R

• 10q22.3q23 microdeletion syndrome

• 11-beta-hydroxylase deficiency

• 12q14 microdeletion syndrome

• 15q11.2 microdeletion

• 15q13.3 microdeletion syndrome

• 15q13.3 microduplication syndrome

• 15q24 microdeletion syndrome

• 16p11.2 deletion syndrome

• 16p13.11 microduplication syndrome

• 16q24.3 microdeletion syndrome

• 17-alpha-hydroxylase deficiency

• 17-beta hydroxysteroid dehydrogenase 3 deficiency

• 17q12 deletion syndrome

• 17q23.1q23.2 microdeletion syndrome

• 18 Hydroxylase deficiency

• 19p13.12 microdeletion syndrome

• 1q21.1 microdeletion syndrome

• 1q44 microdeletion syndrome

• 2,4-Dienoyl-CoA reductase deficiency

• 2-hydroxyethyl methacrylate sensitization

• 2-Hydroxyglutaric aciduria

• 2-methyl-3-hydroxybutyric aciduria

• 2-methylbutyryl-CoA dehydrogenase deficiency

• 20p12.3 microdeletion syndrome

• 21-hydroxylase deficiency

• 22q11.2 deletion syndrome

• 22q11.2 duplication syndrome

• 22q13.3 deletion syndrome

• 2p15p16.1 microdeletion syndrome

• 2q23.1 microdeletion syndrome

• 2q37 deletion syndrome

• 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency

• 3 Methylcrotonyl-CoA carboxylase 1 deficiency

• 3 methylglutaconic aciduria type V

• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

• 3-beta-hydroxysteroid dehydrogenase deficiency

• 3-Hydroxyisobutyric aciduria

• 3-methylcrotonyl-CoA carboxylase deficiency

• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

• 3M syndrome

• 3MC syndrome

• 3q29 microdeletion syndrome

• 4-hydroxyphenylacetic aciduria

• 46, XY disorders of sexual development

• 46,XX Gonadal dysgenesis epibulbar dermoid

• 46,XX testicular disorder of sex development

• 47 XXX syndrome

• 47, XYY syndrome

• 48,XXXY syndrome

• 48,XXYY syndrome

• 49, XXXYY syndrome

• 49,XXXXX syndrome

• 49,XXXXY syndrome

• 5-alpha reductase deficiency

• 5-Nucleotidase syndrome

• 5-oxoprolinase deficiency

• 5q- syndrome

• 5q14.3 microdeletion syndrome

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• 7q11.23 duplication syndrome

• 8p23.1 duplication syndrome

• 8q12 microduplication syndrome

• Aagenaes syndrome

• Aarskog syndrome

• Abderhalden Kaufmann Lignac syndrome

• Abdominal aortic aneurysm

• Abdominal obesity metabolic syndrome

• Aberrant subclavian artery

• Abetalipoproteinemia

• Ablepharon macrostomia syndrome

• Abruzzo-Erickson syndrome

• Absence of fingerprints congenital milia

• Absent breasts and nipples

• Acalvaria

• Acanthamoeba keratitis

• Acanthosis nigricans muscle cramps acral enlargement

• Acardia

• Accessory deep peroneal nerve

• Accessory pancreas

• Aceruloplasminemia

• Acetyl CoA acetyltransferase 2 deficiency

• Acetyl-carnitine deficiency

• Achalasia microcephaly syndrome

• Achard syndrome

• Achard Thiers syndrome

• Acheiropody

• Achondrogenesis

• Achondrogenesis type 1A

• Achondrogenesis type 1B

• Achondrogenesis type 2

• Achondroplasia

• Achondroplasia and severe combined immunodeficiency

• Achondroplasia and Swiss type agammaglobulinemia

• Achromatopsia 2

• Achromatopsia 3

• Acinic cell carcinoma

• Acitretin embryopathy

• Ackerman syndrome

• Acoustic neuroma

• Acquired agranulocytosis

• Acquired amegakaryocytic thrombocytopenia

• Acquired angioedema

• Acquired fructose intolerance

• Acquired hemophilia

• Acquired hemophilia A

• Acquired hypoprothrombinemia

• Acquired pure red cell aplasia

• Acquired Von Willebrand syndrome

• Acral dysostosis dyserythropoiesis syndrome

• Acral lentiginous melanoma

• Acral peeling skin syndrome

• Acro coxo mesomelic dysplasia

• Acro-pectoro-renal field defect

• Acrocallosal syndrome, Schinzel type

• Acrocapitofemoral dysplasia

• Acrocephalopolydactylous dysplasia

• Acrocephalopolydactyly

• Acrodermatitis

• Acrodermatitis enteropathica

• Acrodysostosis

• Acrodysplasia scoliosis

• Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia

• Acrofacial dysostosis Catania type

• Acrofacial dysostosis Palagonia type

• Acrofacial dysostosis Preis type

• Acrofacial dysostosis Rodriguez type

• Acrofrontofacionasal dysostosis syndrome

• Acrogeria, Gottron type

• Acrokeratoelastoidosis of Costa

• Acromegaloid changes, cutis verticis gyrata and corneal leukoma

• Acromegaloid facial appearance syndrome

• Acromegaloid features, overgrowth, cleft palate and hernia

• Acromegaloid hypertrichosis syndrome

• Acromegaly

• Acromelanosis

• Acromelic frontonasal dysostosis

• Acromesomelic dysplasia

• Acromesomelic dysplasia Campailla Martinelli type

• Acromesomelic dysplasia Hunter Thompson type

• Acromesomelic dysplasia Maroteaux type

• Acromicric dysplasia

• Acroosteolysis dominant type

• Acropectoral syndrome

• Acropectorovertebral dysplasia F form

• Acrorenal mandibular syndrome

• Acrorenal syndrome recessive

• Acrospiroma

• ACSL4-related intellectual disability

• ACTG2-related disorders

• ACTH-independent macronodular adrenal hyperplasia

• ACTH-secreting pituitary adenoma

• Acute articular rheumatism

• Acute cholinergic dysautonomia

• Acute erythroid leukemia

• Acute fatty liver of pregnancy

• Acute febrile neutrophilic dermatosis

• Acute graft versus host disease

• Acute hemorrhagic leukoencephalitis

• Acute intermittent porphyria

• Acute interstitial pneumonia

• Acute lymphoblastic leukemia congenital sporadic aniridia

• Acute megakaryoblastic leukemia

• Acute myeloblastic leukemia with maturation

• Acute myeloblastic leukemia without maturation

• 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 myeloid leukemia with recurrent genetic anomaly

• Acute necrotizing encephalopathy

• Acute necrotizing ulcerative gingivitis

• Acute panmyelosis with myelofibrosis

• Acute posterior multifocal placoid pigment epitheliopathy

• Acute promyelocytic leukemia

• Acute respiratory distress syndrome

• Acute zonal occult outer retinopathy

• Adactylia unilateral

• Adams-Oliver syndrome

• ADCY5-related dyskinesia

• Adducted thumbs Dundar type

• Adenine phosphoribosyltransferase deficiency

• Adenocarcinoid tumor

• Adenocarcinoma of the appendix

• Adenoid cystic carcinoma

• Adenoma of the adrenal gland

• Adenosarcoma of the uterus

• Adenosquamous carcinoma of the endometrium

• Adermatoglyphia

• Adie syndrome

• Adiposis dolorosa

• Adnexal spiradenoma/cylindroma of a sweat gland

• ADNP syndrome

• Adrenal cancer

• Adrenal medulla cancer

• Adrenocortical carcinoma

• Adrenomyeloneuropathy

• Adrenomyodystrophy

• Adult neuronal ceroid lipofuscinosis

• Adult progressive spinal muscular atrophy Aran Duchenne type

• ADULT syndrome

• Adult-onset citrullinemia type II

• Adult-onset dystonia-parkinsonism

• Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

• Adult-onset vitelliform macular dystrophy

• Advanced sleep phase syndrome, familial

• Adverse events of 5-alpha-reductase inhibitors

• Aerobic actinomyces infection

• Afibrinogenemia

• Agammaglobulinemia, microcephaly, and severe dermatitis

• Agammaglobulinemia, non-Bruton type

• Agenesis of the dorsal pancreas

• Aggressive NK cell leukemia

• Aglossia and Situs Inversus

• Agnathia-microstomia-synotia

• Agyria pachygyria polymicrogyria

• Agyria-pachygyria type 1

• Ahumada Del Castillo syndrome

• Aicardi syndrome

• Aicardi-Goutieres syndrome

• Aicardi-Goutieres syndrome type 1

• Aicardi-Goutieres syndrome type 2

• Aicardi-Goutieres syndrome type 3

• Aicardi-Goutieres syndrome type 4

• Aicardi-Goutieres syndrome type 5

• AIDS dysmorphic syndrome

• Airway-centered interstitial fibrosis

• Akaba Hayasaka syndrome

• Akesson syndrome

• Aksu von Stockhausen syndrome

• Al Gazali Aziz Salem syndrome

• Al Gazali Khidr Prem Chandran syndrome

• Al Gazali Sabrinathan Nair syndrome

• Al Gazali syndrome

• Al-Awadi-Raas-Rothschild syndrome

• Al-Gazali-Donnai-Mueller syndrome

• Alagille syndrome

• Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus

• Albinism deafness syndrome

• Albinism ocular late onset sensorineural deafness

• Albright like syndrome

• Albright's hereditary osteodystrophy

• Aldred syndrome

• Alexander disease

• Alezzandrini syndrome

• Alkaptonuria

• Allain-Babin-Demarquez syndrome

• Allan-Herndon-Dudley syndrome

• Allergic angiitis

• Allergic bronchopulmonary aspergillosis

• Allergic encephalomyelitis

• Aloi Tomasini Isaia syndrome

• Alopecia epilepsy oligophrenia syndrome of Moynahan

• Alopecia intellectual disability syndrome 2

• Alopecia macular degeneration growth retardation

• Alopecia universalis

• Alopecia universalis onychodystrophy vitiligo

• Alopecia, epilepsy, pyorrhea, mental subnormality

• Alopecia-contractures-dwarfism-intellectual disability syndrome

• Alopecia-intellectual disability syndrome

• Alpers syndrome

• Alpha-1 antitrypsin deficiency

• Alpha-ketoglutarate dehydrogenase deficiency

• Alpha-thalassemia x-linked intellectual disability syndrome

• Alpha-thalassemia-abnormal morphogenesis

• Alport syndrome

• Alsing syndrome

• Alström syndrome

• Alternating hemiplegia of childhood

• Alveolar capillary dysplasia

• Alveolar echinococcosis

• Alveolar soft part sarcoma

• Alzheimer's disease without neurofibrillary tangles

• Amaurosis congenita cone-rod type with congenital hypertrichosis

• Amaurosis fugax

• Ambras syndrome

• Amelia cleft lip palate hydrocephalus iris coloboma

• Ameloblastic carcinoma

• Amelogenesis imperfecta

• Amelogenesis imperfecta hypomaturation type

• Amelogenesis imperfecta hypoplastic type, IG

• Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1

• Amelogenesis imperfecta local hypoplastic

• Amelogenesis imperfecta nephrocalcinosis

• Amelogenesis imperfecta pigmented hypomaturation type

• Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

• Ameloonychohypohidrotic syndrome

• Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis

• Aminoaciduria

• Aminolevulinate dehydratase deficiency porphyria

• Amish lethal microcephaly

• AML with myelodysplasia-related features

• Amniotic band syndrome

• Amoebiasis due to free-living amoebae

• Ampola syndrome

• Amyloid neuropathy

• Amyloidosis bronchopulmonary

• Amyloidosis corneal

• Amyloidosis familial visceral

• Amyloidosis nodular localized cutaneous

• Amyopathic dermatomyositis

• Amyotrophic lateral sclerosis

• Amyotrophic lateral sclerosis type 10

• Amyotrophic lateral sclerosis type 11

• Amyotrophic lateral sclerosis type 2

• Amyotrophic lateral sclerosis type 3

• Amyotrophic lateral sclerosis type 4

• Amyotrophic lateral sclerosis type 5

• Amyotrophic lateral sclerosis type 6

• Amyotrophic lateral sclerosis type 7

• Amyotrophic lateral sclerosis type 8

• Amyotrophic lateral sclerosis type 9

• Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1

• Amyotrophy, neurogenic scapuloperoneal, New England type

• Anal cancer

• Anal sphincter dysplasia

• Anaplastic astrocytoma

• Anaplastic large cell lymphoma

• Anaplastic oligoastrocytoma

• Anaplastic oligodendroglioma

• Anaplastic thyroid cancer

• Andermann syndrome

• Andersen-Tawil syndrome

• Androgen insensitivity syndrome

• Androgen insensitivity syndrome, mild

• Anemia due to Adenosine triphosphatase deficiency

• Anemia sideroblastic and spinocerebellar ataxia

• Aneurysm of sinus of Valsalva

• Aneurysm, intracranial berry, 2

• Aneurysmal bone cysts

• Angelman syndrome

• Angiofollicular lymph hyperplasia

• Angioimmunoblastic lymphadenopathy with dysproteinemia

• Angioma hereditary neurocutaneous

• Angioma serpiginosum, autosomal dominant

• Angioma serpiginosum, X-linked

• Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert

• Angiomatosis, leptomeningeal capillary venous

• Angiomatous lymphoid hamartoma

• Angiomyomatous Hamartoma

• Angiosarcoma of the breast

• Angiosarcoma of the liver

• Angiosarcoma of the scalp

• Angiostrongyliasis

• Aniridia

• Aniridia - ptosis - intellectual disability - familial obesity

• Aniridia absent patella

• Aniridia renal agenesis psychomotor retardation

• Ankle defects short stature

• Ankyloblepharon filiforme adnatum cleft palate

• Ankyloblepharon filiforme imperforate anus

• Ankylosing vertebral hyperostosis with tylosis

• Ankyrin-B syndrome

• Annular atrophic lichen planus

• Annular constricting bands

• Annular lichen planus

• Annular pancreas

• Anomalous origin of right pulmonary artery familial

• Anonychia ectrodactyly

• Anonychia total with microcephaly

• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly

• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

• Anophthalmia cleft lip palate hypothalamic disorder

• Anophthalmia cleft palate micrognathia

• Anophthalmia esophageal atresia cryptorchidism

• Anophthalmia megalocornea cardiopathy skeletal anomalies

• Anophthalmia microcephaly hypogonadism

• Anophthalmia plus syndrome

• Anorchia

• Anotia facial palsy cardiac defect

• Antecubital pterygium

• Anterior ischemic optic neuropathy

• Anterior pituitary insufficiency, familial

• Anterior segment dysgenesis

• Anterior spinal artery stroke

• Anterior uveitis

• Anthrax

• Anti-HLA hyperimmunization

• Antigen-peptide-transporter 2 deficiency

• Antihypertensive drugs antenatal exposure

• Antiphospholipid syndrome

• Antisynthetase syndrome

• Antley Bixler syndrome

• Anton's syndrome

• Aorta-pulmonary artery fistula

• Aortic aneurysm, familial thoracic 4

• Aortic arch anomaly - peculiar facies - intellectual disability

• Aortic arch interruption

• Aortic arches defect

• Aortic coarctation

• Aortic dissection lentiginosis

• Aortic valve stenosis

• Aortic valves stenosis of the child

• Aortopulmonary window

• Apert like polydactyly syndrome

• Apert syndrome

• Aphalangia partial with syndactyly and duplication of metatarsal IV

• Aplasia cutis autosomal recessive

• Aplasia cutis congenita of limbs recessive

• Aplasia cutis congenita recessive

• Apocrine carcinoma

• Apolipoprotein C 2I deficiency

• Apparent mineralocorticoid excess

• Apraxia

• Aquagenic pruritus

• Aquagenic syringeal acrokeratoderm

• Aquagenic urticaria

• Arachindonic acid, absence of

• Arachnodactyly - intellectual disability - dysmorphism

• Arachnoid cysts

• Arachnoiditis

• Arbovirosis

• AREDYLD

• Arena syndrome

• Arginase deficiency

• Argininosuccinic aciduria

• Arhinia choanal atresia microphthalmia

• Arnold Stickler Bourne syndrome

• Aromatase deficiency

• Aromatase excess syndrome

• Aromatic L-amino acid decarboxylase deficiency

• Arrhinia

• Arrhythmogenic right ventricular dysplasia

• Arroyo Garcia Cimadevilla syndrome

• Arterial calcification of infancy

• Arterial tortuosity syndrome

• Arthritis short stature deafness

• Arthrochalasia Ehlers-Danlos syndrome

• Arthrogryposis and ectodermal dysplasia

• Arthrogryposis due to muscular dystrophy

• Arthrogryposis epileptic seizures migrational brain disorder

• Arthrogryposis IUGR thoracic dystrophy

• Arthrogryposis like disorder

• Arthrogryposis multiplex congenita

• Arthrogryposis multiplex congenita CNS calcification

• Arthrogryposis multiplex congenita neurogenic type

• Arthrogryposis multiplex congenita pulmonary hypoplasia

• Arthrogryposis multiplex congenita whistling face

• Arthrogryposis multiplex congenita, distal, X-linked

• Arthrogryposis multiplex with deafness, inguinal hernias, and early death

• Arthrogryposis renal dysfunction cholestasis syndrome

• Arthrogryposis spinal muscular atrophy

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

• Arthrogryposis-like hand anomaly and sensorineural deafness

• Arts syndrome

• ARX-related intellectual disability

• Ascher Syndrome

• Asherman's syndrome

• Aspartylglycosaminuria

• Aspergillosis

• Aspergillus niger infection

• Asphyxia neonatorum

• Asrar Facharzt Haque syndrome

• Asternia

• Asternia with Cardiac, Diaphragmatic, and Abdominal defects

• Astley-Kendall syndrome

• Astroblastoma

• Ataxia - hypogonadism - choroidal dystrophy

• Ataxia-oculomotor apraxia type 1

• Ataxia-oculomotor apraxia type 4

• Ataxia-oculomotor apraxia-3

• Athabaskan brainstem dysgenesis

• Atkin syndrome

• Atransferrinemia

• Atresia of small intestine

• Atrial myxoma, familial

• Atrial septal defect coronary sinus

• Atrial septal defect ostium primum

• Atrial septal defect sinus venosus

• Atrioventricular septal defect

• Atrophic lichen planus

• Atrophoderma of Pierini and Pasini

• Atrophoderma vermiculata

• Atypical hemolytic uremic syndrome

• Atypical mycobacteriosis, familial

• Atypical Rett syndrome

• Atypical Werner syndrome

• Auditory neuropathy spectrum disorder

• Auralcephalosyndactyly

• Auriculo-condylar syndrome

• Auriculoosteodysplasia

• Ausems Wittebol-Post Hennekam syndrome

• Autism with port-wine stain

• Autoimmune enteropathy

• Autoimmune gastrointestinal dysmotility

• Autoimmune Inner Ear disease

• Autoimmune lymphoproliferative syndrome

• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

• Autoimmune myocarditis

• Autoimmune oophoritis

• Autoimmune pancreatitis

• Autoimmune polyglandular syndrome type 1

• Autoimmune polyglandular syndrome type 2

• Autoimmune polyglandular syndrome type 3

• Autoimmune progesterone dermatitis

• Autoimmune pulmonary alveolar proteinosis

• Autoimmune retinopathy

• Autosomal dominant Alport syndrome

• Autosomal dominant centronuclear myopathy

• Autosomal dominant cerebellar ataxia

• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

• Autosomal dominant compelling helio ophthalmic outburst syndrome

• Autosomal dominant deafness-onychodystrophy syndrome

• Autosomal dominant hyper IgE syndrome

• Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant leukodystrophy with autonomic disease

• Autosomal dominant neuronal ceroid lipofuscinosis 4B

• Autosomal dominant nocturnal frontal lobe epilepsy

• Autosomal dominant non-syndromic intellectual disability

• Autosomal dominant optic atrophy and cataract

• Autosomal dominant optic atrophy plus syndrome

• Autosomal dominant palmoplantar keratoderma and congenital alopecia

• Autosomal dominant partial epilepsy with auditory features

• Autosomal dominant pseudohypoaldosteronism type 1

• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2

• Autosomal dominant spondyloepiphyseal dysplasia tarda

• Autosomal dominant torsion dystonia-4

• Autosomal dominant tubulointerstitial kidney disease

• Autosomal dominant tubulointerstitial kidney disease, MUC1-related

• Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related

• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related

• 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

• Axenfeld-Rieger syndrome

• Axial mesodermal dysplasia spectrum

• Ayazi syndrome

• B cell prolymphocytic leukemia

• Baby rattle pelvic dysplasia

• Bacterial meningitis

• Baetz-Greenwalt syndrome

• Bagatelle Cassidy syndrome

• Bain type of X-linked syndromic intellectual disability

• Baker Vinters syndrome

• Balkan endemic nephropathy

• Baller-Gerold syndrome

• Bamforth syndrome

• Bangstad syndrome

• Banki syndrome

• Bannayan-Riley-Ruvalcaba syndrome

• Banti's syndrome

• Bantu siderosis

• BAP1 tumor predisposition syndrome

• Baraitser Brett Piesowicz syndrome

• Baraitser Rodeck Garner syndrome

• Baraitser-Winter syndrome

• Barakat syndrome

• Barber Say syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome 1

• Bardet-Biedl syndrome 10

• Bardet-Biedl syndrome 11

• Bardet-Biedl syndrome 12

• Bardet-Biedl syndrome 2

• Bardet-Biedl syndrome 3

• Bardet-Biedl syndrome 4

• Bardet-Biedl syndrome 5

• Bardet-Biedl syndrome 6

• Bardet-Biedl syndrome 7

• Bardet-Biedl syndrome 8

• Bardet-Biedl syndrome 9

• Bare lymphocyte syndrome

• Bare lymphocyte syndrome 2

• Baritosis

• Barnicoat Baraitser syndrome

• Baroreflex failure

• Barraquer-Simons syndrome

• Barth syndrome

• Bartter syndrome

• Bartter syndrome antenatal type 1

• Bartter syndrome antenatal type 2

• Bartter syndrome type 3

• Bartter syndrome type 4

• Basal cell carcinoma, infundibulocystic

• Basal cell carcinoma, multiple

• Basal cell nevus anodontia abnormal bone mineralization

• Basaloid follicular hamartoma

• Basaran Yilmaz syndrome

• Bassoe syndrome

• Battaglia-Neri syndrome

• Baylisascaris infection

• Bazex-Dupre-Christol syndrome

• Bd syndrome

• Beare-Stevenson cutis gyrata syndrome

• Becker muscular dystrophy

• Becker nevus syndrome

• Becker's nevus

• Beckwith-Wiedemann syndrome

• Bednar tumor

• Beemer Ertbruggen syndrome

• Behr syndrome

• Ben Ari Shuper Mimouni syndrome

• Benallegue Lacete syndrome

• Benign angiitis of the central nervous system

• Benign eccrine spiradenoma

• Benign essential blepharospasm

• Benign familial neonatal-infantile seizures

• Benign hereditary chorea

• Benign multicystic peritoneal mesothelioma

• Benign paroxysmal positional vertigo

• Benign recurrent intrahepatic cholestasis

• Benign recurrent intrahepatic cholestasis 1

• Benign recurrent intrahepatic cholestasis 2

• Benign rolandic epilepsy (BRE)

• Bent bone dysplasia syndrome

• Beriberi

• Berk-Tabatznik syndrome

• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification

• Beryllium disease

• Best vitelliform macular dystrophy

• Best1 retinopathy

• Beta-Propeller Protein-Associated Neurodegeneration

• Beta-sarcoglycanopathy

• Bidirectional tachycardia

• Biemond syndrome

• Biemond syndrome 2

• Biemond syndrome type 1

• Bier spots

• Bietti crystalline corneoretinal dystrophy

• Bifid nose with or without anorectal and renal anomalies

• Bilateral frontal polymicrogyria

• Bilateral frontoparietal polymicrogyria

• Bilateral generalized polymicrogyria

• Bilateral parasagittal parieto-occipital polymicrogyria

• Bilateral perisylvian polymicrogyria

• Bilateral renal agenesis dominant type

• Bile duct cancer

• Biliary atresia

• Biliary atresia intrahepatic non syndromic form

• Biliary atresia intrahepatic syndromic form

• Biliary hypoplasia

• Biliary tract cancer

• Bilirubin induced brain injury in the newborn

• Billet Bear syndrome

• Binswanger's disease

• Biotin-thiamine-responsive basal ganglia disease

• Birdshot chorioretinopathy

• Birk-Barel syndrome

• Birt-Hogg-Dube syndrome

• Bixler Christian Gorlin syndrome

• Bizzare parosteal osteochondromatous proliferation

• Bjornstad syndrome

• BK-virus nephropathy

• Bladder cancer, childhood

• Blastic plasmacytoid dendritic cell

• Blau syndrome

• Bleeding disorder due to P2RY12 defect

• Blepharo naso facial syndrome Van maldergem type

• Blepharonasofacial malformation syndrome

• Blepharophimosis

• Blepharophimosis intellectual disability syndromes

• Blepharophimosis with ptosis, syndactyly, and short stature

• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1

• Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2

• Blepharoptosis myopia ectopia lentis

• Bloom syndrome

• Blue cone monochromatism

• Blue diaper syndrome

• Blue rubber bleb nevus syndrome

• Bobble-head doll syndrome

• BOD syndrome

• Boerhaave syndrome

• Bohring-Opitz syndrome

• Bone dysplasia corpus callosum agenesis

• Bone dysplasia lethal Holmgren type

• Bone dysplasia Moore type

• Book syndrome

• Boomerang dysplasia

• BOR-Duane hydrocephalus contiguous gene syndrome

• Borjeson-Forssman-Lehmann syndrome

• Bork Stender Schmidt syndrome

• Borrone Di Rocco Crovato syndrome

• Bothriocephalosis

• Boudhina Yedes Khiari syndrome

• Bourneville syndrome

• Bow hunter's stroke

• Bowen-Conradi syndrome

• Bowing of legs, anterior with dwarfism

• Boylan Dew Greco syndrome

• Brachial amelia, forebrain defects and facial clefts

• Brachioskeletogenital syndrome

• Brachycephalofrontonasal dysplasia

• Brachydactylous dwarfism Mseleni type

• Brachydactyly absence of distal phalanges

• Brachydactyly anonychia

• Brachydactyly elbow wrist dysplasia

• Brachydactyly long thumb type

• Brachydactyly Mononen type

• Brachydactyly preaxial with hallux varus and thumb abduction

• Brachydactyly small stature face anomalies

• Brachydactyly tibial hypoplasia

• Brachydactyly type A1

• Brachydactyly type A2

• Brachydactyly type A3

• Brachydactyly type A4

• Brachydactyly type A5

• Brachydactyly type A6

• Brachydactyly type A7

• Brachydactyly type B

• Brachydactyly type C

• Brachydactyly type E

• Brachydactyly types B and E combined

• Brachydactyly with hypertension

• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

• Brachymesomelia renal syndrome

• Brachymesophalangy type 2

• Brachymetapody anodontia hypotrichosis albinoidism

• Brachyolmia

• Brachyolmia type 3

• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

• Braddock Jones Superneau syndrome

• Bradyopsia

• Brain stem cancer

• Brain tumor, adult

• Brain tumor, childhood

• Brain-lung-thyroid syndrome

• Branchial arch defects

• Branchial arch syndrome X-linked

• Branchiooculofacial syndrome

• Branchiootic syndrome

• Branchiootorenal syndrome

• BRCA1 hereditary breast and ovarian cancer syndrome

• BRCA2 hereditary breast and ovarian cancer syndrome

• Breast cancer, childhood

• Breast cancer, male

• Brenner tumor of ovary

• Brenner tumor of the vagina

• Brittle bone syndrome lethal type

• Brittle cornea syndrome

• Brittle diabetes

• Brody myopathy

• Broken heart syndrome

• Bronchial adenomas/carcinoids childhood

• Bronchiectasis oligospermia

• Bronchiolitis obliterans

• Bronchiolitis obliterans organizing pneumonia

• Bronchogenic cyst

• Bronchopulmonary dysplasia

• Brooke-Spiegler syndrome

• Brooks Wisniewski Brown syndrome

• Brown syndrome

• Brown-Sequard syndrome

• Brucellosis

• Bruck syndrome 1

• Bruck syndrome 2

• Brugada syndrome

• Brugada syndrome 3

• Brugada syndrome 4

• Brunsting-Perry syndrome

• Bruyn Scheltens syndrome

• Budd-Chiari syndrome

• Buerger disease

• Bullous dystrophy hereditary macular type

• Burkitt lymphoma

• Burn Goodship syndrome

• Burnett Schwartz Berberian syndrome

• Burning mouth syndrome type 3

• Buruli ulcer

• Buschke Lowenstein tumor

• Buschke Ollendorff syndrome

• Bustos Simosa Pinto Cisternas syndrome

• C syndrome

• C1q nephropathy

• Cabezas syndrome

• CAID syndrome

• Calabro syndrome

• Calcifying Epithelial Odontogenic Tumor

• California encephalitis

• Calvarial hyperostosis

• Camera Marugo Cohen syndrome

• Camptobrachydactyly

• Camptocormism

• Camptodactyly arthropathy coxa vara pericarditis syndrome

• Camptodactyly syndrome Guadalajara type 1

• Camptodactyly syndrome Guadalajara type 2

• Camptodactyly syndrome Guadalajara type 3

• Camptodactyly taurinuria

• Camptodactyly vertebral fusion

• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia

• Camptodactyly, tall stature, and hearing loss syndrome

• Camptodactyly-ichthyosis syndrome

• Camptomelic syndrome long limb type

• Camurati Engelmann disease, type 2

• Camurati-Engelmann disease

• Candida glabrata

• Candidiasis familial chronic mucocutaneous, autosomal dominant

• Candidiasis familial chronic mucocutaneous, autosomal recessive

• CANOMAD syndrome

• Cantalamessa Baldini Ambrosi syndrome

• Cantu Sanchez-Corona Fragoso syndrome

• Cantu Sanchez-Corona Garcia-Cruz syndrome

• Cantu Sanchez-Corona Hernandez syndrome

• Cantu syndrome

• Capillary hemangioblastoma

• Capillary malformation-arteriovenous malformation syndrome

• Carbamoyl phosphate synthetase 1 deficiency

• Carbon baby syndrome

• Carbonic anhydrase VA deficiency

• Carcinoid syndrome

• Carcinoid tumor

• Carcinoid tumor childhood

• Carcinoma of the vocal tract

• Carcinoma of unknown primary site, childhood

• Carcinoma showing thymus-like differentiation

• Cardiac diverticulum

• Cardiac hydatid cysts with intracavitary expansion

• Cardiac rupture

• Cardiac valvular dysplasia, X-linked

• Cardiac-Valvular Ehlers-Danlos syndrome

• Cardioauditory syndrome of Sanchez Cascos

• Cardiocranial syndrome

• Cardioencephalomyopathy

• Cardiofacial syndrome short limbs

• Cardiofaciocutaneous syndrome

• Cardiomelic syndrome Stratton Koehler type

• Cardiomyopathy and deafness due to tRNA lysine gene mutation

• Cardiomyopathy cataract hip spine disease

• Cardiomyopathy diabetes deafness

• Cardiomyopathy dilated with conduction defect type 1

• Cardiomyopathy dilated with conduction defect type 2

• Cardiomyopathy dilated with woolly hair and keratoderma

• Cardiomyopathy due to anthracyclines

• Cardiomyopathy hypogonadism metabolic anomalies

• Cardiomyopathy spherocytosis

• Cardiomyopathy, fatal fetal, due to myocardial calcification

• Cardioskeletal syndrome Kuwaiti type

• Cardiospasm

• Carey-Fineman-Ziter syndrome

• Carnevale Hernandez Castillo syndrome

• Carney complex

• Carney triad

• Carnitine palmitoyl transferase 1 deficiency

• Carnitine palmitoyltransferase 2 deficiency

• Carnitine palmitoyltransferase I deficiency , muscle

• Carnitine-acylcarnitine translocase deficiency

• Carnosinemia

• Caroli disease

• Carotid body tumor

• Carpal deformity micrognathia microstomia

• Carpenter syndrome

• Carpo tarsal osteolysis recessive

• Carpotarsal osteochondromatosis

• Cartilage-hair hypoplasia

• Cartilaginous cancer

• Cartwright Nelson Fryns syndrome

• CASK-Related Disorders

• Cat eye syndrome

• Cat scratch disease

• Catamenial pneumothorax

• Cataract and congenital ichthyosis

• Cataract ataxia deafness

• Cataract congenital autosomal dominant

• Cataract congenital dominant non nuclear

• Cataract congenital Volkmann type

• Cataract Hutterite type

• Cataract microcornea syndrome

• Cataract skeletal anomalies

• Cataract, autosomal recessive congenital 2

• Cataract, congenital, with microcornea or slight microphthalmia

• Cataract, posterior polar, 1

• Cataract, posterior polar, 3

• Cataract, posterior polar, 4

• Cataract, posterior polar, 5

• Cataract, total congenital

• Cataract-glaucoma

• Cataract-microcephaly-failure to thrive-kyphoscoliosis

• Cataracts, ataxia, short stature, and mental retardation

• Catastrophic antiphospholipid syndrome

• Catatrichy

• Catecholaminergic polymorphic ventricular tachycardia

• Catel Manzke syndrome

• Cauda equina syndrome

• Caudal regression syndrome

• Cavernous lymphangioma

• Ccge syndrome

• CDG syndrome type 3

• CDG syndrome type 4

• CDKL5 deficiency disorder

• Celiac artery compression syndrome

• Cennamo Gangemi syndrome

• Central centrifugal cicatricial alopecia

• Central congenital hypothyroidism

• Central core disease

• Central diabetes insipidus

• Central nervous system germinoma

• Central neurocytoma

• Central pain syndrome

• Central serous chorioretinopathy

• Centronuclear myopathy

• Cercarial Dermatitis

• Cerebellar agenesis

• Cerebellar astrocytoma, childhood

• Cerebellar ataxia and hypogonadotropic hypogonadism

• Cerebellar ataxia ectodermal dysplasia

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

• Cerebellar degeneration

• Cerebellar hypoplasia

• Cerebellar hypoplasia tapetoretinal degeneration

• Cerebellar hypoplasia with endosteal sclerosis

• Cerebellar liponeurocytoma

• Cerebello-olivary atrophy

• Cerebelloparenchymal disorder 3

• Cerebellum agenesis hydrocephaly

• Cerebral astrocytoma, childhood

• Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

• Cerebral calcification cerebellar hypoplasia

• Cerebral calcifications opalescent teeth phosphaturia

• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

• Cerebral folate deficiency

• Cerebral gigantism jaw cysts

• Cerebral palsy

• Cerebral palsy ataxic

• Cerebral palsy athetoid

• Cerebral palsy spastic hemiplegic

• Cerebral palsy spastic monoplegic

• Cerebral palsy spastic quadriplegic

• Cerebral sarcoma

• Cerebral sclerosis similar to Pelizaeus-Merzbacher disease

• Cerebral ventricle cancer

• Cerebro facio thoracic dysplasia

• Cerebro-costo-mandibular syndrome

• Cerebro-facio-articular syndrome

• Cerebro-oculo-facio-skeletal syndrome

• Cerebrocostomandibular-like syndrome

• Cerebrooculonasal syndrome

• Cerebrospinal fluid leak

• Cerebrotendinous xanthomatosis

• Ceroid lipofuscinosis neuronal 1

• Ceroid storage disease

• Cerulean cataract

• Cervical dystonia

• Cervical hypertrichosis peripheral neuropathy

• Cervical intraepithelial neoplasia

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

• Chanarin-Dorfman syndrome

• Chancroid

• Chandler's syndrome

• Chaotic atrial tachycardia

• Char syndrome

• Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth disease type 1

• Charcot-Marie-Tooth disease type 1A

• Charcot-Marie-Tooth disease type 1E

• Charcot-Marie-Tooth disease type 2

• Charcot-Marie-Tooth disease type 2A

• Charcot-Marie-Tooth disease type 2B

• Charcot-Marie-Tooth disease type 2F

• Charcot-Marie-Tooth disease type 2P

• Charcot-Marie-Tooth disease type 4

• Charcot-Marie-Tooth disease type 4B2

• CHARGE syndrome

• Charles Bonnet syndrome

• Charlie M syndrome

• Chediak-Higashi syndrome

• Cheilitis glandularis

• Cherubism

• Chester porphyria

• Chiari malformation type 2

• Chiari malformation type 3

• Chiari malformation type 4

• Chiari-Frommel syndrome

• Chilaiditi syndrome

• CHILD syndrome

• Childhood apraxia of speech

• Childhood brain stem glioma

• Childhood disintegrative disorder

• Childhood hepatocellular carcinoma

• Childhood ovarian cancer

• Childhood-onset cerebral X-linked adrenoleukodystrophy

• Childhood-Onset Schizophrenia

• Children's interstitial lung disease

• Chitayat Meunier Hodgkinson syndrome

• Chitty Hall Webb syndrome

• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

• Cholera

• Cholestasis, progressive familial intrahepatic 4

• Cholesterol pneumonia

• Cholesteryl ester storage disease

• Chondroblastoma

• Chondrocalcinosis 1

• Chondrocalcinosis 2

• Chondrocalcinosis due to apatite crystal deposition

• Chondrodysplasia acromesomelic with genital anomalies

• Chondrodysplasia Blomstrand type

• Chondrodysplasia calcificans metaphysealis

• Chondrodysplasia lethal recessive

• Chondrodysplasia punctata 1, X-linked recessive

• Chondrodysplasia punctata 2 X-linked dominant

• Chondrodysplasia punctata Sheffield type

• Chondrodysplasia punctata syndrome

• Chondrodysplasia punctata with steroid sulfatase deficiency

• Chondrodysplasia punctata, humero-metacarpal type

• Chondrodysplasia situs inversus imperforate anus polydactyly

• Chondrodysplasia with joint dislocations, GPAPP type

• Chondrodysplasia, Grebe type

• Chondrodystrophy

• Chondroma

• Chondrosarcoma

• CHOPS syndrome

• Chordoid glioma of the third ventricle

• Chordoma

• Chorea minor

• Chorea, remitting with nystagmus and cataracts

• Chorea-acanthocytosis

• Choreoacanthocytosis amyotrophic

• Choriocarcinoma

• Chorioretinitis

• Chorioretinopathy dominant form microcephaly

• Choroid plexus carcinoma

• Choroid plexus cyst

• Choroid plexus papilloma

• Choroidal dystrophy central areolar

• Choroideremia

• Choroideremia hypopituitarism

• Choroiditis

• Christian Demyer Franken syndrome

• Christian Johnson Angenieta syndrome

• Christianson syndrome

• Chromhidrosis

• Chromoblastomycosis

• Chromophil renal cell carcinoma

• Chromophobe renal cell carcinoma

• Chromosomal triplication

• Chromosome 1, uniparental disomy 1q12 q21

• Chromosome 10, uniparental disomy

• Chromosome 10p deletion

• Chromosome 10p duplication

• Chromosome 10q deletion

• Chromosome 10q duplication

• Chromosome 11p deletion

• Chromosome 11p duplication

• Chromosome 11q deletion

• Chromosome 11q duplication

• Chromosome 12p deletion

• Chromosome 12p duplication

• Chromosome 12q deletion

• Chromosome 12q duplication

• Chromosome 13q deletion

• Chromosome 13q duplication

• Chromosome 14q deletion

• Chromosome 14q duplication

• Chromosome 15, trisomy mosaicism

• Chromosome 15q deletion

• Chromosome 15q duplication

• Chromosome 15q25.2 microdeletion

• Chromosome 16 trisomy

• Chromosome 16, uniparental disomy

• Chromosome 16p deletion

• Chromosome 16p duplication

• Chromosome 16p13.3 deletion syndrome

• Chromosome 16p13.3 duplication

• Chromosome 16q deletion

• Chromosome 16q duplication

• Chromosome 17p deletion

• Chromosome 17p duplication

• Chromosome 17p13.1 deletion syndrome

• Chromosome 17q deletion

• Chromosome 17q duplication

• Chromosome 17q11.2 deletion syndrome

• Chromosome 18p deletion

• Chromosome 18p duplication

• Chromosome 18p tetrasomy

• Chromosome 18q duplication

• Chromosome 19p deletion

• Chromosome 19p duplication

• Chromosome 19q deletion

• Chromosome 19q duplication

• Chromosome 19q13.11 deletion syndrome

• Chromosome 1p deletion

• Chromosome 1p duplication

• Chromosome 1p36 deletion syndrome

• Chromosome 1q deletion

• Chromosome 1q21.1 duplication syndrome

• Chromosome 1q41-q42 deletion syndrome

• Chromosome 20 trisomy

• Chromosome 20p deletion

• Chromosome 20p duplication

• Chromosome 20q deletion

• Chromosome 20q duplication

• Chromosome 21, uniparental disomy

• Chromosome 21q deletion

• Chromosome 21q duplication

• Chromosome 22q deletion

• Chromosome 22q duplication

• Chromosome 2p deletion

• Chromosome 2p duplication

• Chromosome 2q deletion

• Chromosome 2q duplication

• Chromosome 2q24 microdeletion syndrome

• Chromosome 3p deletion

• Chromosome 3p duplication

• Chromosome 3p- syndrome

• Chromosome 3q deletion

• Chromosome 3q duplication

• Chromosome 3q29 microduplication syndrome

• Chromosome 4p deletion

• Chromosome 4p duplication

• Chromosome 4q deletion

• Chromosome 4q duplication

• Chromosome 5, uniparental disomy

• Chromosome 5p deletion

• Chromosome 5p duplication

• Chromosome 5q deletion

• Chromosome 5q duplication

• Chromosome 6p deletion

• Chromosome 6p duplication

• Chromosome 6q deletion

• Chromosome 6q duplication

• Chromosome 6q25 microdeletion syndrome

• Chromosome 7p deletion

• Chromosome 7p duplication

• Chromosome 7q deletion

• Chromosome 7q duplication

• Chromosome 8p deletion

• Chromosome 8p duplication

• Chromosome 8p23.1 deletion

• Chromosome 8q deletion

• Chromosome 8q duplication

• Chromosome 8q24.3 deletion syndrome

• Chromosome 9p deletion

• Chromosome 9p duplication

• Chromosome 9q deletion

• Chromosome 9q duplication

• Chromosome Xp deletion

• Chromosome Xq deletion

• Chromosome Xq duplication

• Chromosome Xq28 deletion syndrome

• Chronic active Epstein-Barr virus infection

• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

• Chronic demyelinizing neuropathy with IgM monoclonal

• Chronic eosinophilic pneumonia (CEP)

• Chronic erosive gastritis

• Chronic graft versus host disease

• Chronic granulomatous disease

• Chronic hiccups

• Chronic Infantile Neurological Cutaneous Articular syndrome

• Chronic inflammatory demyelinating polyneuropathy

• Chronic intestinal pseudoobstruction

• Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

• Chronic lymphocytic leukemia

• Chronic myeloid leukemia

• Chronic myelomonocytic leukemia

• Chronic myeloproliferative disorders

• Chronic neutrophilic leukemia

• Chronic polyradiculoneuritis

• Chronic progressive external ophthalmoplegia

• Chronic recurrent multifocal osteomyelitis

• Chronic thromboembolic pulmonary hypertension

• Chudley Rozdilsky syndrome

• Chudley-Mccullough syndrome

• Chylomicron retention disease

• Chylothorax, congenital

• Cicatricial pemphigoid

• Ciguatera fish poisoning

• Ciliary discoordination, due to random ciliary orientation

• Ciliary dyskinesia with excessively long cilia

• Ciliary dyskinesia, due to transposition of ciliary microtubules

• Ciliary dyskinesia-bronchiectasis

• Circumscribed cutaneous aplasia of the vertex

• Circumscribed disseminated keratosis Jadassohn Lew type

• Citrulline transport defect

• Citrullinemia type I

• Clark-Baraitser syndrome

• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

• Classical Ehlers-Danlos syndrome

• Classical-like Ehlers-Danlos syndrome

• Clear cell renal cell carcinoma

• Cleft lip and palate malrotation cardiopathy

• Cleft lip and/or palate with mucous cysts of lower

• Cleft lip palate dysmorphism Kumar type

• Cleft lip palate oligodontia syndactyly pili torti

• Cleft lip palate pituitary deficiency

• Cleft lip palate-tetraphocomelia

• Cleft lower lip cleft lateral canthi chorioretinal

• Cleft palate cardiac defect ectrodactyly

• Cleft palate colobomata radial synostosis deafness

• Cleft palate heart disease polydactyly absent tibia

• Cleft palate lateral synechia syndrome

• Cleft palate short stature vertebral anomalies

• Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss

• Cleidocranial dysplasia

• Cleidocranial dysplasia recessive form

• Cleidorhizomelic syndrome

• Clostridium perfringens infection

• Clostridium septicum infection

• Clostridium sordellii infection

• Clouston syndrome

• CLOVES syndrome

• Cluttering

• COACH syndrome

• Coal worker's pneumoconiosis

• Coarse face hypotonia constipation

• COASY Protein-Associated Neurodegeneration

• Cobb syndrome

• Cocaine antenatal exposure

• Cochleosaccular degeneration of the inner ear and progressive cataracts

• Cockayne syndrome

• Cockayne syndrome type I

• Cockayne syndrome type II

• Cockayne syndrome type III

• CODAS syndrome

• Coenzyme Q cytochrome c reductase deficiency of

• Coffin syndrome 1

• Coffin-Lowry syndrome

• Coffin-Siris syndrome

• Cogan's syndrome

• Cogan-Reese syndrome

• Cohen Lockood Wyborney syndrome

• Cohen syndrome

• Cold urticaria

• Cole Carpenter syndrome

• Collagen VI related muscular dystrophy

• Collagenous gastritis

• Collecting duct carcinoma

• Collins Pope syndrome

• Collins Sakati syndrome

• Colloid cysts of third ventricle

• Coloboma of alar-nasal cartilages with telecanthus

• Coloboma of iris

• Coloboma of macula with type B brachydactyly

• Coloboma of optic nerve

• Coloboma porencephaly hydronephrosis

• Colobomata unilobar lung heart defect

• Colonic atresia

• Colorectal cancer, childhood

• Colver Steer Godman syndrome

• Combarros Calleja Leno syndrome

• Combined malonic and methylmalonic aciduria

• Combined oxidative phosphorylation deficiency

• Combined oxidative phosphorylation deficiency 16

• Combined pituitary hormone deficiencies, genetic forms

• Common variable immunodeficiency

• Compartment syndrome

• Complement component receptor 1

• Complement receptor deficiency

• Complete androgen insensitivity syndrome

• Complete atrioventricular canal

• Complex regional pain syndrome

• Condrodisplasia punctata rizomélica

• Conductive deafness with malformed external ear

• Cone dystrophy

• Cone dystrophy X-linked with tapetal-like sheen

• Cone-rod dystrophy

• Cone-rod dystrophy 1

• Cone-rod dystrophy 2

• Cone-rod dystrophy 3

• Cone-rod dystrophy 5

• Cone-rod dystrophy 6

• Cone-rod dystrophy amelogenesis imperfecta

• Cone-rod dystrophy X-linked 1

• Cone-rod dystrophy X-linked 2

• Cone-rod dystrophy X-linked 3

• Congenital absence of the sternocleidomastoid muscle

• Congenital adrenal hyperplasia

• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

• Congenital amegakaryocytic thrombocytopenia

• Congenital aneurysms of the great vessels

• Congenital arteriovenous shunt

• Congenital articular rigidity

• Congenital benign spinal muscular atrophy dominant

• Congenital bilateral absence of the vas deferens

• Congenital bronchobiliary fistula

• Congenital cardiovascular shunt

• Congenital central hypoventilation syndrome

• Congenital chloride diarrhea

• Congenital contractural arachnodactyly

• Congenital contractures

• Congenital craniosynostosis maternal hyperthyroiditis

• Congenital cystic eye multiple ocular and intracranial anomalies

• Congenital cytomegalovirus

• Congenital diaphragmatic hernia

• Congenital disorder of glycosylation type I/IIX

• Congenital disorders of glycosylation

• Congenital dyserythropoietic anemia

• Congenital dyserythropoietic anemia type 1

• Congenital dyserythropoietic anemia type 2

• Congenital dyserythropoietic anemia type 3

• Congenital ectodermal dysplasia with hearing loss

• Congenital erythropoietic porphyria

• Congenital extrahepatic portosystemic shunt

• Congenital fiber type disproportion

• Congenital fibrosis of extraocular muscles

• Congenital generalized fibromatosis

• Congenital generalized lipodystrophy type 1

• Congenital generalized lipodystrophy type 2

• Congenital generalized lipodystrophy type 3

• Congenital generalized lipodystrophy type 4

• Congenital giant megaureter

• Congenital heart block

• Congenital heart disease ptosis hypodontia craniostosis

• Congenital heart disease radio ulnar synostosis mental retardation

• Congenital hepatic fibrosis

• Congenital herpes simplex

• Congenital human immunodeficiency virus

• Congenital hyperinsulinism

• Congenital hypomyelination neuropathy

• Congenital hypothyroidism

• Congenital hypotrichosis milia

• Congenital ichthyosis, microcephalus, quadriplegia

• Congenital insensitivity to pain with anhidrosis

• Congenital intrauterine infection-like syndrome

• Congenital laryngeal palsy

• Congenital lipoid adrenal hyperplasia

• Congenital lobar emphysema

• Congenital megalo-ureter

• Congenital mesoblastic nephroma

• Congenital microcoria

• Congenital mirror movement disorder

• Congenital mitral malformation

• Congenital mitral stenosis

• Congenital muscular dystrophy

• Congenital muscular dystrophy type 1A

• Congenital myasthenic syndrome

• Congenital myasthenic syndrome associated with acetylcholine receptor deficiency

• Congenital myasthenic syndrome with episodic apnea

• Congenital myotonic dystrophy

• Congenital myxovirus

• Congenital nephrotic syndrome Finnish type

• Congenital primary aphakia

• Congenital pseudoarthrosis

• Congenital pulmonary alveolar proteinosis

• Congenital pulmonary lymphangiectasia

• Congenital radioulnar synostosis

• Congenital rubella

• Congenital short femur

• Congenital stenosis of cervical medullary canal

• Congenital sucrase-isomaltase deficiency

• Congenital sucrose isomaltose malabsorption

• Congenital torticollis

• Congenital tracheal stenosis

• Congenital tracheomalacia

• Congenital unilateral pulmonary hypoplasia

• Congenital vagal hyperreflexivity

• Congenital varicella syndrome

• Congenital vertical talus

• Congenital Zika syndrome

• Congenitally corrected transposition of the great arteries

• Conjunctivitis with Pseudomembrane

• Conotruncal heart malformations

• Continuous muscle fiber activity hereditary

• Continuous spike-wave during slow sleep syndrome

• Conversion disorder

• Convulsions benign familial neonatal dominant form

• Copper deficiency, familial benign

• CoQ-responsive OXPHOS deficiency

• Cor biloculare

• Cor triatriatum

• Cor triatriatum dexter

• Cor triatriatum sinister

• Cormier Rustin Munnich syndrome

• Cornea guttata with anterior polar cataract

• Corneal crystals myopathy neuropathy

• Corneal dystrophy and perceptive deafness

• Corneal dystrophy Avellino type

• Corneal dystrophy crystalline of Schnyder

• Corneal dystrophy ichthyosis microcephaly mental retardation

• Corneal dystrophy of Bowman layer type 1

• Corneal dystrophy pigmentary anomaly malabsorption

• Corneal dystrophy Thiel Behnke type

• Corneal endothelial dystrophy type 2

• Corneal hypesthesia, familial

• Cornelia de Lange syndrome

• Corneodermatoosseous syndrome

• Coronal synostosis, syndactyly and jejunal atresia

• Coronaro-cardiac fistula

• Coronary arteries congenital malformation

• Coronary artery aneurysm

• Corpus callosum agenesis

• Corpus callosum agenesis double urinary collecting

• Corpus callosum agenesis of blepharophimosis Robin type

• Corpus callosum dysgenesis cleft spasm

• Corpus callosum dysgenesis hypopituitarism

• Corpus callosum dysgenesis X-linked recessive

• Cortada Koussef Matsumoto syndrome

• Cortes Lacassie syndrome

• Cortical blindness-intellectual disability-polydactyly syndrome

• Cortical defects wormian bones and dentinogenesis imperfecta

• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

• Corticobasal degeneration

• Corticosteroid-binding globulin deficiency

• Corticosteroid-sensitive aseptic abscesses

• Cortisone reductase deficiency

• Costello syndrome

• Costocoracoid ligament congenitally short

• Cote Katsantoni syndrome

• Cousin syndrome

• Cowden syndrome

• Coxa vara, congenital

• Coxoauricular syndrome

• Cramp-fasciculation syndrome

• Crandall syndrome

• Crane-Heise syndrome

• Cranio osteoarthropathy

• Craniodiaphyseal dysplasia

• Cranioectodermal dysplasia

• Craniofacial and skeletal defects

• Craniofacial deafness hand syndrome

• Craniofacial dysostosis arthrogryposis progeroid appearence

• Craniofacial dysostosis with diaphyseal hyperplasia

• Craniofacial dyssynostosis

• Craniofacial dystonia

• Craniofacial microsomia

• Craniofrontonasal dysplasia

• Craniofrontonasal syndrome Teebi type

• Craniometaphyseal dysplasia, autosomal dominant

• Craniometaphyseal dysplasia, autosomal recessive type

• Craniomicromelic syndrome

• Craniopharyngioma

• Craniorachischisis

• Craniostenosis cataract

• Craniosynostosis

• Craniosynostosis alopecia brain defect

• Craniosynostosis arthrogryposis cleft palate

• Craniosynostosis autosomal dominant

• Craniosynostosis cleft lip palate arthrogryposis

• Craniosynostosis contractures cleft

• Craniosynostosis exostoses nevus epibulbar dermoid

• Craniosynostosis Fontaine type

• Craniosynostosis Maroteaux Fonfria type

• Craniosynostosis mental retardation clefting syndrome

• Craniosynostosis mental retardation heart defects

• Craniosynostosis Philadelphia type

• Craniosynostosis, anal anomalies, and porokeratosis

• Craniotelencephalic dysplasia

• Crawfurd syndrome

• Creeping myiasis

• CREST syndrome

• Cretinism athyreotic

• Creutzfeldt-Jakob disease

• Cri du chat syndrome

• Crigler Najjar syndrome, type 1

• Crigler Najjar syndrome, type 2

• Crisponi syndrome

• Crohn's disease of the esophagus

• Crome syndrome

• Cronkhite-Canada disease

• Crossed polydactyly type 1

• Crossed polysyndactyly

• Crouzon syndrome

• Crumpled helices and small mouth

• Crusted scabies

• Cryofibrinogenemia

• Cryoglobulinemia

• Cryopyrin-associated periodic syndrome

• Cryptococcosis

• Cryptogenic organizing pneumonia

• Cryptomicrotia brachydactyly syndrome

• Cryptophthalmos

• Cryptosporidiosis

• Culler-Jones syndrome

• Curly hair-acral keratoderma-caries syndrome

• Currarino triad

• Curry Jones syndrome

• Cushing syndrome, familial

• Cushing's syndrome

• Cutaneous anthrax

• Cutaneous larva migrans

• Cutaneous lupus erythematosus

• Cutaneous polyarteritis nodosa

• Cutaneous sclerosis

• Cutaneous-skeletal hypophosphatemia syndrome

• Cutis gyratum acanthosis nigricans craniosynostosis

• Cutis laxa osteoporosis

• Cutis laxa, autosomal recessive type 1

• Cutis laxa, autosomal recessive type 2A

• Cutis laxa, autosomal recessive type 2B

• Cutis marmorata telangiectatica congenita

• Cutis verticis gyrata

• Cutis verticis gyrata mental deficiency

• Cutler Bass Romshe syndrome

• Cyclic neutropenia

• Cyclic thrombocytopenia

• Cyclosporiasis

• Cylindrical spirals myopathy

• Cylindroma

• Cyprus facial neuromusculoskeletal syndrome

• Cystic adenomatoid malformation of lung

• Cystic fibrosis

• Cystic hygroma

• Cystic hygroma lethal cleft palate

• Cystic medial necrosis of aorta

• Cysticercosis

• Cystinosis, ocular nonnephropathic

• Cystinuria

• Cytochrome c oxidase deficiency

• Cytokine receptor deficiency

• Cytomegalovirus retinitis

• Czech dysplasia metatarsal type

• D ercole syndrome

• D-2-hydroxyglutaric aciduria

• D-bifunctional protein deficiency

• D-glycericacidemia

• D-minus hemolytic uremic syndrome (D-HUS)

• D-plus hemolytic uremic syndrome (D+HUS)

• Daentl Towsend Siegel syndrome

• Dahlberg Borer Newcomer syndrome

• Daish Hardman Lamont syndrome

• Dandy-Walker complex

• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

• Dandy-Walker like malformation with atrioventricular septal defect

• Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

• Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia

• Dandy-Walker malformation with postaxial polydactyly

• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus

• Daneman Davy Mancer syndrome

• Darier disease

• Dauwerse-Peters syndrome

• Davenport Donlan syndrome

• Davis Lafer syndrome

• DCMA syndrome

• DDOST-CDG (CDG-Ir)

• DDX3X-related intellectual disability

• De Barsy syndrome

• De Sanctis-Cacchione syndrome

• DEAF1-associated disorders

• Deafness and myopia syndrome

• Deafness conductive stapedial ear malformation facial palsy

• Deafness craniofacial syndrome

• Deafness goiter stippled epiphyses

• Deafness hyperuricemia neurologic ataxia

• Deafness hypogonadism syndrome

• Deafness hypospadias metacarpal and metatarsal syndrome

• Deafness mesenteric diverticula of small bowel neuropathy

• Deafness mixed with perilymphatic Gusher, X-linked

• Deafness nephritis anorectal malformation

• Deafness oligodontia syndrome

• Deafness peripheral neuropathy arterial disease

• Deafness progressive cataract autosomal dominant

• Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

• Deafness, autosomal dominant nonsyndromic sensorineural 17

• Deafness, autosomal dominant nonsyndromic sensorineural 22

• Deafness, autosomal dominant nonsyndromic sensorineural 23

• Deafness, autosomal dominant nonsyndromic sensorineural 24

• Deafness, autosomal dominant nonsyndromic sensorineural 3

• Deafness, autosomal dominant nonsyndromic sensorineural 53

• Deafness, autosomal recessive 51

• Deafness, autosomal recessive 55

• Deafness, dystonia, and cerebral hypomyelination

• Deafness, epiphyseal dysplasia, short stature

• Deafness, isolated, due to mitochondrial transmission

• Deafness, neurosensory nonsyndromic recessive, DFN

• Deafness, neurosensory, autosomal recessive 47

• Deafness-infertility syndrome

• Deafness-lymphedema-leukemia syndrome

• Defective apolipoprotein B-100

• Deficiency of interleukin-1 receptor antagonist

• Degos 'en cocarde' erythrokeratoderma

• Dehydrated hereditary stomatocytosis

• Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema

• Delayed membranous cranial ossification

• Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

• Delta-sarcoglycanopathy

• Dementia familial British

• Dendritic cell tumor

• Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

• Dengue fever

• Dennis Fairhurst Moore syndrome

• Dentatorubral-pallidoluysian atrophy

• Dentin dysplasia sclerotic bones

• Dentin dysplasia, coronal

• Dentinogenesis imperfecta

• Dentinogenesis imperfecta type 2

• Dentinogenesis imperfecta type 3

• Denys-Drash syndrome

• DEPDC5-Related Epilepsy

• Depersonalization disorder

• Der Kaloustian Mcintosh Silver syndrome

• Dermal eccrine cylindroma

• Dermatitis herpetiformis

• Dermatocardioskeletal syndrome Boronne type

• Dermatofibrosarcoma protuberans

• Dermatoleukodystrophy

• Dermatomyositis

• Dermatoosteolysis Kirghizian type

• Dermatopathia pigmentosa reticularis

• Dermatosparaxis Ehlers-Danlos syndrome

• Dermochondrocorneal dystrophy of François

• Dermoids of cornea

• Dermoodontodysplasia

• Desbuquois syndrome

• Desmoid tumor

• Desmoplastic infantile astrocytoma

• Desmoplastic small round cell tumor

• Desmosterolosis

• Developmental prosopagnosia

• Devriendt syndrome

• Dextrocardia

• Dextrocardia with situs inversus

• Dextrocardia with unusual facies and microphthalmia

• Di Guglielmo's syndrome

• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification

• Diabetes persistent mullerian ducts

• Dianzani autoimmune lymphoproliferative syndrome

• Diaphragmatic agenesis radial aplasia omphalocele

• Diaphragmatic hernia exomphalos corpus callosum agenesis

• Diaphragmatic hernia upper limb defects

• Diaphyseal medullary stenosis with malignant fibrous histiocytoma

• Diastrophic dysplasia

• Dibasic aminoaciduria 1

• Dibasic aminoaciduria 2

• Dicarboxylic aminoaciduria

• DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

• Die Smulders Droog Van Dijk syndrome

• Die Smulders Vles Fryns syndrome

• Diencephalic syndrome

• Dieterich's disease

• Diethylstilbestrol syndrome

• Diffuse astrocytoma

• Diffuse cavernous hemangioma of the rectum

• Diffuse cutaneous systemic sclerosis

• Diffuse dermal angiomatosis

• Diffuse gastric cancer

• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

• Diffuse intrinsic pontine glioma

• Diffuse Large B-Cell Lymphoma

• Diffuse mesangial sclerosis

• Diffuse palmoplantar keratoderma, Bothnian type

• Diffuse panbronchiolitis

• Dihydrolipoamide dehydrogenase deficiency

• Dihydropteridine reductase deficiency

• Dihydropyrimidinase deficiency

• Dihydropyrimidine dehydrogenase deficiency

• Dihydroxyadeninuria

• Dilated cardiomyopathy

• Dilated cardiomyopathy with hypergonadotropic hypogonadism

• Diomedi Bernardi Placidi syndrome

• Diphallus rachischisis imperforate anus

• Diphosphoglycerate mutase deficiency of erythrocyte

• Diphtheria

• Diploid-triploid mosaicism

• Diprosopia

• Dirofilariasis

• Disorder of peroxisomal alpha-, beta- and omega-oxidation

• Disorders of Intracellular Cobalamin Metabolism

• Disorders with deficiency of a single peroxisomal enzyme

• Disseminated infection with mycobacterium avium complex

• Disseminated peritoneal leiomyomatosis

• Disseminated superficial actinic porokeratosis

• Dissociative seizures

• Distal arthrogryposis

• Distal arthrogryposis type 1

• Distal arthrogryposis type 5

• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies

• Distal chromosome 18q deletion syndrome

• Distal myopathy with vocal cord weakness

• Distal primary acidosis, familial

• Distal renal tubular acidosis with hemolytic anemia

• Distichiasis heart congenital anomalies

• DK phocomelia syndrome

• Dobrow syndrome

• Dominant dystrophic epidermolysis bullosa

• Dominant ichthyosis vulgaris

• Dominant optic atrophy

• Donnai-Barrow syndrome

• DOOR syndrome

• Dopa-responsive dystonia

• Dopa-responsive dystonia; Segawa syndrome AD

• Dopamine beta hydroxylase deficiency

• Dosage-sensitive sex reversal

• Double discordia

• Double fingernail of fifth finger

• Double outlet left ventricle

• Double outlet right atrium

• Double outlet right ventricle

• Double uterus-hemivagina-renal agenesis

• Doxorubicin induced cardiomyopathy

• Doyne honeycomb retinal dystrophy

• Drachtman Weinblatt Sitarz syndrome

• Dracunculiasis

• Dravet syndrome

• Duane syndrome

• Duane syndrome type 1

• Duane syndrome type 2

• Duane syndrome type 3

• Duane-radial ray syndrome

• Duarte Galactosemia

• Dubin-Johnson syndrome

• Dubowitz syndrome

• Duchenne muscular dystrophy

• Duker Weiss Siber syndrome

• Duodenal atresia

• Duodenal atresia tetralogy of Fallot

• Duodenal carcinoid syndrome

• Duodenal ulcer due to antral G-cell hyperfunction

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

• Duplication of leg mirror foot

• Duplication of the thumb unilateral biphalangeal

• Duplication of urethra

• Dupont Sellier Chochillon syndrome

• Dupuytren subungual exostosis

• Dwarfism bluish sclerae

• Dwarfism deafness retinitis pigmentosa

• Dwarfism familial with muscle spasms

• Dwarfism lethal type advanced bone age

• Dwarfism Levi type

• Dwarfism thin bones multiple fractures

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

• Dwarfism, proportionate with hip dislocation

• Dyggve-Melchior-Clausen syndrome

• Dykes Markes Harper syndrome

• Dysautonomia like disorder

• Dyschondrosteosis nephritis

• Dyschromatosis symmetrica hereditaria 1

• Dyschromatosis universalis hereditaria

• Dysembryoplastic neuroepithelial tumor

• Dysequilibrium syndrome

• Dysferlinopathy

• Dysfibrinogenemia

• Dyskeratosis congenita

• Dyskeratosis congenita autosomal dominant

• Dyskeratosis congenita autosomal recessive

• Dyskeratosis congenita X-linked

• Dysmorphism cleft palate loose skin

• Dysosteosclerosis

• Dysostosis acral with facial and genital abnormalities

• Dysostosis peripheral

• Dysplastic cortical hyperostosis

• Dyssegmental dysplasia Rolland-Desbuquois type

• Dyssegmental dysplasia Silverman-Handmaker type

• Dyssynergia cerebellaris myoclonica

• Dystonia 2, torsion, autosomal recessive

• Dystrophic epidermolysis bullosa

• Dystrophinopathy

• Eagle syndrome

• Early Infantile Epileptic Encephalopathy

• Early Infantile Epileptic Encephalopathy 12

• Early infantile epileptic encephalopathy 25

• Early infantile epileptic encephalopathy 26

• Early infantile epileptic encephalopathy 4

• Early-onset anterior polar cataract

• Early-onset generalized dystonia

• Early-onset myopathy, areflexia, respiratory distress and dysphagia

• Early-onset parkinsonism-intellectual disability syndrome

• Early-onset zonular cataract

• Early-onset, autosomal dominant Alzheimer disease

• Eastern equine encephalitis

• Ebola virus disease

• Eccentrochondrodysplasia

• Eccrine mucinous carcinoma

• Eccrine porocarcinoma

• Ectodermal dysplasia

• Ectodermal dysplasia alopecia preaxial polydactyly

• Ectodermal dysplasia arthrogryposis diabetes mellitus

• Ectodermal dysplasia Bartalos type

• Ectodermal dysplasia Berlin type

• Ectodermal dysplasia blindness

• Ectodermal dysplasia intellectual disability CNS malformation

• Ectodermal dysplasia Margarita type

• Ectodermal dysplasia neurosensory deafness

• Ectodermal dysplasia skin fragility syndrome

• Ectodermal dysplasia trichoodontoonychial type

• Ectodermal dysplasia with natal teeth Turnpenny type

• Ectodermal dysplasia, hidrotic, Christianson-Fourie type

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

• Ectopia lentis, isolated autosomal recessive

• Ectopic pregnancy

• Ectrodactyly cardiopathy dysmorphism

• Ectrodactyly polydactyly

• Ectropion inferior cleft lip and or palate

• Edinburgh malformation syndrome

• EEC syndrome

• EEM syndrome

• Ehlers-Danlos syndrome, dysfibronectinemic type

• Ehlers-Danlos syndromes

• Ehrlichiosis

• Eisenmenger syndrome

• Elastoderma

• Elastosis perforans serpiginosa

• Elliott Ludman Teebi syndrome

• Ellis Yale Winter syndrome

• Ellis-Van Creveld syndrome

• Emanuel syndrome

• Embryonal carcinoma

• Embryonal sarcoma

• Embryonal tumor with multilayered rosettes

• Emerinopathy

• Emery-Dreifuss muscular dystrophy

• Emery-Dreifuss muscular dystrophy, dominant type

• Emery-Dreifuss muscular dystrophy, X-linked

• Empty sella syndrome

• Enamel hypoplasia cataract hydrocephaly

• Encephalitis lethargica

• Encephalocraniocutaneous lipomatosis

• Encephalopathy recurrent of childhood

• Enchondroma

• Enchondromatosis dwarfism deafness

• Endemic Kaposi sarcoma

• Endocardial fibroelastosis

• Endolymphatic sac tumor

• Endometrial stromal sarcoma

• Endomyocardial fibroelastosis

• Endomyocardial fibrosis

• Engelhard Yatziv syndrome

• Engraftment syndrome

• Enlarged vestibular aqueduct syndrome

• Enteropathica

• Enteropathy-associated T-cell lymphoma

• Enterovesical fistula

• Enterovirus antenatal infection

• Enthesitis-related juvenile idiopathic arthritis

• Envenomization by bothrops lanceolatus

• Eosinophil peroxidase deficiency

• Eosinophilia-myalgia syndrome

• Eosinophilic cryptitis

• Eosinophilic enteropathy

• Eosinophilic granulomatosis with polyangiitis

• Eosinophilic pustular folliculitis

• Epidermal nevus vitamin D resistant rickets

• Epidermodysplasia verruciformis

• Epidermoid brain cyst

• Epidermolysa bullosa simplex with muscular dystrophy

• Epidermolysis bullosa

• Epidermolysis bullosa acquisita

• Epidermolysis bullosa simplex

• Epidermolysis bullosa simplex with mottled pigmentation

• Epidermolysis bullosa simplex, Dowling-Meara type

• Epidermolysis bullosa simplex, generalized

• Epidermolysis bullosa simplex, localized

• Epidermolysis bullosa simplex, Ogna type

• Epidermolysis bullosa, lethal acantholytic

• Epidermolytic ichthyosis

• Epidermolytic palmoplantar keratoderma

• Epilepsy mental deterioration Finnish type

• Epilepsy progressive myoclonic type 3

• Epilepsy, partial, familial

• Epimetaphyseal dysplasia cataract

• Epiphyseal dysplasia dysmorphism camptodactyly

• Epiphyseal dysplasia hearing loss dysmorphism

• Epiphyseal dysplasia multiple with early-onset diabetes mellitus

• Epithelial basement membrane corneal dystrophy

• Epithelial-myoepithelial carcinoma

• Epithelioid sarcoma

• Erdheim-Chester disease

• Ermine phenotype

• Erosive pustular dermatosis of the scalp

• Erysipelas

• Erythema elevatum diutinum

• Erythema multiforme

• Erythema nodosum, idiopathic

• Erythroderma desquamativa of Leiner

• Erythroderma lethal congenital

• Erythrokeratodermia variabilis et progressiva

• Erythromelalgia

• Erythroplakia

• Erythropoietic protoporphyria

• Erythropoietic uroporphyria associated with myeloid malignancy

• Escher Hirt syndrome

• Escobar syndrome, type B

• Esophageal atresia

• Esophageal atresia coloboma talipes

• Esophageal cancer

• Esophageal cancer, childhood

• Esophageal varices

• Esotropia

• Essential thrombocythemia

• Eunuchoidism familial hypogonadotropic

• Evans syndrome

• Ewing sarcoma

• Ewing's family of tumors

• Exercise-induced anaphylaxis

• Exercise-induced hyperinsulinemic hypoglycemia

• Exertional headache

• Exfoliative dermatitis

• Exogenous ochronosis

• Exostoses anetodermia brachydactyly type E

• Exstrophy of the bladder

• Exstrophy-epispadias complex

• Extracardiac Rhabdomyoma

• Extracranial arteriovenous malformation

• Extragonadal germ cell tumor

• Extramammary Paget disease

• Extranodal nasal NK/T cell lymphoma

• Extrasystoles short stature hyperpigmentation microcephaly

• Eyebrows duplication of, with stretchable skin and syndactyly

• Fabry disease

• FACES syndrome

• Facial asymmetry temporal seizures

• Facial clefting corpus callosum agenesis

• Facial ectodermal dysplasia

• Facial onset sensory and motor neuronopathy

• Facio digito genital syndrome recessive form

• Facio skeletal genital syndrome Rippberger type

• Facio thoraco genital syndrome

• Faciocardiomelic dysplasia lethal

• Faciocardiorenal syndrome

• Faciomandibular myoclonus, nocturnal

• Facioscapulohumeral muscular dystrophy

• Factor 2 deficiency

• Factor V deficiency

• Factor VII deficiency

• Factor X deficiency

• Factor XI deficiency

• Factor XII deficiency

• Factor XIII deficiency

• Fallopian tube cancer

• Fallot complex with severe mental and growth retardation

• Familial Alzheimer disease

• Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension

• Familial atrial fibrillation

• Familial avascular necrosis of the femoral head

• Familial band heterotopia

• Familial bilateral striatal necrosis

• Familial capillaro-venous leptomeningeal angiomatosis

• Familial cold autoinflammatory syndrome

• Familial colorectal cancer

• Familial congenital palsy of trochlear nerve

• Familial cylindromatosis

• Familial dermographism

• Familial dilated cardiomyopathy

• Familial encephalopathy with neuroserpin inclusion bodies

• Familial episodic pain syndrome

• Familial erythema nodosum

• Familial exudative vitreoretinopathy

• Familial focal epilepsy with variable foci

• Familial glucocorticoid deficiency

• Familial hemiplegic migraine

• Familial hemiplegic migraine type 1

• Familial hemiplegic migraine type 2

• Familial hemiplegic migraine type 3

• Familial hyperaldosteronism type 2

• Familial hyperaldosteronism type III

• Familial hypersecretion of adrenal androgens

• Familial hyperthyroidism due to mutations in TSH receptor

• Familial hypertrophic cardiomyopathy

• Familial hypobetalipoproteinemia

• Familial hypocalciuric hypercalcemia

• Familial hypocalciuric hypercalcemia type 1

• Familial hypocalciuric hypercalcemia type 2

• Familial hypocalciuric hypercalcemia type 3

• Familial hypopituitarism

• Familial interstitial fibrosis

• Familial isolated hyperparathyroidism

• Familial isolated pituitary adenoma

• Familial joint instability syndrome

• Familial juvenile hyperuricaemic nephropathy

• Familial lipoprotein lipase deficiency

• Familial Mediterranean fever

• Familial mixed cryoglobulinemia

• Familial multiple trichodiscomas

• Familial myelofibrosis

• Familial neurocardiogenic syncope

• Familial osteochondritis dissecans

• Familial pancreatic cancer

• Familial partial lipodystrophy

• Familial partial lipodystrophy associated with PPARG mutations

• Familial partial lipodystrophy type 2

• Familial partial lipodystrophy type Köbberling

• Familial partial paralysis

• Familial pemphigus vulgaris

• Familial periodic paralysis

• Familial platelet disorder with associated myeloid malignancy

• Familial porencephaly

• Familial primary hypomagnesemia

• Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

• Familial progressive cardiac conduction defect

• Familial prostate cancer

• Familial pulmonary arterial hypertension leucopenia and atrial septal defect

• Familial reactive perforating collagenosis

• Familial stomach cancer

• Familial streblodactyly

• Familial thoracic aortic aneurysm and dissection

• Familial thyroglossal duct cyst

• Familial transthyretin amyloidosis

• Familial tumoral calcinosis

• Familial ventricular tachycardia

• Familial visceral myopathy with external ophthalmoplegia

• Familial Wilms tumor 2

• Fanconi Bickel syndrome

• Fanconi syndrome

• Fara Chlupackova syndrome

• Farber's disease

• Farmer's lung

• Fatty acid hydroxylase-associated neurodegeneration

• Faulk Epstein Jones syndrome

• Faye-Petersen-Ward-Carey syndrome

• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

• Febrile infection-related epilepsy syndrome

• Febrile Ulceronecrotic Mucha-Habermann disease

• Feigenbaum Bergeron Richardson syndrome

• Feigenbaum Bergeron syndrome

• Feingold syndrome

• Feingold Trainer syndrome

• Felty's syndrome

• Femoral facial syndrome

• Femur bifid with monodactylous ectrodactyly

• Femur fibula ulna syndrome

• Fenton Wilkinson Toselano syndrome

• Fertile eunuch syndrome

• Fetal akinesia deformation sequence

• Fetal akinesia syndrome X-linked

• Fetal aminopterin syndrome

• Fetal and neonatal alloimmune thrombocytopenia

• Fetal brain disruption sequence

• Fetal cystic hygroma

• Fetal enterovirus syndrome

• Fetal hydantoin syndrome

• Fetal indomethacin syndrome

• Fetal iodine syndrome

• Fetal left ventricular aneurysm

• Fetal macrosomia

• Fetal methylmercury syndrome

• Fetal minoxidil syndrome

• Fetal parainfluenza virus type 3 syndrome

• Fetal parvovirus syndrome

• Fetal phenothiazine syndrome

• Fetal retinoid syndrome

• Fetal thalidomide syndrome

• Fetal valproate syndrome

• FG syndrome

• FG syndrome 2

• FG syndrome 3

• Fibrillary glomerulonephritis

• Fibrinogen deficiency, congenital

• Fibro-adipose vascular anomaly

• Fibrocartilaginous embolism

• Fibrochondrogenesis

• Fibrodysplasia ossificans progressiva

• Fibrolamellar carcinoma

• Fibromatosis multiple non ossifying

• Fibrosarcoma

• Fibrosing mediastinitis

• Fibrous dysplasia

• Fibula aplasia complex brachydactyly

• Fibular aplasia

• Fibular aplasia ectrodactyly

• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

• Fibular hypoplasia and complex brachydactyly

• Fibular hypoplasia scapulo pelvic dysplasia absent

• Filippi syndrome

• Fine-Lubinsky syndrome

• Fingerprint body myopathy

• Fitz-Hugh-Curtis syndrome

• Fitzsimmons syndrome

• Fitzsimmons Walson Mellor syndrome

• Fitzsimmons-Guilbert syndrome

• Flavimonas oryzihabitans infection

• Floating-Harbor syndrome

• Florid cemento-osseous dysplasia

• Florid cystic endosalpingiosis of the uterus

• Florid papillomatosis of the nipple

• FLOTCH syndrome

• Flynn Aird syndrome

• FMR1-related primary ovarian insufficiency

• Focal cortical dysplasia of Taylor

• Focal dermal hypoplasia

• Focal facial dermal dysplasia

• Focal or multifocal malformations in neuronal migration

• Focal palmoplantar and gingival keratoderma

• Focal segmental glomerulosclerosis

• Foix Chavany Marie syndrome

• Follicle-stimulating hormone deficiency, isolated

• Follicular lymphoma

• Follicular lymphoreticuloma

• Fontaine Farriaux Blanckaert syndrome

• Formaldehyde poisoning

• Fountain syndrome

• Fournier gangrene

• Fowler's syndrome

• Fox-Fordyce disease

• FOXG1 syndrome

• Fragile X syndrome

• Fragile X syndrome type 1

• Fragile X syndrome type 2

• Fragile X syndrome type 3

• Fragile XE syndrome

• Franceschini Vardeu Guala syndrome

• Frank Ter Haar syndrome

• Fraser Jequier Chen syndrome

• Fraser syndrome

• Frasier syndrome

• FRAXD

• Free sialic acid storage disease

• Freeman Sheldon syndrome

• Freiberg's disease

• Frenkel Russe syndrome

• Frey's syndrome

• Frias syndrome

• Friedel Heid Grosshans syndrome

• Friedman Goodman syndrome

• Friedreich ataxia

• Frints De Smet Fabry Fryns syndrome

• Froelich syndrome

• Frontal fibrosing alopecia

• Fronto nasal malformation cloacal exstrophy

• Frontofacionasal dysplasia

• Frontometaphyseal dysplasia

• Frontonasal dysplasia

• Frontonasal dysplasia acromelic

• Frontonasal dysplasia Klippel Feil syndrome

• Frontonasal dysplasia phocomelic upper limbs

• Frontotemporal dementia

• Frontotemporal dementia, ubiquitin-positive

• Froster-Huch syndrome

• Fructose-1,6-bisphosphatase deficiency

• Fryns Fabry Remans syndrome

• Fryns Hofkens Fabry syndrome

• Fryns smeets thiry syndrome

• Fryns syndrome

• Fuchs heterochromic iridocyclitis

• Fuhrmann syndrome

• Fukuda Miyanomae Nakata syndrome

• Fukuyama type muscular dystrophy

• Fumarase deficiency

• Functioning pancreatic endocrine tumor

• Fundus dystrophy, pseudoinflammatory, of Sorsby

• Fuqua Berkovitz syndrome

• Furunculous myiasis

• Fused mandibular incisors

• Galactorrhoea-Hyperprolactinaemia

• Galactose epimerase deficiency

• Gallbladder cancer

• Galloway-Mowat syndrome

• Game Friedman Paradice syndrome

• Gamma aminobutyric acid transaminase deficiency

• GAPO syndrome

• Gardner syndrome

• Gardner-Diamond syndrome

• Garret Tripp syndrome

• Gas bloat syndrome

• Gastric duplication cysts

• Gastric lymphoma

• Gastro-enteropancreatic neuroendocrine tumor

• Gastrocutaneous syndrome

• Gastrointestinal Stromal Tumors

• Gastroschisis

• GATAD2B-associated neurodevelopmental disorder

• Gaucher disease

• Gaucher disease perinatal lethal

• Gaucher disease type 1

• Gaucher disease type 2

• Gaucher disease type 3

• Gaucher ichthyosis restrictive dermopathy

• Gaucher-like disease

• Gay Feinmesser Cohen syndrome

• Geleophysic dwarfism

• Gemignani syndrome

• Generalized peeling skin syndrome

• Generalized pustular psoriasis

• Generalized resistance to thyroid hormone

• Genetic reflex epilepsy

• Genital dwarfism

• Genital dwarfism, Turner type

• Genito palato cardiac syndrome

• Genitopatellar syndrome

• Genoa syndrome

• Genochondromatosis

• Geroderma osteodysplastica

• Gershinibaruch Leibo syndrome

• Gershoni-Baruch syndrome

• Gerstmann syndrome

• Gerstmann-Straussler-Scheinker disease

• Gestational trophoblastic tumor

• Ghosal hematodiaphyseal dysplasia syndrome

• Ghose Sachdev Kumar syndrome

• Gianotti Crosti syndrome

• Giant axonal neuropathy

• Giant cell arteritis

• Giant cell myocarditis

• Giant cell tumor of bone

• Giant ganglionic hyperplasia

• Giant mammary hamartoma

• Giant papillary conjunctivitis

• Giant platelet syndrome

• Gigantism advanced bone age hoarse cry

• Gillespie syndrome

• Gingival fibromatosis with distinctive facies

• Gingival fibromatosis with hypertrichosis

• Gingival fibromatosis, 1

• Gingival fibromatosis, 2

• Gingival fibromatosis, 3

• Gingival fibromatosis, 4

• Gitelman syndrome

• Glanders

• Glanzmann thrombasthenia

• Glass-Chapman-Hockley syndrome

• Glassy cell carcinoma of the cervix

• Glaucoma 3 primary infantile B

• Glaucoma iridogoniodysgenesia

• Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome

• Glaucoma, hereditary

• Glaucoma, hereditary adult type 1A

• Glaucoma, hereditary juvenile type 1B

• Glaucoma, primary infantile type 3A

• Gliomatosis cerebri

• Gliomatosis peritonei

• Gliosarcoma

• Global disaccharide intolerance

• Globozoospermia

• Glomerulonephritis

• Glomerulonephritis with sparse hair and telangiectases

• Glomerulopathy with fibronectin deposits 1

• Glomerulopathy with fibronectin deposits 2

• Glomus jugulare tumors

• Glomus tympanicum tumor

• Glomus vagale tumor

• Glossopalatine ankylosis micrognathia ear anomalies

• Glossopharyngeal neuralgia

• Glucagonoma syndrome

• Glucocorticoid resistance

• Glucocorticoid-remediable aldosteronism

• Glucose transporter type 1 deficiency syndrome

• Glucose-6-phosphate dehydrogenase deficiency

• Glucose-6-phosphate translocase deficiency

• Glucose-galactose malabsorption

• Glucosephosphate isomerase deficiency

• Glutamate decarboxylase deficiency

• Glutamate formiminotransferase deficiency

• Glutaric acidemia type I

• Glutaric acidemia type II

• Glutaric acidemia type III

• Glutathionuria

• Glyceraldehyde-3-phosphate dehydrogenase deficiency

• Glycine N-methyltransferase deficiency

• Glycogen storage disease 8

• Glycogen storage disease type 0, liver

• Glycogen storage disease type 0, muscle

• Glycogen storage disease type 12

• Glycogen storage disease type 13

• Glycogen storage disease type 1A

• Glycogen storage disease type 1B

• Glycogen storage disease type 2

• Glycogen storage disease type 3

• Glycogen storage disease type 4

• Glycogen storage disease type 5

• Glycogen storage disease type 6

• Glycogen storage disease type 7

• Glycoprotein VI deficiency

• Glycoproteinosis

• GM2 gangliosidosis, 0 variant

• GM2-gangliosidosis, B, B1, AB variant

• GMS syndrome

• Goblet cell carcinoid

• Goldberg-Shprintzen megacolon syndrome

• Goldenhar disease

• Goldmann-Favre syndrome

• Gollop Coates syndrome

• GOMBO syndrome

• Gomez Lopez Hernandez syndrome

• Gonadal dysgenesis Turner type

• Goodman syndrome

• Goodpasture syndrome

• Gordon syndrome

• Gorham's disease

• Gorlin Bushkell Jensen syndrome

• Gorlin Chaudhry Moss syndrome

• GOSR2-related progressive myoclonus ataxia

• Gouty nephropathy, familial

• Gracile bone dysplasia

• GRACILE syndrome

• Graham Boyle Troxell syndrome

• Graham-Cox syndrome

• Graham-Little-Piccardi-Lassueur syndrome

• Grand Kaine Fulling syndrome

• Grant syndrome

• Granular cell tumor

• Granulocytopenia

• Granuloma annulare

• Granuloma Inguinale

• Granulomas, congenital cerebral

• Granulomatosis with polyangiitis

• Granulomatous Amebic Encephalitis

• Granulomatous hypophysitis

• Granulomatous lobular mastitis

• Granulomatous rosacea

• Granulomatous slack skin disease

• Granulosa cell tumor of the ovary

• Graphite Pneumoconiosis

• Graves' disease

• Gray platelet syndrome

• Gray zone lymphoma

• Green Sandford Davison syndrome

• Greenberg dysplasia

• Greig cephalopolysyndactyly syndrome

• GRIN2B related syndrome

• Griscelli syndrome

• Griscelli syndrome type 1

• Griscelli syndrome type 2

• Griscelli syndrome type 3

• Grix Blankenship Peterson syndrome

• Groenouw type I corneal dystrophy

• Groll Hirschowitz syndrome

• Group B strep disease in newborns

• Growth hormone deficiency

• Growth hormone insensitivity with immunodeficiency

• Growth retardation alopecia pseudoanodontia optic

• Growth retardation hydrocephaly lung hypoplasia

• Grubben de Cock Borghgraef syndrome

• GTP cyclohydrolase I deficiency

• Guanidinoacetate methyltransferase deficiency

• Guillain-Barre syndrome

• Guizar Vasquez Sanchez Manzano syndrome

• Gupta Patton syndrome

• Gurrieri syndrome

• Guttate psoriasis

• Gynandroblastoma

• Gyrate atrophy of choroid and retina

• Haim-Munk syndrome

• Hair defect-photosensitivity-intellectual disability syndrome

• Hairy cell leukemia

• Hairy elbows

• Hairy nose tip

• Hairy palms and soles

• Halal Setton Wang syndrome

• Halal syndrome

• Hall-Riggs syndrome

• Hallermann-Streiff syndrome

• Hamanishi Ueba Tsuji syndrome

• Hand and foot deformity with flat facies

• Hand foot uterus syndrome

• HaNDL syndrome

• Hanhart syndrome

• Hantavirus pulmonary syndrome

• Hard skin syndrome Parana type

• Hardikar syndrome

• Harding ataxia

• Harlequin ichthyosis

• Harlequin syndrome

• Harrod Doman Keele syndrome

• Hartnup disease

• Hashimoto-Pritzker syndrome

• Hawkinsinuria

• Hay-Wells syndrome

• Heart defect, tongue hamartoma and polysyndactyly

• Heart tumor

• Heart-hand syndrome, Slovenian type

• Heart-hand syndrome, Spanish type

• HEC syndrome

• HELLP syndrome

• Hemangioma thrombocytopenia syndrome

• Hemangiomatosis, familial pulmonary capillary

• Hemangiopericytoma

• Hematohidrosis

• Hemeralopia, congenital essential

• Hemeralopia, familial

• Hemi 3 syndrome

• Hemicrania continua

• Hemifacial atrophy agenesis of the caudate nucleus

• Hemifacial hyperplasia strabismus

• Hemifacial microsomia

• Hemifacial myohyperplasia

• Hemihypertrophy

• Hemiplegic migraine

• Hemochromatosis type 2

• Hemochromatosis type 3

• Hemochromatosis type 4

• Hemochromatosis type 5

• Hemoglobin Zurich

• Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities

• Hemolytic uremic syndrome

• Hemolytic uremic syndrome, atypical, childhood

• Hemophagocytic reticulosis

• Hemophilic arthropathy

• Hemorrhagic fever

• Hemorrhagic proctocolitis

• Hemorrhagic shock and encephalopathy syndrome

• Hemosiderosis

• Hennekam syndrome

• Hennekam Van der Horst syndrome

• Henoch-Schonlein purpura

• Hepadnavirus infection

• Heparane sulfamidase deficiency

• Heparin-induced thrombocytopenia

• Hepatic cystic hamartoma

• Hepatoerythropoietic porphyria

• Hepatopulmonary syndrome

• Hepatorenal syndrome

• Hereditary amyloidosis

• Hereditary angioedema

• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

• Hereditary antithrombin deficiency

• Hereditary antithrombin deficiency type 2

• Hereditary antithrombin deficiency type I

• Hereditary ataxia

• Hereditary cerebral hemorrhage with amyloidosis

• Hereditary congenital facial paresis

• Hereditary coproporphyria

• Hereditary diffuse gastric cancer

• Hereditary diffuse leukoencephalopathy with spheroids

• Hereditary elliptocytosis

• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

• Hereditary folate malabsorption

• Hereditary fructose intolerance

• Hereditary geniospasm

• Hereditary hemorrhagic telangiectasia

• Hereditary hemorrhagic telangiectasia type 2

• Hereditary hemorrhagic telangiectasia type 3

• Hereditary hemorrhagic telangiectasia type 4

• Hereditary hyperekplexia

• Hereditary hyperuricemia

• Hereditary koilonychia

• Hereditary leiomyomatosis and renal cell cancer

• Hereditary lymphedema type II

• Hereditary methemoglobinemia

• Hereditary motor and sensory neuropathy type 5

• Hereditary mucoepithelial dysplasia

• Hereditary multiple osteochondromas

• Hereditary myopathy with intranuclear filamentous

• Hereditary neuralgic amyotrophy

• Hereditary neuropathy with liability to pressure palsy

• Hereditary nodular heterotopia

• Hereditary orotic aciduria without megaloblastic anaemia

• Hereditary pancreatitis

• Hereditary paraganglioma-pheochromocytoma

• Hereditary peripheral nervous disorder

• Hereditary renal cell carcinoma

• Hereditary resistance to anti-vitamin K

• Hereditary sensorimotor neuropathy with hyperelastic skin

• Hereditary sensory and autonomic neuropathy

• Hereditary sensory and autonomic neuropathy type 1E

• Hereditary sensory and autonomic neuropathy type 2

• Hereditary sensory and autonomic neuropathy type 7

• Hereditary sensory and autonomic neuropathy type V

• Hereditary sensory neuropathy type 1

• Hereditary spastic paraplegia

• Hereditary spherocytosis

• Hereditary type 1 neuropathy

• Hereditary type 2 neuropathy

• Hereditary vascular retinopathy

• Hermansky Pudlak syndrome 2

• Hermansky-Pudlak syndrome

• Hernández-Aguirre Negrete syndrome

• Herpes simiae (B virus)

• Herpes simplex encephalitis

• Herpes virus antenatal infection

• Herpes zoster ophthalmicus

• Herpes zoster oticus

• Herpesvirus simiae B virus

• Herpetic embryopathy

• Herrmann Opitz arthrogryposis syndrome

• Herrmann Opitz craniosynostosis

• Herrmann syndrome

• Hersh Podruch Weisskopk syndrome

• Heterotaxy

• Hidradenocarcinoma

• High molecular weight kininogen deficiency

• Hillig syndrome

• Hing Torack Dowston syndrome

• Hirschsprung disease ganglioneuroblastoma

• Hirschsprung disease polydactyly heart disease

• Hirschsprung disease type 2

• Hirschsprung disease type 3

• Hirschsprung disease type d brachydactyly

• Hirschsprung microcephaly cleft palate

• Hirschsprung nail hypoplasia dysmorphism

• Hirschsprung's disease

• His bundle tachycardia

• Histidinuria renal tubular defect

• Histiocytosis-lymphadenopathy plus syndrome

• HIVEP2-related intellectual disability

• Hm syndrome

• Ho Kaufman Mcalister syndrome

• Hodgkin lymphoma, during pregnancy

• Holmes Borden syndrome

• Holoacardius amorphus

• Holocarboxylase synthetase deficiency

• Holoprosencephaly

• Holoprosencephaly caudal dysgenesis

• Holoprosencephaly ectrodactyly cleft lip palate

• Holoprosencephaly, recurrent infections, and monocytosis

• Holt-Oram syndrome

• Holzgreve syndrome

• Homocarnosinosis

• Homocystinuria

• Homocystinuria due to CBS deficiency

• Homocystinuria due to defect in methylation cbl e

• Homocystinuria due to defect in methylation cbl g

• Homocystinuria due to MTHFR deficiency

• Hoon Hall syndrome

• Hordnes Engebretsen Knudtson syndrome

• Horizontal gaze palsy with progressive scoliosis

• Horn Kolb syndrome

• Horner's syndrome

• Houlston Ironton Temple syndrome

• Hoyeraal Hreidarsson syndrome

• HTLV-1 associated myelopathy/tropical spastic paraparesis

• Human granulocytic ehrlichiosis

• Human monocytic ehrlichiosis

• Human spumaretrovirus infection

• Human T-cell leukemia virus type 1

• Human T-cell leukemia virus type 2

• Human T-cell leukemia virus type 3

• Humeroradial synostosis

• Humeroradioulnar synostosis

• Hunter Carpenter Macdonald syndrome

• Hunter Macpherson syndrome

• Hunter Mcdonald syndrome

• Hunter Rudd Hoffmann syndrome

• Hunter-McAlpine syndrome

• Hurler syndrome

• Hurler–Scheie syndrome

• Hurst Hallam Hockey syndrome

• Hurthle cell thyroid cancer

• Hutchinson incisors

• Hutterite cerebroosteonephrodysplasia syndrome

• Hyaline fibromatosis syndrome

• Hyalinosis systemic short stature

• Hydatidiform mole

• Hydranencephaly

• Hydroa vacciniforme

• Hydroa vacciniforme, familial

• Hydrocephalus

• Hydrocephalus autosomal recessive

• Hydrocephalus craniosynostosis bifid nose

• Hydrocephalus due to congenital stenosis of aqueduct of sylvius

• Hydrocephalus growth retardation skeletal anomalies

• Hydrocephalus obesity hypogonadism

• Hydrocephalus skeletal anomalies

• Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly

• Hydrocephalus-cleft palate-joint contractures syndrome

• Hydrocephaly corpus callosum agenesis diaphragmatic hernia

• Hydrolethalus syndrome

• Hydronephrosis peculiar facial expression

• Hydrops ectrodactyly syndactyly

• Hydrops fetalis

• Hydrops fetalis anemia immune disorder absent thumb

• Hydroxycarboxylic aciduria

• Hydroxykynureninuria

• Hydroxyprolinemia

• Hygroma cervical

• Hyper IgE syndrome

• Hyper-IgD syndrome

• Hyper-reninism

• Hyperacusis

• Hyperadrenalism

• Hyperbetaalaninemia

• Hyperbilirubinemia transient familial neonatal

• Hyperbilirubinemia type 2

• Hypercalcinuria macular coloboma

• Hypercementosis

• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

• Hypereosinophilic syndrome

• Hyperferritinemia cataract syndrome

• Hyperglycerolemia

• Hypergonadotropic ovarian failure

• Hyperinsulinemic hypoglycemia familial 2

• Hyperinsulinemic hypoglycemia familial 3

• Hyperinsulinism due to glucokinase deficiency

• Hyperinsulinism due to glutamodehydrogenase deficiency

• Hyperinsulinism, diffuse

• Hyperinsulinism, focal

• Hyperinsulinism-hyperammonemia syndrome

• Hyperkalemic periodic paralysis

• Hyperkeratosis lenticularis perstans

• Hyperlipidemia type 3

• Hyperlipoproteinemia type 4

• Hyperlipoproteinemia type 5

• Hyperlysinemia

• Hypermanganesemia with dystonia polycythemia and cirrhosis

• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

• Hypermobile Ehlers-Danlos syndrome

• Hyperostosis cortical infantile

• Hyperostosis corticalis generalisata

• Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus

• Hyperostosis-hyperphosphatemia syndrome

• Hyperparathyroidism-jaw tumor syndrome

• Hyperphenylalaninemia due to dehydratase deficiency

• Hyperphosphatemic familial tumoral calcinosis

• Hyperprolinemia

• Hyperprolinemia type 2

• Hypersensitivity pneumonitis

• Hypersensitivity vasculitis

• Hypertelorism and tetralogy of Fallot

• Hypertensive hypokalemia familial

• Hyperthermia induced defects

• Hypertrichosis lanuginosa congenita

• Hypertrichosis lanuginosa, acquired

• Hypertrichosis universalis

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

• Hypertrophic branchial myopathy

• Hypertrophic hemangiectasia

• Hypertrophic neuropathy of Dejerine-Sottas

• Hypertrophic olivary degeneration

• Hypertryptophanemia

• Hypoadrenalism

• Hypoaldosteronism

• Hypochondroplasia

• Hypochromic microcytic anemia with iron overload

• Hypocomplementemic urticarial vasculitis

• Hypodermyasis

• Hypodontia of incisors and premolars

• Hypofibrinogenemia, familial

• Hypoglycemia with deficiency of glycogen synthetase in the liver

• Hypogonadism cardiomyopathy

• Hypogonadism primary partial alopecia

• Hypogonadism, isolated, hypogonadotropic

• Hypogonadotropic hypogonadism without anosmia, X-linked

• Hypohidrotic ectodermal dysplasia

• Hypohidrotic ectodermal dysplasia autosomal dominant

• Hypohidrotic ectodermal dysplasia autosomal recessive

• Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

• Hypohidrotic ectodermal dysplasia with immune deficiency

• Hypokalemic periodic paralysis

• Hypolipoproteinemia

• Hypomandibular faciocranial dysostosis

• Hypomelanotic disorder

• Hypomelia mullerian duct anomalies

• Hypomyelination and congenital cataract

• Hypomyelination with atrophy of basal ganglia and cerebellum

• Hypoparathyroidism

• Hypoparathyroidism familial isolated

• Hypoparathyroidism X-linked

• Hypoparathyroidism-intellectual disability-dysmorphism syndrome

• Hypopharyngeal cancer

• Hypophosphatemic rickets

• Hypopituitarism

• Hypoplasia hepatic ductular

• Hypoplastic left heart syndrome

• Hypoplastic right heart syndrome

• Hypoplastic thumb mullerian aplasia

• Hypoplastic thumbs hydranencephaly

• Hyporeninemic hypoaldosteronism

• Hypospadias-intellectual disability, Goldblatt type syndrome

• Hypotelorism cleft palate hypospadias

• Hypothalamic hamartomas

• Hypothyroidism due to iodide transport defect

• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response

• Hypotonic sclerotic muscular dystrophy

• Hypotrichosis simplex

• Hypotrichosis-lymphedema-telangiectasia syndrome

• Hypoxanthine guanine phosphoribosyltransferase deficiency

• ICF syndrome

• Ichthyosiform erythroderma, corneal involvement, deafness

• Ichthyosis alopecia eclabion ectropion mental retardation

• Ichthyosis cheek eyebrow syndrome

• Ichthyosis congenita biliary atresia

• Ichthyosis follicularis atrichia photophobia syndrome

• Ichthyosis hystrix gravior

• Ichthyosis hystrix, Curth Macklin type

• Ichthyosis lamellar 1

• Ichthyosis lamellar 2

• Ichthyosis lamellar 3

• Ichthyosis lamellar, autosomal dominant

• Ichthyosis linearis circumflexa

• Ichthyosis prematurity syndrome

• Ichthyosis tapered fingers midline groove up

• Ichthyosis vulgaris

• Ichthyosis with hypotrichosis, autosomal recessive

• Ichthyosis, acquired

• Ichthyosis, erythrokeratolysis hemalis

• Ichthyosis, follicular

• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

• Ichthyosis, mental retardation, dwarfism and renal impairment

• Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin

• Idiopathic alveolar hypoventilation syndrome

• Idiopathic dilatation of the pulmonary artery

• Idiopathic eosinophilic chronic pneumopathy

• Idiopathic hypersomnia

• Idiopathic hypertrophic pachymeningitis

• Idiopathic inflammatory myopathy

• Idiopathic juxtafoveal retinal telangiectasia

• Idiopathic pulmonary fibrosis

• Idiopathic pulmonary hemosiderosis

• Idiopathic spinal cord herniation

• Idiopathic subglottic tracheal stenosis

• Idiopathic thrombocytopenic purpura

• IgA nephropathy

• IgG4-related dacryoadenitis and sialadenitis

• IgG4-related disease

• Iida Kannari syndrome

• IL12RB1 deficiency

• IMAGe syndrome

• Imaizumi Kuroki syndrome

• Imerslund-Grasbeck syndrome

• Iminoglycinuria

• 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

• Immune thrombocytopenia

• Immunodeficiency with hyper IgM type 1

• Immunodeficiency with hyper IgM type 2

• Immunodeficiency with hyper IgM type 3

• Immunodeficiency with hyper IgM type 4

• Immunodeficiency with hyper IgM type 5

• Immunodeficiency without anhidrotic ectodermal dysplasia

• Immunodeficiency, microcephaly with normal intelligence

• Immunodysregulation, polyendocrinopathy and enteropathy X-linked

• Immunotactoid glomerulopathy

• Immunotactoid or fibrillary glomerulopathy

• Impairment of oral perception

• Imperforate anus

• Imperforate oropharynx-costo vetebral anomalies

• Inborn amino acid metabolism disorder

• Inborn renal aminoaciduria

• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

• Infant epilepsy with migrant focal crisis

• Infantile axonal neuropathy

• Infantile cerebellar retinal degeneration

• Infantile choroidocerebral calcification syndrome

• Infantile convulsions and paroxysmal choreoathetosis, familial

• Infantile digital fibromatosis

• Infantile free sialic acid storage disease

• Infantile histiocytoid cardiomyopathy

• Infantile liver failure syndrome 1

• Infantile liver failure syndrome 2

• Infantile myofibromatosis

• Infantile neuroaxonal dystrophy

• Infantile onset spinocerebellar ataxia

• Infantile Parkinsonism-dystonia

• Infantile recurrent chronic multifocal osteomyolitis

• Infantile spasms broad thumbs

• Infantile striato thalamic degeneration

• Infantile-onset ascending hereditary spastic paralysis

• Infectious arthritis

• Infectious myocarditis

• Infective endocarditis

• Inflammatory breast cancer

• Inflammatory linear verrucous epidermal nevus

• Inflammatory myofibroblastic tumor

• Inherited hypoprothrombinemia

• Insulin autoimmune syndrome

• Insulin-like growth factor 1 resistance to

• Insulin-like growth factor I deficiency

• Insulin-resistance type B

• Insulin-resistant acanthosis nigricans, type A

• Intellectual deficit - short stature - hypertelorism

• Intellectual deficit Buenos-Aires type

• Intellectual disability - athetosis - microphthalmia

• Intellectual disability - hypoplastic corpus callosum - preauricular tag

• Intellectual disability-developmental delay-contractures syndrome

• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

• Intellectual disability-severe speech delay-mild dysmorphism syndrome

• Intellectual disability-spasticity-ectrodactyly syndrome

• Intercellular cholesterol esterification disease

• Interferon gamma, receptor 1, deficiency

• Intermediate congenital nemaline myopathy

• Intermediate severe Salla disease

• Internal carotid agenesis

• Intestinal atresia multiple

• Intestinal pseudo-obstruction

• Intestinal pseudoobstruction neuronal chronic idiopathic X-linked

• Intracranial aneurysms multiple congenital anomaly

• Intracranial arteriovenous malformation

• Intrahepatic cholangiocarcinoma

• Intrahepatic cholestasis of pregnancy

• Intraneural perineurioma

• Intraocular melanoma

• Intrathoracic kidney vertebral fusion

• Intrauterine growth retardation - mandibular malar hypoplasia

• Intrauterine growth retardation with increased mitomycin C sensitivity

• Intrauterine infections

• Intravascular papillary endothelial hyperplasia

• Intravenous leiomyomatosis

• Intrinsic factor deficiency

• Iodine antenatal exposure

• IRAK-4 deficiency

• IRF6-Related disorders

• Iridocorneal endothelial syndrome

• Iridogoniodysgenesis and skeletal anomalies

• Iridogoniodysgenesis type 1

• Iridogoniodysgenesis type 2

• Iris hypoplasia and glaucoma

• Iron-refractory iron deficiency anemia

• Irons Bhan syndrome

• IRVAN syndrome

• Isaacs' syndrome

• Ischiadic hypoplasia renal dysfunction immunodeficiency

• Isobutyryl-CoA dehydrogenase deficiency

• Isochromosome Yp

• Isodicentric chromosome 15 syndrome

• Isolated anterior cervical hypertrichosis

• Isolated congenital megalocornea

• Isolated growth hormone deficiency

• Isolated growth hormone deficiency type 1A

• Isolated growth hormone deficiency type 1B

• Isolated growth hormone deficiency type 2

• Isolated growth hormone deficiency type 3

• Isolated levocardia

• Isosporiasis

• Isotretinoin embryopathy like syndrome

• Isovaleric acidemia

• Isthmian coarctation

• Ivemark syndrome

• IVIC syndrome

• Jackhammer esophagus

• Jackson-Weiss syndrome

• Jacobsen syndrome

• Jaffer Beighton syndrome

• Jankovic Rivera syndrome

• Jansen type metaphyseal chondrodysplasia

• Jejunal atresia

• Jejunal atresia with renal adysplasia

• Jensen syndrome

• Jervell and Lange-Nielsen syndrome 2

• Jervell Lange-Nielsen syndrome

• Jeune syndrome

• Jeune syndrome situs inversus

• JMP syndrome

• Johanson-Blizzard syndrome

• Johnson Hall Krous syndrome

• Johnson Munson syndrome

• Johnson neuroectodermal syndrome

• Johnston Aarons Schelley syndrome

• Jones Hersh Yusk syndrome

• Jones syndrome

• Jorgenson Lenz syndrome

• Joubert syndrome

• Joubert syndrome 2

• Joubert syndrome with ocular anomalies

• Joubert syndrome with oculorenal anomalies

• Joubert syndrome with renal anomalies

• Juberg Marsidi syndrome

• Juberg-Hayward syndrome

• Judge Misch Wright syndrome

• Jumping Frenchmen of Maine

• Junctional epidermolysis bullosa

• Jung Wolff Back Stahl syndrome

• Juvenile amyotrophic lateral sclerosis

• Juvenile dermatomyositis

• Juvenile macular degeneration and hypotrichosis

• Juvenile ossifying fibroma

• Juvenile osteoporosis

• Juvenile polyposis syndrome

• Juvenile primary lateral sclerosis

• Juvenile retinoschisis

• Juvenile spondyloarthropathy

• Juvenile temporal arteritis

• Juvenile-onset small-fiber polyneuropathy

• Kabuki syndrome

• Kallikrein hypertension

• Kallmann syndrome

• Kallmann syndrome 1

• Kallmann syndrome 2

• Kallmann syndrome 3

• Kallmann syndrome 4

• Kallmann syndrome 5

• Kallmann syndrome 6

• Kaplan Plauchu Fitch syndrome

• Kaposi sarcoma

• Kaposiform Hemangioendothelioma

• Kapur Toriello syndrome

• Karak syndrome

• Karandikar Maria Kamble syndrome

• Kartagener syndrome

• Karyomegalic interstitial nephritis

• Kashani Strom Utley syndrome

• Kasznica Carlson Coppedge syndrome

• Katsantoni Papadakou Lagoyanni syndrome

• Kaufman oculocerebrofacial syndrome

• KBG syndrome

• KCNQ2-Related Disorders

• Kearns-Sayre syndrome

• Kenny-Caffey syndrome type 1

• Kenny-Caffey syndrome type 2

• Keratitis, hereditary

• Keratoconus

• Keratoconus posticus circumscriptus

• Keratoderma palmoplantar deafness

• Keratoderma palmoplantar spastic paralysis

• Keratoderma palmoplantaris transgrediens

• Keratolytic winter erythema

• Keratomalacia

• Keratosis follicularis dwarfism and cerebral atrophy

• Keratosis follicularis spinulosa decalvans

• Keratosis palmoplantaris adenocarcinoma of the colon

• Keratosis palmoplantaris striata 1

• Keratosis palmoplantaris striata 3

• Kerion celsi

• Kernicterus

• Keutel syndrome

• KID syndrome

• Kidney cancer, childhood

• Kifafa seizure disorder

• Kimura disease

• Kindler syndrome

• King Denborough syndrome

• Klatskin tumor

• Kleeblattschaedel syndrome

• Kleefstra syndrome

• Kleine Levin syndrome

• Kleiner Holmes syndrome

• Klippel Feil syndrome

• Klippel-Trenaunay syndrome

• Klumpke paralysis

• Kluver Bucy syndrome

• Kniest-like dysplasia with pursed lips and ectopia lentis

• Knobloch syndrome

• Knuckle pads, leuconychia and sensorineural deafness

• Kocher-Debre-Semelaigne syndrome

• Kohler disease

• Kohlschutter Tonz syndrome

• Koolen de Vries syndrome

• Koone Rizzo Elias syndrome

• Koro

• Kosztolanyi syndrome

• Kotzot-Richter syndrome

• Kousseff Nichols syndrome

• Kowarski syndrome

• Kozlowski Brown Hardwick syndrome

• Kozlowski Ouvrier syndrome

• Kozlowski Rafinski Klicharska syndrome

• Kozlowski Warren Fisher syndrome

• Kozlowski-Krajewska syndrome

• Krabbe disease

• Krabbe disease atypical due to Saposin A deficiency

• Krauss Herman Holmes syndrome

• Krieble Bixler syndrome

• Krukenberg carcinoma

• KSHV inflammatory cytokine syndrome

• Kuru

• Kuster Majewski Hammerstein syndrome

• Kuster syndrome

• Kuzniecky Andermann syndrome

• Kyasanur Forest disease

• Kyphoscoliotic Ehlers-Danlos syndrome

• Kyrle disease

• L-2-hydroxyglutaric aciduria

• L-arginine:glycine amidinotransferase deficiency

• L1 syndrome

• La Crosse encephalitis

• Laband syndrome

• Labrador lung

• Lachiewicz Sibley syndrome

• Lacrimo-auriculo-dento-digital syndrome

• Lactate dehydrogenase A deficiency

• Lactate dehydrogenase B deficiency

• Lactate dehydrogenase deficiency

• Lactate dehydrogenase deficiency type C

• Lactobezoar

• Lafora disease

• Lambert Eaton myasthenic syndrome

• Lambert syndrome

• Lamellar ichthyosis

• Landau-Kleffner syndrome

• Landy-Donnai syndrome

• Langer mesomelic dysplasia

• Langer Nishino Yamaguchi syndrome

• Langerhans cell histiocytosis

• Langerhans cell sarcoma

• Large granular lymphocyte leukemia

• Laron syndrome

• Larsen syndrome

• Larsen-like syndrome

• Laryngeal cancer

• Laryngeal cancer, childhood

• Laryngeal cleft

• Laryngeal papillomatosis

• Laryngocele

• Laryngomalacia

• Larynx atresia

• Larynx, congenital partial atresia of

• Late-onset distal myopathy, Markesbery-Griggs type

• Late-Onset Familial Alzheimer Disease

• Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

• Late-onset retinal degeneration

• Lateral body wall defect

• Lateral meningocele syndrome

• Lateral semicircular canal malformation, familial, with external and middle ear abnormalities

• Laterality defects dominant

• Lathosterolosis

• Lathyrism

• Lattice corneal dystrophy type 1

• Lattice corneal dystrophy type 3A

• Laugier-Hunziker syndrome

• Laurence Prosser Rocker syndrome

• Laurence-Moon syndrome

• Laurin-Sandrow syndrome

• Le Marec Bracq Picaud syndrome

• Leber congenital amaurosis

• Leber hereditary optic neuropathy

• Leber hereditary optic neuropathy with dystonia

• Ledderhose disease

• Left ventricular noncompaction

• Left-sided gallbladder

• Leg absence deformity cataract

• Legg-Calve-Perthes disease

• Legius syndrome

• Leigh syndrome

• Leigh syndrome, French Canadian type

• Leiner disease

• Leiomyomatosis of esophagus, cataract and hematuria

• Leiomyomatosis, esophageal and vulval, with nephropathy

• Leiomyosarcoma

• Leisti Hollister Rimoin syndrome

• Lelis syndrome

• Lemierre syndrome

• Lennox-Gastaut syndrome

• Lenz Majewski hyperostotic dwarfism

• Lenz microphthalmia syndrome

• LEOPARD syndrome

• Leprechaunism

• Leptospirosis

• Leri pleonosteosis

• Leri Weill dyschondrosteosis

• Lesch Nyhan syndrome

• Lethal chondrodysplasia Moerman type

• Lethal chondrodysplasia Seller type

• Lethal congenital contracture syndrome

• Lethal congenital contracture syndrome 1

• Lethal congenital contracture syndrome 11

• Lethal congenital contracture syndrome 2

• Lethal congenital contracture syndrome 4

• Lethal short limb skeletal dysplasia Al Gazali type

• Leukemia, B-cell, chronic

• Leukemia, T-cell, chronic

• Leukodystrophy

• Leukodystrophy with oligodontia

• Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia

• Leukodystrophy, hypomyelinating 3

• Leukodystrophy, pseudometachromatic

• Leukoencephalopathy - dystonia - motor neuropathy

• Leukoencephalopathy palmoplantar keratoderma

• 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

• Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema

• Leukoencephalopathy, cerebral calcifications, and cysts

• Leukomelanoderma mental redardation hypotrichosis

• Levator syndrome

• Levic Stefanovic Nikolic syndrome

• Levotransposition of the great arteries

• Levy-Yeboa syndrome

• Lewis-Sumner syndrome

• Lhermitte-Duclos disease

• Li-Fraumeni syndrome

• Lichen planopilaris

• Lichen sclerosus

• Lichtenstein syndrome

• Liddle syndrome

• Limb deficiencies distal with micrognathia

• Limb reduction defect

• Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 1A

• Limb-girdle muscular dystrophy type 1B

• Limb-girdle muscular dystrophy type 2A

• Limb-girdle muscular dystrophy type 2B

• Limb-girdle muscular dystrophy type 2E

• Limb-girdle muscular dystrophy type 2F

• Limb-girdle muscular dystrophy type 2H

• Limb-girdle muscular dystrophy type 2I

• Limb-girdle muscular dystrophy, type 2C

• Limb-girdle muscular dystrophy, type 2D

• Limb-girdle muscular dystrophy, type 2G

• Limb-mammary syndrome

• Limited cutaneous systemic sclerosis

• Limited systemic sclerosis

• Lin-Gettig syndrome

• Linear and whorled nevoid hypermelanosis

• Linear hamartoma syndrome

• Linear IgA disease

• Linear lichen planus

• Linear nevus sebaceous syndrome

• Linear porokeratosis

• Linear scleroderma

• Lip and oral cavity cancer

• Lipidosis with triglycerid storage disease

• Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules

• Lipodermatosclerosis

• Lipogranulomatosis

• Lipoid proteinosis of Urbach and Wiethe

• Liposarcoma

• Listeria infection

• Littoral cell angioma of the spleen

• Localized hypertrophic neuropathy

• Localized lipodystrophy

• Localized scleroderma

• Locked-in syndrome

• Lockwood Feingold syndrome

• Loeys-Dietz syndrome

• Loeys-Dietz syndrome type 1

• Loeys-Dietz syndrome type 2

• Loeys-Dietz syndrome type 3

• Loeys-Dietz syndrome type 4

• Logopenic progressive aphasia

• Loin pain hematuria syndrome

• Long QT syndrome 1

• Long QT syndrome 10

• Long QT syndrome 11

• Long QT syndrome 2

• Long QT syndrome 3

• Long QT syndrome 4

• Long QT syndrome 5

• Long QT syndrome 6

• Long QT syndrome 9

• Loose anagen hair syndrome

• Lopes Gorlin syndrome

• Lowe oculocerebrorenal syndrome

• Lower mesodermal defects sequence

• Lowry Maclean syndrome

• Lowry Wood syndrome

• Lubani Al Saleh Teebi syndrome

• Lubinsky syndrome

• Lucey-Driscoll syndrome

• Lujan syndrome

• Lumbar malsegmentation short stature

• Lung adenocarcinoma

• Lupus erythematosus tumidus

• Lupus nephritis

• Lymphatic filariasis

• Lymphatic malformations

• Lymphedema and cerebral arteriovenous anomaly

• Lymphedema, microcephaly and chorioretinopathy syndrome

• Lymphedema-distichiasis syndrome

• Lymphocytic infiltrate of Jessner

• Lymphogranuloma venereum

• Lymphoma AIDS related

• Lymphoma, gastric non Hodgkins type

• Lymphoma, large-cell

• Lymphoma, large-cell, immunoblastic

• Lymphomatoid granulomatosis

• Lymphomatous thyroiditis

• Lymphosarcoma

• Lysinuric protein intolerance

• Mac Dermot Winter syndrome

• Macrocephaly mesodermal hamartoma spectrum

• Macrocephaly, benign familial

• Macrocephaly-short stature-paraplegia syndrome

• Macrodactyly of the foot

• Macrodactyly of the hand

• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance

• Macroglossia

• Macrophage activation syndrome

• Macrophagic myofasciitis

• Macrosomia with lethal microphthalmia

• Macrothrombocytopenia progressive deafness

• Macrozoospermia

• Macular dystrophy, atypical vitelliform

• Macular dystrophy, concentric annular

• Macular dystrophy, corneal type 1

• Macules hereditary congenital hypopigmented and hyperpigmented

• Madelung deformity

• Madokoro Ohdo Sonoda syndrome

• Maffucci syndrome

• MAGIC syndrome

• Majeed syndrome

• Mal de debarquement syndrome

• Malaria

• Male infertility with spermatogenesis disorder due to single gene mutation

• Male pseudohermaphroditism due to defective LH molecule

• Male pseudohermaphroditism intellectual disability syndrome, Verloes type

• Malignant cylindroma

• Malignant eccrine spiradenoma

• Malignant germ cell tumor

• Malignant hyperthermia

• Malignant hyperthermia arthrogryposis torticollis

• Malignant hyperthermia susceptibility type 1

• Malignant hyperthermia susceptibility type 2

• Malignant hyperthermia susceptibility type 3

• Malignant hyperthermia susceptibility type 4

• Malignant hyperthermia susceptibility type 5

• Malignant hyperthermia susceptibility type 6

• Malignant migrating partial seizures of infancy

• Malignant mixed Mullerian tumor

• Malignant peripheral nerve sheath tumor

• Malignant Teratocarcinosarcoma

• Mallory-Weiss syndrome

• Malonyl-CoA decarboxylase deficiency

• Mandibuloacral dysplasia

• Mandibuloacral dysplasia with type A lipodystrophy

• Mandibuloacral dysplasia with type B lipodystrophy

• Mandibulofacial dysostosis with microcephaly

• Manitoba oculotrichoanal syndrome

• Manouvrier syndrome

• Maple syrup urine disease

• Maple syrup urine disease type 1A

• Maple syrup urine disease type 1B

• Maple syrup urine disease type 2

• Marburg hemorrhagic fever

• Marchiafava Bignami disease

• Marcus Gunn phenomenon

• Marden Walker like syndrome

• Marden-Walker syndrome

• Marek disease

• Marfan syndrome

• Marfanoid habitus-autosomal recessive intellectual disability syndrome

• Marfanoid hypermobility syndrome

• Marginal glioneuronal heterotopia

• Marginal zone lymphoma

• Marie Unna congenital hypotrichosis

• Marinesco-Sjogren syndrome

• Marinesco-Sjogren-like syndrome (MSLS)

• Markel Vikkula Mulliken syndrome

• Maroteaux Fonfria syndrome

• Maroteaux Stanescu Cousin syndrome

• Marphanoid syndrome type De Silva

• Marsden Nyhan Sakati syndrome

• Marshall syndrome

• Marshall-Smith syndrome

• Martinez Monasterio Pinheiro syndrome

• Martsolf syndrome

• MASS syndrome

• Massa Casaer Ceulemans syndrome

• Mast cell activation syndrome

• Mastocytic enterocolitis

• Mastocytosis cutaneous with short stature conductive hearing loss and microtia

• Mastroiacovo De Rosa Satta syndrome

• Mastroiacovo Gambi Segni syndrome

• Maternal hyperphenylalaninemia

• Maternally inherited diabetes and deafness

• Matsoukas Liarikos Giannika syndrome

• Maturity-onset diabetes of the young

• Maumenee syndrome

• Maxillary double lip

• Maxillonasal dysplasia, Binder type

• May-Thurner syndrome

• MBD25–related intellectual disability

• McCallum Macadam Johnston syndrome

• McCune-Albright syndrome

• McDonough syndrome

• McDowall syndrome

• McGillivray syndrome

• McKusick Kaufman syndrome

• McLeod neuroacanthocytosis syndrome

• McPherson Clemens syndrome

• McPherson Robertson Cammarano syndrome

• MDP syndrome

• Meacham Winn Culler syndrome

• Meckel syndrome

• Meckel syndrome type 2

• Meckel syndrome type 3

• Meconium aspiration syndrome

• MECP2 duplication syndrome

• MED13L haploinsufficiency syndrome

• Medeira-Dennis-Donnai syndrome

• Medial Medullary Syndrome

• Median cleft of upper lip with polyps of facial skin and nasal mucosa

• Median nodule of the upper lip

• Mediastinal endodermal sinus tumors

• Medium-chain acyl-coenzyme A dehydrogenase deficiency

• Medrano Roldan syndrome

• Medullary sponge kidney

• Meesmann corneal dystrophy

• Megacystis microcolon intestinal hypoperistalsis syndrome

• Megaduodenum and/or megacystis

• Megaepiphyseal dwarfism

• Megalencephalic leukoencephalopathy with subcortical cysts

• Megalencephaly-capillary malformation syndrome

• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

• Megaloblastic anemia due to dihydrofolate reductase deficiency

• Megalocornea - spherophakia - secondary glaucoma

• Megalocornea-intellectual disability syndrome

• Megalocytic interstitial nephritis

• Megarbane Jalkh syndrome

• Megarbane syndrome

• MEGDEL syndrome

• Mehes syndrome

• Mehta Lewis Patton syndrome

• Meier Blumberg Imahorn syndrome

• Meier-Gorlin syndrome

• Meige syndrome

• Meinecke syndrome

• Melanoma astrocytoma syndrome

• Melanoma-associated retinopathy

• Melhem Fahl syndrome

• Melkersson-Rosenthal syndrome

• Melnick-Needles syndrome

• Melorheostosis

• Melorheostosis with osteopoikilosis

• Membranoproliferative glomerulonephritis

• Membranous nephropathy

• Mendelian susceptibility to mycobacterial diseases

• Menetrier disease

• Mental retardation macrocephaly coarse facies hypotonia

• Mental retardation short stature microcephaly eye

• Mental retardation skeletal dysplasia abducens palsy

• Mental retardation Smith Fineman Myers type

• Mental retardation X-linked syndromic 11

• Mental retardation X-linked syndromic 7

• Mental retardation, keratoconus, febrile seizures, and sinoatrial block

• Mental retardation, X-linked 14

• Meralgia paresthetica

• Mercury poisoning

• Merkel cell carcinoma

• Merlob Grunebaum Reisner syndrome

• Mesangial proliferative glomerulonephritis

• Mesangioproliferative glomerulopathy

• Mesomelia-synostoses syndrome

• Mesomelic dwarfism cleft palate camptodactyly

• Mesomelic dwarfism of hypoplastic tibia and radius type

• Mesomelic dysplasia Kantaputra type

• Mesomelic dysplasia Savarirayan type

• Metacarpals 4 and 5 fusion

• Metachondromatosis

• Metachromatic leukodystrophy

• Metachromatic leukodystrophy due to saposin B deficiency

• Metaphyseal acroscyphodysplasia

• Metaphyseal chondrodysplasia Schmid type

• Metaphyseal chondrodysplasia Spahr type

• Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands

• Metaphyseal chondrodysplasia, others

• Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

• Metaphyseal dysplasia maxillary hypoplasia brachydactyly

• Metaphyseal dysplasia without hypotrichosis

• Metaphyseal undermodeling, spondylar dysplasia, and overgrowth

• Metaplastic carcinoma of the breast

• Metastatic squamous neck cancer with occult primary

• Metatropic dysplasia

• Methimazole antenatal exposure

• Methionine adenosyltransferase deficiency

• Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblC

• Methylmalonic acidemia with homocystinuria type cblD

• Methylmalonic acidemia with homocystinuria type cblF

• Methylmalonic acidemia with homocystinuria type cblJ

• Methylmalonic aciduria microcephaly cataract

• Methylmalonic aciduria, cblA type

• Methylmalonic aciduria, cblB type

• Mevalonic aciduria

• Michelin tire baby syndrome

• Michels Caskey syndrome

• Micro syndrome

• Microbrachycephaly ptosis cleft lip

• Microcephalic osteodysplastic primordial dwarfism type 1

• Microcephalic osteodysplastic primordial dwarfism type 2

• Microcephalic primordial dwarfism Toriello type

• Microcephalic primordial dwarfism, Montreal type

• Microcephaly

• Microcephaly autosomal dominant

• Microcephaly brain defect spasticity hypernatremia

• Microcephaly cervical spine fusion anomalies

• Microcephaly chorioretinopathy recessive form

• Microcephaly deafness syndrome

• Microcephaly glomerulonephritis Marfanoid habitus

• Microcephaly hypergonadotropic hypogonadism short stature

• Microcephaly microcornea syndrome Seemanova type

• Microcephaly micropenis convulsions

• Microcephaly microphthalmos blindness

• Microcephaly nonsyndromal

• Microcephaly pontocerebellar hypoplasia dyskinesia

• Microcephaly with chorioretinopathy, autosomal dominant form

• Microcephaly with spastic quadriplegia

• Microcephaly, corpus callosum dysgenesis and cleft lip-palate

• Microcephaly, holoprosencephaly, and intrauterine growth retardation

• Microcephaly-albinism-digital anomalies syndrome

• Microcephaly-cardiomyopathy

• Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

• Microcornea posterior megalolenticonus persistent fetal vasculature coloboma

• Microcornea corectopia macular hypoplasia

• Microcornea, glaucoma, and absent frontal sinuses

• Microcystic adnexal carcinoma

• Microcystic lymphatic malformation

• Microdontia hypodontia short stature

• Microduplication Xp11.22-p11.23 syndrome

• Microencephaly

• Microgastria limb reduction defect

• Microhydranencephaly

• Microphthalmia

• Microphthalmia associated with colobomatous cyst

• Microphthalmia microtia fetal akinesia

• Microphthalmia syndromic 10

• Microphthalmia syndromic 4

• Microphthalmia syndromic 5

• Microphthalmia syndromic 6

• Microphthalmia syndromic 8

• Microphthalmia syndromic 9

• Microphthalmia with cataract 1

• Microphthalmia with linear skin defects syndrome

• Microscopic polyangiitis

• Microsomia hemifacial radial defects

• Microspherophakia with hernia

• Microsporidiosis

• Microtia eye coloboma and imperforation of the nasolacrimal duct

• Microtia, meatal atresia and conductive deafness

• Microtia-Anotia

• Microvillus inclusion disease

• Midline cleft of lower lip

• Midline lethal granuloma

• Midphalangeal hair

• Mietens-Weber syndrome

• Migraine with brainstem aura

• Mild phenylketonuria

• Miller syndrome

• Miller-Dieker syndrome

• Miller-Fisher syndrome

• Milner Khallouf Gibson syndrome

• Milroy disease

• Minicore myopathy with external ophthalmoplegia

• Minicore myopathy, antenatal onset, with arthrogryposis

• MIRAGE syndrome

• Mirizzi syndrome

• Mirror polydactyly segmentation and limbs defects

• Mitochondrial complex I deficiency

• Mitochondrial complex II deficiency

• Mitochondrial complex III deficiency

• Mitochondrial complex V deficiency

• Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia

• Mitochondrial DNA-associated Leigh syndrome

• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

• Mitochondrial genetic disorders

• Mitochondrial Membrane Protein-Associated Neurodegeneration

• Mitochondrial myopathy with diabetes

• Mitochondrial myopathy with lactic acidosis

• Mitochondrial neurogastrointestinal encephalopathy syndrome

• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

• Mitochondrial trifunctional protein deficiency

• Mitral atresia

• Mitral valve prolapse, familial, autosomal dominant

• Mitral valve prolapse, familial, X-linked

• Miura syndrome

• Moebius axonal neuropathy hypogonadism

• Moebius syndrome

• Mohr-Tranebjaerg syndrome

• Mollaret meningitis

• Moloney syndrome

• Molybdenum cofactor deficiency

• MOMO syndrome

• Mondor disease

• Monilethrix

• Monoclonal gammopathy of undetermined significance

• Monoclonal mast cell activation syndrome

• Monomelic amyotrophy

• Mononeuritis multiplex

• Montefiore syndrome

• Morel's ear

• Morgagni-Stewart-Morel syndrome

• Morgellons

• MORM syndrome

• Morning glory syndrome

• Morphea

• Morquio syndrome B

• Morse-Rawnsley-Sargent syndrome

• Morvan's fibrillary chorea

• Mosaic trisomy 13

• Mosaic trisomy 14

• Mosaic trisomy 22

• Mosaic trisomy 6

• Mosaic trisomy 7

• Mosaic trisomy 8

• Mosaic trisomy 9

• Mosaic variegated aneuploidy syndrome

• Motor neuro-ophthalmic disorders

• Motor sensory neuropathy type 1 aplasia cutis congenita

• Mounier-Kuhn syndrome

• Mousa Al din Al Nassar syndrome

• Mowat-Wilson syndrome

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

• MSBD syndrome

• Muckle-Wells syndrome

• Mucoepidermoid carcinoma

• Mucopolysaccharidosis

• Mucopolysaccharidosis type I

• Mucopolysaccharidosis type II

• Mucopolysaccharidosis type III

• Mucopolysaccharidosis type IIIA

• Mucopolysaccharidosis type IIIB

• Mucopolysaccharidosis type IIIC

• Mucopolysaccharidosis type IIID

• Mucopolysaccharidosis type IV

• Mucopolysaccharidosis type IVA

• Mucopolysaccharidosis type VI

• Mucopolysaccharidosis type VII

• Muenke Syndrome

• Muir-Torre syndrome

• Mulibrey Nanism

• Muller Barth Menger syndrome

• Mullerian aplasia

• Multicentric carpotarsal osteolysis syndrome

• Multicentric Castleman Disease

• Multicentric osteolysis nephropathy

• Multicentric reticulohistiocytosis

• Multicore disease

• Multicystic renal dysplasia, bilateral

• Multifocal choroiditis

• Multifocal fibrosclerosis

• Multifocal lymphangioendotheliomatosis with thrombocytopenia

• Multifocal motor neuropathy

• Multiple carboxylase deficiency

• Multiple congenital anomalies-hypotonia-seizures syndrome type 2

• Multiple endocrine neoplasia type 1

• Multiple endocrine neoplasia type 2

• Multiple endocrine neoplasia type 2A

• Multiple endocrine neoplasia type 2B

• Multiple familial trichoepithelioma

• Multiple fibrofolliculoma familial

• Multiple mitochondrial dysfunctions syndrome

• Multiple pterygium syndrome Escobar type

• Multiple pterygium syndrome lethal type

• Multiple pterygium syndrome X-linked

• Multiple respiratory chain enzyme deficiencies

• Multiple symmetric lipomatosis

• Multiple synostoses syndrome 1

• Multiple synostoses syndrome 2

• Multiple system atrophy

• Multisystemic smooth muscle dysfunction syndrome

• Munchausen by proxy syndrome

• Mungan syndrome

• MURCS association

• Muscle eye brain disease

• Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus

• Muscular dystrophy

• Muscular dystrophy limb girdle type 2A, Erb type

• Muscular dystrophy white matter spongiosis

• Muscular dystrophy, congenital, infantile with cataract and hypogonadism

• Muscular dystrophy, congenital, megaconial type

• Muscular dystrophy, congenital, merosin-positive

• Muscular fibrosis multifocal obstructed vessels

• Muscular phosphorylase kinase deficiency

• Musculocontractural Ehlers-Danlos syndrome

• Myasthenia gravis

• Myasthenia gravis congenital

• Myasthenia gravis, limb-girdle

• Mycobacterium Abscessus

• Mycobacterium Avium Complex

• Mycobacterium Chelonae

• Mycobacterium fortuitum

• Mycobacterium Gordonae

• Mycobacterium Kansasii

• Mycobacterium Malmoense

• Mycobacterium Marinum

• Mycobacterium tuberculosis, susceptibility to infection by

• Mycobacterium Xenopi

• Myelocerebellar disorder

• Myelocytic leukemia-like syndrome, familial, chronic

• Myelodysplastic syndromes

• Myelodysplastic/myeloproliferative disease

• Myelofibrosis

• Myeloid sarcoma

• Myeloperoxidase deficiency

• MYH7-related scapuloperoneal myopathy

• MYH9 related thrombocytopenia

• Myhre syndrome

• Myocarditis

• Myoclonic epilepsy with ragged red fibers

• Myoclonus cerebellar ataxia deafness

• Myoclonus epilepsy partial seizure

• Myoclonus hereditary progressive distal muscular atrophy

• Myoepithelial carcinoma

• Myofibrillar lysis

• Myofibrillar myopathy

• Myoglobinuria dominant form

• Myoglobinuria recurrent

• Myopathic carnitine deficiency

• Myopathy mitochondrial cataract

• Myopathy with extrapyramidal signs

• Myopathy, limb-girdle, with bone fragility

• Myosin storage myopathy

• Myostatin-related muscle hypertrophy

• Myotonia atrophica

• Myotonic dystrophy

• Myotonic dystrophy type 1

• Myotonic dystrophy type 2

• Myxoid liposarcoma

• Myxopapillary ependymoma

• N acetyltransferase deficiency

• N syndrome

• Nablus mask-like facial syndrome

• NADH cytochrome B5 reductase deficiency

• Naegeli syndrome

• Nager acrofacial dysostosis

• Naguib-Richieri-Costa syndrome

• Nail-patella syndrome

• Nakajo Nishimura syndrome

• Nakajo syndrome

• Nance-Horan syndrome

• Narcolepsy

• Narrow oral fissure short stature cone shaped epiphyses

• Nasal cavity cancer, childhood

• Nasodigitoacoustic syndrome

• Nasopalpebral lipoma coloboma syndrome

• Nasopharyngeal cancer, childhood

• Nasopharyngeal carcinoma

• Natal teeth, intestinal pseudoobstruction and patent ductus

• Nathalie syndrome

• Native American myopathy

• Necrobiosis lipoidica

• Necrobiotic xanthogranuloma

• Necrotizing autoimmune myopathy

• Necrotizing enterocolitis

• Necrotizing fasciitis

• Negative rheumatoid factor polyarthritis

• Neisseria meningitidis infection

• Nelson syndrome

• Neonatal adrenoleukodystrophy

• Neonatal hemochromatosis

• Neonatal herpes

• Neonatal hypothyroidism

• Neonatal intrahepatic cholestasis caused by citrin deficiency

• Neonatal ovarian cyst

• Neonatal progeroid syndrome

• Neonatal severe hyperparathyroidism

• Neonatal stroke

• Neonatal systemic lupus erythematosus

• Nephrocalcinosis

• Nephrogenic diabetes insipidus

• Nephrogenic Systemic Fibrosis

• Nephronophthisis

• Nephronophthisis familial adult spastic quadriparesis

• Nephropathic cystinosis

• Nephropathy familial with hyperuricemia

• Nephropathy, deafness, and hyperparathyroidism

• Nephrosclerosis

• Nephrosis deafness urinary tract digital malformation

• Nephrotic syndrome ocular anomalies

• Nephrotic syndrome, idiopathic, steroid-resistant

• Nestor-guillermo progeria syndrome

• Netherton syndrome

• Neu Laxova syndrome

• Neuhauser Daly Magnelli syndrome

• Neuhauser Eichner Opitz syndrome

• Neural crest tumor

• Neuroacanthocytosis

• Neuroaxonal dystrophy renal tubular acidosis

• Neuroblastoma

• Neurocutaneous melanosis

• Neurodegeneration with brain iron accumulation

• Neuroectodermal endocrine syndrome

• Neuroendocrine carcinoma of the cervix

• Neuroendocrine tumor

• Neuroepithelioma

• Neurofaciodigitorenal syndrome

• Neuroferritinopathy

• Neurofibroma

• Neurofibromatosis

• Neurofibromatosis type 1

• Neurofibromatosis type 2

• Neurofibromatosis-Noonan syndrome

• Neurofibrosarcoma

• Neurogenic hypertension

• Neuroleptic malignant syndrome

• Neuroma biliary tract

• Neuromyelitis optica

• Neuromyelitis optica spectrum disorder

• Neuronal ceroid lipofuscinosis

• Neuronal ceroid lipofuscinosis 10

• Neuronal ceroid lipofuscinosis 2

• Neuronal ceroid lipofuscinosis 3

• Neuronal ceroid lipofuscinosis 5

• Neuronal ceroid lipofuscinosis 6

• Neuronal ceroid lipofuscinosis 7

• Neuronal ceroid lipofuscinosis 9

• Neuronal interstitial dysplasia

• Neuronal intranuclear inclusion disease

• Neuropathy ataxia retinitis pigmentosa syndrome

• Neuropathy sensory spastic paraplegia

• Neuropathy, congenital, with arthrogryposis multiplex

• Neuropathy, distal hereditary motor, Jerash type

• Neuropathy, hereditary motor and sensory, Okinawa type

• Neuropathy, hereditary motor and sensory, Russe type

• Neurosyphilis

• Neurotoxicity syndromes

• Neutral lipid storage disease with myopathy

• Neutropenia chronic familial

• Neutropenia lethal congenital with eosinophilia

• Neutropenia monocytopenia deafness

• Neutrophil-specific granule deficiency

• Nevoid basal cell carcinoma syndrome

• Nevus comedonicus syndrome

• New daily-persistent headache

• NF-kappa B Essential Modulator Deficiency

• Nguyen syndrome

• Nicolaides-Baraitser syndrome

• Nievergelt syndrome

• Night blindness-skeletal anomalies-dysmorphism syndrome

• Nijmegen breakage syndrome

• Nipah virus encephalitis

• Noble Bass Sherman syndrome

• Nocardiosis

• Nodding syndrome

• Nodular melanoma

• Nodular nonsuppurative panniculitis

• Nodular regenerative hyperplasia

• Non 24 hour sleep wake disorder

• Non functioning pancreatic endocrine tumor

• Non-dystrophic myotonic disorders

• Non-Hodgkin lymphoma, during pregnancy

• Non-Langerhans-Cell Histiocytosis

• Non-lissencephalic cortical dysplasia

• Non-small cell lung cancer, childhood

• Nonbullous congenital ichthyosiform erythroderma

• Nondystrophic myotonia

• Nonmedullary thyroid carcinoma, with or without cell oxyphilia

• Nonseminomatous germ cell tumor

• Nonspherocytic hemolytic anemia due to hexokinase deficiency

• Nonsyndromic hereditary sensorineural hearing loss

• Nontuberculous mycobacterial lung disease

• Noonan syndrome

• Noonan-like syndrome with loose anagen hair

• Noonan-like/multiple giant cell lesion syndrome

• Normokalemic periodic paralysis

• Normophosphatemic familial tumoral calcinosis

• Norrie disease

• NORSE

• North Carolina macular dystrophy

• Northern epilepsy

• Not otherwise specified 3-MGA-uria type

• Nova syndrome

• Novak syndrome

• Nuclear gene-encoded Leigh syndrome

• Nystagmus, congenital motor, autosomal recessive

• Nystagmus, hereditary vertical

• O Donnell Pappas syndrome

• Occipital horn syndrome

• Ochoa syndrome

• Ochronosis

• Ocular albinism type 1

• Ocular cicatricial pemphigoid

• Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities

• Ocular melanoma

• Ocular motility disorders

• Ocular Muscular Dystrophy

• Ocular neuromyotonia

• Ocular toxoplasmosis

• Oculo digital syndrome

• Oculo skeletal renal syndrome

• Oculo-auriculo-vertebral spectrum

• Oculo-cerebral dysplasia

• Oculoauriculofrontonasal syndrome

• Oculocerebral hypopigmentation syndrome type Preus

• Oculocerebral syndrome with hypopigmentation

• Oculocerebrocutaneous syndrome

• Oculodentoosseous dysplasia recessive

• Oculoectodermal syndrome

• Oculofaciocardiodental syndrome

• Oculomotor apraxia Cogan type

• Oculopharyngeal muscular dystrophy

• Oculopharyngodistal myopathy

• Oculorenocerebellar syndrome

• Odontoma dysphagia syndrome

• Odontomicronychial dysplasia

• Odontoonychodermal dysplasia

• Odontotrichomelic syndrome

• Ogilvie syndrome

• Okamoto syndrome

• Olfactory neuroblastoma

• Oligoastrocytoma

• Oligodactyly tetramelic postaxial

• Oligodendroglioma

• Oligomeganephronic renal hypoplasia

• Oliver syndrome

• Olivopontocerebellar atrophy

• Olivopontocerebellar atrophy deafness

• Ollier disease

• Olmsted syndrome

• Omenn syndrome

• Omphalocele cleft palate syndrome lethal

• Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

• Omphalomesenteric cyst

• Omsk hemorrhagic fever

• Onchocerciasis

• Onychocytic matricoma

• Onychodystrophy-anonychia

• Onychotrichodysplasia and neutropenia

• OPHN1 syndrome

• Ophthalmoplegic Muscular dystrophy

• Opisthorchiasis

• Opitz G/BBB syndrome

• Opsoclonus-myoclonus syndrome

• Opthalmoplegia myalgia tubular aggregates

• Opthalmoplegia progressive external scoliosis

• Optic atrophy 1

• Optic atrophy 1 and deafness

• Optic atrophy 2

• Optic atrophy 5

• Optic atrophy 6

• Optic atrophy opthalmoplegia ptosis deafness myopia

• Optic atrophy polyneuropathy deafness

• Optic nerve hypoplasia, familial bilateral

• Optic neuritis

• Opticoacoustic nerve atrophy dementia

• Oral cancer

• Oral leukoplakia

• Oral pharyngeal disorders

• Oral squamous cell carcinoma

• Oral submucous fibrosis

• Orbital lymphangioma

• Orbital lymphoma

• Orbital melanoma

• Orbital varix

• Organic acidemia

• Organic mood syndrome

• Ornithine transcarbamylase deficiency

• Ornithine translocase deficiency syndrome

• Ornithinemia

• Oro-mandibular-limb hypogenesis syndrome

• Orofaciodigital syndrome 1

• Orofaciodigital syndrome 10

• Orofaciodigital syndrome 11

• Orofaciodigital syndrome 12

• Orofaciodigital syndrome 13

• Orofaciodigital syndrome 2

• Orofaciodigital syndrome 3

• Orofaciodigital syndrome 4

• Orofaciodigital syndrome 5

• Orofaciodigital syndrome 8

• Orofaciodigital syndrome 9

• Orofaciodigital syndromes

• Oropharyngeal cancer, adult

• Oropharyngeal cancer, childhood

• Orotic aciduria type 1

• Orstavik Lindemann Solberg syndrome

• Oslam syndrome

• OSMED Syndrome

• Ossicular Malformations, familial

• Osteoarthropathy of fingers familial

• Osteochondritis dissecans

• Osteochondroma

• Osteodysplasia familial Anderson type

• Osteodysplasty precocious of Danks Mayne and Kozlowski

• Osteofibrous dysplasia

• Osteogenesis imperfecta

• Osteogenesis imperfecta Levin type

• Osteogenesis imperfecta type I

• Osteogenesis imperfecta type II

• Osteogenesis imperfecta type III

• Osteogenesis imperfecta type IV

• Osteogenesis imperfecta type IX

• Osteogenesis imperfecta type V

• Osteogenesis imperfecta type VI

• Osteogenesis imperfecta type VII

• Osteogenesis imperfecta type VIII

• Osteolysis syndrome recessive

• Osteopathia striata cranial sclerosis

• Osteopathia striata with pigmentary dermopathy including white forelock

• Osteopenia and sparse hair

• Osteopetrosis

• Osteopetrosis and infantile neuroaxonal dystrophy

• Osteopetrosis autosomal dominant type 1

• Osteopetrosis autosomal dominant type 2

• 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

• Osteopoikilosis and dacryocystitis

• Osteoporosis oculocutaneous hypopigmentation syndrome

• Osteoporosis-pseudoglioma syndrome

• Osteosarcoma

• Osteosclerosis abnormalities of nervous system and meninges

• Osteosclerosis with ichthyosis and premature ovarian failure

• Ostium secundum atrial septal defect

• Oto-Palatal-digital syndrome

• Oto-palato-digital syndrome type 1

• Oto-palato-digital syndrome type 2

• Otofaciocervical syndrome

• Otoonychoperoneal syndrome

• Otosclerosis, familial

• 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

• Pachydermoperiostosis

• Pachygyria

• Pachygyria, frontotemporal

• Pachygyria-intellectual disability-epilepsy syndrome

• PACS1-related syndrome

• Paget disease of the breast

• PAGOD syndrome

• Pagon Stephan syndrome

• Paine syndrome

• Painful legs and moving toes syndrome

• Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

• Palant cleft palate syndrome

• Palatopharyngeal incompetence

• Pallidopyramidal syndrome

• Pallister W syndrome

• Pallister-Hall syndrome

• Pallister-Killian mosaic syndrome

• Palmer Pagon syndrome

• Palmoplantar keratoderma

• Palmoplantar keratoderma of Sybert

• Palmoplantar keratoderma, epidermolytic

• Palmoplantar keratoderma-sclerodactyly syndrome

• Pancreatic adenoma

• Pancreatic cancer, childhood

• Pancreatic islet cell tumors

• Pancreatic lipomatosis duodenal stenosis

• Pancreatic neuroendocrine tumor

• Pancreatitis, pediatric

• Pancreatoblastoma

• Panhypopituitarism X-linked

• Panostotic fibrous dysplasia

• Pantothenate kinase-associated neurodegeneration

• Papillary cystadenocarcinoma

• Papillary eccrine adenoma

• Papillary glioneuronal tumors

• Papillary renal cell carcinoma

• Papillary thyroid carcinoma

• Papillon Lefevre syndrome

• Papular epidermal nevi with skyline basal cell layers syndrome

• Papular mucinosis

• Papular urticaria

• Paracoccidioidomycosis

• Paraganglioma and gastric stromal sarcoma

• Paragangliomas 1

• Paragangliomas 2

• Paragangliomas 3

• Paragangliomas 4

• Paragonimiasis

• Parainfluenza virus type 3

• Paralysis agitans, juvenile, of Hunt

• Paramyotonia congenita

• Paranasal sinus cancer, adult

• Paranasal sinus cancer, childhood

• Paraneoplastic cerebellar degeneration

• Paraneoplastic Neurologic Disorders

• Paraomphalocele

• Paraplegia

• Parapsoriasis

• Paraquat lung

• Parastremmatic dwarfism

• Parathyroid cancer, childhood

• Parathyroid carcinoma

• PARC syndrome

• Paris-Trousseau thrombocytopenia

• Parkes Weber syndrome

• Parkinson disease type 3

• Parkinson disease type 9

• Paroxysmal cold hemoglobinuria

• Paroxysmal exertion-induced dyskinesia

• Paroxysmal extreme pain disorder

• Paroxysmal hemicrania

• Paroxysmal kinesigenic choreoathetosis

• Paroxysmal nocturnal hemoglobinuria

• Paroxysmal ventricular fibrillation

• Paroxysomal nonkinesigenic dyskinesia

• Pars planitis

• Parsonage Turner syndrome

• Partial androgen insensitivity syndrome

• Partial atrioventricular canal

• Partial deletion of Y

• Partial duplication of the short arm of chromosome X

• Partington syndrome

• Parvovirus antenatal infection

• Passos-Bueno syndrome

• Pasteurella multocida infection

• Patel Bixler syndrome

• Patent ductus arteriosus

• Paternal uniparental disomy of chromosome 14

• Patterned dystrophy of retinal pigment epithelium

• Patterson pseudoleprechaunism syndrome

• Patterson-Stevenson-Fontaine syndrome

• Pauciarticular chronic arthritis

• Pauciarticular onset juvenile idiopathic arthritis

• PCDH19-related female-limited epilepsy

• PDGFRB-associated chronic eosinophilic leukemia

• Pearson syndrome

• Pectus carinatum

• Pediatric acute-onset neuropsychiatric syndrome

• Pediatric Crohn's disease

• Pediatric hypertension

• Pediatric multiple sclerosis

• Pediatric T-cell leukemia

• Pediatric ulcerative colitis

• Peeling skin syndrome

• PEHO syndrome

• Pelger-Huet anomaly

• Pelizaeus-Merzbacher disease

• Pelizaeus-Merzbacher-like disease

• Pellagra

• Pellagra like syndrome

• Pellucid marginal degeneration

• Pelvic dysplasia arthrogryposis of lower limbs

• Pemphigus vulgaris

• Pendred syndrome

• Penile cancer, adult

• Penile cancer, childhood

• Penoscrotal transposition

• Pentalogy of Cantrell

• Pentosuria

• Penttinen-Aula syndrome

• Peptidic growth factors deficiency

• Perilymphatic fistula

• Perimyositis

• Perineurioma

• Periodic fever, aphthous stomatitis, pharyngitis and adenitis

• Periodontal Ehlers-Danlos syndrome

• Peripartum cardiomyopathy

• Peripheral resistance to thyroid hormones

• Peripheral T-cell lymphoma

• Periventricular heterotopia

• Periventricular leukomalacia

• Perlman syndrome

• Permanent neonatal diabetes mellitus

• Perniosis

• Peroxisomal beta-oxidation disorder

• Peroxisomal biogenesis disorders

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

• Perrault syndrome

• Perry syndrome

• Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly

• Persistent genital arousal disorder

• Persistent Mullerian duct syndrome

• Persistent truncus arteriosus

• Peters anomaly

• Peters plus syndrome

• Petit-Fryns syndrome

• Peutz-Jeghers syndrome

• Pfeiffer Kapferer syndrome

• Pfeiffer Mayer syndrome

• Pfeiffer Palm Teller syndrome

• Pfeiffer Rockelein syndrome

• Pfeiffer syndrome

• Pfeiffer Tietze Welte syndrome

• PHACE syndrome

• Phacomatosis pigmentokeratotica

• Phacomatosis pigmentovascularis

• PHAVER syndrome

• Phenobarbital antenatal exposure

• Phenylketonuria

• Pheochromocytoma

• Pheochromocytoma, childhood

• Pheochromocytoma-islet cell tumor syndrome

• Philadelphia-negative chronic myeloid leukemia

• Phocomelia ectrodactyly deafness sinus arrhythmia

• Phosphoglycerate kinase deficiency

• Phosphoglycerate mutase deficiency

• Phosphomannoisomerase deficiency

• Phosphoribosylpyrophosphate synthetase deficiency

• Phosphoserine aminotransferase deficiency

• Phyllodes tumor of the breast

• Phyllodes tumor of the prostate

• Piepkorn Karp Hickok syndrome

• Pierre Robin sequence

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

• Pierre Robin syndrome skeletal dysplasia polydactyly

• Pierson syndrome

• Pigment-dispersion syndrome

• Pigmented purpuric dermatosis

• Pigmented villonodular synovitis

• PIK3CA-related overgrowth spectrum

• Pili torti

• Pili torti developmental delay neurological abnormalities

• Pili torti onychodysplasia

• Pillay syndrome

• Pilo dento ungular dysplasia microcephaly

• Pilocytic astrocytoma

• Pilodental dysplasia with refractive errors

• Pilomatrixoma

• Pilotto syndrome

• Pineal germ cell tumor

• Pineal parenchymal tumors of intermediate differentiation

• Pinheiro Freire-Maia Miranda syndrome

• Piriformis syndrome

• Pitt-Hopkins syndrome

• Pitt-Hopkins-like syndrome

• Pituitary cancer

• Pituitary dwarfism with large sella turcica

• Pituitary hormone deficiency, combined 1

• Pituitary hormone deficiency, combined 3

• Pituitary hormone deficiency, combined 4

• Pituitary stalk interruption syndrome

• Pityriasis lichenoides

• Pityriasis lichenoides chronica

• Pityriasis lichenoides et varioliformis acuta

• Pityriasis rotunda

• Pityriasis rubra pilaris

• Piussan Lenaerts Mathieu syndrome

• Placenta disorder

• Plasminogen activator inhibitor type 1 deficiency

• Platelet storage pool deficiency

• Platyspondylic lethal skeletal dysplasia Torrance type

• Pleoconial myopathy with salt craving

• Pleomorphic xanthoastrocytoma

• Pleuropulmonary blastoma

• Plexosarcoma

• Plummer Vinson syndrome

• Pneumocystic carinii pneumonia

• Podder-Tolmie syndrome

• POEMS syndrome

• Poikiloderma with neutropenia

• Pointer syndrome

• Poland syndrome

• Polyarteritis nodosa

• Polyarticular onset juvenile idiopathic arthritis

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

• Polycystic liver disease

• Polycythemia vera

• Polydactyly cleft lip palate psychomotor retardation

• Polydactyly myopia syndrome

• Polydactyly postaxial dental and vertebral

• Polydactyly syndrome middle ray duplication

• Polyembryoma

• Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome

• Polymicrogyria turricephaly hypogenitalism

• Polymorphic reticulosis

• Polymorphous low-grade adenocarcinoma

• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

• Polyomavirus allograft nephropathy

• Polyosteolysis/hyperostosis syndrome

• Polyostotic osteolytic dysplasia, hereditary expansile

• Polysyndactyly cardiac malformation

• Polysyndactyly trigonocephaly agenesis of corpus callosum

• Poncet-Spiegler's cylindroma

• Pontocerebellar hypoplasia

• Pontocerebellar hypoplasia type 1

• Pontocerebellar hypoplasia type 2

• Pontocerebellar hypoplasia type 3

• Pontocerebellar hypoplasia type 4

• Pontocerebellar hypoplasia type 5

• Pontocerebellar hypoplasia type 6

• Pontoneocerebellar Hypoplasia

• Popliteal pterygium syndrome

• Popliteal pterygium syndrome, Bartsocas-Papas type

• Porencephaly

• Porencephaly cerebellar hypoplasia internal malformations

• Porokeratosis of Mibelli

• Porokeratosis, disseminated superficial actinic 1

• Porokeratosis, disseminated superficial actinic 2

• Porphyria

• Porphyria cutanea tarda

• Portal hypertension due to infrahepatic block

• Positive rheumatoid factor polyarthritis

• Posner-Schlossman syndrome

• Post Polio syndrome

• Post-infectious myocarditis

• Post-Streptococcal Neurologic Disorders

• Post-transplant lymphoproliferative disease

• Post-traumatic epilepsy

• Posterior column ataxia

• Posterior column ataxia with retinitis pigmentosa

• Posterior urethral valves

• Posterior uveitis

• Posterior valve urethra

• Postnatal progressive microcephaly, seizures, and brain atrophy

• Postorgasmic illness syndrome

• Potassium aggravated myotonia

• Potocki-Lupski syndrome

• Potocki-Shaffer syndrome

• Potter sequence

• PPM-X syndrome

• Prader-Willi habitus, osteopenia, and camptodactyly

• Prader-Willi syndrome

• Preaxial deficiency, postaxial polydactyly and hypospadias

• Preaxial polydactyly type 1

• Preaxial polydactyly type 2

• Preaxial polydactyly type 3

• Preaxial polydactyly type 4

• Precocious epileptic encephalopathy

• Precocious myoclonic encephalopathy

• Precocious puberty

• Precocious puberty, gonadotropin-dependent

• Prekallikrein deficiency, congenital

• Premature aging Okamoto type

• Presenile dementia, Kraepelin type

• Pretibial epidermolysis bullosa

• Priapism

• Primary agammaglobulinemia

• Primary amebic meningoencephalitis

• Primary angiitis of the central nervous system

• Primary basilar impression

• Primary biliary cholangitis

• Primary bone cancer

• Primary carnitine deficiency

• Primary central nervous system lymphoma

• Primary ciliary dyskinesia

• Primary cutaneous amyloidosis

• Primary effusion lymphoma

• Primary familial and congenital polycythemia

• Primary Familial Brain Calcification

• Primary Fanconi syndrome

• Primary hyperoxaluria type 1

• Primary hyperoxaluria type 2

• Primary hyperoxaluria type 3

• Primary hyperparathyroidism

• Primary hypomagnesemia with secondary hypocalcemia

• Primary intestinal lymphangiectasia

• Primary lateral sclerosis

• 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 orthostatic hypotension

• Primary orthostatic tremor

• Primary pigmented nodular adrenocortical disease

• Primary progressive aphasia

• Primary release disorder of platelets

• Primary sclerosing cholangitis

• Primary spontaneous pneumothorax

• Primary tubular proximal acidosis

• Primrose syndrome

• Prinzmetal's variant angina

• Progeria

• Progeria variant syndrome Ruvalcaba type

• Progeroid short stature with pigmented nevi

• Progeroid syndrome Petty type

• Progeroid syndrome, Penttinen type

• Prognathism mandibular

• 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

• Prolactinoma

• Prolidase deficiency

• Proliferating trichilemmal cyst

• Proliferative verrucous leukoplakia

• Proopiomelanocortin deficiency

• Properdin deficiency

• Properdin deficiency, X-linked

• Propionic acidemia

• Propriospinal myoclonus

• Prosencephaly cerebellar dysgenesis

• PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY

• Prostatic malacoplakia associated with prostatic abscess

• Prostatic stromal proliferation of uncertain malignant potential

• Prosthetic joint infection

• Protein R deficiency

• Protein S deficiency

• Proteus like syndrome mental retardation eye defect

• Proteus syndrome

• Proteus-like syndrome

• Prothrombin-related thrombophilia

• Protoporphyria

• Proud syndrome

• Proximal chromosome 18q deletion syndrome

• Proximal spinal muscular atrophy

• Proximal symphalangism

• Prune belly syndrome

• Prurigo nodularis

• Pruritic urticarial papules plaques of pregnancy

• Pseudo Pelger-Huet anomaly

• Pseudo-Turner syndrome

• Pseudo-Von Willebrand disease

• Pseudoachondroplasia

• Pseudoachondroplastic dysplasia 2

• Pseudoaminopterin syndrome

• Pseudoarylsulfatase A deficiency

• Pseudocholinesterase deficiency

• Pseudodiastrophic dysplasia

• Pseudohermaphrodism anorectal anomalies

• Pseudohyperkalemia Cardiff

• Pseudohypoaldosteronism type 2

• Pseudohypoparathyroidism

• Pseudohypoparathyroidism type 1A

• Pseudohypoparathyroidism type 1B

• Pseudohypoparathyroidism type 1C

• Pseudohypoparathyroidism type 2

• Pseudoinflammatory fundus dystrophy

• Pseudomarfanism

• Pseudomonas stutzeri infections

• Pseudomyxoma peritonei

• Pseudoneonatal adrenoleukodystrophy

• Pseudopapilledema blepharophimosis hand anomalies

• Pseudopelade of Brocq

• Pseudoprogeria syndrome

• Pseudopseudohypoparathyroidism

• Pseudotrisomy 13 syndrome

• Pseudotumor cerebri

• Pseudoxanthoma elasticum, forme fruste

• Psoriatic juvenile idiopathic arthritis

• Psychosocial short stature

• PTEN hamartoma tumor syndrome

• Pterigium Colli

• Pterygium colli mental retardation digital anomalies

• Pterygium of the conjunctiva and cornea

• Ptosis strabismus diastasis

• Ptosis strabismus ectopic pupils

• Pudendal Neuralgia

• Pulmonary alveolar microlithiasis

• Pulmonary arterial hypertension

• Pulmonary arterio-veinous fistula

• Pulmonary arteriovenous malformation

• Pulmonary artery agenesis

• Pulmonary artery coming from the aorta

• Pulmonary artery familial dilatation

• Pulmonary atresia with intact ventricular septum

• Pulmonary atresia with ventricular septal defect

• Pulmonary branches stenosis

• Pulmonary edema of mountaineers

• Pulmonary hyalinizing granuloma

• Pulmonary hypoplasia familial primary

• Pulmonary sequestration

• Pulmonary supravalvular stenosis

• Pulmonary surfactant protein B, deficiency of

• Pulmonary valve stenosis

• Pulmonary valves agenesis

• Pulmonary vein stenosis

• Pulmonary venoocclusive disease

• Pulmonary venous return anomaly

• Punctate acrokeratoderma freckle like pigmentation

• Punctate inner choroidopathy

• Punctate palmoplantar keratoderma type 2

• Punctate palmoplantar keratoderma type I

• Punctate porokeratosis

• PURA syndrome

• Pure autonomic failure

• Pure red cell aplasia

• Purine nucleoside phosphorylase deficiency

• Pustular psoriasis

• Pustulosis palmaris et plantaris

• Pyknoachondrogenesis

• Pyoderma gangrenosum

• Pyogenic arthritis, pyoderma gangrenosum and acne

• Pyridoxal 5'-phosphate-dependent epilepsy

• Pyridoxine deficiency

• Pyridoxine-dependent epilepsy

• Pyropoikilocytosis hereditary

• 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

• Qazi Markouizos syndrome

• Quebec platelet disorder

• Rabies

• Rabson-Mendenhall syndrome

• Radial defect Robin sequence

• Radial hypoplasia, triphalangeal thumbs and hypospadias

• Radial ray agenesis

• Radial ray hypoplasia choanal atresia

• Radiation induced angiosarcoma of the breast

• Radiation induced brachial plexopathy

• Radiation induced cancer

• Radiation induced meningioma

• Radio renal syndrome

• Radio-digito-facial dysplasia

• Radioulnar synostosis-microcephaly-scoliosis syndrome

• Radius absent anogenital anomalies

• Rahman syndrome

• Raine syndrome

• Ramer Ladda syndrome

• Ramon Syndrome

• Ramos Arroyo Clark syndrome

• Rapadilino syndrome

• Rapid-onset dystonia-parkinsonism

• Rapp-Hodgkin syndrome

• Rare lichen planus

• Rasmussen encephalitis

• Rasmussen Johnsen Thomsen syndrome

• Rat bite fever

• Reactive angioendotheliomatosis

• Reactive arthritis

• Reardon Wilson Cavanagh syndrome

• Recessive dystrophic epidermolysis bullosa-generalized other

• Recombinant chromosome 8 syndrome

• Rectal cancer, childhood

• Recurrent hydatidiform mole

• Recurrent peripheral facial palsy

• Recurrent respiratory papillomatosis

• Red cell phospholipid defect with hemolysis

• Red skin pigment anomaly of New Guinea

• Reducing body myopathy

• Reductional transverse limb defects

• Reese retinal dysplasia

• Refractory cytopenia with unilineage dysplasia

• Refsum disease

• Refsum disease with increased pipecolic acidemia

• Refsum disease, infantile form

• Reginato Shiapachasse syndrome

• Relapsing polychondritis

• Renal adysplasia dominant type

• Renal agenesis

• Renal agenesis meningomyelocele mullerian defect

• Renal caliceal diverticuli deafness

• Renal carcinoma, familial

• Renal cell carcinoma

• Renal cell carcinoma 4

• Renal coloboma syndrome

• Renal dysplasia diffuse autosomal recessive

• Renal dysplasia diffuse cystic

• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

• Renal dysplasia-limb defects syndrome

• Renal genital middle ear anomalies

• Renal glycosuria

• Renal hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal hypouricemia

• Renal medullary carcinoma

• Renal nutcracker syndrome

• Renal oncocytoma

• Renal rickets

• Renal tubular acidosis

• Renal tubular acidosis with deafness

• Renal tubular acidosis, distal

• Renal tubular acidosis, distal, autosomal dominant

• Renal tubular acidosis, distal, autosomal recessive

• Renal tubular acidosis, distal, type 3

• Renal tubular acidosis, distal, type 4

• Renal tubular dysgenesis

• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

• Renier Gabreels Jasper syndrome

• Renoanogenital syndrome

• Renoprival hypertension

• Renpenning syndrome 1

• Resistance to LH (luteinizing hormone)

• Respiratory distress syndrome, infant

• Reticular dysgenesis

• Reticuloendotheliosis

• Reticulohistiocytoma

• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

• Retinal cone dystrophy 1

• Retinal cone dystrophy 2

• Retinal cone dystrophy 3A

• Retinal cone dystrophy 3B

• Retinal cone dystrophy 4

• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

• Retinal dysplasia X-linked

• Retinal telangiectasia hypogammaglobulinemia

• Retinal vasculopathy with cerebral leukodystrophy

• Retinis pigmentosa deafness hypogenitalism

• Retinitis pigmentosa

• Retinitis pigmentosa-deafness syndrome

• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

• Retinoblastoma

• Retinochoroidal coloboma

• Retinohepatoendocrinologic syndrome

• Retinopathy anemia CNS anomalies

• Retinopathy aplastic anemia neurological abnormalities

• Retinopathy of prematurity

• Retinopathy pigmentary mental retardation

• Retinopathy, arteriosclerotic

• Retinoschisis autosomal dominant

• Retinoschisis of Fovea

• Retroperitoneal fibrosis

• Retroperitoneal liposarcoma

• Rett syndrome

• Reversible cerebral vasoconstriction syndrome

• Revesz syndrome

• Reye syndrome

• Reynolds Neri Hermann syndrome

• Reynolds syndrome

• RFT1-CDG (CDG-In)

• Rh deficiency syndrome

• Rhabditida Infections

• Rhabdoid tumor

• Rhabdomyomatous mesenchymal hamartoma

• Rhabdomyosarcoma alveolar

• Rhabdomyosarcoma embryonal

• Rheumatic Fever

• Rheumatoid nodulosis

• Rheumatoid vasculitis

• Rhizomelic chondrodysplasia punctata

• Rhizomelic chondrodysplasia punctata type 1

• Rhizomelic dysplasia Patterson Lowry type

• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

• Rhizomelic pseudopolyarthritis

• Rhizomelic syndrome

• RHYNS syndrome

• Ribbing disease

• Riboflavin transporter deficiency

• Richards-Rundle syndrome

• Richieri Costa Da Silva syndrome

• Richieri Costa Orquizas syndrome

• Richieri Costa Pereira syndrome

• Richieri-Costa Colletto Otto syndrome

• Richieri-Costa Guion-Almeida Cohen syndrome

• Richter syndrome

• Rickets

• Rienhoff syndrome

• Right atrium familial dilatation

• Right ventricle hypoplasia

• Rigid spine syndrome

• Ring chromosome 1

• Ring chromosome 10

• Ring chromosome 11

• Ring chromosome 12

• Ring chromosome 13

• Ring chromosome 14

• Ring chromosome 15

• Ring chromosome 16

• Ring chromosome 17

• Ring chromosome 18

• Ring chromosome 19

• Ring chromosome 2

• Ring chromosome 20

• Ring chromosome 21

• Ring chromosome 22

• Ring chromosome 3

• Ring chromosome 4

• Ring chromosome 5

• Ring chromosome 6

• Ring chromosome 7

• Ring chromosome 8

• Ring chromosome 9

• Ring dermoid of cornea

• Ringed hair disease

• Rippling muscle disease

• Rippling muscle disease, 1

• RNAse T2-deficient leukoencephalopathy

• Roberts syndrome

• Robin sequence and oligodactyly

• Robinow syndrome

• Roch-Leri mesosomatous lipomatosis

• Rocky mountain spotted fever

• Rodini Richieri Costa syndrome

• Rodrigues blindness

• ROHHAD

• Roifman syndrome

• Rokitansky sequence

• Rokitansky-Aschoff sinuses of the gallbladder

• Rombo syndrome

• Rommen Mueller Sybert syndrome

• Rosai-Dorfman disease

• Rothmund-Thomson syndrome

• Rotor syndrome

• Roussy Levy syndrome

• Rowley-Rosenberg syndrome

• Roy Maroteaux Kremp syndrome

• Rozin Hertz Goodman syndrome

• RRM2B-related mitochondrial DNA depletion syndrome

• Rubella

• Rubinstein Taybi like syndrome

• Rubinstein-Taybi syndrome

• Rud Syndrome

• Rufous oculocutaneous albinism

• Rumination disorder

• Russell-Silver syndrome

• Rutherfurd syndrome

• Ruvalcaba Churesigaew Myhre syndrome

• Ruvalcaba syndrome

• Ruzicka Goerz Anton syndrome

• Saal Bulas syndrome

• Saccharopinuria

• Sackey Sakati Aur syndrome

• Sacral defect with anterior meningocele

• Sacral hemangiomas multiple congenital abnormalities

• Sacral meningocele conotruncal heart defects

• Sacral plexopathy

• Sacrococcygeal Teratoma

• Saethre-Chotzen syndrome

• Saito Kuba Tsuruta syndrome

• Sakati syndrome

• Salcedo syndrome

• Salivary gland cancer, adult

• Salivary gland cancer, childhood

• Sammartino Decreccio syndrome

• Samson Gardner syndrome

• Samson Viljoen syndrome

• Sanderson Fraser syndrome

• Sandhaus Ben-Ami syndrome

• Sandifer syndrome

• Santos Mateus Leal syndrome

• SAPHO syndrome

• Sarcoma botryoides

• Sarcosinemia

• SATB2-associated syndrome

• Satoyoshi syndrome

• Saul Wilkes Stevenson syndrome

• Say Barber Miller syndrome

• Say Carpenter syndrome

• Say Meyer syndrome

• Say syndrome

• Say-Field-Coldwell syndrome

• Scalp ear nipple syndrome

• Scapuloperoneal syndrome, neurogenic, Kaeser type

• SCARF syndrome

• Schaaf-Yang syndrome

• Schaap Taylor