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1

  • 10q26 deletion syndrome
  • 15q11-q13 duplication syndrome
  • 15q13.3 microdeletion
  • 15q24 microdeletion
  • 16p11.2 deletion syndrome
  • 16p11.2 duplication
  • 16p12.2 microdeletion
  • 17 alpha-hydroxylase/17,20-lyase deficiency
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • 17q12 deletion syndrome
  • 17q12 duplication
  • 19p13.13 deletion syndrome
  • 1p36 deletion syndrome
  • 1q21.1 microdeletion
  • 1q21.1 microduplication

2

  • 21-hydroxylase deficiency
  • 22q11.2 deletion syndrome
  • 22q11.2 duplication
  • 22q13.3 deletion syndrome
  • 2-hydroxyglutaric aciduria
  • 2q37 deletion syndrome

3

  • 3-beta-hydroxysteroid dehydrogenase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • 3-hydroxyacyl-CoA dehydrogenase deficiency
  • 3MC syndrome
  • 3-methylcrotonyl-CoA carboxylase deficiency
  • 3-methylglutaconyl-CoA hydratase deficiency
  • 3-M syndrome
  • 3p deletion syndrome
  • 3q29 microdeletion syndrome
  • 3q29 microduplication syndrome

4

  • 46,XX testicular difference of sex development
  • 47,XYY syndrome
  • 48,XXXY syndrome
  • 48,XXYY syndrome
  • 49,XXXXY syndrome

5

  • 5-alpha reductase deficiency
  • 5q31.3 microdeletion syndrome
  • 5q minus syndrome

6

  • 6q24-related transient neonatal diabetes mellitus

7

  • 7q11.23 duplication syndrome

8

  • 8p11 myeloproliferative syndrome

9

  • 9q22.3 microdeletion

A

  • Aarskog-Scott syndrome
  • Abdominal wall defect
  • Abetalipoproteinemia
  • ACAD9 deficiency
  • Acatalasemia
  • Aceruloplasminemia
  • Achondrogenesis
  • Achondroplasia
  • Achromatopsia
  • Acrocallosal syndrome
  • Acromicric dysplasia
  • Actin-accumulation myopathy
  • Action myoclonus–renal failure syndrome
  • Activated PI3K-delta syndrome
  • Acute necrotizing encephalopathy type 1
  • Acute promyelocytic leukemia
  • Adams-Oliver syndrome
  • ADCY5-related dyskinesia
  • Adenine phosphoribosyltransferase deficiency
  • Adenosine deaminase 2 deficiency
  • Adenosine deaminase deficiency
  • Adenosine monophosphate deaminase deficiency
  • Adenylosuccinate lyase deficiency
  • Adermatoglyphia
  • Adiposis dolorosa
  • ADNP syndrome
  • Adolescent idiopathic scoliosis
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Adult polyglucosan body disease
  • African iron overload
  • Age-related hearing loss
  • Age-related macular degeneration
  • Aicardi-Goutières syndrome
  • Aicardi syndrome
  • Alagille syndrome
  • Alcohol use disorder
  • Aldosterone-producing adenoma
  • Alexander disease
  • ALG12-congenital disorder of glycosylation
  • ALG1-congenital disorder of glycosylation
  • ALG6-congenital disorder of glycosylation
  • Alkaptonuria
  • Allan-Herndon-Dudley syndrome
  • Allergic asthma
  • Alopecia areata
  • Alpers-Huttenlocher syndrome
  • Alpha-1 antitrypsin deficiency
  • Alpha-mannosidosis
  • Alpha-methylacyl-CoA racemase deficiency
  • Alpha thalassemia
  • Alpha thalassemia X-linked intellectual disability syndrome
  • Alport syndrome
  • Alström syndrome
  • Alternating hemiplegia of childhood
  • Alveolar capillary dysplasia with misalignment of pulmonary veins
  • Alzheimer's disease
  • Amelogenesis imperfecta
  • Aminoacylase 1 deficiency
  • Amish lethal microcephaly
  • Amyotrophic lateral sclerosis
  • Anauxetic dysplasia
  • Andermann syndrome
  • Andersen-Tawil syndrome
  • Androgenetic alopecia
  • Androgen insensitivity syndrome
  • Anencephaly
  • Angelman syndrome
  • Anhidrotic ectodermal dysplasia with immune deficiency
  • Aniridia
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  • Ankylosing spondylitis
  • Ankyrin-B syndrome
  • Anonychia congenita
  • Antiphospholipid syndrome
  • Apert syndrome
  • Arginase deficiency
  • Arginine:glycine amidinotransferase deficiency
  • Arginine vasopressin deficiency
  • Arginine vasopressin resistance
  • Argininosuccinic aciduria
  • Aromatase deficiency
  • Aromatase excess syndrome
  • Aromatic l-amino acid decarboxylase deficiency
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arterial tortuosity syndrome
  • Arts syndrome
  • Asparagine synthetase deficiency
  • Aspartylglucosaminuria
  • Asphyxiating thoracic dystrophy
  • Ataxia neuropathy spectrum
  • Ataxia-pancytopenia syndrome
  • Ataxia-telangiectasia
  • Ataxia with oculomotor apraxia
  • Ataxia with vitamin E deficiency
  • Atelosteogenesis type 1
  • Atelosteogenesis type 2
  • Atelosteogenesis type 3
  • Atopic dermatitis
  • Attention-deficit/hyperactivity disorder
  • Atypical hemolytic-uremic syndrome
  • Au-Kline syndrome
  • Auriculo-condylar syndrome
  • Autism spectrum disorder
  • Autoimmune Addison disease
  • Autoimmune lymphoproliferative syndrome
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
  • Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
  • Autosomal dominant congenital stationary night blindness
  • Autosomal dominant epilepsy with auditory features
  • Autosomal dominant hyper-IgE syndrome
  • Autosomal dominant hypocalcemia
  • Autosomal dominant leukodystrophy with autonomic disease
  • Autosomal dominant nocturnal frontal lobe epilepsy
  • Autosomal dominant optic atrophy and cataract
  • Autosomal dominant tubulointerstitial kidney disease-UMOD
  • Autosomal dominant vitreoretinochoroidopathy
  • Autosomal recessive axonal neuropathy with neuromyotonia
  • Autosomal recessive cerebellar ataxia type 1
  • Autosomal recessive congenital methemoglobinemia
  • Autosomal recessive congenital stationary night blindness
  • Autosomal recessive hypotrichosis
  • Autosomal recessive primary microcephaly
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Axenfeld-Rieger syndrome

B

  • Baller-Gerold syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
  • BAP1 tumor predisposition syndrome
  • Baraitser-Winter syndrome
  • Bardet-Biedl syndrome
  • Bare lymphocyte syndrome type I
  • Bare lymphocyte syndrome type II
  • Barth syndrome
  • Bart-Pumphrey syndrome
  • Bartter syndrome
  • Beare-Stevenson cutis gyrata syndrome
  • Beckwith-Wiedemann syndrome
  • Behçet disease
  • Benign essential blepharospasm
  • Benign familial neonatal seizures
  • Benign recurrent intrahepatic cholestasis
  • Bernard-Soulier syndrome
  • Beta-ketothiolase deficiency
  • Beta-mannosidosis
  • Beta-propeller protein-associated neurodegeneration
  • Beta thalassemia
  • Beta-ureidopropionase deficiency
  • Bietti crystalline dystrophy
  • Biotinidase deficiency
  • Biotin-thiamine-responsive basal ganglia disease
  • Bipolar disorder
  • Birt-Hogg-Dubé syndrome
  • Björnstad syndrome
  • Bladder cancer
  • Blau syndrome
  • Blepharocheilodontic syndrome
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome
  • Bloom syndrome
  • Bohring-Opitz syndrome
  • Boomerang dysplasia
  • Bosma arhinia microphthalmia syndrome
  • Boucher-Neuhäuser syndrome
  • Bowen-Conradi syndrome
  • Bradyopsia
  • Brain-lung-thyroid syndrome
  • Branchio-oculo-facial syndrome
  • Branchiootorenal/branchiootic syndrome
  • Breast cancer
  • Brody myopathy
  • Brugada syndrome
  • Bunion
  • Burn-McKeown syndrome
  • Buschke-Ollendorff syndrome

C

  • C3 glomerulopathy
  • Caffey disease
  • Campomelic dysplasia
  • Camurati-Engelmann disease
  • Canavan disease
  • Cantú syndrome
  • Capillary malformation-arteriovenous malformation syndrome
  • Cap myopathy
  • Carbamoyl phosphate synthetase I deficiency
  • Carbonic anhydrase VA deficiency
  • Cardiofaciocutaneous syndrome
  • Carney complex
  • Carnitine-acylcarnitine translocase deficiency
  • Carnitine palmitoyltransferase I deficiency
  • Carnitine palmitoyltransferase II deficiency
  • Carpal tunnel syndrome
  • Carpenter syndrome
  • Cartilage-hair hypoplasia
  • CASK-related intellectual disability
  • Catecholaminergic polymorphic ventricular tachycardia
  • CATSPER1-related nonsyndromic male infertility
  • Caudal regression syndrome
  • CAV3-related distal myopathy
  • CDKL5 deficiency disorder
  • Celiac disease
  • Central core disease
  • Central precocious puberty
  • Centronuclear myopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral cavernous malformation
  • Cerebral folate transport deficiency
  • Cerebro-facio-thoracic dysplasia
  • Cerebrotendinous xanthomatosis
  • Chanarin-Dorfman syndrome
  • Channelopathy-associated congenital insensitivity to pain
  • Charcot-Marie-Tooth disease
  • CHARGE syndrome
  • Char syndrome
  • CHD2 myoclonic encephalopathy
  • Chediak-Higashi syndrome
  • Cherubism
  • Childhood absence epilepsy
  • Childhood myocerebrohepatopathy spectrum
  • CHILD syndrome
  • CHMP2B-related frontotemporal dementia
  • Cholangiocarcinoma
  • CHOPS syndrome
  • Chordoma
  • Chorea-acanthocytosis
  • Choroideremia
  • Christianson syndrome
  • Chronic atrial and intestinal dysrhythmia
  • Chronic granulomatous disease
  • Chronic myeloid leukemia
  • CHST3-related skeletal dysplasia
  • Chylomicron retention disease
  • Citrullinemia
  • CLCN2-related leukoencephalopathy
  • Cleidocranial dysplasia
  • CLN10 disease
  • CLN11 disease
  • CLN1 disease
  • CLN2 disease
  • CLN3 disease
  • CLN4 disease
  • CLN5 disease
  • CLN6 disease
  • CLN7 disease
  • CLN8 disease
  • Clopidogrel resistance
  • Clouston syndrome
  • CLPB deficiency
  • Coats plus syndrome
  • Cockayne syndrome
  • Coffin-Lowry syndrome
  • Coffin-Siris syndrome
  • COG5-congenital disorder of glycosylation
  • Cohen syndrome
  • COL4A1-related brain small-vessel disease
  • Cold-induced sweating syndrome
  • Cole disease
  • Collagen VI-related dystrophy
  • Coloboma
  • Color vision deficiency
  • Combined malonic and methylmalonic aciduria
  • Combined oxidative phosphorylation deficiency 1
  • Combined pituitary hormone deficiency
  • Common variable immune deficiency
  • Complement component 2 deficiency
  • Complement component 8 deficiency
  • Complement factor I deficiency
  • Complete LCAT deficiency
  • Complete plasminogen activator inhibitor 1 deficiency
  • Cone-rod dystrophy
  • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
  • Congenital afibrinogenemia
  • Congenital anomalies of kidney and urinary tract
  • Congenital bilateral absence of the vas deferens
  • Congenital bile acid synthesis defect type 1
  • Congenital bile acid synthesis defect type 2
  • Congenital cataracts, facial dysmorphism, and neuropathy
  • Congenital central hypoventilation syndrome
  • Congenital contractural arachnodactyly
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia
  • Congenital diaphragmatic hernia
  • Congenital dyserythropoietic anemia
  • Congenital fiber-type disproportion
  • Congenital fibrosis of the extraocular muscles
  • Congenital generalized lipodystrophy
  • Congenital hepatic fibrosis
  • Congenital hyperinsulinism
  • Congenital hypothyroidism
  • Congenital insensitivity to pain with anhidrosis
  • Congenital leptin deficiency
  • Congenital mirror movement disorder
  • Congenital myasthenic syndrome
  • Congenital nephrotic syndrome
  • Congenital plasminogen deficiency
  • Congenital stromal corneal dystrophy
  • Congenital sucrase-isomaltase deficiency
  • Constitutional mismatch repair deficiency syndrome
  • Core binding factor acute myeloid leukemia
  • Cornelia de Lange syndrome
  • Corticosteroid-binding globulin deficiency
  • Corticosterone methyloxidase deficiency
  • Costeff syndrome
  • Costello syndrome
  • Cowden syndrome
  • Cranioectodermal dysplasia
  • Craniofacial-deafness-hand syndrome
  • Craniofacial microsomia
  • Craniofrontonasal syndrome
  • Craniometaphyseal dysplasia
  • Cri-du-chat syndrome
  • Crigler-Najjar syndrome
  • Critical congenital heart disease
  • Crohn's disease
  • Crouzon syndrome
  • Crouzon syndrome with acanthosis nigricans
  • Cryopyrin-associated periodic syndromes
  • Cryptogenic cirrhosis
  • CUL3-related neurodevelopmental disorder
  • Cushing disease
  • Cutis laxa
  • Cyclic neutropenia
  • Cyclic vomiting syndrome
  • CYLD cutaneous syndrome
  • Cystic fibrosis
  • Cystinosis
  • Cystinuria
  • Cytochrome c oxidase deficiency
  • Cytochrome P450 oxidoreductase deficiency
  • Cytogenetically normal acute myeloid leukemia

D

  • Dandy-Walker malformation
  • Danon disease
  • Darier disease
  • D-bifunctional protein deficiency
  • Deafness and myopia syndrome
  • Deafness-dystonia-optic neuronopathy syndrome
  • Deafness-infertility syndrome
  • Dementia with Lewy bodies
  • Dentatorubral-pallidoluysian atrophy
  • Dent disease
  • Dentinogenesis imperfecta
  • Denys-Drash syndrome
  • Deoxyguanosine kinase deficiency
  • Depression
  • Dermatofibrosarcoma protuberans
  • Desmoid tumor
  • Desmosterolosis
  • Developmental and epileptic encephalopathy 1
  • Diamond-Blackfan anemia
  • Diastrophic dysplasia
  • DICER1 syndrome
  • Dihydrolipoamide dehydrogenase deficiency
  • Dihydropyrimidinase deficiency
  • Dihydropyrimidine dehydrogenase deficiency
  • Dilated cardiomyopathy with ataxia syndrome
  • Distal 18q deletion syndrome
  • Distal arthrogryposis type 1
  • Distal hereditary motor neuropathy, type II
  • Distal hereditary motor neuropathy, type V
  • Distal myopathy 2
  • DLG4-related synaptopathy
  • DNMT3A overgrowth syndrome
  • DOCK8 immunodeficiency syndrome
  • DOLK-congenital disorder of glycosylation
  • Donnai-Barrow syndrome
  • Donohue syndrome
  • DOORS syndrome
  • Dopamine beta-hydroxylase deficiency
  • Dopamine transporter deficiency syndrome
  • Dopa-responsive dystonia
  • Dowling-Degos disease
  • Down syndrome
  • Duane-radial ray syndrome
  • Dubin-Johnson syndrome
  • Duchenne and Becker muscular dystrophy
  • Dupuytren contracture
  • Dyserythropoietic anemia and thrombocytopenia
  • Dyskeratosis congenita
  • Dystonia 16
  • Dystonia 6
  • Dystrophic epidermolysis bullosa

E

  • Early-onset glaucoma
  • Early-onset isolated dystonia
  • Early-onset myopathy with fatal cardiomyopathy
  • Ehlers-Danlos syndrome
  • Ellis-van Creveld syndrome
  • Emanuel syndrome
  • Emery-Dreifuss muscular dystrophy
  • Encephalocraniocutaneous lipomatosis
  • Enlarged parietal foramina
  • Eosinophil peroxidase deficiency
  • Epidermal nevus
  • Epidermolysis bullosa simplex
  • Epidermolysis bullosa with pyloric atresia
  • Epidermolytic hyperkeratosis
  • Epilepsy-aphasia spectrum
  • Episodic ataxia
  • Erdheim-Chester disease
  • Erythrokeratodermia variabilis et progressiva
  • Erythromelalgia
  • Esophageal atresia/tracheoesophageal fistula
  • Essential pentosuria
  • Essential thrombocythemia
  • Essential tremor
  • Ethylmalonic encephalopathy
  • Ewing sarcoma

F

  • Fabry disease
  • Facioscapulohumeral muscular dystrophy
  • Factor V deficiency
  • Factor VII deficiency
  • Factor V Leiden thrombophilia
  • Factor X deficiency
  • Factor XI deficiency
  • Factor XIII deficiency
  • Familial acute myeloid leukemia with mutated CEBPA
  • Familial adenomatous polyposis
  • Familial atrial fibrillation
  • Familial candidiasis
  • Familial cold autoinflammatory syndrome type 2
  • Familial dilated cardiomyopathy
  • Familial dysautonomia
  • Familial encephalopathy with neuroserpin inclusion bodies
  • Familial erythrocytosis
  • Familial exudative vitreoretinopathy
  • Familial focal epilepsy with variable foci
  • Familial glucocorticoid deficiency
  • Familial HDL deficiency
  • Familial hemiplegic migraine
  • Familial hemophagocytic lymphohistiocytosis
  • Familial hyperaldosteronism
  • Familial hypercholesterolemia
  • Familial hypertrophic cardiomyopathy
  • Familial hypobetalipoproteinemia
  • Familial isolated hyperparathyroidism
  • Familial isolated pituitary adenoma
  • Familial lipoprotein lipase deficiency
  • Familial male-limited precocious puberty
  • Familial Mediterranean fever
  • Familial osteochondritis dissecans
  • Familial paroxysmal kinesigenic dyskinesia
  • Familial paroxysmal nonkinesigenic dyskinesia
  • Familial partial lipodystrophy
  • Familial pityriasis rubra pilaris
  • Familial porencephaly
  • Familial restrictive cardiomyopathy
  • Familial thoracic aortic aneurysm and dissection
  • Fanconi anemia
  • Farber lipogranulomatosis
  • Farsightedness
  • Fatty acid hydroxylase-associated neurodegeneration
  • FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
  • Feingold syndrome
  • FG syndrome
  • Fibrochondrogenesis
  • Fibrodysplasia ossificans progressiva
  • Fibromyalgia
  • Fibronectin glomerulopathy
  • Fish-eye disease
  • Floating-Harbor syndrome
  • Focal dermal hypoplasia
  • FOXG1 syndrome
  • FOXP2-related speech and language disorder
  • Fragile X-associated primary ovarian insufficiency
  • Fragile X-associated tremor/ataxia syndrome
  • Fragile XE syndrome
  • Fragile X syndrome
  • Fraser syndrome
  • Frasier syndrome
  • Freeman-Sheldon syndrome
  • Free sialic acid storage disorder
  • Friedreich ataxia
  • Frontometaphyseal dysplasia
  • Frontonasal dysplasia
  • Frontotemporal dementia with parkinsonism-17
  • Fryns syndrome
  • Fuchs endothelial dystrophy
  • Fucosidosis
  • Fukuyama congenital muscular dystrophy
  • Fumarase deficiency
  • Fundus albipunctatus

G

  • GABA-transaminase deficiency
  • Galactosemia
  • Galactosialidosis
  • Gastrointestinal stromal tumor
  • Gaucher disease
  • Geleophysic dysplasia
  • Generalized arterial calcification of infancy
  • Generalized pustular psoriasis
  • Genetic epilepsy with febrile seizures plus
  • Genitopatellar syndrome
  • Gestational diabetes
  • Ghosal hematodiaphyseal dysplasia
  • Giant axonal neuropathy
  • Giant congenital melanocytic nevus
  • Gilbert syndrome
  • Gillespie syndrome
  • Gitelman syndrome
  • Glanzmann thrombasthenia
  • Globozoospermia
  • Glucose-6-phosphate dehydrogenase deficiency
  • Glucose-galactose malabsorption
  • Glucose phosphate isomerase deficiency
  • GLUT1 deficiency syndrome
  • Glutamate formiminotransferase deficiency
  • Glutaric acidemia type I
  • Glutaric acidemia type II
  • Glutathione synthetase deficiency
  • Glycogen storage disease type 0
  • Glycogen storage disease type I
  • Glycogen storage disease type III
  • Glycogen storage disease type IV
  • Glycogen storage disease type IX
  • Glycogen storage disease type V
  • Glycogen storage disease type VI
  • Glycogen storage disease type VII
  • Glycoprotein VI deficiency
  • GM1 gangliosidosis
  • GM2 activator deficiency
  • GM3 synthase deficiency
  • Gnathodiaphyseal dysplasia
  • GNE myopathy
  • Gordon Holmes syndrome
  • Gorlin-Chaudhry-Moss syndrome
  • Gorlin syndrome
  • Gout
  • GRACILE syndrome
  • Grange syndrome
  • Granulomatosis with polyangiitis
  • Graves' disease
  • Gray platelet syndrome
  • Greenberg dysplasia
  • Greig cephalopolysyndactyly syndrome
  • GRIN2B-related neurodevelopmental disorder
  • Griscelli syndrome
  • GRN-related frontotemporal lobar degeneration
  • Guanidinoacetate methyltransferase deficiency
  • Guillain-Barré syndrome
  • Gyrate atrophy of the choroid and retina

H

  • Hailey-Hailey disease
  • Hajdu-Cheney syndrome
  • Hand-foot-genital syndrome
  • Harlequin ichthyosis
  • Hartnup disease
  • Hartsfield syndrome
  • Hashimoto's disease
  • Head and neck squamous cell carcinoma
  • Hemophilia
  • Hennekam syndrome
  • Hepatic lipase deficiency
  • Hepatic veno-occlusive disease with immunodeficiency
  • Hereditary angioedema
  • Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
  • Hereditary antithrombin deficiency
  • Hereditary cerebral amyloid angiopathy
  • Hereditary diffuse gastric cancer
  • Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
  • Hereditary folate malabsorption
  • Hereditary fructose intolerance
  • Hereditary hemochromatosis
  • Hereditary hemorrhagic telangiectasia
  • Hereditary hyperekplexia
  • Hereditary hypophosphatemic rickets
  • Hereditary leiomyomatosis and renal cell cancer
  • Hereditary multiple osteochondromas
  • Hereditary myopathy with early respiratory failure
  • Hereditary neuralgic amyotrophy
  • Hereditary neuropathy with liability to pressure palsies
  • Hereditary pancreatitis
  • Hereditary paraganglioma-pheochromocytoma
  • Hereditary sensory and autonomic neuropathy type IE
  • Hereditary sensory and autonomic neuropathy type II
  • Hereditary sensory and autonomic neuropathy type V
  • Hereditary sensory neuropathy type IA
  • Hereditary spherocytosis
  • Hereditary xanthinuria
  • Hermansky-Pudlak syndrome
  • Heterotaxy syndrome
  • Hidradenitis suppurativa
  • Hirschsprung disease
  • Histidinemia
  • Histiocytosis-lymphadenopathy plus syndrome
  • HIVEP2-related intellectual disability
  • Holocarboxylase synthetase deficiency
  • Holt-Oram syndrome
  • Homocystinuria
  • Horizontal gaze palsy with progressive scoliosis
  • Horner syndrome
  • HSD10 disease
  • Huntington's disease
  • Huntington's disease-like
  • Hutchinson-Gilford progeria syndrome
  • Hyaline fibromatosis syndrome
  • Hyperferritinemia-cataract syndrome
  • Hyperkalemic periodic paralysis
  • Hyperlysinemia
  • Hypermanganesemia with dystonia
  • Hypermethioninemia
  • Hyperparathyroidism-jaw tumor syndrome
  • Hyperphosphatemic familial tumoral calcinosis
  • Hyperprolinemia
  • Hypertension
  • Hypochondrogenesis
  • Hypochondroplasia
  • Hypochromic microcytic anemia with iron overload
  • Hypohidrotic ectodermal dysplasia
  • Hypokalemic periodic paralysis
  • Hypomagnesemia with secondary hypocalcemia
  • Hypomyelination and congenital cataract
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
  • Hypophosphatasia
  • Hystrix-like ichthyosis with deafness

I

  • Ichthyosis with confetti
  • Idiopathic infantile hypercalcemia
  • Idiopathic inflammatory myopathy
  • Idiopathic pulmonary fibrosis
  • Imerslund-Gräsbeck syndrome
  • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
  • Immune thrombocytopenia
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  • Incontinentia pigmenti
  • Infantile neuroaxonal dystrophy
  • Infantile-onset ascending hereditary spastic paralysis
  • Infantile-onset spinocerebellar ataxia
  • Inherited thyroxine-binding globulin deficiency
  • Intervertebral disc disease
  • Intestinal pseudo-obstruction
  • Intrahepatic cholestasis of pregnancy
  • Intranuclear rod myopathy
  • Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
  • IRAK-4 deficiency
  • Iron-refractory iron deficiency anemia
  • Isobutyryl-CoA dehydrogenase deficiency
  • Isolated congenital asplenia
  • Isolated Duane retraction syndrome
  • Isolated ectopia lentis
  • Isolated growth hormone deficiency
  • Isolated hyperchlorhidrosis
  • Isolated hyperCKemia
  • Isolated lissencephaly sequence
  • Isolated Pierre Robin sequence
  • Isolated sulfite oxidase deficiency
  • Isovaleric acidemia

J

  • Jackson-Weiss syndrome
  • Jacobsen syndrome
  • JAK3-deficient severe combined immunodeficiency
  • Jervell and Lange-Nielsen syndrome
  • Joubert syndrome
  • Junctional epidermolysis bullosa
  • Juvenile idiopathic arthritis
  • Juvenile myoclonic epilepsy
  • Juvenile Paget disease
  • Juvenile polyposis syndrome
  • Juvenile primary lateral sclerosis
  • Juvenile primary osteoporosis

K

  • Kabuki syndrome
  • Kallmann syndrome
  • Kaufman oculocerebrofacial syndrome
  • Kawasaki disease
  • KBG syndrome
  • KCNB1 encephalopathy
  • KCNK9 imprinting syndrome
  • Kearns-Sayre syndrome
  • Keratitis-ichthyosis-deafness syndrome
  • Keratoconus
  • Keratoderma with woolly hair
  • Kidney stones
  • Kindler epidermolysis bullosa
  • Kleefstra syndrome
  • Klinefelter syndrome
  • Klippel-Feil syndrome
  • Klippel-Trenaunay syndrome
  • Kniest dysplasia
  • Knobloch syndrome
  • Koolen-de Vries syndrome
  • Krabbe disease
  • Kuskokwim syndrome

L

  • L1 syndrome
  • Lacrimo-auriculo-dento-digital syndrome
  • Lactate dehydrogenase deficiency
  • Lactose intolerance
  • Lafora progressive myoclonus epilepsy
  • Laing distal myopathy
  • LAMA2-related muscular dystrophy
  • Lamellar ichthyosis
  • Langerhans cell histiocytosis
  • Langer mesomelic dysplasia
  • Laron syndrome
  • Larsen syndrome
  • Laryngo-onycho-cutaneous syndrome
  • Lateral meningocele syndrome
  • Lattice corneal dystrophy type I
  • Lattice corneal dystrophy type II
  • Leber congenital amaurosis
  • Leber hereditary optic neuropathy
  • Left ventricular noncompaction
  • Legg-Calvé-Perthes disease
  • Legius syndrome
  • Leigh syndrome
  • Lennox-Gastaut syndrome
  • Leprosy
  • Leptin receptor deficiency
  • Léri-Weill dyschondrosteosis
  • Lesch-Nyhan syndrome
  • Leukocyte adhesion deficiency type 1
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate
  • Leukoencephalopathy with vanishing white matter
  • Leydig cell hypoplasia
  • Liddle syndrome
  • Liebenberg syndrome
  • Li-Fraumeni syndrome
  • Limb-girdle muscular dystrophy
  • Lipoid proteinosis
  • Lissencephaly with cerebellar hypoplasia
  • LMNA-related congenital muscular dystrophy
  • Loeys-Dietz syndrome
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Lowe syndrome
  • Lujan syndrome
  • Lung cancer
  • Lyme disease
  • Lymphangioleiomyomatosis
  • Lymphedema-distichiasis syndrome
  • Lynch syndrome
  • Lysinuric protein intolerance
  • Lysosomal acid lipase deficiency

M

  • Mabry syndrome
  • Macrozoospermia
  • Maffucci syndrome
  • Mainzer-Saldino syndrome
  • Majeed syndrome
  • Mal de Meleda
  • Malignant hyperthermia
  • Malignant migrating partial seizures of infancy
  • Malonyl-CoA decarboxylase deficiency
  • Mandibuloacral dysplasia
  • Mandibulofacial dysostosis with microcephaly
  • Manitoba oculotrichoanal syndrome
  • Mannose-binding lectin deficiency
  • Maple syrup urine disease
  • Marfan syndrome
  • Marinesco-Sjögren syndrome
  • Maternally inherited diabetes and deafness
  • Maturity-onset diabetes of the young
  • Mayer-Rokitansky-Küster-Hauser syndrome
  • MBD5-associated neurodevelopmental disorder
  • McCune-Albright syndrome
  • McKusick-Kaufman syndrome
  • McLeod neuroacanthocytosis syndrome
  • MDA5 deficiency
  • Meckel syndrome
  • MECP2 duplication syndrome
  • MECP2-related severe neonatal encephalopathy
  • MED13L syndrome
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Medullary cystic kidney disease type 1
  • Meesmann corneal dystrophy
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • Megalencephaly-capillary malformation syndrome
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
  • MEGDEL syndrome
  • Meier-Gorlin syndrome
  • Meige disease
  • Melanoma
  • Melnick-Needles syndrome
  • Melorheostosis
  • Ménière disease
  • Menkes syndrome
  • Metachromatic leukodystrophy
  • Metatropic dysplasia
  • Methemoglobinemia, beta-globin type
  • Methylmalonic acidemia
  • Methylmalonic acidemia with homocystinuria
  • Mevalonate kinase deficiency
  • Microcephalic osteodysplastic primordial dwarfism type II
  • Microcephaly-capillary malformation syndrome
  • Microcephaly, seizures, and developmental delay
  • Microphthalmia
  • Microphthalmia with linear skin defects syndrome
  • Microvillus inclusion disease
  • Migraine
  • Miller-Dieker syndrome
  • Miller syndrome
  • Milroy disease
  • Mitochondrial complex I deficiency
  • Mitochondrial complex III deficiency
  • Mitochondrial complex V deficiency
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
  • Mitochondrial membrane protein-associated neurodegeneration
  • Mitochondrial neurogastrointestinal encephalopathy disease
  • Mitochondrial trifunctional protein deficiency
  • Miyoshi myopathy
  • MN1 C-terminal truncation syndrome
  • Moebius syndrome
  • Molybdenum cofactor deficiency
  • Monilethrix
  • Monoamine oxidase A deficiency
  • Mosaic variegated aneuploidy syndrome
  • Motion sickness
  • Mowat-Wilson syndrome
  • Moyamoya disease
  • MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
  • Mucolipidosis II alpha/beta
  • Mucolipidosis III alpha/beta
  • Mucolipidosis III gamma
  • Mucolipidosis type IV
  • Mucopolysaccharidosis type I
  • Mucopolysaccharidosis type II
  • Mucopolysaccharidosis type III
  • Mucopolysaccharidosis type IV
  • Mucopolysaccharidosis type VI
  • Mucopolysaccharidosis type VII
  • Muenke syndrome
  • Müllerian aplasia and hyperandrogenism
  • Multicentric osteolysis, nodulosis, and arthropathy
  • Multiminicore disease
  • Multiple cutaneous and mucosal venous malformations
  • Multiple endocrine neoplasia
  • Multiple epiphyseal dysplasia
  • Multiple familial trichoepithelioma
  • Multiple mitochondrial dysfunctions syndrome
  • Multiple myeloma
  • Multiple pterygium syndrome
  • Multiple sclerosis
  • Multiple sulfatase deficiency
  • Multiple system atrophy
  • Myasthenia gravis
  • Mycosis fungoides
  • MyD88 deficiency
  • MYH9-related disorder
  • Myhre syndrome
  • Myoclonic epilepsy myopathy sensory ataxia
  • Myoclonic epilepsy with ragged-red fibers
  • Myoclonus-dystonia
  • Myofibrillar myopathy
  • Myopathy with deficiency of iron-sulfur cluster assembly enzyme
  • Myosin storage myopathy
  • Myostatin-related muscle hypertrophy
  • Myotonia congenita
  • Myotonic dystrophy

N

  • N-acetylglutamate synthase deficiency
  • Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
  • Nager syndrome
  • Nail-patella syndrome
  • Nakajo-Nishimura syndrome
  • Narcolepsy
  • Nearsightedness
  • Nemaline myopathy
  • Nephronophthisis
  • Netherton syndrome
  • Neuroblastoma
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • Neuroferritinopathy
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Neuromyelitis optica
  • Neuropathy, ataxia, and retinitis pigmentosa
  • Neutral lipid storage disease with myopathy
  • NGLY1-congenital disorder of deglycosylation
  • Nicolaides-Baraitser syndrome
  • Niemann-Pick disease
  • Nijmegen breakage syndrome
  • Non-alcoholic fatty liver disease
  • Nonbullous congenital ichthyosiform erythroderma
  • Nonketotic hyperglycinemia
  • Nonsyndromic aplasia cutis congenita
  • Nonsyndromic congenital nail disorder 10
  • Nonsyndromic hearing loss
  • Nonsyndromic holoprosencephaly
  • Nonsyndromic paraganglioma
  • Noonan syndrome
  • Noonan syndrome with multiple lentigines
  • Norrie disease
  • North American Indian childhood cirrhosis

O

  • Obsessive-compulsive disorder
  • Obstructive sleep apnea
  • Ochoa syndrome
  • Ocular albinism
  • Oculocutaneous albinism
  • Oculodentodigital dysplasia
  • Oculofaciocardiodental syndrome
  • Oculopharyngeal muscular dystrophy
  • Ohdo syndrome, Maat-Kievit-Brunner type
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
  • Ollier disease
  • Omenn syndrome
  • Ophthalmo-acromelic syndrome
  • Opioid addiction
  • Opitz G/BBB syndrome
  • Optic atrophy type 1
  • Oral-facial-digital syndrome
  • Ornithine transcarbamylase deficiency
  • Ornithine translocase deficiency
  • Orthostatic hypotension
  • Osteoarthritis
  • Osteogenesis imperfecta
  • Osteoglophonic dysplasia
  • Osteopetrosis
  • Osteoporosis-pseudoglioma syndrome
  • Otopalatodigital syndrome type 1
  • Otopalatodigital syndrome type 2
  • Otospondylomegaepiphyseal dysplasia
  • Otulipenia
  • Ovarian cancer

P

  • Pachyonychia congenita
  • PACS1 syndrome
  • Paget disease of bone
  • Pallister-Hall syndrome
  • Pallister-Killian mosaic syndrome
  • Palmoplantar keratoderma with deafness
  • Pantothenate kinase-associated neurodegeneration
  • Paramyotonia congenita
  • Parathyroid cancer
  • Parkes Weber syndrome
  • Parkinson's disease
  • Paroxysmal extreme pain disorder
  • Paroxysmal nocturnal hemoglobinuria
  • Partington syndrome
  • PDGFRA-associated chronic eosinophilic leukemia
  • PDGFRB-associated chronic eosinophilic leukemia
  • Pearson syndrome
  • Peeling skin syndrome 2
  • Pelizaeus-Merzbacher disease
  • Pelizaeus-Merzbacher-like disease type 1
  • Pendred syndrome
  • Periventricular heterotopia
  • Permanent neonatal diabetes mellitus
  • Peroxisomal acyl-CoA oxidase deficiency
  • Perrault syndrome
  • Perry syndrome
  • Persistent Müllerian duct syndrome
  • Peters anomaly
  • Peters plus syndrome
  • Peutz-Jeghers syndrome
  • Pfeiffer syndrome
  • PGM3-congenital disorder of glycosylation
  • Phenylketonuria
  • Phosphoglycerate dehydrogenase deficiency
  • Phosphoglycerate kinase deficiency
  • Phosphoglycerate mutase deficiency
  • Phosphoribosylpyrophosphate synthetase superactivity
  • Piebaldism
  • Pilomatricoma
  • Pitt-Hopkins syndrome
  • Platyspondylic lethal skeletal dysplasia, Torrance type
  • PLCG2-associated antibody deficiency and immune dysregulation
  • PMM2-congenital disorder of glycosylation
  • Poikiloderma with neutropenia
  • Poland syndrome
  • Pol III-related leukodystrophy
  • Polycystic kidney disease
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • Polycystic ovary syndrome
  • Polycythemia vera
  • Polymicrogyria
  • Pompe disease
  • Pontocerebellar hypoplasia
  • Popliteal pterygium syndrome
  • Porphyria
  • Potassium-aggravated myotonia
  • Potocki-Lupski syndrome
  • Potocki-Shaffer syndrome
  • PPM-X syndrome
  • PPP2R5D-related intellectual disability
  • Prader-Willi syndrome
  • Preeclampsia
  • Prekallikrein deficiency
  • PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • Primary carnitine deficiency
  • Primary ciliary dyskinesia
  • Primary coenzyme Q10 deficiency
  • Primary familial brain calcification
  • Primary hyperoxaluria
  • Primary localized cutaneous amyloidosis
  • Primary macronodular adrenal hyperplasia
  • Primary myelofibrosis
  • Primary sclerosing cholangitis
  • Primary spontaneous pneumothorax
  • Prion disease
  • Progressive external ophthalmoplegia
  • Progressive familial heart block
  • Progressive familial intrahepatic cholestasis
  • Progressive myoclonic epilepsy type 1
  • Progressive osseous heteroplasia
  • Progressive pseudorheumatoid dysplasia
  • Progressive supranuclear palsy
  • Prolidase deficiency
  • Proopiomelanocortin deficiency
  • Propionic acidemia
  • Prostate cancer
  • Protein C deficiency
  • Protein S deficiency
  • Proteus syndrome
  • Prothrombin deficiency
  • Prothrombin thrombophilia
  • Proximal 18q deletion syndrome
  • Pseudoachondroplasia
  • Pseudocholinesterase deficiency
  • Pseudohypoaldosteronism type 1
  • Pseudohypoaldosteronism type 2
  • Pseudoxanthoma elasticum
  • Psoriatic arthritis
  • Pulmonary alveolar microlithiasis
  • Pulmonary arterial hypertension
  • Pulmonary veno-occlusive disease
  • PURA syndrome
  • Purine nucleoside phosphorylase deficiency
  • Pyle disease
  • Pyridoxal phosphate-responsive seizures
  • Pyridoxine-dependent epilepsy
  • Pyruvate carboxylase deficiency
  • Pyruvate dehydrogenase deficiency
  • Pyruvate kinase deficiency

R

  • RAB18 deficiency
  • Rabson-Mendenhall syndrome
  • RAPADILINO syndrome
  • Rapid-onset dystonia parkinsonism
  • Raynaud phenomenon
  • Recombinant 8 syndrome
  • Recurrent hydatidiform mole
  • Refsum disease
  • Renal coloboma syndrome
  • Renal hypouricemia
  • Renal tubular acidosis with deafness
  • Renal tubular dysgenesis
  • Renpenning syndrome
  • REN-related kidney disease
  • Restless legs syndrome
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
  • Retinitis pigmentosa
  • Retinoblastoma
  • Retroperitoneal fibrosis
  • Rett syndrome
  • Rhabdoid tumor predisposition syndrome
  • Rheumatoid arthritis
  • Rhizomelic chondrodysplasia punctata
  • Riboflavin transporter deficiency neuronopathy
  • Rigid spine muscular dystrophy
  • Ring chromosome 14 syndrome
  • Ring chromosome 20 syndrome
  • Rippling muscle disease
  • RNAse T2-deficient leukoencephalopathy
  • Roberts syndrome
  • Robinow syndrome
  • Romano-Ward syndrome
  • Rosacea
  • Rothmund-Thomson syndrome
  • Rotor syndrome
  • RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  • Rubinstein-Taybi syndrome
  • Russell-Silver syndrome

S

  • SADDAN
  • Saethre-Chotzen syndrome
  • Sandhoff disease
  • SATB2-associated syndrome
  • Saul-Wilson syndrome
  • Scalp-ear-nipple syndrome
  • Schimke immuno-osseous dysplasia
  • Schindler disease
  • Schinzel-Giedion syndrome
  • Schizoaffective disorder
  • Schizophrenia
  • Schwannomatosis
  • Schwartz-Jampel syndrome
  • SCN8A-related epilepsy with encephalopathy
  • Seasonal affective disorder
  • Senior-Løken syndrome
  • Sepiapterin reductase deficiency
  • Septo-optic dysplasia
  • SETBP1 haploinsufficiency disorder
  • Severe congenital neutropenia
  • Sézary syndrome
  • Sheldon-Hall syndrome
  • Shingles
  • Short/branched chain acyl-CoA dehydrogenase deficiency
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Short QT syndrome
  • Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
  • Shprintzen-Goldberg syndrome
  • Shwachman-Diamond syndrome
  • Sialidosis
  • Sialuria
  • Sickle cell disease
  • Sick sinus syndrome
  • Silver syndrome
  • Simpson-Golabi-Behmel syndrome
  • Sitosterolemia
  • Sjögren-Larsson syndrome
  • Sjögren syndrome
  • SLC35A2-congenital disorder of glycosylation
  • SLC4A1-associated distal renal tubular acidosis
  • Small fiber neuropathy
  • Smith-Kingsmore syndrome
  • Smith-Lemli-Opitz syndrome
  • Smith-Magenis syndrome
  • Snijders Blok-Campeau syndrome
  • Snyder-Robinson syndrome
  • SOST-related sclerosing bone dysplasia
  • Sotos syndrome
  • SOX2 anophthalmia syndrome
  • Spastic paraplegia type 11
  • Spastic paraplegia type 15
  • Spastic paraplegia type 2
  • Spastic paraplegia type 31
  • Spastic paraplegia type 3A
  • Spastic paraplegia type 4
  • Spastic paraplegia type 49
  • Spastic paraplegia type 5A
  • Spastic paraplegia type 7
  • Spastic paraplegia type 8
  • Spina bifida
  • Spinal and bulbar muscular atrophy
  • Spinal muscular atrophy
  • Spinal muscular atrophy with lower extremity predominance
  • Spinal muscular atrophy with progressive myoclonic epilepsy
  • Spinal muscular atrophy with respiratory distress type 1
  • Spinocerebellar ataxia type 1
  • Spinocerebellar ataxia type 2
  • Spinocerebellar ataxia type 3
  • Spinocerebellar ataxia type 36
  • Spinocerebellar ataxia type 6
  • Spondylocarpotarsal synostosis syndrome
  • Spondylocostal dysostosis
  • Spondyloenchondrodysplasia with immune dysregulation
  • Spondyloepimetaphyseal dysplasia, Strudwick type
  • Spondyloepiphyseal dysplasia congenita
  • Spondyloepiphyseal dysplasia with metatarsal shortening
  • Spondyloperipheral dysplasia
  • Spondylothoracic dysostosis
  • Sporadic hemiplegic migraine
  • SRD5A3-congenital disorder of glycosylation
  • STAC3 disorder
  • Stargardt macular degeneration
  • Steatocystoma multiplex
  • Stevens-Johnson syndrome/toxic epidermal necrolysis
  • Stickler syndrome
  • STING-associated vasculopathy with onset in infancy
  • Stormorken syndrome
  • Sturge-Weber syndrome
  • Stüve-Wiedemann syndrome
  • STXBP1 encephalopathy
  • Subcortical band heterotopia
  • Succinic semialdehyde dehydrogenase deficiency
  • Succinyl-CoA:3-ketoacid CoA transferase deficiency
  • SUCLA2-related mitochondrial DNA depletion syndrome
  • SUCLG1-related mitochondrial DNA depletion syndrome
  • Sudden infant death with dysgenesis of the testes syndrome
  • Supravalvular aortic stenosis
  • Surfactant dysfunction
  • Swyer syndrome
  • SYNGAP1-related intellectual disability
  • Systemic lupus erythematosus
  • Systemic mastocytosis
  • Systemic scleroderma

T

  • Tangier disease
  • Tarsal-carpal coalition syndrome
  • Task-specific focal dystonia
  • Tay-Sachs disease
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • Terminal osseous dysplasia
  • Tetra-amelia syndrome
  • Tetrahydrobiopterin deficiency
  • Tetrasomy 18p
  • Thanatophoric dysplasia
  • Thiamine-responsive megaloblastic anemia syndrome
  • Thiopurine S-methyltransferase deficiency
  • Thrombocytopenia-absent radius syndrome
  • Thrombotic thrombocytopenic purpura
  • Tibial muscular dystrophy
  • Tietz syndrome
  • Timothy syndrome
  • TK2-related mitochondrial DNA depletion syndrome, myopathic form
  • Tourette syndrome
  • Townes-Brocks Syndrome
  • Transcobalamin deficiency
  • Transthyretin amyloidosis
  • Treacher Collins syndrome
  • Trichohepatoenteric syndrome
  • Trichorhinophalangeal syndrome type I
  • Trichorhinophalangeal syndrome type II
  • Trichothiodystrophy
  • Trimethylaminuria
  • Triosephosphate isomerase deficiency
  • Triple A syndrome
  • Trisomy 13
  • Trisomy 18
  • Trisomy X
  • TRNT1 deficiency
  • Troyer syndrome
  • TUBB4A-related leukodystrophy
  • Tuberous sclerosis complex
  • Tubular aggregate myopathy
  • Tumor necrosis factor receptor-associated periodic syndrome
  • Turner syndrome
  • Type 1 diabetes
  • Type 2 diabetes
  • Type A insulin resistance syndrome
  • Tyrosine hydroxylase deficiency
  • Tyrosinemia

U

  • Ulcerative colitis
  • UNC80 deficiency
  • Uncombable hair syndrome
  • Usher syndrome
  • UV-sensitive syndrome

V

  • VACTERL association
  • Van der Woude syndrome
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • VEXAS syndrome
  • Vibratory urticaria
  • Vici syndrome
  • Vitamin D-dependent rickets
  • Vitelliform macular dystrophy
  • Vitiligo
  • VLDLR-associated cerebellar hypoplasia
  • Vohwinkel syndrome
  • Von Hippel-Lindau syndrome
  • Von Willebrand disease

W

  • Waardenburg syndrome
  • Wagner syndrome
  • WAGR syndrome
  • Waldenström macroglobulinemia
  • Walker-Warburg syndrome
  • Warfarin resistance
  • Warfarin sensitivity
  • Warsaw breakage syndrome
  • Weaver syndrome
  • Weill-Marchesani syndrome
  • Weissenbacher-Zweymüller syndrome
  • Werner syndrome
  • Weyers acrofacial dysostosis
  • White sponge nevus
  • White-Sutton syndrome
  • Wiedemann-Rautenstrauch syndrome
  • Williams syndrome
  • Wilms tumor
  • Wilson disease
  • Winchester syndrome
  • Wiskott-Aldrich syndrome
  • Wolff-Parkinson-White syndrome
  • Wolf-Hirschhorn syndrome
  • Wolfram syndrome
  • Woodhouse-Sakati syndrome

X

  • Xeroderma pigmentosum
  • Xia-Gibbs syndrome
  • X-linked acrogigantism
  • X-linked adrenal hypoplasia congenita
  • X-linked adrenoleukodystrophy
  • X-linked agammaglobulinemia
  • X-linked cardiac valvular dysplasia
  • X-linked chondrodysplasia punctata 1
  • X-linked chondrodysplasia punctata 2
  • X-linked congenital stationary night blindness
  • X-linked creatine deficiency
  • X-linked dilated cardiomyopathy
  • X-linked dystonia-parkinsonism
  • X-linked hyper IgM syndrome
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • X-linked infantile nystagmus
  • X-linked infantile spinal muscular atrophy
  • X-linked intellectual disability, Siderius type
  • X-linked juvenile retinoschisis
  • X-linked lissencephaly with abnormal genitalia
  • X-linked lymphoproliferative disease
  • X-linked myotubular myopathy
  • X-linked severe combined immunodeficiency
  • X-linked sideroblastic anemia
  • X-linked sideroblastic anemia and ataxia
  • X-linked spondyloepiphyseal dysplasia tarda
  • X-linked thrombocytopenia

Y

  • Yao syndrome
  • Y chromosome infertility
  • Yuan-Harel-Lupski syndrome

Z

  • ZAP70-related severe combined immunodeficiency
  • Zellweger spectrum disorder