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Genetic conditions on Zelomed

These articles describe inherited and genetic conditions in plain language: typical features, how often they are seen in studies (when that is known), underlying causes, inheritance patterns, and links to genes that are often discussed in care. Language and statistics are simplified for readers; they are not a substitute for clinical genetics assessment or family-history–based risk counseling.

Using the conditions catalog

Conditions are sorted under the first letter of the name; use A–Z to browse a section or search to match part of a title. Opening an entry shows the full article and, when available, related genes and further reading. If you are comparing similar diagnoses or wondering about testing, bring questions raised here to a physician or certified genetic counselor.

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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