V

• 3 methylglutaconic aciduria type V

• 46, XY disorders of sexual development

• 46,XX testicular disorder of sex development

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• Aberrant subclavian artery

• Acalvaria

• Accessory deep peroneal nerve

• Achondroplasia and severe combined immunodeficiency

• Acquired Von Willebrand syndrome

• Acromegaloid changes, cutis verticis gyrata and corneal leukoma

• Acromegaloid features, overgrowth, cleft palate and hernia

• Acropectorovertebral dysplasia F form

• Acrorenal syndrome recessive

• Acute alcohol sensitivity

• Acute fatty liver of pregnancy

• Acute graft versus host disease

• Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

• Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

• Acute necrotizing ulcerative gingivitis

• Adams-Oliver syndrome

• Adult progressive spinal muscular atrophy Aran Duchenne type

• Adult-onset vitelliform macular dystrophy

• Advanced sleep phase syndrome, familial

• Adverse events of 5-alpha-reductase inhibitors

• Agammaglobulinemia, microcephaly, and severe dermatitis

• Aggressive NK cell leukemia

• Aglossia and Situs Inversus

• Aksu von Stockhausen syndrome

• Alopecia universalis

• Alopecia universalis onychodystrophy vitiligo

• Alveolar capillary dysplasia

• Alveolar echinococcosis

• Alveolar soft part sarcoma

• Aminolevulinate dehydratase deficiency porphyria

• Amoebiasis due to free-living amoebae

• Amyloidosis familial visceral

• Amyloidosis of gingiva and conjunctiva with intellectual disability

• ANCA-associated vasculitis

• Androgen insensitivity syndrome

• Androgen insensitivity syndrome, mild

• Aneurysm of sinus of Valsalva

• Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert

• Angiomatosis, leptomeningeal capillary venous

• Angiosarcoma of the liver

• Ankylosing vertebral hyperostosis with tylosis

• Anterior uveitis

• Antihypertensive drugs antenatal exposure

• Aortic valve stenosis

• Aortic valves stenosis of the child

• Aphalangia partial with syndactyly and duplication of metatarsal IV

• Aplasia cutis autosomal recessive

• Aplasia cutis congenita of limbs recessive

• Aplasia cutis congenita recessive

• Arbovirosis

• Arrhythmogenic right ventricular dysplasia

• Arroyo Garcia Cimadevilla syndrome

• Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay

• Ataxia with vitamin E deficiency

• Atrial septal defect sinus venosus

• Atrioventricular septal defect

• Atrophoderma vermiculata

• Autoimmune lymphoproliferative syndrome

• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

• Autoimmune pulmonary alveolar proteinosis

• Autosomal recessive Alport syndrome

• Autosomal recessive axonal neuropathy with neuromyotonia

• Autosomal recessive centronuclear myopathy

• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

• Autosomal recessive early-onset inflammatory bowel disease

• Autosomal recessive hyper IgE syndrome

• Autosomal recessive intellectual disability 58

• Autosomal recessive intermediate Charcot-Marie-Tooth disease

• Autosomal recessive juvenile Parkinson disease

• Autosomal recessive nonsyndromic congenital nuclear cataract

• Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy

• Autosomal recessive palmoplantar keratoderma and congenital alopecia

• Autosomal recessive polycystic kidney disease

• Autosomal recessive primary microcephaly

• Autosomal recessive protein C deficiency

• Autosomal recessive pseudohypoaldosteronism type 1

• Autosomal recessive spastic ataxia 4

• Autosomal recessive spinocerebellar ataxia 9

• Baby rattle pelvic dysplasia

• Baker Vinters syndrome

• Bannayan-Riley-Ruvalcaba syndrome

• Basal cell nevus anodontia abnormal bone mineralization

• Beare-Stevenson cutis gyrata syndrome

• Becker nevus syndrome

• Becker's nevus

• Benign angiitis of the central nervous system

• Benign paroxysmal positional vertigo

• Best vitelliform macular dystrophy

• Bilateral perisylvian polymicrogyria

• Biotin-thiamine-responsive basal ganglia disease

• BK-virus nephropathy

• Blepharo naso facial syndrome Van maldergem type

• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1

• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2

• Blue rubber bleb nevus syndrome

• Boerhaave syndrome

• Borrone Di Rocco Crovato syndrome

• Bourneville syndrome

• Brachydactyly preaxial with hallux varus and thumb abduction

• BRCA1 hereditary breast and ovarian cancer syndrome

• BRCA2 hereditary breast and ovarian cancer syndrome

• Brenner tumor of ovary

• Brenner tumor of the vagina

• Calvarial hyperostosis

• Camptodactyly arthropathy coxa vara pericarditis syndrome

• Camptodactyly vertebral fusion

• Canavan disease

• Candidiasis familial chronic mucocutaneous, autosomal recessive

• Capillary malformation-arteriovenous malformation syndrome

• Carbonic anhydrase VA deficiency

• Carcinoma of the vocal tract

• Cardiac diverticulum

• Cardiac hydatid cysts with intracavitary expansion

• Cardiac valvular dysplasia, X-linked

• Cardiac-Valvular Ehlers-Danlos syndrome

• Carnevale Hernandez Castillo syndrome

• Carpo tarsal osteolysis recessive

• Cassavism

• Cataract congenital Volkmann type

• Cataract, autosomal recessive congenital 2

• Cataract-microcephaly-failure to thrive-kyphoscoliosis

• Catecholaminergic polymorphic ventricular tachycardia

• Cavernous lymphangioma

• Central nervous system germinoma

• Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss

• Cerebello-olivary atrophy

• Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

• Cerebral ventricle cancer

• Cervical dystonia

• Cervical hypertrichosis peripheral neuropathy

• Cervical intraepithelial neoplasia

• Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction

• Childhood disintegrative disorder

• Childhood ovarian cancer

• Cholestasis, progressive familial intrahepatic 4

• Chondrodysplasia lethal recessive

• Chondrodysplasia punctata 1, X-linked recessive

• Chondrodysplasia situs inversus imperforate anus polydactyly

• Chordoid glioma of the third ventricle

• Chronic active Epstein-Barr virus infection

• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

• Chronic erosive gastritis

• Chronic graft versus host disease

• Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

• Chronic myeloproliferative disorders

• Chronic progressive external ophthalmoplegia

• Ciliary dyskinesia with excessively long cilia

• Circumscribed cutaneous aplasia of the vertex

• Cleft palate short stature vertebral anomalies

• Cleidocranial dysplasia recessive form

• CLOVES syndrome

• CMV antenatal infection

• Cochleosaccular degeneration of the inner ear and progressive cataracts

• Collagen VI related muscular dystrophy

• Colloid cysts of third ventricle

• Coloboma of optic nerve

• Colver Steer Godman syndrome

• Combined oxidative phosphorylation deficiency

• Combined oxidative phosphorylation deficiency 16

• Common variable immunodeficiency

• Complete androgen insensitivity syndrome

• Complete atrioventricular canal

• Condensing osteitis of the clavicle

• Conductive deafness with malformed external ear

• Congenital aneurysms of the great vessels

• Congenital arteriovenous shunt

• Congenital bilateral absence of the vas deferens

• Congenital cardiovascular shunt

• Congenital central hypoventilation syndrome

• Congenital cytomegalovirus

• Congenital deafness with vitiligo and achalasia

• Congenital human immunodeficiency virus

• Congenital insensitivity to pain

• Congenital insensitivity to pain with anhidrosis

• Congenital mirror movement disorder

• Congenital myxovirus

• Congenital pulmonary alveolar proteinosis

• Congenital stenosis of cervical medullary canal

• Congenital vagal hyperreflexivity

• Congenital varicella syndrome

• Congenital vertical talus

• Conjunctival melanoma

• Conjunctivitis with Pseudomembrane

• Continuous muscle fiber activity hereditary

• Continuous spike-wave during slow sleep syndrome

• Conversion disorder

• Convulsions benign familial neonatal dominant form

• Convulsions, benign familial infantile, 1

• CoQ-responsive OXPHOS deficiency

• Corneal dystrophy and perceptive deafness

• Corneal dystrophy Avellino type

• Corpus callosum dysgenesis X-linked recessive

• Corticosteroid-sensitive aseptic abscesses

• Coxa vara, congenital

• Craniometaphyseal dysplasia, autosomal recessive type

• Craniosynostosis exostoses nevus epibulbar dermoid

• Cutaneous larva migrans

• Cutaneous photosensitivity and colitis, lethal

• Cutaneus colagenous vasculopathy

• Cutis laxa, autosomal recessive type 1

• Cutis laxa, autosomal recessive type 2A

• Cutis laxa, autosomal recessive type 2B

• Cutis verticis gyrata

• Cutis verticis gyrata mental deficiency

• Cystic adventitial disease

• Cytomegalovirus retinitis

• Dandy-Walker like malformation with atrioventricular septal defect

• Daneman Davy Mancer syndrome

• Davenport Donlan syndrome

• Davis Lafer syndrome

• Deafness conductive ptosis skeletal anomalies

• Deafness conductive stapedial ear malformation facial palsy

• Deafness mesenteric diverticula of small bowel neuropathy

• Deafness progressive cataract autosomal dominant

• Deafness, autosomal recessive 51

• Deafness, autosomal recessive 55

• Deafness, neurosensory nonsyndromic recessive, DFN

• Deafness, neurosensory, autosomal recessive 47

• Defective apolipoprotein B-100

• Dengue fever

• Dens in dente and palatal invaginations

• Der Kaloustian Mcintosh Silver syndrome

• Developmental dysphasia familial

• Developmental prosopagnosia

• Devriendt syndrome

• Dextrocardia with situs inversus

• Dianzani autoimmune lymphoproliferative syndrome

• Die Smulders Droog Van Dijk syndrome

• Die Smulders Vles Fryns syndrome

• Diffuse cavernous hemangioma of the rectum

• Digestive System Melanoma

• Disseminated infection with mycobacterium avium complex

• Dissociative seizures

• Distal myopathy with vocal cord weakness

• Dominant ichthyosis vulgaris

• Dopa-responsive dystonia

• Dopa-responsive dystonia; Segawa syndrome AD

• Dosage-sensitive sex reversal

• Double outlet left ventricle

• Double outlet right ventricle

• Double uterus-hemivagina-renal agenesis

• Dravet syndrome

• Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery

• Dwarfism lethal type advanced bone age

• Dwarfism Levi type

• Dwarfism, low-birth-weight type with unresponsiveness to growth hormone

• Dyggve-Melchior-Clausen syndrome

• Dyschromatosis universalis hereditaria

• Dyskeratosis congenita autosomal recessive

• Dyssegmental dysplasia Silverman-Handmaker type

• Dystonia 2, torsion, autosomal recessive

• Ebola virus disease

• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features

• Ectopia lentis, isolated autosomal recessive

• Elective mutism

• Ellis-Van Creveld syndrome

• Engelhard Yatziv syndrome

• Enlarged vestibular aqueduct syndrome

• Enterovesical fistula

• Enterovirus antenatal infection

• Enthesitis-related juvenile idiopathic arthritis

• Envenomization by bothrops lanceolatus

• Epidermal nevus vitamin D resistant rickets

• Epidermodysplasia verruciformis

• Epilepsy juvenile absence

• Epilepsy progressive myoclonic type 3

• Erosive pustular dermatosis of the scalp

• Erythema elevatum diutinum

• Erythroderma desquamativa of Leiner

• Erythrokeratodermia variabilis et progressiva

• Esophageal varices

• Evans syndrome

• Exfoliative dermatitis

• Extracranial arteriovenous malformation

• Facio digito genital syndrome recessive form

• Factor V deficiency

• Factor VII deficiency

• Fallot complex with severe mental and growth retardation

• Familial avascular necrosis of the femoral head

• Familial capillaro-venous leptomeningeal angiomatosis

• Familial congenital palsy of trochlear nerve

• Familial exudative vitreoretinopathy

• Familial focal epilepsy with variable foci

• Familial juvenile hyperuricaemic nephropathy

• Familial Mediterranean fever

• Familial pemphigus vulgaris

• Familial progressive cardiac conduction defect

• Familial reactive perforating collagenosis

• Familial ventricular tachycardia

• Familial visceral myopathy with external ophthalmoplegia

• Fara Chlupackova syndrome

• Fetal enterovirus syndrome

• Fetal left ventricular aneurysm

• Fetal parainfluenza virus type 3 syndrome

• Fetal parvovirus syndrome

• Fetal valproate syndrome

• Fibro-adipose vascular anomaly

• Fibrodysplasia ossificans progressiva

• Fibular hypoplasia scapulo pelvic dysplasia absent

• Flavimonas oryzihabitans infection

• FMR1-related primary ovarian insufficiency

• Focal palmoplantar and gingival keratoderma

• Foix Chavany Marie syndrome

• Franceschini Vardeu Guala syndrome

• Frontotemporal dementia, ubiquitin-positive

• Fuqua Berkovitz syndrome

• Gamma heavy chain disease

• GATAD2B-associated neurodevelopmental disorder

• Gaucher ichthyosis restrictive dermopathy

• Genu valgum, st Helena familial

• Ghose Sachdev Kumar syndrome

• Giant congenital nevus

• Giant papillary conjunctivitis

• Gigantism advanced bone age hoarse cry

• Gingival fibromatosis with distinctive facies

• Gingival fibromatosis with hypertrichosis

• Gingival fibromatosis, 1

• Gingival fibromatosis, 2

• Gingival fibromatosis, 3

• Gingival fibromatosis, 4

• Glassy cell carcinoma of the cervix

• Glaucoma, hereditary juvenile type 1B

• Glomus vagale tumor

• Glycogen storage disease type 0, liver

• Glycoprotein VI deficiency

• GM2 gangliosidosis, 0 variant

• GM2-gangliosidosis, B, B1, AB variant

• Goldmann-Favre syndrome

• Gonococcal conjunctivitis

• GOSR2-related progressive myoclonus ataxia

• Granulosa cell tumor of the ovary

• Graves' disease

• Green Sandford Davison syndrome

• Growth hormone insensitivity with immunodeficiency

• Guizar Vasquez Sanchez Manzano syndrome

• Hair defect-photosensitivity-intellectual disability syndrome

• Halo nevi

• Hantavirus pulmonary syndrome

• Heart-hand syndrome, Slovenian type

• Heavy metal poisoning

• Hemorrhagic fever

• Hennekam Van der Horst syndrome

• Hepadnavirus infection

• Hepatic veno-occlusive disease

• Hepatic venoocclusive disease with immunodeficiency

• Hereditary peripheral nervous disorder

• Hereditary resistance to anti-vitamin K

• Hereditary sensory and autonomic neuropathy type V

• Hereditary vascular retinopathy

• Herpes simiae (B virus)

• Herpes virus antenatal infection

• Herpesvirus simiae B virus

• HHV-6 encephalitis

• HIVEP2-related intellectual disability

• Holzgreve syndrome

• Horizontal gaze palsy with progressive scoliosis

• HTLV-1 associated myelopathy/tropical spastic paraparesis

• Human spumaretrovirus infection

• Human T-cell leukemia virus type 1

• Human T-cell leukemia virus type 2

• Human T-cell leukemia virus type 3

• Hydroa vacciniforme

• Hydroa vacciniforme, familial

• Hydrocephalus autosomal recessive

• Hydrocephalus due to congenital stenosis of aqueduct of sylvius

• Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly

• Hygroma cervical

• Hypergonadotropic ovarian failure

• Hypersensitivity pneumonitis

• Hypersensitivity vasculitis

• Hypertensive hypokalemia familial

• Hypertrichosis universalis

• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features

• Hypertrophic olivary degeneration

• Hypochromic microcytic anemia with iron overload

• Hypocomplementemic urticarial vasculitis

• Hypoglycemia with deficiency of glycogen synthetase in the liver

• Hypohidrotic ectodermal dysplasia autosomal recessive

• Ichthyosiform erythroderma, corneal involvement, deafness

• Ichthyosis hystrix gravior

• Ichthyosis tapered fingers midline groove up

• Ichthyosis vulgaris

• Ichthyosis with hypotrichosis, autosomal recessive

• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

• Idiopathic alveolar hypoventilation syndrome

• Idiopathic CD4 positive T-lymphocytopenia

• Idiopathic juxtafoveal retinal telangiectasia

• Immotile cilia syndrome, due to defective radial spokes

• Immune deficiency, familial variable

• Immune dysfunction with T-cell inactivation due to calcium entry defect 1

• Immune dysfunction with T-cell inactivation due to calcium entry defect 2

• Imperforate oropharynx-costo vetebral anomalies

• Inclusion conjunctivitis

• Infantile convulsions and paroxysmal choreoathetosis, familial

• Infantile liver failure syndrome 1

• Infantile liver failure syndrome 2

• Infective endocarditis

• Infective myositis

• Inflammatory linear verrucous epidermal nevus

• Infundibulopelvic dysgenesis

• Intellectual disability-developmental delay-contractures syndrome

• Intellectual disability-severe speech delay-mild dysmorphism syndrome

• Intermediate severe Salla disease

• Intracranial arteriovenous malformation

• Intrathoracic kidney vertebral fusion

• Intrauterine growth retardation with increased mitomycin C sensitivity

• Intravascular papillary endothelial hyperplasia

• Intravenous leiomyomatosis

• IRVAN syndrome

• Isolated anterior cervical hypertrichosis

• Isolated levocardia

• Isovaleric acidemia

• Ivemark syndrome

• IVIC syndrome

• Jamaican vomiting sickness

• Jankovic Rivera syndrome

• Jervell and Lange-Nielsen syndrome 2

• Jervell Lange-Nielsen syndrome

• Jeune syndrome situs inversus

• Juvenile amyotrophic lateral sclerosis

• Juvenile dermatomyositis

• Juvenile Huntington disease

• Juvenile macular degeneration and hypotrichosis

• Juvenile myelomonocytic leukemia

• Juvenile myoclonic epilepsy

• Juvenile ossifying fibroma

• Juvenile osteoporosis

• Juvenile Paget disease

• Juvenile polymyositis

• Juvenile polyposis syndrome

• Juvenile primary lateral sclerosis

• Juvenile retinoschisis

• Juvenile spondyloarthropathy

• Juvenile temporal arteritis

• Juvenile-onset dystonia

• Juvenile-onset small-fiber polyneuropathy

• Keratosis follicularis spinulosa decalvans

• Kleine Levin syndrome

• Kluver Bucy syndrome

• Koolen de Vries syndrome

• Kozlowski Ouvrier syndrome

• KSHV inflammatory cytokine syndrome

• Left ventricular noncompaction

• Legg-Calve-Perthes disease

• Leiomyoma of vulva and esophagus

• Leiomyomatosis, esophageal and vulval, with nephropathy

• Leucine-sensitive hypoglycemia of infancy

• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate

• Leukoencephalopathy with vanishing white matter

• Levator syndrome

• Levic Stefanovic Nikolic syndrome

• Levotransposition of the great arteries

• Levy-Yeboa syndrome

• Ligneous conjunctivitis

• Linear and whorled nevoid hypermelanosis

• Linear nevus sebaceous syndrome

• Lip and oral cavity cancer

• Livedoid vasculopathy

• Logopenic progressive aphasia

• Lymphedema and cerebral arteriovenous anomaly

• Lymphocytic vasculitis

• Lymphogranuloma venereum

• Macrophage activation syndrome

• Macrothrombocytopenia progressive deafness

• Macular dystrophy, atypical vitelliform

• Mahvash disease

• Male pseudohermaphroditism due to defective LH molecule

• Male pseudohermaphroditism intellectual disability syndrome, Verloes type

• Malignant peripheral nerve sheath tumor

• Manouvrier syndrome

• Marburg hemorrhagic fever

• Marchiafava Bignami disease

• Marfanoid habitus-autosomal recessive intellectual disability syndrome

• Markel Vikkula Mulliken syndrome

• Marphanoid syndrome type De Silva

• Mast cell activation syndrome

• Mastocytosis cutaneous with short stature conductive hearing loss and microtia

• Mastroiacovo De Rosa Satta syndrome

• Mastroiacovo Gambi Segni syndrome

• McGillivray syndrome

• Membranoproliferative glomerulonephritis

• Mesangial proliferative glomerulonephritis

• Mesangioproliferative glomerulopathy

• Mesomelic dysplasia Savarirayan type

• Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

• Metaphyseal undermodeling, spondylar dysplasia, and overgrowth

• Mevalonic aciduria

• Microcephaly cervical spine fusion anomalies

• Microcephaly chorioretinopathy recessive form

• Microcephaly microcornea syndrome Seemanova type

• Microcephaly micropenis convulsions

• Microcornea posterior megalolenticonus persistent fetal vasculature coloboma

• Microtia, meatal atresia and conductive deafness

• Microvillus inclusion disease

• Mitochondrial complex V deficiency

• Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia

• Mitral valve prolapse, familial, autosomal dominant

• Mitral valve prolapse, familial, X-linked

• Mixed connective tissue disease

• Monoclonal mast cell activation syndrome

• Morvan's fibrillary chorea

• Mosaic variegated aneuploidy syndrome

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

• Mucopolysaccharidosis type IV

• Mucopolysaccharidosis type IVA

• Mucopolysaccharidosis type VI

• Mucopolysaccharidosis type VII

• Muscular dystrophy, congenital, merosin-positive

• Muscular fibrosis multifocal obstructed vessels

• Mutagen sensitivity

• Myasthenia gravis

• Myasthenia gravis congenital

• Myasthenia gravis, limb-girdle

• Mycobacterium Avium Complex

• Myelodysplastic/myeloproliferative disease

• Myoclonus hereditary progressive distal muscular atrophy

• Nasal cavity cancer, childhood

• Native American myopathy

• Negative rheumatoid factor polyarthritis

• Neonatal ovarian cyst

• Neonatal severe hyperparathyroidism

• Neu Laxova syndrome

• Neuroendocrine carcinoma of the cervix

• Nevi flammei, familial multiple

• Nevoid basal cell carcinoma syndrome

• Nevus comedonicus

• Nevus comedonicus syndrome

• Nevus mucinosis

• Nevus of Ito

• Nievergelt syndrome

• Nipah virus encephalitis

• Nodular nonsuppurative panniculitis

• Nodular regenerative hyperplasia

• Non-involuting congenital hemangioma

• Nova syndrome

• Novak syndrome

• Nystagmus, congenital motor, autosomal recessive

• Nystagmus, hereditary vertical

• Oculo-auriculo-vertebral spectrum

• Oculodentoosseous dysplasia recessive

• Ogilvie syndrome

• Oliver syndrome

• Olivopontocerebellar atrophy

• Olivopontocerebellar atrophy deafness

• Omsk hemorrhagic fever

• Opthalmoplegia progressive external scoliosis

• Optic nerve hypoplasia, familial bilateral

• Opticoacoustic nerve atrophy dementia

• Orbital varix

• Orstavik Lindemann Solberg syndrome

• Osteogenesis imperfecta Levin type

• Osteogenesis imperfecta type IV

• Osteogenesis imperfecta type V

• Osteogenesis imperfecta type VI

• Osteogenesis imperfecta type VII

• Osteogenesis imperfecta type VIII

• Osteolysis syndrome recessive

• Osteopetrosis autosomal recessive 1

• Osteopetrosis autosomal recessive 2

• Osteopetrosis autosomal recessive 3

• Osteopetrosis autosomal recessive 4

• Osteopetrosis autosomal recessive 5

• Osteopetrosis autosomal recessive 6

• Osteopetrosis autosomal recessive 7

• Osteosclerosis abnormalities of nervous system and meninges

• Osteosclerosis with ichthyosis and premature ovarian failure

• Otofaciocervical syndrome

• Ouvrier Billson syndrome

• Ovarian cancer

• Ovarian carcinosarcoma

• Ovarian epithelial cancer

• Ovarian germ cell tumor

• Ovarian insufficiency due to FSH resistance

• Ovarian insufficiency, familial

• Ovarian low malignant potential tumor

• Ovarian remnant syndrome

• Ovarian sex cord tumor with annular tubules

• Ovarian small cell carcinoma

• Overgrowth radial ray defect arthrogryposis

• Painful legs and moving toes syndrome

• Panuveitis

• Papillon Lefevre syndrome

• Papular epidermal nevi with skyline basal cell layers syndrome

• Parainfluenza virus type 3

• Paralysis agitans, juvenile, of Hunt

• Paroxysmal ventricular fibrillation

• Partial androgen insensitivity syndrome

• Partial atrioventricular canal

• Parvovirus antenatal infection

• Patent ductus venosus

• Patterson-Stevenson-Fontaine syndrome

• Pauciarticular onset juvenile idiopathic arthritis

• Pediatric ulcerative colitis

• Pelvic dysplasia arthrogryposis of lower limbs

• Pelvic lipomatosis

• Pemphigus and fogo selvagem

• Pemphigus vulgaris

• Periodic fever, aphthous stomatitis, pharyngitis and adenitis

• Periventricular heterotopia

• Periventricular leukomalacia

• Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly

• Phacomatosis pigmentovascularis

• PHAVER syndrome

• Philadelphia-negative chronic myeloid leukemia

• Photosensitive epilepsy

• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies

• Pigmented villonodular synovitis

• PIK3CA-related overgrowth spectrum

• Pili torti developmental delay neurological abnormalities

• Pilodental dysplasia with refractive errors

• Pityriasis lichenoides et varioliformis acuta

• Plasminogen activator inhibitor type 1 deficiency

• Pleoconial myopathy with salt craving

• Plummer Vinson syndrome

• Polyarticular onset juvenile idiopathic arthritis

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polycystic liver disease

• Polycythemia vera

• Polydactyly postaxial dental and vertebral

• Polyomavirus allograft nephropathy

• Positive rheumatoid factor polyarthritis

• Post-transplant lymphoproliferative disease

• Posterior urethral valves

• Posterior uveitis

• Posterior valve urethra

• Postnatal progressive microcephaly, seizures, and brain atrophy

• Potassium aggravated myotonia

• Primary angiitis of the central nervous system

• Primary central nervous system lymphoma

• Primary liver cancer

• Primary malignant melanoma of the cervix

• Primary malignant melanoma of the conjunctiva

• Primary melanoma of the central nervous system

• Primary open angle glaucoma juvenile onset 1

• Primary progressive aphasia

• Prinzmetal's variant angina

• Progeria variant syndrome Ruvalcaba type

• Progeroid short stature with pigmented nevi

• Progressive bifocal chorioretinal atrophy

• Progressive black carbon hyperpigmentation of infancy

• Progressive bulbar palsy

• Progressive deafness with stapes fixation

• Progressive encephalomyelitis with rigidity and myoclonus

• Progressive external ophthalmoplegia, autosomal recessive 1

• Progressive familial heart block type 1A

• Progressive familial heart block type 1B

• Progressive familial heart block type 2

• Progressive familial intrahepatic cholestasis 1

• Progressive familial intrahepatic cholestasis type 2

• Progressive familial intrahepatic cholestasis type 3

• Progressive hemifacial atrophy

• Progressive kinking of the hair, acquired

• Progressive multifocal leukoencephalopathy

• Progressive myoclonic epilepsy

• Progressive non-fluent aphasia

• Progressive osseous heteroplasia

• Progressive pseudorheumatoid dysplasia

• Progressive supranuclear palsy

• Progressive supranuclear palsy atypical

• Progressive transformation of germinal centers

• Proliferative verrucous leukoplakia

• Pseudo-Von Willebrand disease

• Psoriatic juvenile idiopathic arthritis

• Pterygium of the conjunctiva and cornea

• Pulmonary alveolar microlithiasis

• Pulmonary arterio-veinous fistula

• Pulmonary arteriovenous malformation

• Pulmonary atresia with intact ventricular septum

• Pulmonary atresia with ventricular septal defect

• Pulmonary supravalvular stenosis

• Pulmonary valve stenosis

• Pulmonary valves agenesis

• Pulmonary vein stenosis

• Pulmonary venoocclusive disease

• Pulmonary venous return anomaly

• Pyruvate carboxylase deficiency

• Pyruvate decarboxylase deficiency

• Pyruvate dehydrogenase complex deficiency

• Pyruvate dehydrogenase phosphatase deficiency

• Pyruvate kinase deficiency

• Pyruvate kinase deficiency, liver type

• Pyruvate kinase deficiency, muscle type

• Q fever

• Quinquaud's decalvans folliculitis

• Rat bite fever

• Reactive angioendotheliomatosis

• Reactive arthritis

• Reardon Wilson Cavanagh syndrome

• Recessive dystrophic epidermolysis bullosa-generalized other

• Reductional transverse limb defects

• Renal caliceal diverticuli deafness

• Renal dysplasia diffuse autosomal recessive

• Renal tubular acidosis, distal, autosomal recessive

• Renoprival hypertension

• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

• Retinal vasculopathy with cerebral leukodystrophy

• Retinoschisis of Fovea

• Reversible cerebral vasoconstriction syndrome

• Revesz syndrome

• Rhabdomyosarcoma alveolar

• Rheumatic Fever

• Rheumatoid vasculitis

• Riboflavin transporter deficiency

• Richieri Costa Da Silva syndrome

• Right ventricle hypoplasia

• Rocky mountain spotted fever

• Roussy Levy syndrome

• Russell-Silver syndrome

• Ruvalcaba Churesigaew Myhre syndrome

• Ruvalcaba syndrome

• Salivary gland cancer, adult

• Salivary gland cancer, childhood

• Samson Viljoen syndrome

• Saul Wilkes Stevenson syndrome

• Scurvy

• Seaver Cassidy syndrome

• Seizures benign familial neonatal recessive form

• Selective IgM deficiency

• Sennetsu Fever

• Severe achondroplasia with developmental delay and acanthosis nigricans

• Severe combined immunodeficiency

• Severe combined immunodeficiency due to complete RAG1/2 deficiency

• Severe combined immunodeficiency with sensitivity to ionizing radiation

• Severe combined immunodeficiency, atypical

• Severe congenital nemaline myopathy

• Severe congenital neutropenia autosomal dominant

• Severe congenital neutropenia autosomal recessive 3

• Severe congenital neutropenia X-linked

• Severe generalized recessive dystrophic epidermolysis bullosa

• Severe infantile axonal neuropathy

• Severe intellectual disability-progressive spastic diplegia syndrome

• Severe X-linked intellectual disability, Gustavson type

• Shaver's disease

• Short limb dwarf lethal Colavita Kozlowski type

• Short stature dysmorphic face pelvic scapula dysplasia

• Short stature valvular heart disease

• Sideroblastic anemia pyridoxine-refractory autosomal recessive

• Sideroblastic anemia pyridoxine-responsive autosomal recessive

• Silvery hair syndrome

• Simian B virus infection

• Single ventricular heart

• Situs inversus

• Situs inversus totalis with cystic dysplasia of kidneys and pancreas

• Sixth nerve palsy

• Sjogren's syndrome, juvenile, secondary to autoimmune disease

• Slavotinek Pike Mills Hurst syndrome

• Snowflake vitreoretinal degeneration

• Sohval Soffer syndrome

• Spastic ataxia Charlevoix-Saguenay type

• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

• Spinocerebellar ataxia autosomal recessive 3

• Spinocerebellar ataxia autosomal recessive 4

• Spinocerebellar ataxia autosomal recessive 5

• Spinocerebellar ataxia autosomal recessive 6

• Spinocerebellar ataxia autosomal recessive 7

• Spinocerebellar ataxia autosomal recessive 8

• Spinocerebellar ataxia autosomal recessive with axonal neuropathy

• Spitz nevus

• Split hand split foot malformation autosomal recessive

• Spondyloepimetaphyseal dysplasia Genevieve type

• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

• Spotted fever

• Sternal cyst vascular anomalies

• Sternal malformation vascular dysplasia associatio

• Stevens-Johnson syndrome

• Stewart Treves syndrome

• STING-associated vasculopathy with onset in infancy

• Stoelinga de Koomen Davis syndrome

• Streptococcal Group A invasive disease

• Streptococcal Group B invasive disease

• Stuve-Wiedemann syndrome

• Subvalvular aortic stenosis

• Superficial siderosis of the central nervous system

• Superior limbic keratoconjunctivitis

• Supratentorial primitive neuroectodermal tumor

• Supratentorial primitive neuroectodermal tumors, childhood

• Supraumbilical midabdominal raphe and facial cavernous hemangiomas

• Supravalvular aortic stenosis

• Synovial cancer

• Synovial Chondromatosis

• Synovial chondromatosis, familial with dwarfism

• Synovial sarcoma

• Synovitis

• Systemic onset juvenile idiopathic arthritis

• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals

• Talonavicular coalition

• Tarlov cysts

• Taurodontism, microdontia, and dens invaginatus

• Teeth noneruption of with maxillary hypoplasia and genu valgum

• Telangiectasia macularis eruptive perstans

• Thiamine responsive megaloblastic anemia syndrome

• Thickened earlobes with conductive deafness from incus-stapes abnormalities

• Thoraco limb dysplasia Rivera type

• Thoracolaryngopelvic dysplasia

• Thoracopelvic dysostosis

• Thrombocytopenia with elevated serum IgA and renal disease

• Tièche-Jadassohn nevus

• Togaviridae disease

• Tranebjaerg Svejgaard syndrome

• Transient infantile liver failure

• Transient myeloproliferative syndrome

• Transitional cell cancer of the renal pelvis and ureter

• Transverse limb deficiency hemangioma

• Transverse myelitis

• Tuberculous uveitis

• Tubulointerstitial nephritis and uveitis

• Tumefactive multiple sclerosis

• Tumor of cranial and spinal nerves

• Tunglang Savage Bellman syndrome

• Typhoid fever

• Ulcerative proctitis

• Unverricht-Lundborg disease

• Uropathy distal obstructive polydactyly

• UV sensitive syndrome

• Uveal coloboma-cleft lip and palate-intellectual disability

• Uveal diseases

• VACTERL association

• VACTERL association with hydrocephaly, X-linked

• VACTERL hydrocephaly

• Vagina, absence of

• Vaginal cancer

• Vagneur Triolle Ripert syndrome

• Valinemia

• Van Allen Myhre syndrome

• Van Benthem-Driessen-Hanveld syndrome

• Van Bogaert-Hozay syndrome

• Van Buchem disease type 2

• Van Den Bosch syndrome

• Van der Woude syndrome

• Van der Woude syndrome 2

• Van Regemorter Pierquin Vamos syndrome

• Variant Creutzfeldt-Jakob disease

• Variegate porphyria

• Vascular Ehlers-Danlos syndrome

• Vascular hyalinosis

• Vasquez Hurst Sotos syndrome

• Vein of Galen aneurysm

• Velofacioskeletal syndrome

• Venezuelan equine encephalitis

• Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence

• Ventricular fibrillation, idiopathic

• Ventricular septal defects

• Ventriculo-arterial discordance, isolated

• Ventruto Digirolamo Festa syndrome

• Verloes Bourguignon syndrome

• Verloes Van Maldergem Marneffe syndrome

• Verloove Vanhorick Brubakk syndrome

• Vernal keratitis

• Vernal keratoconjunctivitis

• Verrucous nevus acanthokeratolytic

• Vertebral body fusion overgrowth

• Vertebral fusion posterior lumbosacral blepharoptosis

• Vestibulocochlear dysfunction, progressive

• Vibratory urticaria

• Vibrio vulnificus infection

• Vici syndrome

• Viljoen Kallis Voges syndrome

• Viljoen Winship syndrome

• VIPoma

• Viral hemorrhagic fever

• Virilizing ovarian tumor

• Virus associated hemophagocytic syndrome

• Visceral neuropathy familial

• Visceral steatosis

• Visual pathway and hypothalamic glioma, childhood

• Visual snow syndrome

• Vitamin A embryopathy

• Vitamin B12-responsive methylmalonic acidemia

• Vitreoretinal degeneration

• Vitreoretinochoroidopathy dominant

• VLCAD deficiency

• Vocal cord dysfunction familial

• Vogt-Koyanagi-Harada disease

• Vohwinkel syndrome

• Von Hippel-Lindau disease

• Vulvar cancer

• Vulvar Vestibulitis Syndrome

• Warfarin sensitivity

• Weaver Johnson syndrome

• Weaver syndrome

• Weaver Williams syndrome

• Wells-Jankovic syndrome

• West nile virus

• Whistling face syndrome, recessive form

• White sponge nevus of cannon

• Wildervanck syndrome

• Wilkes Stevenson syndrome

• Willems De vries syndrome

• Woolly hair hypotrichosis everted lower lip and outstanding ears

• X-linked lymphoproliferative syndrome

• X-linked lymphoproliferative syndrome 1

• X-linked lymphoproliferative syndrome 2

• X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia

• X-linked myopathy with excessive autophagy

• X-linked periventricular heterotopia

• X-linked severe combined immunodeficiency

• X-linked visceral heterotaxy 1

• Xeroderma pigmentosum, variant type

• Y chromosome pericentric inversion

• Yellow fever

• Yunis-Varon syndrome

• Zadik Barak Levin syndrome

• Zika virus infection