasis
- Disaccharide intolerance, 1 - See Congenital sucrase-isomaltase deficiency
- DiSala syndrome - See Warfarin syndrome
- Discoid lupus - See Lupus - not a rare disease
- Disembarkment syndrome - See Mal de debarquement syndrome
- DISH - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
- DISH Forestier's disease - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
- Dislocation of the hip dysmorphism - See Collins Pope syndrome
- Disomy Y - See 47, XYY syndrome
- Disorder of cornification 11 (phytanic acid type) - See Refsum disease
- Disorder of cornification 12 (neutral lipid storage type) - See Chanarin-Dorfman syndrome
- Disorder of isoleucine metabolism - See Tiglic acidemia
- Disorder of peroxisomal alpha-, beta- and omega-oxidation
- Disorder of peroxisomal function - See Peroxisome disorders - not a rare disease
- Disorder of sex development intellectual disability - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
- Disorder of valine metabolism - See 3-Hydroxyisobutyric aciduria
- Disordered steroidogenesis due to cytochrome P450 oxidoreductase - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Disorders of Intracellular Cobalamin Metabolism
- Disorders of peroxisome biogenesis - See Peroxisomal biogenesis disorders
- Disorders with deficiency of a single peroxisomal enzyme
- Displaced spleen - See Wandering spleen
- Dissecting cellulitis of the scalp
- Disseminated aseptic abscesses - See Corticosteroid-sensitive aseptic abscesses
- Disseminated infection with mycobacterium avium complex
- Disseminated lupus erythematosus - See Lupus - not a rare disease
- Disseminated nonossifying fibromas in association with cafe-au-lait spots - See Fibromatosis multiple non ossifying
- Disseminated peritoneal leiomyomatosis
- Disseminated superficial actinic porokeratosis
- Disseminated superficial actinic porokeratosis 2 - See Porokeratosis, disseminated superficial actinic 2
- Dissociative seizures
- Distal 17p13.1 microdeletion syndrome - See Chromosome 17p13.1 deletion syndrome
- Distal 18q- - See Distal chromosome 18q deletion syndrome
- Distal 18q deletion - See Distal chromosome 18q deletion syndrome
- Distal 18q deletion syndrome - See Distal chromosome 18q deletion syndrome
- Distal 3p deletion - See Chromosome 3p- syndrome
- Distal arthrogryposis
- Distal arthrogryposis type 1
- Distal arthrogryposis type 1A (sub-type) - See Distal arthrogryposis type 1
- Distal arthrogryposis type 1B (sub-type) - See Distal arthrogryposis type 1
- Distal arthrogryposis type 2A - See Freeman Sheldon syndrome
- Distal arthrogryposis type 2B - See Sheldon-Hall syndrome
- Distal arthrogryposis type 3 - See Gordon syndrome
- Distal arthrogryposis type 5
- Distal arthrogryposis type 5 without ophthalmoparesis - See Distal arthrogryposis
- Distal arthrogryposis type 5 without ophthalmoplegia - See Distal arthrogryposis
- Distal arthrogryposis type 5D - See Distal arthrogryposis
- Distal arthrogryposis type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
- Distal arthrogryposis type 7 - See Trismus-pseudocamptodactyly syndrome
- Distal arthrogryposis type 8 - See Distal arthrogryposis
- Distal arthrogryposis type 9 - See Congenital contractural arachnodactyly
- Distal arthrogryposis type IIB - See Sheldon-Hall syndrome
- Distal arthrogryposis type IIB - See Distal arthrogryposis type 5
- Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
- Distal arthrogryposis with ophthalmoplegia - See Distal arthrogryposis type 5
- Distal chromosome 18q deletion syndrome
- Distal Del(17)(p13.1) - See Chromosome 17p13.1 deletion syndrome
- Distal deletion 4p - See Wolf-Hirschhorn syndrome
- Distal duplication 16p - See Chromosome 16p13.3 duplication
- Distal hereditary motor neuropathy
- Distal monosomy 17q - See Chromosome 17q deletion
- Distal monosomy 3p - See Chromosome 3p- syndrome
- Distal monosomy 4p - See Wolf-Hirschhorn syndrome
- Distal myopathy 2 - See Distal myopathy with vocal cord weakness
- Distal myopathy with rimmed vacuoles - See Inclusion body myopathy 2
- Distal myopathy with vocal cord weakness
- Distal myopathy, Swedish type - See Welander distal myopathy, Swedish type
- Distal primary acidosis, familial
- Distal renal tubular acidosis with hemolytic anemia
- Distal spinal muscular atrophy - Another name for Distal hereditary motor neuropathy
- Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch - See Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
- Distal trisomy 16p - See Chromosome 16p13.3 duplication
- Distichiasis heart congenital anomalies
- Distilbene embryofetopathy - See Diethylstilbestrol syndrome
- Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development - See Sotos syndrome
- Distomatosis
- Disturbance of oral sensitivity - See Impairment of oral perception
- Divided left atrium - See Cor triatriatum sinister
- Divided right atrium - See Cor triatriatum dexter
- DJS - See Dubin-Johnson syndrome
- DK phocomelia syndrome
- DK1 DEFICIENCY - See DOLK-CDG (CDG-Im)
- DK1-CDG - See DOLK-CDG (CDG-Im)
- DKC - See Dyskeratosis congenita
- DKCA - See Dyskeratosis congenita autosomal dominant
- DKCB - See Dyskeratosis congenita autosomal recessive
- DKCX - See Dyskeratosis congenita X-linked
- DL-ATS - See Leiomyomatosis, esophageal and vulval, with nephropathy
- DLB - See Lewy body dementia - not a rare disease
- DLBCL - See Diffuse Large B-Cell Lymphoma
- DLD deficiency - See Dihydrolipoamide dehydrogenase deficiency
- DM1 - See Myotonic dystrophy type 1
- DM2 - See Myotonic dystrophy type 2
- DMAC - See Disseminated infection with mycobacterium avium complex
- DMC syndrome - See Dyggve-Melchior-Clausen syndrome
- DMD - See Duchenne muscular dystrophy
- DMDA - See Limb-girdle muscular dystrophy, type 2C
- DMDA1 - See Limb-girdle muscular dystrophy, type 2C
- DMDA2 - See Limb-girdle muscular dystrophy, type 2D
- D-minus hemolytic uremic syndrome (D-HUS)
- DMRV - See Inclusion body myopathy 2
- DMS - See Diffuse mesangial sclerosis
- DMSD - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
- DMSMFH - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- DMTN - See Transient neonatal diabetes mellitus
- DNM2-related centronuclear myopathy - See Autosomal dominant centronuclear myopathy
- DNM2-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
- DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - See Hereditary sensory and autonomic neuropathy type 1E
- DOA - See Dominant optic atrophy
- Dobrow syndrome
- Doc 11 (phytanic acid type) - See Refsum disease
- DOCK2 Deficiency
- DOCK8 deficiency - See Autosomal recessive hyper IgE syndrome
- DOLICHOL KINASE DEFICIENCY - See DOLK-CDG (CDG-Im)
- Dolichospondylic dysplasia - See 3M syndrome
- Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency - See DPAGT1-CDG (CDG-Ij)
- DOLK-CDG (CDG-Im)
- Dol-P-mannosyltransferase deficiency - See DPM1-CDG (CDG-Ie)
- Dominant ano-rectal malformation, nephritis and nerve-deafness - See Deafness nephritis anorectal malformation
- Dominant carpotarsal osteochondromatosis - See Carpotarsal osteochondromatosis
- Dominant cleft palate
- Dominant dystrophic epidermolysis bullosa
- Dominant dystrophic epidermolysis bullosa, generalized - See Dominant dystrophic epidermolysis bullosa
- Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis - See Davenport Donlan syndrome
- Dominant ichthyosis vulgaris
- Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis - SeeMesomelia-synostoses syndrome
- Dominant optic atrophy
- DOMINANT OPTIC ATROPHY PLUS SYNDROME - See Autosomal dominant optic atrophy plus syndrome
- Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy - See Autosomal dominant optic atrophy plus syndrome
- Dominant preaxial brachydactyly with hallux varus and thumb abduction - See Brachydactyly preaxial with hallux varus and thumb abduction
- Dominantly inherited blepharoptosis, high myopia, and ectopia lentis - See Blepharoptosis myopia ectopia lentis
- Dominantly inherited bone dysplasia with severe eye involvement - See Verloes Van Maldergem Marneffe syndrome
- Dominantly inherited craniodiaphyseal dysplasia - See Schaefer Stein Oshman syndrome
- Dominantly inherited keratitis - See Keratitis, hereditary
- Dominantly inherited ptosis, strabismus and ectopic pupils - See McPherson Robertson Cammarano syndrome
- Donnai-Barrow syndrome
- Donohue syndrome - See Leprechaunism
- Donovanosis - See Granuloma Inguinale
- DOOR syndrome
- DOORS syndrome - See DOOR syndrome
- Doose syndrome - See Epilepsy with myoclonic-atonic seizures
- Dopa decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
- DOPA responsive dystonia, autosomal recessive - See Tyrosine hydroxylase deficiency
- Dopamine beta hydroxylase deficiency
- Dopamine beta-hydroxylase deficiency, congenital - See Dopamine beta hydroxylase deficiency
- Dopamine transporter deficiency syndrome
- Dopa-responsive dystonia
- Dopa-responsive dystonia autosomal dominant Segawa syndrome - See DYT/PARK-GCH1
- DOPA-responsive dystonia, with or without hyperphenylalaninemia - See DYT/PARK-GCH1
- Dorfman Chanarin syndrome - See Chanarin-Dorfman syndrome
- Dosage-sensitive sex reversal
- Double cortex - See Subcortical band heterotopia
- Double cortex syndrome - See Subcortical band heterotopia
- Double discordia
- Double fingernail of fifth finger
- Double heterozygotes sickling disorder - See Hemoglobinopathy
- Double inferior vena cava - not a rare disease
- Double IVC - See Double inferior vena cava - not a rare disease
- Double nails on the fifth toe
- Double outlet left ventricle
- Double outlet right atrium
- Double outlet right ventricle
- Double tachycardia induced by catecholamines - See Catecholaminergic polymorphic ventricular tachycardia
- Double tooth - See Fused mandibular incisors
- Double upper lip, blepharochalasis and enlargement of the thyroid - See Ascher Syndrome
- Double uterus-hemivagina-renal agenesis
- Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype - See Meacham Winn Culler syndrome
- Double Y - See 47, XYY syndrome
- Double Y syndrome - See 47, XYY syndrome
- Dowling-Degos disease
- Dowling-Degos Kitamura disease - See Dowling-Degos disease
- Dowling-Meara type epidermolysis bullosa simplex - See Epidermolysis bullosa simplex, Dowling-Meara type
- Down syndrome - not a rare disease
- Down's syndrome - See Down syndrome - not a rare disease
- Doxorubicin induced cardiomyopathy
- Doyne honeycomb degeneration of retina - See Doyne honeycomb retinal dystrophy
- Doyne honeycomb retinal dystrophy
- DPAGT1-CDG - See DPAGT1-CDG (CDG-Ij)
- DPAGT1-CDG (CDG-Ij) - See DPAGT1-CDG (CDG-Ij)
- DPAGT1-CDG (CDG-Ij)
- DPB - See Diffuse panbronchiolitis
- DPD deficiency - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
- DPD1 - See Camurati-Engelmann disease
- DPED - See Maturity-onset diabetes of the young
- DPH Deficiency - See Dihydropyrimidinase deficiency
- DPL - See Disseminated peritoneal leiomyomatosis
- D-plus hemolytic uremic syndrome (D+HUS)
- DPM1-CDG - See DPM1-CDG (CDG-Ie)
- DPM1-CDG (CDG-Ie) - See DPM1-CDG (CDG-Ie)
- DPM1-CDG (CDG-Ie)
- DPM2-CDG
- DPM3-CDG - See DPM3-CDG (CDG-Io)
- DPM3-CDG (CDG-Io)
- DPR - See Dermatopathia pigmentosa reticularis
- DPYS Deficiency - See Dihydropyrimidinase deficiency
- DR syndrome - See Duane-radial ray syndrome
- DRA - See Amyloidosis Beta2M
- Drachtman Weinblatt Sitarz syndrome
- Dracunculiasis
- Drash syndrome - See Denys-Drash syndrome
- Dravet syndrome
- DRESS syndrome - See Drug reaction with eosinophilia and systemic symptoms
- Drifting spleen - See Wandering spleen
- DRPLA - See Dentatorubral-pallidoluysian atrophy
- DRRS - See Duane-radial ray syndrome
- DRS - See Duane syndrome
- Drug induced dyskinesia - not a rare disease
- Drug rash with eosinophilia and systemic symptoms - See Drug reaction with eosinophilia and systemic symptoms
- Drug reaction eosinophilic systemic syndrome - See Drug reaction with eosinophilia and systemic symptoms
- Drug reaction with eosinophilia and systemic symptoms
- Drug-induced gigantomastia (subtype) - See Gigantomastia
- Drug-induced localized lipodystrophy (subtype) - See Localized lipodystrophy
- Drug-induced Stevens Johnson syndrome - See Stevens-Johnson syndrome/toxic epidermal necrolysis
- Dry eye syndrome - See Keratoconjunctivitis sicca - not a rare disease
- Dry skin, photophobia hyperkeratosis, abnormal fingernails - See Judge Misch Wright syndrome
- DSAP - See Disseminated superficial actinic porokeratosis
- DSAP1 - See Porokeratosis, disseminated superficial actinic 1
- DSAP2 - See Porokeratosis, disseminated superficial actinic 2
- DSH - See Dyschromatosis symmetrica hereditaria 1
- DSH1 - See Dyschromatosis symmetrica hereditaria 1
- dSMA - Another name for Distal hereditary motor neuropathy
- DSMA1 - See Spinal muscular atrophy with respiratory distress 1
- DSN - See Hypertrophic neuropathy of Dejerine-Sottas
- DSRCT - See Desmoplastic small round cell tumor
- DSS - See Dosage-sensitive sex reversal
- DSS - See Hypertrophic neuropathy of Dejerine-Sottas
- DTD - See Diastrophic dysplasia
- DTDP1 - See Dentin dysplasia, type 1
- DTDP2 - See Dentin dysplasia, coronal
- DTDS - See Dopamine transporter deficiency syndrome
- DTGA - See Transposition of the great arteries
- Du pan syndrome - See Fibular hypoplasia and complex brachydactyly
- Duane anomaly - See Duane syndrome
- Duane anomaly with radial abnormalities and deafness - See Duane-radial ray syndrome
- Duane retraction syndrome - See Duane syndrome
- Duane retraction syndrome 1 - See Duane syndrome type 1
- Duane retraction syndrome 2 - See Duane syndrome type 2
- Duane retraction syndrome 3 - See Duane syndrome type 3
- Duane syndrome
- Duane syndrome type 1
- Duane syndrome type 2
- Duane syndrome type 3
- Duane-radial ray syndrome
- Duarte Galactosemia
- Dubin-Johnson syndrome
- Dubowitz disease - See Spinal muscular atrophy type 2
- Dubowitz syndrome
- Duchenne muscular dystrophy
- Duchenne-like autosomal recessive muscular dystrophy, type 2 - See Limb-girdle muscular dystrophy, type 2D
- Duchenne-like muscular dystrophy, autosomal recessive, type 1 - See Limb-girdle muscular dystrophy, type 2C
- DUH - See Dyschromatosis universalis hereditaria
- Duhring Brocq disease - See Dermatitis herpetiformis
- Duhring-Brocq disease - See Dermatitis herpetiformis
- Duhring's disease - See Dermatitis herpetiformis
- Duker Weiss Siber syndrome
- Dunbar syndrome - See Celiac artery compression syndrome
- Duncan disease - See X-linked lymphoproliferative syndrome
- Dunnigan syndrome - See Familial partial lipodystrophy type 2
- Duodenal atresia
- Duodenal atresia tetralogy of Fallot
- Duodenal carcinoid syndrome
- Duodenal stenosis - See Duodenal atresia
- Duodenal ulcer due to antral G-cell hyperfunction
- Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
- Dup(16)(p13.11) - See 16p13.11 microduplication syndrome
- Dup(16)(p13.3) - See Chromosome 16p13.3 duplication
- Dup(17)(q12) - See 17q12 duplication
- Dup(17p) - See Chromosome 17p duplication
- Dup(7)(q11.23) - See 7q11.23 duplication syndrome
- Dup(8)(q12) - See 8q12 microduplication syndrome
- Dup(X)(p11.22p11.23) - See Microduplication Xp11.22-p11.23 syndrome
- Duplication 10p - See Chromosome 10p duplication
- Duplication 10q - See Chromosome 10q duplication
- Duplication 11p - See Chromosome 11p duplication
- Duplication 11q - See Chromosome 11q duplication
- Duplication 12p - See Chromosome 12p duplication
- Duplication 12q - See Chromosome 12q duplication
- Duplication 13q - See Chromosome 13q duplication
- Duplication 14q - See Chromosome 14q duplication
- Duplication 15q - See Chromosome 15q duplication
- Duplication 16p - See Chromosome 16p duplication
- Duplication 16q - See Chromosome 16q duplication
- Duplication 17p - See Chromosome 17p duplication
- Duplication 17p11.2 syndrome - See Potocki-Lupski syndrome
- Duplication 17q - See Chromosome 17q duplication
- Duplication 18p - See Chromosome 18p duplication
- Duplication 18q - See Chromosome 18q duplication
- Duplication 19p - See Chromosome 19p duplication
- Duplication 19q - See Chromosome 19q duplication
- Duplication 1p - See Chromosome 1p duplication
- Duplication 20p - See Chromosome 20p duplication
- Duplication 20q - See Chromosome 20q duplication
- Duplication 21q - See Chromosome 21q duplication
- Duplication 2p - See Chromosome 2p duplication
- Duplication 2q - See Chromosome 2q duplication
- Duplication 3p - See Chromosome 3p duplication
- Duplication 3q - See Chromosome 3q duplication
- Duplication 4p - See Chromosome 4p duplication
- Duplication 4q - See Chromosome 4q duplication
- Duplication 5p - See Chromosome 5p duplication
- Duplication 5q - See Chromosome 5q duplication
- Duplication 6p - See Chromosome 6p duplication
- Duplication 6q - See Chromosome 6q duplication
- Duplication 7p - See Chromosome 7p duplication
- Duplication 7q - See Chromosome 7q duplication
- Duplication 8p - See Chromosome 8p duplication
- Duplication 8q - See Chromosome 8q duplication
- Duplication 9p - See Chromosome 9p duplication
- Duplication 9q - See Chromosome 9q duplication
- Duplication of leg mirror foot
- Duplication of the thumb unilateral biphalangeal
- Duplication of urethra
- Duplication Xq - See Chromosome Xq duplication
- Duplication/inversion 15q11 - See Isodicentric chromosome 15 syndrome
- Dupont Sellier Chochillon syndrome
- Dupuytren subungual exostosis
- DURS1 - See Duane syndrome type 1
- DURS2 - See Duane syndrome type 2
- Dutch-Kentucky syndrome - See Trismus-pseudocamptodactyly syndrome
- DW complex - See Dandy-Walker complex
- Dwarfism - not a rare disease
- Dwarfism bluish sclerae
- Dwarfism deafness retinitis pigmentosa
- Dwarfism familial with muscle spasms
- Dwarfism lethal type advanced bone age
- Dwarfism Levi type
- Dwarfism Levi's type - See Dwarfism Levi type
- Dwarfism of Sindh - See Isolated growth hormone deficiency type 1B
- Dwarfism thanatophoric - See Thanatophoric dysplasia
- Dwarfism thin bones multiple fractures
- Dwarfism with short, bowed, rigid limbs and characteristic facies - See Boomerang dysplasia
- Dwarfism, cerebral atrophy and generalized keratosis follicularis - See Keratosis follicularis dwarfism and cerebral atrophy
- Dwarfism, cortical thickening of tubular bones and transient hypocalcemia - See Kenny-Caffey syndrome type 2
- Dwarfism, lean spastic type - See Coffin syndrome 1
- Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
- Dwarfism, proportionate with hip dislocation
- Dwarfism-eczema-peculiar facies syndrome - See Dubowitz syndrome
- Dwarfism-retinal atrophy-deafness syndrome - See Cockayne syndrome
- DWM with postaxial polydactyly - See Dandy-Walker malformation with postaxial polydactyly
- Dyggve-Melchior-Clausen disease - See Dyggve-Melchior-Clausen syndrome
- Dyggve-Melchior-Clausen syndrome
- Dykes Markes Harper syndrome
- DYRK1A Syndrome - See DYRK1A-Related Intellectual Disability Syndrome
- DYRK1A-Related Intellectual Disability Syndrome
- Dysautonomia like disorder
- Dysautonomia, familial - See Familial dysautonomia
- Dysbetalipoproteinemia - See Hyperlipidemia type 3
- Dyschondrodysplasia with Hemangiomas - See Maffucci syndrome
- Dyschondroplasia - See Ollier disease
- Dyschondrosteosis - See Leri Weill dyschondrosteosis
- Dyschondrosteosis nephritis
- Dyschondrosteosis, homozygous - See Langer mesomelic dysplasia
- Dyschromatosis symmetrica hereditaria - See Dyschromatosis symmetrica hereditaria 1
- Dyschromatosis symmetrica hereditaria 1
- Dyschromatosis universalis hereditaria
- Dysembryoplastic neuroepithelial tumor
- Dysencephalia splachnocystica - See Meckel syndrome
- Dysequilibrium syndrome
- Dyserythropoietic anemia, and neutrophilic dermatosis - See Majeed syndrome
- Dyserythropoietic anemia, congenital - See Congenital dyserythropoietic anemia
- Dyserythropoietic anemia, congenital type 1 - See Congenital dyserythropoietic anemia type 1
- Dyserythropoietic anemia, congenital type 3 - See Congenital dyserythropoietic anemia type 3
- Dyserythropoietic anemia, HEMPAS type - See Congenital dyserythropoietic anemia type 2
- Dysferlinopathy
- Dysfibrinogenemia
- Dysfibrinogenemia, familial - See Dysfibrinogenemia
- Dysfunction of the fifth component of complement (C5) - See Leiner disease
- Dysgenesis mesodermalis corneae et sclerae - See Brittle cornea syndrome
- Dysgnathia complex
- Dysharmonic skeletal maturation muscular fibre disproportion - See Qazi Markouizos syndrome
- Dyskeratosis congenita
- Dyskeratosis congenita autosomal dominant
- Dyskeratosis congenita autosomal recessive
- Dyskeratosis congenita Scoggins type - See Dyskeratosis congenita autosomal dominant
- Dyskeratosis congenita X-linked
- Dyskinesia, drug induced - See Drug induced dyskinesia - not a rare disease
- Dyskinesia, familial, with facial myokymia - See ADCY5-related dyskinesia
- Dyslipoproteinemic corneal dystrophy - See Fish-eye disease
- Dysmorphic facial features and multiple structural abnormalities - See Thakker-Donnai syndrome
- Dysmorphism arthrogryposis skeletal maturation advanced - See Spondylometaphyseal dysplasia, Kozlowski type
- Dysmorphism cleft palate loose skin
- Dysmorphism multiple structural anomalies - See Thakker-Donnai syndrome
- Dysmorphism, corpus callosum agenesis and colobomas - See Temtamy syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome - See Guizar Vasquez Sanchez Manzano syndrome
- Dysodontogenic epithelial tumor - See Craniopharyngioma
- Dysosteosclerosis
- Dysostosis acral with facial and genital abnormalities
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type - See Schwartz Jampel syndrome
- Dysostosis peripheral
- Dysostosis Stanescu type - See Craniofacial dysostosis with diaphyseal hyperplasia
- Dysphagia sideropenica - See Plummer Vinson syndrome
- Dysplasia cleidocranial - See Cleidocranial dysplasia
- Dysplasia epiphysealis hemimelica
- Dysplasia epiphysealis hemimelica with chondromas and osteochondromas - See Carpotarsal osteochondromatosis
- Dysplasia gigantism syndrome, X-linked - See Simpson-Golabi-Behmel syndrome
- Dysplasia of nails with hypodontia - See Witkop syndrome
- Dysplasia olfactogenitalis of De Morsier (formerly) - See Kallmann syndrome
- Dysplastic cortical hyperostosis
- Dysplastic gangliocytoma of the cerebellum - See Lhermitte-Duclos disease
- Dyspraxia - See Apraxia
- Dysprothrombinemia - See Prothrombin deficiency
- Dysraphism - See Neural tube defects - not a rare disease
- Dysraphism, cleft lip/palate, limb reduction defects - See Medeira-Dennis-Donnai syndrome
- Dyssegmental dwarfism Rolland-Desbuquois type - See Dyssegmental dysplasia Rolland-Desbuquois type
- Dyssegmental dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker type
- Dyssegmental dysplasia and glaucoma
- Dyssegmental dysplasia Rolland-Desbuquois type
- Dyssegmental dysplasia Silverman-Handmaker type
- Dyssynergia cerebellaris myoclonica
- Dyssynergia Cerebellaris Progressiva - See Dyssynergia cerebellaris myoclonica
- Dystelephalangy
- Dystonia 1 - See DYT-TOR1A
- Dystonia 1, torsion, autosomal dominant - See DYT-TOR1A
- Dystonia 10 - See Paroxysmal kinesigenic choreoathetosis
- Dystonia 11 - See Myoclonus-dystonia
- Dystonia 12 - See Rapid-onset dystonia-parkinsonism
- Dystonia 18 - See Paroxysmal exertion-induced dyskinesia
- Dystonia 2, torsion, autosomal recessive
- Dystonia 20, Childhood-Onset - See MEPAN syndrome
- Dystonia 3, torsion, X-linked - See X-linked dystonia-parkinsonism/Lubag
- Dystonia 5 - See Dopa-responsive dystonia
- Dystonia 6 - See DYT-THAP1
- Dystonia familial, with visual failure and striatal lucencies - See Leber hereditary optic neuropathy with dystonia
- Dystonia musculorum deformans 1 - See DYT-TOR1A
- Dystonia musculorum deformans 4 - See DYT-TUBB4A
- Dystonia musculorum deformans type 2 - See Dystonia 2, torsion, autosomal recessive
- Dystonia, alcohol responsive - See Myoclonus-dystonia
- Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities - See MEPAN syndrome
- Dystonia, DOPA responsive, autosomal recessive - See Tyrosine hydroxylase deficiency
- Dystonia, juvenile-onset - See Juvenile-onset dystonia
- Dystonia, progressive, with diurnal variation - See Dopa-responsive dystonia
- Dystonia-11, myoclonic - See Myoclonus-dystonia
- Dystonia-16 - See DYT-PRKRA
- Dystonia-25 - See DYT-GNAL
- Dystonia-28 - See DYT-KMT2B
- Dystonia-Parkinsonism with diurnal fluctuation - See Dopa-responsive dystonia
- DYSTONIA-PARKINSONISM, ADULT-ONSET - See NBIA/DYT/PARK-PLA2G6
- Dystonia-parkinsonism, Paisan-Ruiz type - See NBIA/DYT/PARK-PLA2G6
- Dystonia-Parkinsonism, X-linked - See X-linked dystonia-parkinsonism/Lubag
- Dystroglycanopathy - See Congenital muscular dystrophy
- Dystrophia myotonica - See Myotonic dystrophy
- Dystrophia myotonica type 1 - See Myotonic dystrophy type 1
- Dystrophia myotonica type 2 - See Myotonic dystrophy type 2
- Dystrophia retinae pigmentosa-dysostosis syndrome - See Usher syndrome
- Dystrophic epidermolysis bullosa
- Dystrophic epidermolysis bullosa, autosomal dominant - See Dominant dystrophic epidermolysis bullosa
- Dystrophinopathy
- Dystrophy osseous sclerosing mixed - See MSBD syndrome
- DYT/PARK-GCH1
- DYT1 - See DYT-TOR1A
- DYT1 Early-Onset Isolated Dystonia - See DYT-TOR1A
- DYT11 - See Myoclonus-dystonia
- DYT12 - See Rapid-onset dystonia-parkinsonism
- DYT16 - See DYT-PRKRA
- DYT18 - See Paroxysmal exertion-induced dyskinesia
- DYT2 - See Dystonia 2, torsion, autosomal recessive
- DYT25 - See DYT-GNAL
- DYT28 - See DYT-KMT2B
- DYT29 - See MEPAN syndrome
- DYT3 - See X-linked dystonia-parkinsonism/Lubag
- DYT4 - See DYT-TUBB4A
- DYT5 - See Dopa-responsive dystonia
- DYT6 - See DYT-THAP1
- DYT-ATP1A3 - See Rapid-onset dystonia-parkinsonism
- DYT-GCH1 - See DYT/PARK-GCH1
- DYT-GCH1 (subtype) - See Dopa-responsive dystonia
- DYT-GNAL
- DYT-KMT2B
- DYT-MR-1 - See Paroxysomal nonkinesigenic dyskinesia
- DYTOABG - See MEPAN syndrome
- DYT-PRKRA
- DYT-PRRT2 - See Paroxysmal kinesigenic choreoathetosis
- DYT-SGCE - See Myoclonus-dystonia
- DYT-SLC2A1 - See Paroxysmal exertion-induced dyskinesia
- DYT-SPR (subtype) - See Dopa-responsive dystonia
- DYT-TAF1 - See X-linked dystonia-parkinsonism/Lubag
- DYT-TH (subtype) - See Dopa-responsive dystonia
- DYT-THAP1
- DYT-TOR1A
- DYT-TOR1A dystonia - See DYT-TOR1A
- DYT-TUBB4A
sábado, 26 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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