Wanted disease related articles
- AIDS dementia complex
- ATR-X
- Aarskog–Ose–Pande syndrome
- Abdominal defects
- Abdominal musculature absent microphthalmia joint laxity
- Acanthocytosis chorea
- Achalasia alacrimia syndrome
- Achalasia, familial esophageal
- Acitretine antenatal infection
- Acoustic schwannomas
- Acquired central hypoventilation syndrome
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Acyl-CoA dehydrogenase, short chain, deficiency of
- Acyl-CoA dehydrogenase, very long chain, deficiency of
- Adrenal disorder
- Adrenal gland hyperfunction
- Adrenal hypertension
- Adult syndrome
- Agnosia, primary visual
- Ahumada-Del Castillo syndrome
- Alagille–Watson syndrome (AWS)
- Albers–Schonberg disease
- Alopecia contractures dwarfism mental retardation
- Alport syndrome, dominant type
- Alport syndrome, recessive type
- Amaurosis congenita of Leber
- Amaurosis congenita of Leber, type 1
- Amaurosis congenita of Leber, type 2
- Amelia cleft lip palate hydrocephalus iris coloboma
- Amnesic shellfish poisoning
- Anemia, Diamond–Blackfan
- Anemia, hypoplastic, congenital
- Anemia, pernicious
- Aneurysm, intracranial berry
- Aniridia absent patella
- Aniridia ataxia renal agenesis psychomotor retardation
- Aniridia cerebellar ataxia mental deficiency
- Aniridia type 2
- Aniridia, sporadic
- Anophthalmos, clinical
- Anorectal atresia
- Anorectal malformation
- Antithrombin deficiency, congenital
- Aortic window
- Apiphobia
- Apraxia, Ideomotor
- Arc syndrome
- Arrythmogenic right ventricular dysplasia, familial
- Arthritis, juvenile
- Arthrogryposis ectodermal dysplasia other anomalies
- Arthrogryposis multiplex congenita, distal type 1
- Arthrogryposis multiplex congenita, distal type 2
- Arthrogryposis multiplex congenita, distal, x-linked
- Autoimmune peripheral neuropathy
- Avian Flu
- B-cell lymphomas
- BANF acoustic neurinoma
- Balo disease
- Balo's concentric sclerosis
- Bannayan–Zonana syndrome
- Bartsocas–Papas syndrome
- Basal ganglia diseases
- Bathophobia
- Batrachophobia
- Becker disease
- Beemer–Langer syndrome
- Berardinelli–Seip congenital lipodystrophy
- Berlin breakage syndrome
- Bickel Fanconi glycogenosis
- Bilateral renal agenesis dominant type
- Biliary atresia, extrahepatic
- Blepharo naso facial syndrome Van maldergem type
- Blepharophimosis, ptosis, epicanthus inversus
- Bone fragility craniosynostosis proptosis hydrocephalus
- Bone tumor (generic term)
- Bonnevie–Ullrich–Turner syndrome
- Bourneville's disease
- Brachman-de Lange syndrome
- Brachydactyly Smorgasbord type
- Brachydactyly clinodactyly
- Brachydactyly type A5 nail dysplasia
- Brachymesophalangy 2 and 5
- Bronchitis, Chronic
- CATCH 22 syndrome
- CDG syndrome
- CDG syndrome type 1A
- CHILD syndrome ichthyosis
- Cacchi–Ricci disease
- Camfak syndrome
- Cannabis withdrawal
- Carbohydrate deficient glycoprotein syndrome
- Carcinophobia
- Cardiomyopathy, familial hypertrophic
- Caregiver syndrome
- Cayler syndrome
- Centronuclear myopathy (including myotubular myopathy)
- Centronuclear myopathy (including myotubular myopathy)
- Centronuclear myopathy (including myotubular myopathy)
- Cerebral amyloid angiopathy, familial
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral ventricle neoplasms
- Cerebro facio articular syndrome
- Ceroid lipofuscinois, neuronal 1, infantile
- Ceroid lipofuscinois, neuronal 2, late infantile
- Ceroid lipofuscinois, neuronal 3, juvenile
- Ceroid lipofuscinois, neuronal 4, adult type
- Ceroid lipofuscinois, neuronal 5, late infantile
- Ceroid lipofuscinois, neuronal 6, late infantile
- Chanarin–Dorfman syndrome ichthyosis
- Chang–Davidson–Carlson syndrome
- Chavany–Brunhes syndrome
- Chediak–Higashi syndrome
- Chen-Kung Ho–Kaufman–Mcalister syndrome
- Chiari type 1 malformation
- Childhood pustular psoriasis
- Cholestasis, progressive familial intrahepatic
- Cholestasis, progressive familial intrahepatic 1
- Cholestasis, progressive familial intrahepatic 2
- Cholestasis, progressive familial intrahepatic 3
- Chondrocalcinosis familial articular
- Chondrodysplasia punctata 1, x-linked recessive
- Chondrodysplasia punctata, brachytelephalangic
- Chondromalacia
- Chorea minor
- Choreoathetosis familial paroxysmal
- Choroiditis, serpiginous
- Chromophobe renal carcinoma
- Chromosome 1, 1p36 deletion syndrome
- Chromosome 15q, partial deletion
- Chromosome 18, trisomy
- Chromosome 2, monosomy 2q37
- Chromosome 20 ring
- Chronic, infantile, neurological, cutaneous, articular syndrome
- Churg–Strauss syndrome
- Cleft lip with or without cleft palate
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cogan–Reese syndrome
- Cold agglutination syndrome
- Cold antibody hemolytic anemia (disambiguation)
- Cole carpenter syndrome
- Collagen disorder
- Colon cancer, familial nonpolyposis
- Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
- Congenital antithrombin III deficiency
- Congenital constricting band
- Congenital cystic adenomatoid malformation
- Congenital ichtyosiform erythroderma
- Congenital megaloureter
- Congenital short bowel
- Congenital spherocytic anemia
- Congenital spherocytic hemolytic anemia
- Constrictive bronchiolitis
- Costal chondritis
- Cote–Adamopoulos–Pantelakis syndrome
- Cousin–Walbraum–Cegarra syndrome
- Covesdem syndrome
- Cowchock–Wapner–Kurtz syndrome
- Creatine deficiency
- Creeping disease
- Crystal deposit disease
- Cutaneous vascularitis
- Cutis laxa corneal clouding mental retardation
- Cutis laxa with joint laxity and retarded development
- Cutis laxa, dominant type
- Cutis laxa, recessive
- Cutis laxa, recessive type 1
- Cutis laxa, recessive type 2
- Cystin transport, protein defect of
- Cytochrome C oxidase deficiency
- Dandy–Walker syndrome
- Death anxiety
- Deciduous skin
- Decompensated phoria
- Dentin dysplasia, radicular
- Der Kaloustian–Jarudi–Khoury syndrome
- Dermatoosteolysis, Kirghizian type
- Dermatophytids
- Desbuquois Syndrome
- 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
- Diarrheal shellfish poisoning
- Disaccharide intolerance iii
- Disinhibited attachment disorder
- Donnai Barrow syndrome
- Double cortex
- Dust-induced lung disease
- Dysencephalia splachnocystica or Meckel–Gruber
- Dyserythropoietic anemia, congenital
- Dyserythropoietic anemia, congenital type 1
- Dyserythropoietic anemia, congenital type 2
- Dyserythropoietic anemia, congenital type 3
- Dysphonia, chronic spasmodic
- Eec syndrome without cleft lip palate
- Eem syndrome
- Egg hypersensitivity
- Ekbom syndrome (disambiguation)
- Encephalomyelitis, myalgic
- Encephalotrigeminal Angiomatosis
- Enchondromatosis (benign)
- Enetophobia
- Envenomization by bothrops lanceolatus
- Envenomization by the Martinique lancehead viper
- Epimerase deficiency
- Erb–Duchenne palsy
- Erythroblastopenia (disambiguation)
- Erythrokeratodermia ataxia
- Erythrokeratodermia variabilis, Mendes da Costa type
- Erythrokeratolysis hiemalis ichthyosis
- Essential iris atrophy
- Essential mixed cryoglobulinemia
- Ethylmalonic aciduria
- Ethylmalonic adipic aciduria
- Eunuchoidism familial
- Exercise induced anaphylaxis
- Exner syndrome
- Extrapyramidal disorder
- Eye movement (sensory)#Disorders
- Faces syndrome
- Facial dysmorphism shawl scrotum joint laxity syndrome
- Facial paralysis
- Familial Treacher–Collins syndrome
- Familial cold autoinflamatory syndrome (FCAS)
- Familial hyperchylomicronemia
- Familial hyperlipoproteinemia type III
- Familial hyperlipoproteinemia type IV
- Familial hypersensitivity pneumonitis
- Familial intestinal polyatresia syndrome
- Familial nasal acilia
- Fanconi anemia type 1
- Fanconi anemia type 2
- Fanconi anemia type 3
- Fanconi syndrome, renal, with nephrocalcinosis and renal stones
- Fazio–Londe syndrome
- Ferrocalcinosis cerebro vascular
- Fetal methyl mercury syndrome
- Fibrolipomatosis
- Flavimonas oryzihabitans
- Fluorosis (disambiguation)
- Follicular ichthyosis
- Forbes–Albright syndrome
- Froelich's syndrome
- Frontonasal dysplasia Klippel–Feil syndrome
- Fructose-1-phosphate aldolase deficiency, heredita
- Fructosemia, hereditary
- Fukuyama-type muscular dystrophy
- Fumaric aciduria
- Galactosamine-6-sulfatase deficiency
- Gangliosidosis (Type2)(GM2)
- Gangliosidosis type1
- Gas/bloat syndrome
- Gastrointestinal neoplasm
- Gemss syndrome
- Genetic diseases, inborn
- Genital retraction syndrome
- Genuphobia
- Genée-Wiedemann syndrome
- German syndrome
- Gianotti-Crosti syndrome
- Giant congenital nevi
- Glaucoma, primary infantile type 3B
- Gloomy face syndrome
- Glucocorticoid deficiency, familial
- Glutaricaciduria I
- Glutaricaciduria II
- Glycogen storage disease type 1C
- Glycogen storage disease type 6, due to phosphorylation
- Glycogen storage disease type 9
- Glycogen storage disease type VIII
- Glycogenosis type III
- Glycogenosis type V
- Glycogenosis type VI
- Glycogenosis type VIII
- Glycogenosis, type 0
- Gomez and López-Hernández syndrome
- Gonadal dysgenesis, XY female type
- Gordon Syndrome
- Gottron's syndrome
- Granulomatosis, lymphomatoid
- Greenberg dysplasia
- Gyrate atrophy of the choroid and retina
- Gyrate atrophy of the retina
- HIV dementia
- HSV-2 infection
- Hageman factor deficiency
- Hamartoma sebaceus of Jadassohn
- Hand wringing Rett syndrome
- Hand–foot–uterus syndrome
- Harlequin type ichthyosis
- Harpaxophobia
- Hashimoto struma
- Headache, cluster
- Heart aneurysm
- Heart hypertrophy, hereditary
- Heart situs anomaly
- Heart tumor of the adult
- Heart tumor of the child
- Hemiplegic migraine, familial
- Hemochromatosis type 1
- Hemophobia
- Hepadnovirus D
- Hepatic venoocclusive disease
- Hereditary breast—ovarian cancer syndrome
- Hereditary carnitine deficiency
- Hereditary carnitine deficiency myopathy
- Hereditary ceroid lipofuscinosis
- Hereditary hearing disorder
- Hereditary hearing loss
- Hereditary hyperuricemia
- Hereditary methemoglobinemia, recessive
- Hereditary non-spherocytic hemolytic anemia
- Hereditary peripheral nervous disorder
- Hereditary primary Fanconi disease
- Hereditary sensory and autonomic neuropathy 3
- Hereditary sensory and autonomic neuropathy 4
- Herpes simplex disease
- Herpes viridae disease
- Herpetic keratitis
- Hers' disease
- Heterophobia
- Heterotaxia (generic term)
- High scapula
- Hip dysplasia (human)
- Hip luxation
- Histadelia
- Histapenia
- Histiocytosis, Non-Langerhans-Cell
- Hm syndrome
- Holmes–Gang syndrome
- Homocystinuria due to cystathionine beta-synthase
- Horn–Kolb syndrome
- Horton disease, juvenile
- Hutchinson–Gilford–Progeria syndrome
- Hydrocephalus - Arnold Chiari - allied disorders
- Hyper IgE
- Hyper-reninism
- Hyperaldosteronism familial type 2
- Hyperimmunoglobinemia D with recurrent fever
- Hyperimmunoglobinemia D with recurrent fever
- Hyperimmunoglobulinemia E
- Hyperinsulinism in children, congenital
- Hyperinsulinism, focal
- Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
- Hyperostosis Corticalis Generalisata
- Hyperoxaluria type 1
- Hypertrichosis lanuginosa congenita
- Hypertriglycidemia
- Hypobetalipoprotéinemia, familial
- Hypodontia of incisors and premolars
- Hypokalemic periodic paralysis type 1
- Hypomentia
- Hypopituitary dwarfism
- Ichthyophobia
- Ichthyosis deafness mental retardation skeletal anomaly
- Ichthyosis, Netherton syndrome
- Idiopathic hypercalcinuria
- Iduronate 2-sulfatase deficiency
- Inborn metabolic disorder
- Incisors fused
- Indomethacin antenatal infection
- Infantile sialic acid storage disorder
- Intestinal pseudoobstruction chronic idiopathic
- Intracranial arteriovenous malformations
- Intrauterine infections
- Iodine antenatal infection
- Iophobia
- Isosporosiasis
- Isotretinoin embryopathy
- Jankovic–Rivera syndrome
- Jarcho–Levin syndrome
- Juberg–Marsidi syndrome
- Karsch–Neugebauer syndrome
- Ki-1cell lymphoma
- King–Denborough syndrome
- Klippel–Feil syndrome dominant type
- Klippel–Feil syndrome recessive type
- Kobberling–Dunnigan syndrome
- Kounis syndrome
- Krause–Kivlin syndrome
- L-transposition and ccTGA
- LGCR
- Lambert–Eaton syndrome
- Lamellar recessive ichthyosis
- Landouzy–Dejerine muscular dystrophy
- Langdon Down
- Large B-cell diffuse lymphoma
- Lattice corneal dystrophy type 2
- Launois–Bensaude adenolipomatosis
- Leber's disease
- Legg–Calvé–Perthes syndrome
- Lenz–Majewski hyperostotic dwarfism
- Levine–Crichley syndrome
- Light chain disease
- Lissencephaly, isolated
- Lutz–Lewandowsky epidermodysplasia verruciformis
- LyP (lymphomatoid papulosis)
- Lygophobia
- Lymphedema hereditary type 1
- Lymphedema hereditary type 2
- Lymphoma, AIDS-related
- Lymphoma, small cleaved-cell, diffuse
- Lymphoma, small cleaved-cell, follicular
- Lymphomatoid Papulosis (LyP)
- MPS III-A
- MPS III-B
- MPS III-C
- MPS III-D
- MRKH Syndrome
- MTHFR deficiency
- Macrocephaly cutis marmorata telangiectatica
- Macroglossia exomphalos gigantism
- Macrothrombocytopenia with leukocyte inclusions
- Macular dystrophy, vitelliform
- Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency
- Marburg fever
- Marfan Syndrome type II
- Marfanoid hypermobility
- Mayer–Rokitanski–Kuster syndrome
- McArdle disease
- Medium-chain Acyl-CoA dehydrogenase deficiency
- Medullary cystic disease
- Mega-epiphyseal dwarfism
- Mental retardation, X linked, Marfanoid habitus
- Metastatic Insulinoma
- Methimazole antenatal infection
- Methyl mercury antenatal infection
- Meyenburg–Altherr–Uehlinger syndrome
- Microphthalmia, Lentz type
- Miculicz syndrome
- Mitochondrial myopathy-encephalopathy-lactic acidosis
- Mitral valve prolapse, familial, X linked
- Moeschler–Clarren syndrome
- Mohr syndrome
- Monge's disease
- Morphea, generalized
- Morse–Rawnsley–Sargent syndrome
- Motor neuropathy
- Motor sensory neuropathy type 1 aplasia cutis congenita
- Mount–Reback syndrome
- Mucolipidosis type 3
- Mucopolysaccharidosis type I Hurler syndrome
- Mucopolysaccharidosis type I Hurler/Scheie syndrome
- Mucopolysaccharidosis type I Scheie syndrome
- Mucopolysaccharidosis type II Hunter syndrome- mild form
- Mucopolysaccharidosis type II Hunter syndrome- severe form
- Mucopolysaccharidosis type IV-A Morquio syndrome
- Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate
- Mucopolysaccharidosis type VII Sly syndrome
- Multifocal ventricular premature beats
- Multiple organ failure
- Muscle-eye-brain syndrome
- Muscular dystrophy, Duchenne and Becker type
- Muscular dystrophy, facioscapulohumeral
- Myalgia eosinophilia associated with tryptophan
- Myasthenia, familial
- Mycobacterium avium complex infection
- Mycosis fungoides, familial
- Mycositis fungoides
- Myelofibrosis, idiopathic
- Myoadenylate deaminase deficiency
- Myocardium disorder
- Myoclonic epilepsy with ragged red fibres
- Myofibroblastic tumors
- Myophosphorylase deficiency
- Müllerian aplasia
- Münchausen syndrome by proxy
- Neural tube defect, folate-sensitive
- Neural tube defects X linked
- Neuraminidase beta-galactosidase deficiency
- Neuroaxonal dystrophy, late infantile
- Neurofibromatosis, Type IV, of Riccardi
- Nevus sebaceus of Jadassohn
- Niemann-Pick disease type D
- Niemann–Pick C1 disease
- Niemann–Pick C2 disease
- Norman–Roberts lissencephaly syndrome
- Nystagmus with congenital zonular cataract
- Ockelbo disease
- Ocular histoplasmosis
- Oculo dento digital dysplasia
- Oculo facio cardio dental syndrome
- Oculo-auriculo-vertebral dysplasia
- Oligophernia
- Omodysplasia type 2
- Ophthalmophobia
- Opioid dependence
- Opitz syndrome
- Oral facial digital syndrome
- Oral facial digital syndrome type 3
- Orotic aciduria hereditary
- Orotic aciduria purines-pyrimidines
- Osebold–Remondini syndrome
- Osmed syndrome
- Osteoglophonic dwarfism
- Otofaciocervical syndrome
- PIRA
- Pachyonychia congenita Jackson–Lawler type
- Palmitoyl-protein thioesterase deficiency
- Panthophobia
- Parasitophobia
- Paroxysmal dystonic choreoathetosis
- Partial agenesis of corpus callosum
- Parturiphobia
- Passive-aggressive personality disorder
- Pemphigus vulgaris, familial
- Perceptual disorder
- Pericardial constriction with growth failure
- Perilymphatic fistula
- Peripheral nervous disorder
- Pharmacophobia
- Phenylketonuria type II
- Phenylketonuric embryopathy
- Phocomelia syndrome
- Phosphoglucomutase deficiency
- Phosphomannoisomerase deficiency
- Phytanic acid oxidase deficiency
- Pie Torcido
- Pierre Marie cerebellar ataxia
- Pili canulati
- Pitt–Rogers–Danks syndrome
- Pituitary dwarfism 1
- Platelet disorder
- Pneumonia, eosinophilic
- Poikiloderma congenital with bullae Weary type
- Poikiloderma hereditary acrokeratotic Weary type
- Poikiloderma of Rothmund–Thomson
- Polyarthritis, systemic
- Polycystic kidney disease, adult type
- Polycystic kidney disease, recessive type
- Polycystic kidney disease, type 1
- Polycystic kidney disease, type 2
- Polycystic kidney disease, type 3
- Polycystic ovarian disease, familial
- Polydactyly postaxial
- Polydactyly preaxial type 1
- Polyglucosan body disease, adult
- Polyomavirus Infections
- Polyposis, hamartomatous intestinal
- Porphyria cutanea tarda, familial type
- Porphyria cutanea tarda, sporadic type
- Porphyria, Ala-D
- Porphyria, hereditary coproporphyria
- Portal thrombosis
- Portuguese type amyloidosis
- Positive rheumatoid factor polyarthritis
- Posterior tibial tendon rupture
- Posterior valve urethra
- Potter disease type 1
- Potter disease, type 3
- Potter syndrome dominant type
- Poxviridae disease
- Precocious puberty, gonadotropin-dependent
- Pregnancy toxemia /hypertension
- Premature aging
- Primary craniosynostosis
- Primary granulocytic sarcoma
- Primary malignant lymphoma
- Primary muscular atrophy
- Primary tubular proximal acidosis
- Primerose syndrome
- Primordial microcephalic dwarfism Crachami type
- Prinzmetal's variant angina
- Proconvertin deficiency, congenital
- Progeroid syndrome De Barsy type
- Promoter (biology)
- Protein–energy malnutrition
- Proximal spinal muscular atrophy
- Pseudo-Gaucher disease
- Psychophysiologic disorders
- Pterygium (eye)
- Ptosis (disambiguation)
- Pulmonary fibrosis /granuloma
- Pulmonary hypertension, secondary
- Purpura, Schönlein–Henoch
- Purpura, thrombotic thrombocytopenic
- Pyridoxine deficit
- Pyrimidinemia familial
- Quincke's edema
- Radiation syndromes
- Radio-ulnar synostosis type 2
- Rambam Hasharon syndrome
- Reactive attachment disorder of early childhood
- Reactive attachment disorder of infancy
- Rectal neoplasm
- Rectosigmoid neoplasm
- Reifenstein syndrome
- Renal dysplasia limb defects
- Renal dysplasia mesomelia radiohumeral fusion
- Renal tubular acidosis, distal
- Respiratory distress syndrome, adult
- Retina disorder
- Retinopathy, diabetic
- Retinoschisis, X-linked
- Retinoschisis, juvenile
- Rhabdomyosarcoma, alveolar
- Rhabdomyosarcoma, embryonal
- Romberg hemi-facial atrophy
- Rosenberg–Chutorian syndrome
- Roussy–Levy hereditary areflexic dystasia
- SSADH (succinic semialdehyde dehydrogenase deficiency)
- SSPE (subacute sclerosing panencephalitis)
- Sacral defect anterior sacral meningocele
- Saito-Kuba-Tsuruta syndrome
- Sakati syndrome
- Salivary disorder
- Sarcoma, granulocytic
- Schamberg's disease pigmentation disorder
- Schinzel syndrome
- Scoliosis as part of NF
- Seafood poisoning
- Sex chromosome disorders (disambiguation)
- Shaver's disease
- Short rib-polydactyly syndrome, Beermer type
- Short rib-polydactyly syndrome, Saldino-Noonan type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Short syndrome
- Shwachman–Bodian–Diamond syndrome
- Shy–Drager syndrome
- Sialidosis type 1 and 3
- Sialuria, French type
- Sideroblastic anemia, autosomal
- Skin peeling syndrome
- Smith–Martin–Dodd syndrome
- Spastic paraplegia type 1, X-linked
- Spastic paraplegia type 2, X-linked
- Spastic paraplegia type 3, dominant
- Spastic paraplegia type 4, dominant
- Spastic paraplegia type 5A, recessive
- Spastic paraplegia type 5B, recessive
- Spastic paraplegia type 6, dominant
- Spastic paraplegia, familial
- Spielmeyer–Vogt disease
- Spinal muscular atrophy with pontocerebellar hypoplasia
- Spinal muscular atrophy with respiratory distress type 1
- Spleen neoplasm
- Split-hand deformity
- Spondyloepiphyseal dysplasia, congenital type
- Spondylometaphyseal dysplasia
- St. Anthony's fire (disambiguation)
- Stein–Leventhal syndrome
- Stickler syndrome, type 1
- Stomach cancer, familial
- Stratton–Parker syndrome
- Streptococcus, Group B
- Strudwick syndrome
- Strumpell–Lorrain disease
- Strychnine poisoning
- Stuccokeratosis
- Subacute sclerosing leucoencephalitis
- Sucrase-isomaltase deficiency
- Syncopal tachyarythmia
- Syndactyly type 2
- Synovial cancer
- Synovialosarcoma
- Syphilis embryopathy
- Syringomas
- T-Lymphocytopenia
- Taybi–Linder syndrome
- Temporomandibular joint dysfunction (TMJ)
- Tethered spinal cord disease
- Thalamic syndrome
- Thiolase deficiency
- Thymus neoplasm
- Todd's syndrome
- Toluene antenatal infection
- Toni–Fanconi syndrome
- Touraine–Solente–Golé syndrome
- Toxoplasmosis, congenital
- Transplacental infections
- Triatrial heart
- Trichofolliculloma
- Trichomalacia
- Triplo X Syndrome
- Trophoblastic Neoplasms (gestational trophoblastic disease)
- Trueb–Burg–Bottani syndrome
- Trypanophobia
- Tuberous Sclerosis, type 1
- Tuberous Sclerosis, type 2
- Tucker syndrome
- Turner–Kieser syndrome
- Ulbright–Hodes syndrome
- Upshaw–Schülman syndrome
- Urban–Schosser–Spohn syndrome
- Uridine monophosphate synthetase deficiency
- Valinemia
- Van Maldergem–Wetzburger–Verloes syndrome
- Varadi–Papp syndrome
- Vas deferens, congenital bilateral aplasia of
- Vein of Galen aneurysmal dilatation
- Velopharyngeal incompetence
- Vertical talus
- Von Recklinghausen disease
- Waardenburg anophthalmia syndrome
- Wagner–Stickler syndrome
- Warburg–Thomsen syndrome
- Warman–Mulliken–Hayward syndrome
- Weber–Sturge–Dimitri syndrome
- Weismann–Netter–Stuhl syndrome
- Weissenbacher–Zweymuller syndrome
- Werdnig–Hoffmann disease
- Westerhof–Beemer–Cormane syndrome
- Wheat hypersensitivity
- Whitaker syndrome
- Woolly hair autosomal recessive
- Wooly hair syndrome
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Contributors: Prab R. Tumpati, MD