P

• 15q13.3 microduplication syndrome

• 16p11.2 deletion syndrome

• 16p11.2 duplication

• 16p13.11 microduplication syndrome

• 17-alpha-hydroxylase deficiency

• 17q12 duplication

• 19p13.12 microdeletion syndrome

• 1q duplications

• 20p12.3 microdeletion syndrome

• 22q11.2 duplication syndrome

• 2p15p16.1 microdeletion syndrome

• 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency

• 3 methylglutaconic aciduria type V

• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

• 4-hydroxyphenylacetic aciduria

• 46, XY disorders of sexual development

• 46,XX Gonadal dysgenesis epibulbar dermoid

• 46,XX testicular disorder of sex development

• 5-alpha reductase deficiency

• 5-oxoprolinase deficiency

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• 7q11.23 duplication syndrome

• 8p23.1 duplication syndrome

• 8q12 microduplication syndrome

• Abdominal chemodectomas with cutaneous angiolipomas

• Abdominal cystic lymphangioma

• Abetalipoproteinemia

• Ablepharon macrostomia syndrome

• Absence of fingerprints congenital milia

• Absence of septum pellucidum

• Absence of tibia with polydactyly

• Absent breasts and nipples

• Absent patella

• Acanthosis nigricans muscle cramps acral enlargement

• Accessory deep peroneal nerve

• Accessory pancreas

• Aceruloplasminemia

• Achalasia microcephaly syndrome

• Acheiropody

• Achondrogenesis type 1A

• Achondrogenesis type 1B

• Achondrogenesis type 2

• Achondroplasia

• Achondroplasia and severe combined immunodeficiency

• Achondroplasia and Swiss type agammaglobulinemia

• Achromatopsia 2

• Achromatopsia 3

• Acitretin embryopathy

• Acquired amegakaryocytic thrombocytopenia

• Acquired hemophilia

• Acquired hemophilia A

• Acquired hypoprothrombinemia

• Acquired pure red cell aplasia

• Acral dysostosis dyserythropoiesis syndrome

• Acral peeling skin syndrome

• Acro coxo mesomelic dysplasia

• Acro-pectoro-renal field defect

• Acrocallosal syndrome, Schinzel type

• Acrocapitofemoral dysplasia

• Acrocephalopolydactylous dysplasia

• Acrocephalopolydactyly

• Acrodermatitis enteropathica

• 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

• Acrogeria, Gottron type

• Acromegaloid facial appearance syndrome

• Acromegaloid features, overgrowth, cleft palate and hernia

• Acromegaloid hypertrichosis syndrome

• 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

• Acrospiroma

• ACTH-independent macronodular adrenal hyperplasia

• ACTH-secreting pituitary adenoma

• Actinic lichen planus

• Acute disseminated encephalomyelitis

• Acute fatty liver of pregnancy

• Acute febrile neutrophilic dermatosis

• Acute hemorrhagic leukoencephalitis

• Acute intermittent porphyria

• Acute interstitial pneumonia

• Acute lymphoblastic leukemia

• Acute lymphoblastic leukemia congenital sporadic aniridia

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

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

• Acute necrotizing encephalopathy

• Acute non lymphoblastic leukemia

• Acute panmyelosis with myelofibrosis

• Acute posterior multifocal placoid pigment epitheliopathy

• Acute promyelocytic leukemia

• Acute respiratory distress syndrome

• Acute zonal occult outer retinopathy

• Adducted thumbs Dundar type

• Adenine phosphoribosyltransferase deficiency

• Adenocarcinoma of the appendix

• Adenosine monophosphate deaminase 1 deficiency

• Adermatoglyphia

• Adiposis dolorosa

• Adnexal spiradenoma/cylindroma of a sweat gland

• ADNP syndrome

• Adolescent-onset dystonia of mixed type

• Adrenomyeloneuropathy

• Adrenomyodystrophy

• Adult neuronal ceroid lipofuscinosis

• Adult polyglucosan body disease

• Adult progressive spinal muscular atrophy Aran Duchenne type

• Adult T-cell leukemia/lymphoma

• Adult-onset citrullinemia type II

• Adult-onset dystonia-parkinsonism

• Adult-onset nemaline myopathy

• Adult-onset vitelliform macular dystrophy

• Advanced sleep phase syndrome, familial

• Adverse events of 5-alpha-reductase inhibitors

• Agammaglobulinemia X-linked type 2

• Agammaglobulinemia, microcephaly, and severe dermatitis

• Agammaglobulinemia, non-Bruton type

• Agenesis of the dorsal pancreas

• Agyria pachygyria polymicrogyria

• Agyria-pachygyria type 1

• 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 Dementia Complex

• AIDS dysmorphic syndrome

• Al Gazali Khidr Prem Chandran syndrome

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

• Albinism, minimal pigment type

• Albright's hereditary osteodystrophy

• ALG11-CDG (CDG-Ip)

• Alkaptonuria

• Allergic bronchopulmonary aspergillosis

• Allergic encephalomyelitis

• Alopecia epilepsy oligophrenia syndrome of Moynahan

• Alopecia immunodeficiency

• 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-2 deficient collagen disease

• Alpha-ketoglutarate dehydrogenase deficiency

• Alpha-mannosidosis

• Alpha-thalassemia

• Alpha-thalassemia x-linked intellectual disability syndrome

• Alpha-thalassemia-abnormal morphogenesis

• Alport syndrome

• Alternating hemiplegia of childhood

• Alveolar capillary dysplasia

• Alveolar soft part sarcoma

• Amaurosis congenita cone-rod type with congenital hypertrichosis

• Amelia cleft lip palate hydrocephalus iris coloboma

• 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

• Aminolevulinate dehydratase deficiency porphyria

• Amish lethal microcephaly

• Amish Nemaline Myopathy

• AML with myelodysplasia-related features

• Ampola syndrome

• Amyloid neuropathy

• Amyloidosis bronchopulmonary

• Amyopathic dermatomyositis

• Amyoplasia mandibulofacial dysostosis

• 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 sphincter dysplasia

• Anaplastic astrocytoma

• Anaplastic ependymoma

• Anaplastic ganglioglioma

• Anaplastic large cell lymphoma

• Anaplastic oligoastrocytoma

• Anaplastic oligodendroglioma

• Anaplastic plasmacytoma

• Anaplastic small cell lymphoma

• Anaplastic thyroid cancer

• Anauxetic dysplasia

• Anemia due to Adenosine triphosphatase deficiency

• Anemia sideroblastic and spinocerebellar ataxia

• Anencephaly

• Anencephaly and spina bifida X-linked

• Angel shaped phalangoepiphyseal dysplasia

• Angiofollicular lymph hyperplasia

• Angioimmunoblastic lymphadenopathy with dysproteinemia

• Angioimmunoblastic T-cell lymphoma

• Angioma serpiginosum, autosomal dominant

• Angioma serpiginosum, X-linked

• Angiomatosis, leptomeningeal capillary venous

• Angiomatous lymphoid hamartoma

• Angiosarcoma of the scalp

• Aniridia - ptosis - intellectual disability - familial obesity

• Aniridia absent patella

• Aniridia renal agenesis psychomotor retardation

• Ankyloblepharon filiforme adnatum cleft palate

• Ankyloblepharon filiforme imperforate anus

• Ankylosing vertebral hyperostosis with tylosis

• Annular atrophic lichen planus

• Annular lichen planus

• Annular pancreas

• Anomalous origin of right pulmonary artery familial

• 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

• Anophthalmos with limb anomalies

• Anotia facial palsy cardiac defect

• Antecubital pterygium

• Anterior ischemic optic neuropathy

• Anterior pituitary insufficiency, familial

• Anterior spinal artery stroke

• Anti-HLA hyperimmunization

• Anti-plasmin deficiency, congenital

• Antigen-peptide-transporter 2 deficiency

• Antihypertensive drugs antenatal exposure

• Antiphospholipid syndrome

• Aorta-pulmonary artery fistula

• Aortic arch anomaly - peculiar facies - intellectual disability

• Aortic arch interruption

• Aortopulmonary window

• Apert like polydactyly syndrome

• Apert syndrome

• Aphalangia partial with syndactyly and duplication of metatarsal IV

• Aphthous stomatitis

• Aplasia cutis autosomal recessive

• Aplasia cutis congenita

• Aplasia cutis congenita dominant

• Aplasia cutis congenita intestinal lymphangiectasia

• Aplasia cutis congenita of limbs recessive

• Aplasia cutis congenita recessive

• Aplasia cutis myopia

• Aplastic anemia

• Apo A-I deficiency

• Apocrine carcinoma

• Apolipoprotein C 2I deficiency

• Apparent mineralocorticoid excess

• Apraxia

• Aquagenic pruritus

• Arachnodactyly - intellectual disability - dysmorphism

• Arhinia choanal atresia microphthalmia

• Arrhythmogenic right ventricular dysplasia

• 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

• Aspartylglycosaminuria

• Aspergillosis

• Aspergillus niger infection

• Asphyxia neonatorum

• Asternia with Cardiac, Diaphragmatic, and Abdominal defects

• Ataxia - hypogonadism - choroidal dystrophy

• Ataxia-oculomotor apraxia type 1

• Ataxia-oculomotor apraxia type 4

• Ataxia-oculomotor apraxia-3

• Atelosteogenesis type 1

• Atelosteogenesis type 2

• Atelosteogenesis type 3

• 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

• Attenuated familial adenomatous polyposis

• Atypical hemolytic uremic syndrome

• Atypical mycobacteriosis, familial

• Atypical Rett syndrome

• Atypical Werner syndrome

• Auditory neuropathy spectrum disorder

• Auralcephalosyndactyly

• Auriculoosteodysplasia

• Ausems Wittebol-Post Hennekam syndrome

• Autism with port-wine stain

• Autoimmune autonomic ganglionopathy

• Autoimmune encephalitis

• Autoimmune enteropathy

• Autoimmune hepatitis

• Autoimmune lymphoproliferative syndrome

• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

• 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 café au lait spots

• Autosomal dominant centronuclear myopathy

• 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 leukodystrophy with autonomic disease

• Autosomal dominant neuronal ceroid lipofuscinosis 4B

• Autosomal dominant nocturnal frontal lobe epilepsy

• 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 recessive Alport syndrome

• Autosomal recessive axonal neuropathy with neuromyotonia

• Autosomal recessive centronuclear myopathy

• Autosomal recessive hyper IgE syndrome

• Autosomal recessive juvenile Parkinson disease

• 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

• Axial mesodermal dysplasia spectrum

• Axial spondylometaphyseal dysplasia

• B cell prolymphocytic leukemia

• B-cell lymphoma

• Baby rattle pelvic dysplasia

• Bain type of X-linked syndromic intellectual disability

• Balkan endemic nephropathy

• BAP1 tumor predisposition syndrome

• Baraitser Brett Piesowicz syndrome

• Bare lymphocyte syndrome

• Bare lymphocyte syndrome 2

• Bartter syndrome antenatal type 1

• Bartter syndrome antenatal type 2

• Bartter syndrome type 3

• Bartter syndrome type 4

• Basal cell carcinoma, multiple

• Bazex-Dupre-Christol syndrome

• Becker muscular dystrophy

• Bell's palsy

• Ben Ari Shuper Mimouni syndrome

• Benign autosomal dominant myopathy

• Benign eccrine spiradenoma

• Benign essential blepharospasm

• Benign familial infantile epilepsy

• Benign familial neonatal epilepsy

• 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

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

• Best vitelliform macular dystrophy

• Best1 retinopathy

• Beta-Propeller Protein-Associated Neurodegeneration

• Beta-sarcoglycanopathy

• Bethlem myopathy

• Beukes familial hip dysplasia

• Biemond syndrome type 1

• Bier spots

• Bietti crystalline corneoretinal dystrophy

• Bilateral frontal polymicrogyria

• Bilateral frontoparietal polymicrogyria

• Bilateral generalized polymicrogyria

• Bilateral parasagittal parieto-occipital polymicrogyria

• Bilateral perisylvian polymicrogyria

• Bilateral renal agenesis dominant type

• Biliary atresia intrahepatic non syndromic form

• Biliary atresia intrahepatic syndromic form

• Biliary hypoplasia

• Biotin-thiamine-responsive basal ganglia disease

• Birdshot chorioretinopathy

• Bizzare parosteal osteochondromatous proliferation

• BK-virus nephropathy

• Blastic plasmacytoid dendritic cell

• 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

• Blue diaper syndrome

• Bohring-Opitz syndrome

• Bone dysplasia Azouz type

• Bone dysplasia corpus callosum agenesis

• Bone dysplasia lethal Holmgren type

• Bone dysplasia Moore type

• Boomerang dysplasia

• BOR-Duane hydrocephalus contiguous gene syndrome

• Bothriocephalosis

• Bowenoid papulosis

• Brachycephalofrontonasal dysplasia

• Brachydactylous dwarfism Mseleni type

• Brachydactyly absence of distal phalanges

• Brachydactyly elbow wrist dysplasia

• Brachydactyly long thumb type

• Brachydactyly Mononen type

• Brachydactyly preaxial with hallux varus and thumb abduction

• 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

• Brachymesophalangy type 2

• Brachymetapody anodontia hypotrichosis albinoidism

• Brachyolmia type 3

• Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

• Braddock Jones Superneau syndrome

• Bradyopsia

• Brittle bone syndrome lethal type

• Brody myopathy

• Bronchiectasis oligospermia

• Bronchiolitis obliterans organizing pneumonia

• Bronchopulmonary dysplasia

• Brooke-Spiegler syndrome

• Brunsting-Perry syndrome

• Bubonic plague

• Bullous dystrophy hereditary macular type

• Bullous pemphigoid

• Burkitt lymphoma

• Burn Goodship syndrome

• Burning mouth syndrome type 3

• Bustos Simosa Pinto Cisternas syndrome

• C1q nephropathy

• Cafe au lait spots, multiple

• Calcifying Epithelial Odontogenic Tumor

• Calciphylaxis

• California encephalitis

• Calloso-genital dysplasia

• Calvarial hyperostosis

• Campomelia Cumming type

• Campomelic dysplasia

• 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

• Cap myopathy

• Capillary hemangioblastoma

• Capillary malformation-arteriovenous malformation syndrome

• Carbamoyl phosphate synthetase 1 deficiency

• Carcinoma of unknown primary site, childhood

• Cardiac hydatid cysts with intracavitary expansion

• Cardiac rupture

• Cardiac valvular dysplasia, X-linked

• Cardioencephalomyopathy

• 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

• Carney complex

• Carnitine palmitoyl transferase 1 deficiency

• Carnitine palmitoyltransferase 2 deficiency

• Carnitine palmitoyltransferase I deficiency , muscle

• Carpal deformity micrognathia microstomia

• Carpenter syndrome

• Carpo tarsal osteolysis recessive

• Carpotarsal osteochondromatosis

• Cartilage-hair hypoplasia

• Caspase-8 deficiency

• Catamenial pneumothorax

• Cataract congenital Volkmann type

• Cataract Hutterite type

• Cataract, congenital, with microcornea or slight microphthalmia

• Cataract, posterior polar, 1

• Cataract, posterior polar, 3

• Cataract, posterior polar, 4

• Cataract, posterior polar, 5

• Cataract-microcephaly-failure to thrive-kyphoscoliosis

• Catastrophic antiphospholipid syndrome

• Catecholaminergic polymorphic ventricular tachycardia

• Caudal appendage deafness

• Caudal duplication

• Cavernous lymphangioma

• CDG syndrome type 3

• CDG syndrome type 4

• Celiac artery compression syndrome

• Central centrifugal cicatricial alopecia

• Central congenital hypothyroidism

• Central diabetes insipidus

• Central pain syndrome

• Central serous chorioretinopathy

• Centronuclear myopathy

• Cerebellar ataxia and hypogonadotropic hypogonadism

• Cerebellar ataxia ectodermal dysplasia

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

• Cerebellar hypoplasia

• Cerebellar hypoplasia tapetoretinal degeneration

• Cerebellar hypoplasia with endosteal sclerosis

• Cerebellar liponeurocytoma

• Cerebello-olivary atrophy

• Cerebelloparenchymal disorder 3

• Cerebellum agenesis hydrocephaly

• 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 palsy

• Cerebral palsy ataxic

• Cerebral palsy athetoid

• Cerebral palsy spastic hemiplegic

• Cerebral palsy spastic monoplegic

• Cerebral palsy spastic quadriplegic

• Cerebral sclerosis similar to Pelizaeus-Merzbacher disease

• Cerebro facio thoracic dysplasia

• Cerebrospinal fluid leak

• Ceroid lipofuscinosis neuronal 1

• Cervical hypertrichosis peripheral neuropathy

• Cervical intraepithelial neoplasia

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

• 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

• CHD2 myoclonic encephalopathy

• Chester porphyria

• Chiari malformation type 2

• Chiari malformation type 3

• Chiari malformation type 4

• Childhood acute lymphoblastic leukemia

• Childhood apraxia of speech

• Childhood hepatocellular carcinoma

• Childhood hypophosphatasia

• Childhood-onset cerebral X-linked adrenoleukodystrophy

• Childhood-onset nemaline myopathy

• Childhood-Onset Schizophrenia

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

• Cholestasis, progressive familial intrahepatic 4

• Cholesterol pneumonia

• 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

• CHOPS syndrome

• Choreoacanthocytosis amyotrophic

• Chorioretinopathy dominant form microcephaly

• Choroid plexus carcinoma

• Choroid plexus cyst

• Choroid plexus papilloma

• Choroidal dystrophy central areolar

• Choroideremia hypopituitarism

• 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 duplication

• Chromosome 11p deletion

• Chromosome 11p duplication

• Chromosome 11q duplication

• Chromosome 12p deletion

• Chromosome 12p duplication

• Chromosome 12q duplication

• Chromosome 13q duplication

• Chromosome 14q duplication

• Chromosome 15q duplication

• Chromosome 16, uniparental disomy

• Chromosome 16p deletion

• Chromosome 16p duplication

• Chromosome 16p13.3 deletion syndrome

• Chromosome 16p13.3 duplication

• Chromosome 16q duplication

• Chromosome 17p deletion

• Chromosome 17p duplication

• Chromosome 17p13.1 deletion syndrome

• Chromosome 17q duplication

• Chromosome 18p deletion

• Chromosome 18p duplication

• Chromosome 18p tetrasomy

• Chromosome 18q duplication

• Chromosome 19p deletion

• Chromosome 19p duplication

• Chromosome 19q duplication

• Chromosome 1p deletion

• Chromosome 1p duplication

• Chromosome 1p36 deletion syndrome

• Chromosome 1q21.1 duplication syndrome

• Chromosome 20p deletion

• Chromosome 20p duplication

• Chromosome 20q duplication

• Chromosome 21, uniparental disomy

• Chromosome 21q duplication

• Chromosome 22q duplication

• Chromosome 2p deletion

• Chromosome 2p duplication

• Chromosome 2q duplication

• Chromosome 3p deletion

• Chromosome 3p duplication

• Chromosome 3p- syndrome

• Chromosome 3q duplication

• Chromosome 3q29 microduplication syndrome

• Chromosome 4p deletion

• Chromosome 4p duplication

• Chromosome 4q duplication

• Chromosome 5, uniparental disomy

• Chromosome 5p deletion

• Chromosome 5p duplication

• Chromosome 5q duplication

• Chromosome 6p deletion

• Chromosome 6p duplication

• Chromosome 6q duplication

• Chromosome 7p deletion

• Chromosome 7p duplication

• Chromosome 7q duplication

• Chromosome 8p deletion

• Chromosome 8p duplication

• Chromosome 8p23.1 deletion

• Chromosome 8q duplication

• Chromosome 9p deletion

• Chromosome 9p duplication

• Chromosome 9q duplication

• Chromosome Xp deletion

• Chromosome Xq duplication

• 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 hiccups

• Chronic inflammatory demyelinating polyneuropathy

• Chronic intestinal pseudoobstruction

• Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

• Chronic lymphocytic leukemia

• Chronic myeloproliferative disorders

• Chronic neutrophilic leukemia

• Chronic polyradiculoneuritis

• Chronic progressive external ophthalmoplegia

• Chronic thromboembolic pulmonary hypertension

• Cicatricial pemphigoid

• Ciguatera fish poisoning

• Ciliary dyskinesia, due to transposition of ciliary microtubules

• Circumscribed cutaneous aplasia of the vertex

• Circumscribed disseminated keratosis Jadassohn Lew type

• Citrulline transport defect

• Citrullinemia type I

• Clasped thumbs, congenital

• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

• 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 stapes fixation oligodontia

• Cleft palate X-linked

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

• Cleidocranial dysplasia

• Cleidocranial dysplasia recessive form

• Clostridium perfringens infection

• Clostridium septicum infection

• Coal worker's pneumoconiosis

• Coarse face hypotonia constipation

• COASY Protein-Associated Neurodegeneration

• Cocaine antenatal exposure

• Cochleosaccular degeneration of the inner ear and progressive cataracts

• Cockayne syndrome type I

• Cockayne syndrome type II

• Cockayne syndrome type III

• Cole Carpenter syndrome

• Collagen VI related muscular dystrophy

• Collagenopathy type 2 alpha 1

• Collins Pope syndrome

• Coloboma of macula with type B brachydactyly

• Coloboma of optic nerve

• Coloboma of optic papilla

• Coloboma porencephaly hydronephrosis

• Colonic malakoplakia

• Colpocephaly

• Combined oxidative phosphorylation deficiency

• Combined oxidative phosphorylation deficiency 16

• Combined pituitary hormone deficiencies, genetic forms

• Compartment syndrome

• Complement component 2 deficiency

• Complement component 8 deficiency type 1

• Complement component 8 deficiency type 2

• Complement component deficiency

• Complement component receptor 1

• Complement receptor deficiency

• Complete androgen insensitivity syndrome

• Complete atrioventricular canal

• Complex regional pain syndrome

• Condrodisplasia punctata rizomélica

• 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 adrenal hyperplasia

• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

• Congenital amegakaryocytic thrombocytopenia

• Congenital amputation

• Congenital aplastic anemia

• Congenital benign spinal muscular atrophy dominant

• Congenital bile acid synthesis defect, type 1

• Congenital bile acid synthesis defect, type 2

• Congenital central hypoventilation syndrome

• Congenital craniosynostosis maternal hyperthyroiditis

• Congenital cystic eye multiple ocular and intracranial anomalies

• Congenital diaphragmatic hernia

• Congenital dislocation of the patella

• Congenital disorder of glycosylation type I/IIX

• 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 generalized lipodystrophy type 1

• Congenital generalized lipodystrophy type 2

• Congenital generalized lipodystrophy type 3

• Congenital generalized lipodystrophy type 4

• Congenital heart disease ptosis hypodontia craniostosis

• Congenital hepatic fibrosis

• Congenital herpes simplex

• Congenital hyperinsulinism

• Congenital hypomyelination neuropathy

• Congenital hypothyroidism

• Congenital hypotrichosis milia

• Congenital ichthyosis, microcephalus, quadriplegia

• Congenital insensitivity to pain

• Congenital insensitivity to pain with anhidrosis

• Congenital laryngeal palsy

• Congenital lipoid adrenal hyperplasia

• Congenital lobar emphysema

• Congenital lymphedema

• Congenital mesoblastic nephroma

• Congenital mumps

• Congenital muscular dystrophy

• Congenital muscular dystrophy type 1A

• Congenital myasthenic syndrome associated with acetylcholine receptor deficiency

• Congenital myasthenic syndrome with episodic apnea

• Congenital myotonic dystrophy

• Congenital nephrotic syndrome Finnish type

• Congenital primary aphakia

• Congenital pseudoarthrosis

• Congenital pulmonary alveolar proteinosis

• Congenital pulmonary lymphangiectasia

• Congenital sucrose isomaltose malabsorption

• Congenital unilateral pulmonary hypoplasia

• Congenital vagal hyperreflexivity

• Congenitally corrected transposition of the great arteries

• Conjunctivitis with Pseudomembrane

• Continuous spike-wave during slow sleep syndrome

• Copper deficiency, familial benign

• CoQ-responsive OXPHOS deficiency

• 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

• 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

• Cortical blindness-intellectual disability-polydactyly syndrome

• Cortical defects wormian bones and dentinogenesis imperfecta

• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

• Corticosteroid-sensitive aseptic abscesses

• Cramp-fasciculation syndrome

• Cranio osteoarthropathy

• Craniodiaphyseal dysplasia

• Cranioectodermal dysplasia

• Craniofacial dysostosis arthrogryposis progeroid appearence

• Craniofacial dysostosis with diaphyseal hyperplasia

• Craniofrontonasal dysplasia

• Craniofrontonasal syndrome Teebi type

• Craniometaphyseal dysplasia, autosomal dominant

• Craniometaphyseal dysplasia, autosomal recessive type

• Craniopharyngioma

• Craniosynostosis alopecia brain defect

• Craniosynostosis arthrogryposis cleft palate

• Craniosynostosis cleft lip palate arthrogryposis

• Craniosynostosis exostoses nevus epibulbar dermoid

• Craniosynostosis Fontaine type

• Craniosynostosis Maroteaux Fonfria type

• Craniosynostosis Philadelphia type

• Craniosynostosis, anal anomalies, and porokeratosis

• Craniotelencephalic dysplasia

• Creeping myiasis

• Crigler Najjar syndrome, type 1

• Crigler Najjar syndrome, type 2

• Crisponi syndrome

• Crohn's disease of the esophagus

• Crossed polydactyly type 1

• Crossed polysyndactyly

• Crumpled helices and small mouth

• Cryopyrin-associated periodic syndrome

• Cryptococcosis

• Cryptogenic organizing pneumonia

• Cryptomicrotia brachydactyly syndrome

• Cryptophthalmos

• Cryptosporidiosis

• Cutaneous lupus erythematosus

• Cutaneous photosensitivity and colitis, lethal

• Cutaneous polyarteritis nodosa

• Cutaneous T-cell lymphoma

• Cutaneous-skeletal hypophosphatemia syndrome

• Cutaneus colagenous vasculopathy

• Cutis laxa osteoporosis

• Cutis laxa, autosomal recessive type 1

• Cutis laxa, autosomal recessive type 2A

• Cutis laxa, autosomal recessive type 2B

• Cyclic neutropenia

• Cyclic thrombocytopenia

• Cyclosporiasis

• Cylindrical spirals myopathy

• Cyprus facial neuromusculoskeletal syndrome

• Cystic hygroma lethal cleft palate

• Cystinosis, ocular nonnephropathic

• Cytokine receptor deficiency

• Cytoplasmic body myopathy

• Czech dysplasia metatarsal type

• D-bifunctional protein deficiency

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

• Dandy-Walker complex

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

• Dandy-Walker like malformation with atrioventricular septal defect

• Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia

• Dandy-Walker malformation with postaxial polydactyly

• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus

• Dauwerse-Peters syndrome

• Davenport Donlan syndrome

• Deafness and myopia syndrome

• Deafness conductive ptosis skeletal anomalies

• Deafness conductive stapedial ear malformation facial palsy

• Deafness enamel hypoplasia nail defects

• 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 peripheral neuropathy arterial disease

• Deafness progressive cataract autosomal dominant

• Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

• Deafness, dystonia, and cerebral hypomyelination

• Deafness, epiphyseal dysplasia, short stature

• Deafness-lymphedema-leukemia syndrome

• Defective apolipoprotein B-100

• Deficiency of interleukin-1 receptor antagonist

• Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema

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

• Delta-sarcoglycanopathy

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

• Dens in dente and palatal invaginations

• Dense deposit disease

• Dentatorubral-pallidoluysian atrophy

• Dentin dysplasia sclerotic bones

• Dentin dysplasia, coronal

• Dentin dysplasia, type 1

• Dentinogenesis imperfecta

• Dentinogenesis imperfecta type 2

• Dentinogenesis imperfecta type 3

• DEPDC5-Related Epilepsy

• Depersonalization disorder

• Dermatitis herpetiformis

• Dermatocardioskeletal syndrome Boronne type

• Dermatofibrosarcoma protuberans

• Dermatoleukodystrophy

• Dermatoosteolysis Kirghizian type

• Dermatopathia pigmentosa reticularis

• Dermatosparaxis Ehlers-Danlos syndrome

• Dermochondrocorneal dystrophy of François

• Dermoodontodysplasia

• Desmoplastic infantile astrocytoma

• Desmoplastic infantile ganglioglioma

• Desmoplastic small round cell tumor

• Developmental dysphasia familial

• Developmental prosopagnosia

• Dextrocardia with unusual facies and microphthalmia

• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification

• Diabetes persistent mullerian ducts

• Diabetic mastopathy

• 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

• DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

• Diencephalic syndrome

• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

• Diffuse intrinsic pontine glioma

• Diffuse Large B-Cell Lymphoma

• Diffuse palmoplantar keratoderma, Bothnian type

• Diffuse panbronchiolitis

• Dihydrolipoamide dehydrogenase deficiency

• Dihydropteridine reductase deficiency

• Dihydropyrimidinase deficiency

• Dihydropyrimidine dehydrogenase deficiency

• Dilated cardiomyopathy

• Dilated cardiomyopathy with hypergonadotropic hypogonadism

• Diomedi Bernardi Placidi syndrome

• Diphallia

• Diphallus rachischisis imperforate anus

• Diphosphoglycerate mutase deficiency of erythrocyte

• Diphtheria

• Diploid-triploid mosaicism

• Diprosopia

• Dipsogenic diabetes insipidus

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

• Disorders with deficiency of a single peroxisomal enzyme

• Dissecting cellulitis of the scalp

• Disseminated infection with mycobacterium avium complex

• Disseminated peritoneal leiomyomatosis

• Disseminated superficial actinic porokeratosis

• Distal arthrogryposis

• Distal arthrogryposis type 1

• Distal arthrogryposis type 5

• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies

• Distal myopathy with vocal cord weakness

• Distal primary acidosis, familial

• DK phocomelia syndrome

• Dominant cleft palate

• Dominant dystrophic epidermolysis bullosa

• Dominant optic atrophy

• Dopa-responsive dystonia

• Dopa-responsive dystonia; Segawa syndrome AD

• Dopamine beta hydroxylase deficiency

• Doxorubicin induced cardiomyopathy

• Doyne honeycomb retinal dystrophy

• DPAGT1-CDG (CDG-Ij)

• DPM1-CDG (CDG-Ie)

• DPM2-CDG

• DPM3-CDG (CDG-Io)

• Duane syndrome type 1

• Duane syndrome type 2

• Duane syndrome type 3

• Duchenne muscular dystrophy

• 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 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

• Dykes Markes Harper syndrome

• Dyschondrosteosis nephritis

• Dysembryoplastic neuroepithelial tumor

• Dysferlinopathy

• Dysgnathia complex

• Dysmorphism cleft palate loose skin

• Dysostosis peripheral

• Dysplasia epiphysealis hemimelica

• Dysplastic cortical hyperostosis

• Dyssegmental dysplasia and glaucoma

• Dyssegmental dysplasia Rolland-Desbuquois type

• Dyssegmental dysplasia Silverman-Handmaker type

• Dystelephalangy

• Dystrophic epidermolysis bullosa

• Dystrophinopathy

• 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 myopathy, areflexia, respiratory distress and dysphagia

• Early-onset parkinsonism-intellectual disability syndrome

• Eastern equine encephalitis

• Eccentrochondrodysplasia

• Eccrine porocarcinoma

• Eclampsia

• 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

• Ectopia pupillae

• Ectopic pregnancy

• Ectrodactyly cardiopathy dysmorphism

• Ectrodactyly polydactyly

• Ectropion inferior cleft lip and or palate

• Egg shaped pupils

• Ehlers-Danlos syndrome, dysfibronectinemic type

• Elastosis perforans serpiginosa

• Elizabethkingia anophelis infection

• 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

• Encephalocele

• Encephalocele anencephaly

• Encephalocraniocutaneous lipomatosis

• Encephalomyopathy

• Encephalopathy recurrent of childhood

• Endemic Kaposi sarcoma

• Endolymphatic sac tumor

• Enteropathica

• Enteropathy-associated T-cell lymphoma

• Enthesitis-related juvenile idiopathic arthritis

• Envenomization by bothrops lanceolatus

• Eosinophil peroxidase deficiency

• Eosinophilia-myalgia syndrome

• Eosinophilic cryptitis

• Eosinophilic cystitis

• Eosinophilic enteropathy

• Eosinophilic fasciitis

• Eosinophilic granulomatosis with polyangiitis

• Eosinophilic mastitis

• Eosinophilic pustular folliculitis

• Ependymoma

• 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 juvenile absence

• Epilepsy mental deterioration Finnish type

• Epilepsy occipital calcifications

• Epilepsy progressive myoclonic type 3

• Epilepsy telangiectasia

• Epilepsy, benign occipital

• Epilepsy, partial, familial

• Epimetaphyseal dysplasia cataract

• Epimetaphyseal skeletal dysplasia

• Epiphyseal dysplasia dysmorphism camptodactyly

• Epiphyseal dysplasia hearing loss dysmorphism

• Epiphyseal dysplasia multiple with early-onset diabetes mellitus

• Episodic angioedema with eosinophilia

• Episodic ataxia

• Episodic ataxia with nystagmus

• Epithelial basement membrane corneal dystrophy

• Epithelial-myoepithelial carcinoma

• Epithelioid sarcoma

• Ermine phenotype

• Erosive pustular dermatosis of the scalp

• Erysipelas

• Erythema nodosum, idiopathic

• Erythrokeratodermia variabilis et progressiva

• Erythroplakia

• Erythropoietic protoporphyria

• Erythropoietic uroporphyria associated with myeloid malignancy

• Escobar syndrome, type B

• Esophageal atresia

• Esophageal atresia coloboma talipes

• Esophageal cancer

• Esophageal cancer, childhood

• Esophageal varices

• Esotropia

• Ethylmalonic encephalopathy

• Eunuchoidism familial hypogonadotropic

• Exencephaly

• Exercise-induced anaphylaxis

• Exercise-induced hyperinsulinemic hypoglycemia

• Exogenous lipoid pneumonia

• Exostoses anetodermia brachydactyly type E

• Exostoses, multiple, type 1

• Exostoses, multiple, type 2

• Exostoses, multiple, type 3

• Exstrophy of the bladder

• Exstrophy-epispadias complex

• Extramammary Paget disease

• Extranodal nasal NK/T cell lymphoma

• Extrasystoles short stature hyperpigmentation microcephaly

• Eyebrows duplication of, with stretchable skin and syndactyly

• Facial asymmetry temporal seizures

• Facial clefting corpus callosum agenesis

• Facial ectodermal dysplasia

• Facial onset sensory and motor neuronopathy

• Facio skeletal genital syndrome Rippberger type

• Faciocardiomelic dysplasia lethal

• Facioscapulohumeral muscular dystrophy

• Fallopian tube cancer

• Fallot complex with severe mental and growth retardation

• Familial adenomatous polyposis

• Familial amyloidosis, Finnish type

• Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension

• Familial band heterotopia

• Familial capillaro-venous leptomeningeal angiomatosis

• Familial congenital palsy of trochlear nerve

• Familial dermographism

• Familial dilated cardiomyopathy

• Familial encephalopathy with neuroserpin inclusion bodies

• Familial eosinophilia

• Familial episodic pain syndrome

• Familial exudative vitreoretinopathy

• Familial focal epilepsy with variable foci

• 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 isolated hyperparathyroidism

• Familial isolated pituitary adenoma

• Familial juvenile hyperuricaemic nephropathy

• Familial lipoprotein lipase deficiency

• Familial multiple lipomatosis

• Familial multiple trichodiscomas

• Familial neurocardiogenic syncope

• 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 visceral myopathy with external ophthalmoplegia

• Fara Chlupackova syndrome

• Fatal infantile encephalomyopathy

• Faulk Epstein Jones syndrome

• Faye-Petersen-Ward-Carey syndrome

• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

• Febrile infection-related epilepsy syndrome

• Fetal aminopterin syndrome

• Fetal and neonatal alloimmune thrombocytopenia

• Fetal brain disruption sequence

• Fetal parainfluenza virus type 3 syndrome

• Fetal parvovirus syndrome

• Fetal phenothiazine syndrome

• Fetal valproate syndrome

• Fibrillary glomerulonephritis

• Fibro-adipose vascular anomaly

• Fibrodysplasia ossificans progressiva

• Fibromatosis multiple non ossifying

• 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

• Fingerprint body myopathy

• Florid cemento-osseous dysplasia

• Florid cystic endosalpingiosis of the uterus

• Florid papillomatosis of the nipple

• FMR1-related primary ovarian insufficiency

• Focal alopecia congenital megalencephaly

• Focal cortical dysplasia of Taylor

• Focal dermal hypoplasia

• Focal facial dermal dysplasia

• Focal palmoplantar and gingival keratoderma

• Follicular lymphoma

• Follicular lymphoreticuloma

• Formaldehyde poisoning

• Fragile X syndrome type 1

• Fragile X syndrome type 2

• Fragile X syndrome type 3

• 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

• Fructose-1,6-bisphosphatase deficiency

• Fucosidosis type 1

• Fukuyama type muscular dystrophy

• Functioning pancreatic endocrine tumor

• Fundus dystrophy, pseudoinflammatory, of Sorsby

• Galactorrhoea-Hyperprolactinaemia

• Galactose epimerase deficiency

• Game Friedman Paradice syndrome

• GAPO syndrome

• Garret Tripp syndrome

• Gastric duplication cysts

• Gastric lymphoma

• Gastro-enteropancreatic neuroendocrine tumor

• GATAD2B-associated neurodevelopmental disorder

• Gaucher disease perinatal lethal

• Gaucher disease type 1

• Gaucher disease type 2

• Gaucher disease type 3

• Gaucher ichthyosis restrictive dermopathy

• Geleophysic dwarfism

• Generalized peeling skin syndrome

• Generalized pustular psoriasis

• Genetic reflex epilepsy

• Genital dwarfism, Turner type

• Genito palato cardiac syndrome

• Genitopatellar syndrome

• Genuine diffuse phlebectasia

• Geroderma osteodysplastica

• Gestational diabetes insipidus

• Gestational trophoblastic tumor

• Ghosal hematodiaphyseal dysplasia syndrome

• Giant axonal neuropathy

• Giant ganglionic hyperplasia

• Giant papillary conjunctivitis

• Giant platelet syndrome

• Gillespie syndrome

• Gingival fibromatosis with hypertrichosis

• Glass-Chapman-Hockley syndrome

• Glaucoma 3 primary infantile B

• Glaucoma sleep apnea

• Glaucoma type 1C

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

• Glaucoma, hereditary adult type 1A

• Glaucoma, hereditary juvenile type 1B

• Glaucoma, primary infantile type 3A

• Gliomatosis peritonei

• Globozoospermia

• Glomerulonephritis

• Glomerulonephritis with sparse hair and telangiectases

• Glomerulopathy with fibronectin deposits 1

• Glomerulopathy with fibronectin deposits 2

• Glomus tympanicum tumor

• Glossopalatine ankylosis micrognathia ear anomalies

• Glossopharyngeal neuralgia

• Glucose transporter type 1 deficiency syndrome

• Glucose-6-phosphate dehydrogenase deficiency

• Glucose-6-phosphate translocase deficiency

• Glucose-galactose malabsorption

• Glucosephosphate isomerase deficiency

• Glucosidase acid-1,4-alpha deficiency

• Glutaric acidemia type I

• Glutaric acidemia type II

• Glutaric acidemia type III

• Glyceraldehyde-3-phosphate dehydrogenase deficiency

• Glycine encephalopathy

• 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

• GM1 gangliosidosis type 1

• GM1 gangliosidosis type 2

• GM1 gangliosidosis type 3

• GMPPA-CDG

• GNAO1 encephalopathy

• Goldberg-Shprintzen megacolon syndrome

• Gollop Coates syndrome

• Gomez Lopez Hernandez syndrome

• Gonadal dysgenesis Turner type

• Gonadal dysgenesis XY type associated anomalies

• Goodpasture syndrome

• GOSR2-related progressive myoclonus ataxia

• Gouty nephropathy, familial

• Gracile bone dysplasia

• Graham-Little-Piccardi-Lassueur syndrome

• Granulocytopenia

• Granulomatosis with polyangiitis

• Granulomatous Amebic Encephalitis

• Granulomatous hypophysitis

• Graphite Pneumoconiosis

• Gray platelet syndrome

• Gray zone lymphoma

• Greenberg dysplasia

• Greig cephalopolysyndactyly syndrome

• Griscelli syndrome type 1

• Griscelli syndrome type 2

• Griscelli syndrome type 3

• Grix Blankenship Peterson syndrome

• Groenouw type I corneal dystrophy

• Group B strep disease in newborns

• Growth retardation alopecia pseudoanodontia optic

• Growth retardation hydrocephaly lung hypoplasia

• GTP cyclohydrolase I deficiency

• Gupta Patton syndrome

• Guttate psoriasis

• Gyrate atrophy of choroid and retina

• Haemophilus influenzae

• Hair defect-photosensitivity-intellectual disability syndrome

• Hairy nose tip

• Hairy palms and soles

• Hantavirus pulmonary syndrome

• Hard skin syndrome Parana type

• Hartnup disease

• Hashimoto's encephalitis

• Hashimoto-Pritzker syndrome

• Heart defect, tongue hamartoma and polysyndactyly

• Heart-hand syndrome, Slovenian type

• Heart-hand syndrome, Spanish type

• Heavy metal poisoning

• HELLP syndrome

• Hemangioma thrombocytopenia syndrome

• Hemangiomatosis, familial pulmonary capillary

• Hemangiopericytoma

• Hemeralopia, congenital essential

• Hemeralopia, familial

• Hemifacial atrophy agenesis of the caudate nucleus

• Hemifacial hyperplasia strabismus

• Hemifacial myohyperplasia

• Hemihypertrophy

• Hemimegalencephaly

• Hemiplegia

• Hemiplegic migraine

• Hemochromatosis type 2

• Hemochromatosis type 3

• Hemochromatosis type 4

• Hemochromatosis type 5

• Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities

• Hemolytic uremic syndrome, atypical, childhood

• Hemophagocytic lymphohistiocytosis

• Hemophagocytic lymphohistiocytosis, familial, 2

• Hemophagocytic lymphohistiocytosis, familial, 3

• Hemophagocytic lymphohistiocytosis, familial, 4

• Hemophagocytic reticulosis

• Hemophilia

• Hemophilia A

• Hemophilia B

• Hemophilic arthropathy

• Hemorrhagic proctocolitis

• Hemorrhagic shock and encephalopathy syndrome

• Henoch-Schonlein purpura

• Hepadnavirus infection

• Heparane sulfamidase deficiency

• Heparin-induced thrombocytopenia

• Hepatic cystic hamartoma

• Hepatic encephalopathy

• Hepatic lipase deficiency

• Hepatic veno-occlusive disease

• Hepatic venoocclusive disease with immunodeficiency

• Hepatitis E

• Hepatoblastoma

• Hepatoerythropoietic porphyria

• Hepatopulmonary syndrome

• Hepatorenal syndrome

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

• Hereditary antithrombin deficiency type 2

• Hereditary antithrombin deficiency type I

• Hereditary congenital facial paresis

• Hereditary coproporphyria

• 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 geniospasm

• Hereditary hemorrhagic telangiectasia type 2

• Hereditary hemorrhagic telangiectasia type 3

• Hereditary hemorrhagic telangiectasia type 4

• Hereditary hyperekplexia

• Hereditary hyperuricemia

• Hereditary lymphedema type II

• 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 pancreatitis

• Hereditary paraganglioma-pheochromocytoma

• Hereditary peripheral nervous disorder

• 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

• 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

• Hersh Podruch Weisskopk syndrome

• HHV-6 encephalitis

• Hip luxation

• Hip subluxation

• 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

• Histiocytosis-lymphadenopathy plus syndrome

• HIVEP2-related intellectual disability

• Hodgkin disease, X-linked pseudoautosomal

• Hodgkin lymphoma

• Hodgkin lymphoma, childhood

• Hodgkin lymphoma, during pregnancy

• Holoacardius amorphus

• Holoprosencephaly

• Holoprosencephaly caudal dysgenesis

• Holoprosencephaly ectrodactyly cleft lip palate

• Holoprosencephaly, recurrent infections, and monocytosis

• Horizontal gaze palsy with progressive scoliosis

• Houlston Ironton Temple syndrome

• HTLV-1 associated myelopathy/tropical spastic paraparesis

• Human spumaretrovirus infection

• Human T-cell leukemia virus type 1

• Human T-cell leukemia virus type 2

• Human T-cell leukemia virus type 3

• Hunter Carpenter Macdonald syndrome

• Hunter Macpherson syndrome

• Hunter-McAlpine syndrome

• Hutterite cerebroosteonephrodysplasia syndrome

• Hydranencephaly

• 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

• Hydronephrosis peculiar facial expression

• Hydrops ectrodactyly syndactyly

• Hydrops fetalis

• Hydrops fetalis anemia immune disorder absent thumb

• Hydroxyprolinemia

• Hymenolepiasis

• 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

• Hypnic headache

• Hypoadrenalism

• Hypoaldosteronism

• Hypocalcemia, autosomal dominant

• Hypochondroplasia

• Hypochromic microcytic anemia with iron overload

• Hypocomplementemic urticarial vasculitis

• Hypodermyasis

• Hypodontia of incisors and premolars

• Hypodontia, X-linked

• Hypofibrinogenemia, familial

• Hypoganglionosis

• 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

• Hypoketonemic hypoglycemia

• Hypolipoproteinemia

• Hypomandibular faciocranial dysostosis

• Hypomelanosis of Ito

• 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

• Hypophosphatasia

• Hypophosphatemic rickets

• Hypopituitarism

• Hypoplasia hepatic ductular

• Hypoplasia of the tibia with polydactyly

• Hypoplastic left heart syndrome

• Hypoplastic right heart syndrome

• Hypoplastic thumb mullerian aplasia

• Hypoplastic thumbs hydranencephaly

• Hyporeninemic hypoaldosteronism

• Hyposmia nasal hypoplasia hypogonadism

• Hypospadias familial

• Hypospadias-intellectual disability, Goldblatt type syndrome

• Hypotelorism cleft palate hypospadias

• Hypothalamic dysfunction

• 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

• Ichthyosis alopecia eclabion ectropion mental retardation

• Ichthyosis follicularis atrichia photophobia syndrome

• Ichthyosis hystrix, Curth Macklin type

• Ichthyosis prematurity syndrome

• Ichthyosis tapered fingers midline groove up

• Ichthyosis with hypotrichosis, autosomal recessive

• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

• Ichthyosis, mental retardation, dwarfism and renal impairment

• Idiopathic achalasia

• Idiopathic acute eosinophilic pneumonia

• Idiopathic alveolar hypoventilation syndrome

• Idiopathic basal ganglia calcification childhood-onset

• Idiopathic CD4 positive T-lymphocytopenia

• Idiopathic dilatation of the pulmonary artery

• Idiopathic double athetosis

• 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

• Immotile cilia syndrome, due to defective radial spokes

• 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

• Inclusion body myopathy 2

• Inclusion body myopathy 3

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

• Incontinentia pigmenti

• Indolent B cell lymphoma

• Infant epilepsy with migrant focal crisis

• Infantile apnea

• Infantile axonal neuropathy

• Infantile convulsions and paroxysmal choreoathetosis, familial

• Infantile histiocytoid cardiomyopathy

• Infantile neuroaxonal dystrophy

• Infantile onset spinocerebellar ataxia

• Infantile Parkinsonism-dystonia

• Infantile spasms broad thumbs

• Infantile-onset ascending hereditary spastic paralysis

• Infection-induced acute encephalopathy 3

• Inflammatory linear verrucous epidermal nevus

• Infundibulopelvic dysgenesis

• Inherited hypoprothrombinemia

• Iniencephaly

• 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

• Interferon gamma, receptor 1, deficiency

• Intermediate congenital nemaline myopathy

• Intestinal atresia multiple

• Intestinal lymphangiectasia

• Intestinal pseudo-obstruction

• Intestinal pseudoobstruction neuronal chronic idiopathic X-linked

• Intracranial aneurysms multiple congenital anomaly

• Intrahepatic cholangiocarcinoma

• Intrahepatic cholestasis of pregnancy

• Intraneural perineurioma

• Intrauterine growth retardation - mandibular malar hypoplasia

• Intravascular papillary endothelial hyperplasia

• Iodine antenatal exposure

• Iridogoniodysgenesis type 1

• Iridogoniodysgenesis type 2

• Iris hypoplasia and glaucoma

• Ischiadic hypoplasia renal dysfunction immunodeficiency

• Isochromosome Yp

• Isolated anterior cervical hypertrichosis

• Isolated ectopia lentis

• Isolated growth hormone deficiency type 1A

• Isolated growth hormone deficiency type 1B

• Isolated growth hormone deficiency type 2

• Isolated growth hormone deficiency type 3

• Isosporiasis

• Isotretinoin embryopathy like syndrome

• Jackhammer esophagus

• Jansen type metaphyseal chondrodysplasia

• Japanese encephalitis

• Jejunal atresia with renal adysplasia

• JMP syndrome

• Jumping Frenchmen of Maine

• Junctional epidermolysis bullosa

• Juvenile amyotrophic lateral sclerosis

• Juvenile macular degeneration and hypotrichosis

• Juvenile myoclonic epilepsy

• Juvenile osteoporosis

• Juvenile Paget disease

• Juvenile polymyositis

• Juvenile polyposis syndrome

• Juvenile primary lateral sclerosis

• Juvenile spondyloarthropathy

• Juvenile temporal arteritis

• Juvenile-onset small-fiber polyneuropathy

• Kallikrein hypertension

• Kaolin pneumoconiosis

• Kaplan Plauchu Fitch syndrome

• Kaposi sarcoma

• Kaposiform Hemangioendothelioma

• Kapur Toriello syndrome

• Karyomegalic interstitial nephritis

• Kasznica Carlson Coppedge syndrome

• Katsantoni Papadakou Lagoyanni syndrome

• Kenny-Caffey syndrome type 1

• Kenny-Caffey syndrome type 2

• Keratoconus posticus circumscriptus

• Keratoderma palmoplantar deafness

• Keratoderma palmoplantar spastic paralysis

• Keratoderma palmoplantaris transgrediens

• Keratosis follicularis dwarfism and cerebral atrophy

• Keratosis follicularis spinulosa decalvans

• Keratosis palmoplantaris adenocarcinoma of the colon

• Keratosis palmoplantaris striata 1

• Keratosis palmoplantaris striata 3

• Klippel Feil syndrome

• Klippel-Trenaunay syndrome

• Klumpke paralysis

• Kniest dysplasia

• Kniest like dysplasia lethal

• Kniest-like dysplasia with pursed lips and ectopia lentis

• Knuckle pads, leuconychia and sensorineural deafness

• Krabbe disease atypical due to Saposin A deficiency

• Kyphomelic dysplasia

• Kyphoscoliotic Ehlers-Danlos syndrome

• La Crosse encephalitis

• Lactate dehydrogenase deficiency type C

• Lagophthalmia cleft lip palate

• Laing distal myopathy

• Langer mesomelic dysplasia

• Large granular lymphocyte leukemia

• Laryngeal papillomatosis

• Larynx, congenital partial atresia of

• Late-onset distal myopathy, Markesbery-Griggs type

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

• Lattice corneal dystrophy type 1

• Lattice corneal dystrophy type 3A

• Laurence Prosser Rocker syndrome

• Le Marec Bracq Picaud syndrome

• Leber hereditary optic neuropathy

• Leber hereditary optic neuropathy with dystonia

• Left ventricular noncompaction

• Legg-Calve-Perthes disease

• Leigh syndrome, French Canadian type

• Leiomyoma of vulva and esophagus

• Leiomyomatosis of esophagus, cataract and hematuria

• Leiomyomatosis, esophageal and vulval, with nephropathy

• Lenz Majewski hyperostotic dwarfism

• Lenz microphthalmia syndrome

• LEOPARD syndrome

• Leprechaunism

• Leptospirosis

• Leri pleonosteosis

• Lethal chondrodysplasia Moerman type

• Lethal chondrodysplasia Seller type

• Lethal short limb skeletal dysplasia Al Gazali type

• Leucine-sensitive hypoglycemia of infancy

• Leukocyte adhesion deficiency type 1

• 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

• Leukoplakia

• Levotransposition of the great arteries

• Leydig cell hypoplasia

• Lichen planopilaris

• Lichen planus pemphigoides

• Lichen planus pigmentosus

• Light chain deposition disease

• Limb-body wall complex

• 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

• Limbic encephalitis

• Limbic encephalitis with LGI1 antibodies

• Linear and whorled nevoid hypermelanosis

• Linear lichen planus

• Linear porokeratosis

• Lip and oral cavity cancer

• Lipase deficiency combined

• Lipedematous Scalp

• Lipidosis with triglycerid storage disease

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

• Lipoblastoma

• Lipodermatosclerosis

• Lipogranulomatosis

• Lipoic acid biosynthesis defects

• Lipoic acid synthetase deficiency

• Lipoid proteinosis of Urbach and Wiethe

• Lipomyelomeningocele

• Liposarcoma

• Lissencephaly

• Lissencephaly 1

• Lissencephaly 2

• Lissencephaly X-linked

• Littoral cell angioma of the spleen

• Livedoid vasculopathy

• Localized hypertrophic neuropathy

• Localized lipodystrophy

• 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

• Lopes Gorlin syndrome

• Lupus erythematosus tumidus

• Lupus nephritis

• Lymph Node Neoplasm

• Lymphangiectasis

• Lymphangioleiomyomatosis

• Lymphangiomatosis

• Lymphatic filariasis

• Lymphatic malformations

• Lymphedema and cerebral arteriovenous anomaly

• Lymphedema, microcephaly and chorioretinopathy syndrome

• Lymphedema-distichiasis syndrome

• Lymphoblastic lymphoma

• Lymphocytes absent

• Lymphocytic hypophysitis

• Lymphocytic infiltrate of Jessner

• Lymphocytic vasculitis

• Lymphogranuloma venereum

• Lymphoma AIDS related

• Lymphoma, gastric non Hodgkins type

• Lymphoma, large-cell

• Lymphoma, large-cell, immunoblastic

• Lymphomatoid granulomatosis

• Lymphomatoid papulosis

• Lymphomatous thyroiditis

• Lymphosarcoma

• Lysinuric protein intolerance

• Lysosomal acid lipase deficiency

• Macrocephaly mesodermal hamartoma spectrum

• Macrocephaly, benign familial

• Macrocephaly-short stature-paraplegia syndrome

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

• 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

• Malakoplakia

• 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 eccrine spiradenoma

• 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 peripheral nerve sheath tumor

• Mandibuloacral dysplasia

• Mandibuloacral dysplasia with type A lipodystrophy

• Mandibuloacral dysplasia with type B lipodystrophy

• Mandibulofacial dysostosis with microcephaly

• Mantle cell lymphoma

• Maple syrup urine disease

• Maple syrup urine disease type 1A

• Maple syrup urine disease type 1B

• Maple syrup urine disease type 2

• Marcus Gunn phenomenon

• Marfanoid hypermobility syndrome

• Marginal glioneuronal heterotopia

• Marginal zone lymphoma

• Marie Unna congenital hypotrichosis

• Marphanoid syndrome type De Silva

• Martinez Monasterio Pinheiro syndrome

• Maternal hyperphenylalaninemia

• Maxillary double lip

• Maxillonasal dysplasia, Binder type

• McPherson Clemens syndrome

• McPherson Robertson Cammarano syndrome

• MDP syndrome

• Meckel syndrome type 2

• Meckel syndrome type 3

• Meconium aspiration syndrome

• MECP2 duplication syndrome

• MED13L haploinsufficiency syndrome

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

• Median nodule of the upper lip

• Medullary sponge kidney

• Meesmann corneal dystrophy

• Megacystis microcolon intestinal hypoperistalsis syndrome

• Megaepiphyseal dwarfism

• Megalencephalic leukoencephalopathy with subcortical cysts

• Megalencephaly-capillary malformation syndrome

• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

• Megalocornea - spherophakia - secondary glaucoma

• Megalocytic interstitial nephritis

• Mehta Lewis Patton syndrome

• Melanoma-associated retinopathy

• Melorheostosis with osteopoikilosis

• Membranoproliferative glomerulonephritis

• Membranous nephropathy

• Mendelian susceptibility to mycobacterial diseases

• Meningoencephalocele

• Mental retardation macrocephaly coarse facies hypotonia

• Mental retardation short stature microcephaly eye

• Mental retardation skeletal dysplasia abducens palsy

• Mental retardation Smith Fineman Myers type

• Meralgia paresthetica

• Mercury poisoning

• Mesangial proliferative glomerulonephritis

• Mesangioproliferative glomerulopathy

• Mesomelic dwarfism cleft palate camptodactyly

• Mesomelic dwarfism of hypoplastic tibia and radius type

• Mesomelic dysplasia Kantaputra type

• Mesomelic dysplasia Savarirayan type

• Mesomelic dysplasia skin dimples

• Metacarpals 4 and 5 fusion

• Metachromatic leukodystrophy

• Metachromatic leukodystrophy due to saposin B deficiency

• Metaphyseal acroscyphodysplasia

• Metaphyseal anadysplasia

• 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

• Methemoglobinemia, beta-globin type

• Methimazole antenatal exposure

• Methylcobalamin deficiency cbl G type

• Methylcobalamin deficiency, cbl E complementation type

• Methylmalonic acidemia and homocysteinemia type cblX

• 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

• 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

• Microcystic lymphatic malformation

• Microdontia hypodontia short stature

• Microduplication Xp11.22-p11.23 syndrome

• Microencephaly

• 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

• Microspherophakia with hernia

• Microsporidiosis

• Microtia eye coloboma and imperforation of the nasolacrimal duct

• Midline cleft of lower lip

• Midphalangeal hair

• Mild phenylketonuria

• Minicore myopathy with external ophthalmoplegia

• Minicore myopathy, antenatal onset, with arthrogryposis

• Mirror polydactyly segmentation and limbs defects

• Misophonia

• 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 encephalomyopathy lactic acidosis and stroke-like episodes

• Mitochondrial Membrane Protein-Associated Neurodegeneration

• Mitochondrial myopathy with diabetes

• Mitochondrial myopathy with lactic acidosis

• Mitochondrial neurogastrointestinal encephalopathy syndrome

• Mitochondrial trifunctional protein deficiency

• Mitral valve prolapse, familial, autosomal dominant

• Mitral valve prolapse, familial, X-linked

• Miyoshi myopathy

• Moebius axonal neuropathy hypogonadism

• Mondini dysplasia

• Monkeypox

• Monoclonal gammopathy of undetermined significance

• Monomelic amyotrophy

• Mononeuritis multiplex

• Morphea

• Mosaic variegated aneuploidy syndrome

• Motor neuro-ophthalmic disorders

• Motor sensory neuropathy type 1 aplasia cutis congenita

• MPDU1-CDG (CDG-If)

• MPI-CDG (CDG-Ib)

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

• Mucoepidermoid carcinoma

• Mucolipidosis III alpha/beta

• Mucolipidosis type 4

• 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

• Mullerian aplasia

• Multicentric carpotarsal osteolysis syndrome

• Multicentric osteolysis nephropathy

• Multicystic renal dysplasia, bilateral

• 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 epiphyseal dysplasia

• Multiple epiphyseal dysplasia 1

• Multiple epiphyseal dysplasia 2

• Multiple epiphyseal dysplasia 3

• Multiple epiphyseal dysplasia 4

• Multiple epiphyseal dysplasia 5

• Multiple epiphyseal dysplasia 6

• Multiple familial trichoepithelioma

• Multiple fibrofolliculoma familial

• Multiple joint dislocations metaphyseal dysplasia

• Multiple mitochondrial dysfunctions syndrome

• Multiple myeloma

• Multiple pterygium syndrome Escobar type

• Multiple pterygium syndrome lethal type

• Multiple pterygium syndrome X-linked

• Multiple respiratory chain enzyme deficiencies

• Multiple self healing squamous epithelioma

• Multiple sulfatase deficiency

• Multiple symmetric lipomatosis

• Multiple synostoses syndrome 1

• Multiple synostoses syndrome 2

• Multiple system atrophy

• Mumps

• Munchausen by proxy syndrome

• 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 phosphorylase kinase deficiency

• Mycobacterium Avium Complex

• Mycobacterium tuberculosis, susceptibility to infection by

• Mycobacterium Xenopi

• Mycoplasmal pneumonia

• Myelodysplastic syndromes

• Myelodysplastic/myeloproliferative disease

• Myeloid splenomegaly

• Myeloperoxidase deficiency

• MYH-associated polyposis

• MYH7-related scapuloperoneal myopathy

• MYH9 related thrombocytopenia

• Myoclonic astatic epilepsy

• Myoclonic epilepsy with ragged red fibers

• Myoclonus epilepsy

• Myoclonus epilepsy partial seizure

• Myoclonus hereditary progressive distal muscular atrophy

• Myoepithelial carcinoma

• Myofibrillar myopathy

• Myokymia with neonatal epilepsy

• Myopathic carnitine deficiency

• Myopathy congenital

• Myopathy mitochondrial cataract

• Myopathy with extrapyramidal signs

• Myopathy, limb-girdle, with bone fragility

• Myopia 6

• Myosin storage myopathy

• Myostatin-related muscle hypertrophy

• Myotonia atrophica

• Myotonic dystrophy

• Myotonic dystrophy type 1

• Myotonic dystrophy type 2

• Myxoid liposarcoma

• Myxopapillary ependymoma

• N-acetyl-alpha-D-galactosaminidase deficiency type III

• Nail dysplasia, isolated congenital

• Nail-patella syndrome

• Narcolepsy

• Narrow oral fissure short stature cone shaped epiphyses

• Nasal polyposis, familial

• Nasopalpebral lipoma coloboma syndrome

• Nasopharyngeal cancer, childhood

• Nasopharyngeal carcinoma

• Natal teeth, intestinal pseudoobstruction and patent ductus

• Native American myopathy

• Necrobiosis lipoidica

• Necrotizing autoimmune myopathy

• Negative rheumatoid factor polyarthritis

• Nemaline myopathy

• Neonatal adrenoleukodystrophy

• Neonatal herpes

• Neonatal hypothyroidism

• Neonatal intrahepatic cholestasis caused by citrin deficiency

• Neonatal progeroid syndrome

• Neonatal severe hyperparathyroidism

• 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

• Neuhauser Eichner Opitz syndrome

• Neuroaxonal dystrophy renal tubular acidosis

• Neuroepithelioma

• Neuroferritinopathy

• Neurofibromatosis type 1

• Neurofibromatosis type 2

• Neurogenic hypertension

• Neuroleptic malignant syndrome

• 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

• 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

• Neutral lipid storage disease with myopathy

• Neutropenia chronic familial

• Neutropenia lethal congenital with eosinophilia

• Neutropenia monocytopenia deafness

• Neutrophil-specific granule deficiency

• Nevi flammei, familial multiple

• New daily-persistent headache

• NF-kappa B Essential Modulator Deficiency

• Niemann-Pick disease

• Niemann-Pick disease type A

• Niemann-Pick disease type B

• Niemann-Pick disease type C1

• Niemann-Pick disease type C2

• Night blindness-skeletal anomalies-dysmorphism syndrome

• Nipah virus encephalitis

• Nodular nonsuppurative panniculitis

• Nodular regenerative hyperplasia

• Non 24 hour sleep wake disorder

• Non functioning pancreatic endocrine tumor

• Non-A-E hepatitis

• Non-dystrophic myotonic disorders

• Non-Hodgkin lymphoma, childhood

• Non-Hodgkin lymphoma, during pregnancy

• Non-lissencephalic cortical dysplasia

• Nondystrophic myotonia

• Nonmedullary thyroid carcinoma, with or without cell oxyphilia

• Nonspherocytic hemolytic anemia due to hexokinase deficiency

• Noonan-like/multiple giant cell lesion syndrome

• Normokalemic periodic paralysis

• Normophosphatemic familial tumoral calcinosis

• North Carolina macular dystrophy

• Northern epilepsy

• Not otherwise specified 3-MGA-uria type

• O Donnell Pappas syndrome

• Obesity due to congenital leptin deficiency

• Occipital horn syndrome

• Ocular albinism type 1

• Ocular cicatricial pemphigoid

• Ocular Muscular Dystrophy

• Ocular toxoplasmosis

• Oculo-auriculo-vertebral spectrum

• Oculo-cerebral dysplasia

• Oculocerebral hypopigmentation syndrome type Preus

• Oculocerebral syndrome with hypopigmentation

• Oculocutaneous albinism type 1

• Oculocutaneous albinism type 1B

• Oculocutaneous albinism type 2

• Oculocutaneous albinism type 3

• Oculodentodigital dysplasia

• Oculodentodigital dysplasia dominant

• Oculodentoosseous dysplasia recessive

• Oculomotor apraxia Cogan type

• Oculopharyngeal muscular dystrophy

• Oculopharyngodistal myopathy

• Odonto onycho dysplasia with alopecia

• Odontoma dysphagia syndrome

• Odontomicronychial dysplasia

• Odontoonychodermal dysplasia

• Oligodactyly tetramelic postaxial

• Oligomeganephronic renal hypoplasia

• Olivopontocerebellar atrophy

• Olivopontocerebellar atrophy deafness

• Omodysplasia 1

• Omodysplasia 2

• Omphalocele cleft palate syndrome lethal

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

• Omphalomesenteric cyst

• Onychodystrophy-anonychia

• Onychotrichodysplasia and neutropenia

• OPA3 defect

• OPHN1 syndrome

• Ophthalmoplegic Muscular dystrophy

• Opisthorchiasis

• Opitz G/BBB syndrome

• Opsismodysplasia

• Opsoclonus-myoclonus syndrome

• Opthalmic icthyosis

• Opthalmomandibulomelic dysplasia

• 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

• Optic pathway glioma

• Opticoacoustic nerve atrophy dementia

• Oral leukoplakia

• Oral pharyngeal disorders

• Orbital lymphangioma

• Orbital lymphoma

• Oro-mandibular-limb hypogenesis syndrome

• Oropharyngeal cancer, adult

• Oropharyngeal cancer, childhood

• Orotic aciduria type 1

• Osteoarthropathy of fingers familial

• 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

• Osteoglophonic dysplasia

• Osteomesopyknosis

• 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

• Osteopoikilosis and dacryocystitis

• Osteoporosis oculocutaneous hypopigmentation syndrome

• Osteoporosis-pseudoglioma syndrome

• 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

• Otodental dysplasia

• Otoonychoperoneal syndrome

• Otulipenia

• Ovarian epithelial cancer

• Ovarian low malignant potential tumor

• Overgrowth radial ray defect arthrogryposis

• Pachydermoperiostosis

• Pachygyria

• Pachygyria, frontotemporal

• Pachygyria-intellectual disability-epilepsy syndrome

• Pachyonychia congenita

• Pacman dysplasia

• PACS1-related syndrome

• Paget disease of bone, familial

• 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

• PANDAS

• Panhypopituitarism X-linked

• Panostotic fibrous dysplasia

• Pantothenate kinase-associated neurodegeneration

• Panuveitis

• Papillary cystadenocarcinoma

• Papillary eccrine adenoma

• Papillary glioneuronal tumors

• Papillary renal cell carcinoma

• Papillary thyroid carcinoma

• Papilledema

• 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

• PASLI disease

• Passos-Bueno syndrome

• Pasteurella multocida infection

• Patel Bixler syndrome

• Patent ductus arteriosus

• Patent ductus venosus

• 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

• Pelvic lipomatosis

• Pemphigoid gestationis

• Pemphigus

• Pemphigus and fogo selvagem

• Pemphigus foliaceus

• Pemphigus vulgaris

• Pendred syndrome

• Penile cancer, adult

• Penile cancer, childhood

• Penis agenesis

• Penoscrotal transposition

• Pentalogy of Cantrell

• Pentosuria

• Penttinen-Aula syndrome

• PEPCK 1 deficiency

• PEPCK 2 deficiency

• 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

• PGM1-CDG

• PGM3-CDG

• PHACE syndrome

• Phacomatosis pigmentokeratotica

• Phacomatosis pigmentovascularis

• Phaeohyphomycosis

• PHAVER syndrome

• Phenobarbital antenatal exposure

• Phenylketonuria

• Pheochromocytoma

• Pheochromocytoma, childhood

• Pheochromocytoma-islet cell tumor syndrome

• Philadelphia-negative chronic myeloid leukemia

• Phocomelia

• Phocomelia ectrodactyly deafness sinus arrhythmia

• Phosphoglycerate kinase deficiency

• Phosphoglycerate mutase deficiency

• Phosphomannoisomerase deficiency

• Phosphoribosylpyrophosphate synthetase deficiency

• Phosphoserine aminotransferase deficiency

• Photosensitive epilepsy

• Phyllodes tumor of the breast

• Phyllodes tumor of the prostate

• Pick's disease

• Piebaldism

• 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 annulati

• 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

• Pineoblastoma

• Pineoblastoma, childhood

• Pineocytoma

• Pinheiro Freire-Maia Miranda syndrome

• Pinta

• 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

• Plagiocephaly

• Plasma cell leukemia

• Plasmablastic lymphoma

• Plasmacytoma

• Plasmalogens synthesis deficiency isolated

• 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

• PMM2-CDG (CDG-Ia)

• Pneumocystic carinii pneumonia

• Pneumocystosis

• Pneumonia, eosinophilic

• Podder-Tolmie syndrome

• POEMS syndrome

• Poikiloderma with neutropenia

• Pointer syndrome

• Poland syndrome

• Poliomyelitis

• Polyarteritis nodosa

• Polyarticular onset juvenile idiopathic arthritis

• Polycystic bone disease

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

• Polycystic liver disease

• Polycythemia vera

• Polydactyly

• 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

• Polymyositis

• 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

• Pontine tegmental cap dysplasia

• 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

• Potato nose

• 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

• Pseudoainhum

• 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

• Pseudomongolism

• Pseudomyotonia

• Pseudomyxoma peritonei

• Pseudoneonatal adrenoleukodystrophy

• Pseudopapilledema blepharophimosis hand anomalies

• Pseudopelade of Brocq

• Pseudopolycythaemia

• Pseudoprogeria syndrome

• Pseudopseudohypoparathyroidism

• Pseudotrisomy 13 syndrome

• Pseudotumor cerebri

• Pseudoxanthoma elasticum

• Pseudoxanthoma elasticum, forme fruste

• Psittacosis

• 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

• Pulmonic stenosis

• 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

• Pycnodysostosis

• Pyknoachondrogenesis

• Pyle disease

• Pyoderma gangrenosum

• Pyogenic arthritis, pyoderma gangrenosum and acne

• Pyomyositis

• 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

• Pythiosis

• Quebec platelet disorder

• Radial hypoplasia, triphalangeal thumbs and hypospadias

• Radial ray hypoplasia choanal atresia

• Radiation induced brachial plexopathy

• Radio-digito-facial dysplasia

• Radioulnar synostosis-microcephaly-scoliosis syndrome

• Rapadilino syndrome

• Rapid-onset dystonia-parkinsonism

• Rapp-Hodgkin syndrome

• Rare lichen planus

• Rasmussen encephalitis

• Recessive dystrophic epidermolysis bullosa-generalized other

• Recurrent peripheral facial palsy

• Recurrent respiratory papillomatosis

• Red cell phospholipid defect with hemolysis

• Red skin pigment anomaly of New Guinea

• Reducing body myopathy

• Reese retinal dysplasia

• Refractory cytopenia with unilineage dysplasia

• Refsum disease with increased pipecolic acidemia

• Reginato Shiapachasse syndrome

• Relapsing polychondritis

• Renal adysplasia dominant type

• 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 hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal hypouricemia

• Renal tubular acidosis, distal, type 3

• Renal tubular acidosis, distal, type 4

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

• Renier Gabreels Jasper syndrome

• Renoprival hypertension

• Renpenning syndrome 1

• Respiratory distress syndrome, infant

• 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

• Retinohepatoendocrinologic syndrome

• Retinopathy anemia CNS anomalies

• Retinopathy aplastic anemia neurological abnormalities

• Retinopathy of prematurity

• Retinopathy pigmentary mental retardation

• Retinopathy, arteriosclerotic

• Retroperitoneal fibrosis

• Retroperitoneal liposarcoma

• Rhizomelic chondrodysplasia punctata

• Rhizomelic chondrodysplasia punctata type 1

• Rhizomelic dysplasia Patterson Lowry type

• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

• Rhizomelic pseudopolyarthritis

• Riboflavin transporter deficiency

• Richieri Costa Pereira syndrome

• Right ventricle hypoplasia

• Rigid spine syndrome

• Rippling muscle disease

• Rippling muscle disease, 1

• RNAse T2-deficient leukoencephalopathy

• Roch-Leri mesosomatous lipomatosis

• Rocky mountain spotted fever

• Roy Maroteaux Kremp syndrome

• RRM2B-related mitochondrial DNA depletion syndrome

• Saccharopinuria

• Sacral hemangiomas multiple congenital abnormalities

• Sacral plexopathy

• Sakoda complex

• SAPHO syndrome

• Say Carpenter syndrome

• Scalp defects postaxial polydactyly

• Scalp ear nipple syndrome

• Scapuloperoneal syndrome, neurogenic, Kaeser type

• Schaap Taylor Baraitser syndrome

• Schimke immunoosseous dysplasia

• Schindler disease type 1

• Schizencephaly

• Schneckenbecken dysplasia

• Schrander-Stumpel Theunissen Hulsmans syndrome

• Schwartz Jampel syndrome

• Sclerosing mucoepidermoid carcinoma with eosinophilia

• SCN8A encephalopathy

• Sebaceous gland hyperplasia, familial presenile

• Seckel like syndrome Majoor-Krakauer type

• Seizures mental retardation hair dysplasia

• Selenium poisoning

• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

• Sensory neuropathy type 1

• Sepiapterin reductase deficiency

• Septo-optic dysplasia spectrum

• Serpiginous choroiditis

• SETBP1 disorder

• Severe achondroplasia with developmental delay and acanthosis nigricans

• Severe combined immunodeficiency due to complete RAG1/2 deficiency

• Severe combined immunodeficiency, atypical

• Severe congenital nemaline myopathy

• Severe congenital neutropenia autosomal dominant

• Severe congenital neutropenia autosomal recessive 3

• Severe congenital neutropenia X-linked

• Severe generalized recessive dystrophic epidermolysis bullosa

• Severe infantile axonal neuropathy

• Severe intellectual disability-progressive spastic diplegia syndrome

• Severe X-linked intellectual disability, Gustavson type

• Shapiro syndrome

• Short limb dwarf lethal Colavita Kozlowski type

• Short limbs subluxed knees cleft palate

• Short rib-polydactyly syndrome type 3

• Short rib-polydactyly syndrome type 1

• Short rib-polydactyly syndrome type 2

• Short rib-polydactyly syndrome type 4

• Short ribs craniosynostosis polysyndactyly

• Short stature contractures hypotonia

• Short stature cranial hyperostosis hepatomegaly

• Short stature deafness neutrophil dysfunction

• Short stature dysmorphic face pelvic scapula dysplasia

• Short stature microcephaly seizures deafness

• Short stature monodactylous ectrodactyly cleft palate

• Short stature prognathism short femoral necks

• Short stature syndrome, Brussels type

• Short stature talipes natal teeth

• Short stature with optic atrophy and Pelger-Huët anomaly syndrome

• Short stature, cranial hyperostosis, hepatomegaly and diabetes

• Short stature-craniofacial anomalies-genital hypoplasia syndrome

• Shprintzen omphalocele syndrome

• Shprintzen-Goldberg craniosynostosis syndrome

• Shwartzman phenomenon

• Sialidosis type I

• Sialidosis, type II

• Sialuria, French type

• Sideroblastic anemia and mitochondrial myopathy

• Sideroblastic anemia pyridoxine-refractory autosomal recessive

• Sideroblastic anemia pyridoxine-responsive autosomal recessive

• Silengo Lerone Pelizza syndrome

• Simpson-Golabi-Behmel syndrome

• Singh Chhaparwal Dhanda syndrome

• Single upper central incisor

• Sinus node disease and myopia

• Situs inversus totalis with cystic dysplasia of kidneys and pancreas

• Sixth nerve palsy

• Skeletal dysplasia orofacial anomalies

• Skeletal dysplasia, San Diego type

• Skeleto cardiac syndrome with thrombocytopenia

• Skin fragility-woolly hair-palmoplantar keratoderma syndrome

• Slavotinek Pike Mills Hurst syndrome

• Small patella syndrome

• Smallpox

• Smith McCort dysplasia

• Smith-Lemli-Opitz syndrome

• Spasmodic dysphonia

• Spastic angina with healthy coronary artery

• Spastic ataxia Charlevoix-Saguenay type

• Spastic diplegia cerebral palsy

• Spastic diplegia infantile type

• Spastic paraparesis

• Spastic paraplegia 1

• Spastic paraplegia 10

• Spastic paraplegia 11

• Spastic paraplegia 12

• Spastic paraplegia 13

• Spastic paraplegia 14

• Spastic paraplegia 15

• Spastic paraplegia 16

• Spastic paraplegia 17

• Spastic paraplegia 18

• Spastic paraplegia 19

• Spastic paraplegia 2

• Spastic paraplegia 23

• Spastic paraplegia 24

• Spastic paraplegia 25

• Spastic paraplegia 26

• Spastic paraplegia 29

• Spastic paraplegia 3

• Spastic paraplegia 31

• Spastic paraplegia 32

• Spastic paraplegia 39

• Spastic paraplegia 4

• Spastic paraplegia 51

• Spastic paraplegia 5A

• Spastic paraplegia 5B

• Spastic paraplegia 6

• Spastic paraplegia 7

• Spastic paraplegia 8

• Spastic paraplegia 9

• Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation

• Spastic paraplegia facial cutaneous lesions

• Spastic paraplegia neuropathy poikiloderma

• Spastic paraplegia with precocious puberty

• Spastic paraplegia-epilepsy-intellectual disability syndrome

• Spastic paraplegia-glaucoma-intellectual disability syndrome

• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

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

• Spasticity multiple exostoses

• Specific antibody deficiency

• Spermatogenesis arrest

• Spheroid body myopathy

• Sphingolipidosis

• Spina bifida

• Spina bifida hypospadias

• Spinal atrophy ophthalmoplegia pyramidal syndrome

• Spinal bulbar motor neuropathy

• Spinal dysostosis type Anhalt

• Spinal intradural arachnoid cysts

• Spinal meningioma

• Spinal muscular atrophy

• Spinal muscular atrophy 1

• Spinal muscular atrophy Ryukyuan type

• Spinal muscular atrophy type 1 with congenital bone fractures

• Spinal muscular atrophy type 2

• Spinal muscular atrophy type 3

• Spinal muscular atrophy type 4

• Spinal muscular atrophy with respiratory distress 1

• Spinal shock

• Spine rigid cardiomyopathy

• Spinocerebellar ataxia

• Spinocerebellar ataxia 1

• Spinocerebellar ataxia 10

• Spinocerebellar ataxia 11

• Spinocerebellar ataxia 12

• Spinocerebellar ataxia 13

• Spinocerebellar ataxia 14

• Spinocerebellar ataxia 15

• Spinocerebellar ataxia 17

• Spinocerebellar ataxia 18

• Spinocerebellar ataxia 19 and 22

• Spinocerebellar ataxia 2

• Spinocerebellar ataxia 20

• Spinocerebellar ataxia 21

• Spinocerebellar ataxia 23

• Spinocerebellar ataxia 25

• Spinocerebellar ataxia 26

• Spinocerebellar ataxia 27

• Spinocerebellar ataxia 28

• Spinocerebellar ataxia 29

• Spinocerebellar ataxia 3

• Spinocerebellar ataxia 30

• Spinocerebellar ataxia 31

• Spinocerebellar ataxia 34

• Spinocerebellar ataxia 37

• Spinocerebellar ataxia 4

• Spinocerebellar ataxia 40

• Spinocerebellar ataxia 5

• Spinocerebellar ataxia 7

• Spinocerebellar ataxia 8

• Spinocerebellar ataxia 9

• Spinocerebellar ataxia autosomal recessive 3

• Spinocerebellar ataxia autosomal recessive 4

• Spinocerebellar ataxia autosomal recessive 5

• Spinocerebellar ataxia autosomal recessive 6

• Spinocerebellar ataxia autosomal recessive 7

• Spinocerebellar ataxia autosomal recessive 8

• Spinocerebellar ataxia autosomal recessive with axonal neuropathy

• Spinocerebellar ataxia type 6

• Spinocerebellar ataxia with axonal neuropathy type 2

• Spinocerebellar ataxia with dysmorphism

• Spinocerebellar ataxia X-linked type 2

• Spinocerebellar ataxia X-linked type 3

• Spinocerebellar ataxia X-linked type 4

• Spinocerebellar degeneration and corneal dystrophy

• Spinocerebellar degenerescence book type

• Spirochetes disease

• Spirurida Infections

• Spitz nevus

• Splenic infarcts

• Splenic neoplasm

• Splenogonadal fusion limb defects micrognatia

• Splenomegaly

• Split hand foot malformation

• Split hand foot malformation 1

• Split hand split foot malformation autosomal recessive

• Split hand split foot nystagmus

• Split hand urinary anomalies spina bifida

• Split hand/foot malformation X-linked

• Split spinal cord malformation

• Spondylarthropathy

• Spondylocamptodactyly

• Spondylocarpotarsal synostosis syndrome

• Spondylocostal dysostosis

• Spondylodysplastic Ehlers-Danlos syndrome

• Spondyloenchondrodysplasia

• Spondyloepimetaphyseal dysplasia Genevieve type

• Spondyloepimetaphyseal dysplasia joint laxity

• Spondyloepimetaphyseal dysplasia Matrilin-3 related

• Spondyloepimetaphyseal dysplasia micromelic

• Spondyloepimetaphyseal dysplasia Missouri type

• Spondyloepimetaphyseal dysplasia Shohat type

• Spondyloepimetaphyseal dysplasia Sponastrime type

• Spondyloepimetaphyseal dysplasia Strudwick type

• Spondyloepimetaphyseal dysplasia with hypotrichosis

• Spondyloepimetaphyseal dysplasia with multiple dislocations

• Spondyloepimetaphyseal dysplasia X-linked

• Spondyloepimetaphyseal dysplasia x-linked with mental deterioration

• Spondyloepimetaphyseal dysplasia, Aggrecan type

• Spondyloepiphyseal dysplasia

• Spondyloepiphyseal dysplasia congenita

• Spondyloepiphyseal dysplasia Maroteaux type

• Spondyloepiphyseal dysplasia tarda X-linked

• Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

• Spondylohypoplasia, arthrogryposis and popliteal pterygium

• Spondylometaepiphyseal dysplasia short limb-hand type

• Spondylometaphyseal dysplasia Algerian type

• Spondylometaphyseal dysplasia corner fracture type

• Spondylometaphyseal dysplasia East-African type

• Spondylometaphyseal dysplasia Sedaghatian type

• Spondylometaphyseal dysplasia type A4

• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

• Spondylometaphyseal dysplasia with cone-rod dystrophy

• Spondylometaphyseal dysplasia with dentinogenesis imperfecta

• Spondylometaphyseal dysplasia X-linked

• Spondylometaphyseal dysplasia, Kozlowski type

• Spondyloperipheral dysplasia

• Spondylospinal thoracic dysostosis

• Spondylothoracic dysostosis

• Spontaneous coronary artery dissection

• Sporotrichosis

• Spotted fever

• Spranger Schinzel Myers syndrome

• Sprengel deformity

• Stampe sorensen syndrome

• Staphylococcal food poisoning

• Staphylococcal toxic shock syndrome

• Status epilepticus

• Steatocystoma multiplex

• Steatocystoma multiplex with natal teeth

• Stenotrophomonas maltophilia infection

• Sternal malformation vascular dysplasia associatio

• Stickler syndrome type 1

• Stickler syndrome, type 2

• Stickler syndrome, type 3

• Stiff person syndrome

• STING-associated vasculopathy with onset in infancy

• Streptococcal Group A invasive disease

• Streptococcal Group B invasive disease

• Subacute sclerosing panencephalitis

• Subcortical band heterotopia

• Subcutaneous panniculitis-like T-cell lymphoma

• Subependymal giant cell astrocytoma

• Subependymal nodular heterotopia

• Subependymoma

• Subpulmonary stenosis

• Superficial siderosis of the central nervous system

• Superficial spreading melanoma

• Superior limbic keratoconjunctivitis

• Superior mesenteric artery syndrome

• Superior semicircular canal dehiscence syndrome

• Supraglottic laryngeal cancer

• Supranuclear ocular palsy

• Supratentorial primitive neuroectodermal tumor

• Supratentorial primitive neuroectodermal tumors, childhood

• Supraumbilical midabdominal raphe and facial cavernous hemangiomas

• Supravalvular aortic stenosis

• Symphalangism brachydactyly craniosynostosis

• Symphalangism distal

• Symphalangism short stature accessory testis

• Symphalangism with multiple anomalies of hands and feet

• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch

• Syncamptodactyly scoliosis

• Syndactyly Cenani Lenz type

• Syndactyly ectodermal dysplasia cleft lip palate hand foot

• Syndactyly type 1

• Syndactyly type 2

• Syndactyly type 3

• Syndactyly type 4

• Syndactyly type 5

• Syndactyly type 9

• Syndactyly-polydactyly-earlobe syndrome

• Syndromic microphthalmia, type 3

• Syndromic microphthalmia-12

• SYNGAP1-related non-syndromic intellectual disability

• Syngnathia cleft palate

• Syngnathia multiple anomalies

• Synostoses, tarsal, carpal, and digital

• Syphilitic aseptic meningitis

• Syphilitic myelopathy

• Syringocystadenoma papilliferum

• Syringomelia hyperkeratosis

• Systemic capillary leak syndrome

• Systemic onset juvenile idiopathic arthritis

• T cell immunodeficiency primary

• T-cell immunodeficiency, congenital alopecia and nail dystrophy

• T-cell lymphoma 1A

• T-cell/histiocyte rich large B cell lymphoma

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

• TARP syndrome

• Tarsal carpal coalition syndrome

• Taurodontia, absent teeth, sparse hair syndrome

• Teeth noneruption of with maxillary hypoplasia and genu valgum

• Tel Hashomer camptodactyly syndrome

• Telangiectasia macularis eruptive perstans

• TEMPI syndrome

• Temple syndrome

• Temple-Baraitser syndrome

• Temporal epilepsy, familial

• Temporomandibular ankylosis

• Temtamy preaxial brachydactyly syndrome

• Tetraamelia multiple malformations X-linked

• Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

• Tetraamelia with pulmonary hypoplasia

• Tetrahydrobiopterin deficiency

• Tetraploidy

• Tetrasomy 9p

• Thai symphalangism syndrome

• Thanatophoric dysplasia

• Thanatophoric dysplasia type 1

• Thanatophoric dysplasia type 2

• Thiamine responsive megaloblastic anemia syndrome

• Thickened earlobes with conductive deafness from incus-stapes abnormalities

• Thiopurine S methyltranferase deficiency

• Thompson Baraitser syndrome

• Thoracic dysplasia hydrocephalus syndrome

• Thoraco abdominal enteric duplication

• Thoraco limb dysplasia Rivera type

• Thoracolaryngopelvic dysplasia

• Thoracomelic dysplasia

• Thoracopelvic dysostosis

• Thrombocytopathy asplenia miosis

• Thrombocytopenia 2

• Thrombocytopenia cerebellar hypoplasia short stature

• Thrombocytopenia Robin sequence

• Thrombocytopenia with elevated serum IgA and renal disease

• Thrombotic thrombocytopenic purpura, acquired

• Thrombotic thrombocytopenic purpura, congenital

• Thumb deformity, alopecia, pigmentation anomaly

• Thunderclap headache

• Thymic epithelial tumor

• Thymic hyperplasia

• Thymic-Renal-Anal-Lung dysplasia

• Thyroid hormone plasma membrane transport defect

• Thyrotoxic periodic paralysis

• Thyrotropin deficiency, isolated

• Tibia absent polydactyly arachnoid cyst

• Tibiae bowed radial anomalies osteopenia fracture

• Tibial aplasia ectrodactyly hydrocephalus

• Tibial hemimelia cleft lip palate

• Tick paralysis

• Tick-borne encephalitis

• Torticollis keloids cryptorchidism renal dysplasia

• Total Hypotrichosis, Mari type

• Toxic epidermal necrolysis

• Trabecular myopathy

• Tracheobronchopathia osteoplastica

• Tracheoesophageal fistula

• Tracheoesophageal fistula symphalangism

• Tracheophageal fistula hypospadias

• Transient erythroblastopenia of childhood

• Transient myeloproliferative syndrome

• Transitional cell cancer of the renal pelvis and ureter

• Transposition of the great arteries

• Treponema infection

• Tricho odonto onychodysplasia syndactyly dominant type

• Tricho onychic dysplasia

• Tricho onycho hypohidrotic dysplasia

• Trichodysplasia xeroderma

• Trichohepatoenteric syndrome

• Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina

• Trichoodontoonychial dysplasia

• Trichorhinophalangeal syndrome type 1

• Trichorhinophalangeal syndrome type 2

• Trichorhinophalangeal syndrome type 3

• Trichoscyphodysplasia

• Trichostasis spinulosa

• Trichothiodystrophy

• Tricuspid atresia

• Trigeminal trophic syndrome

• Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet

• Trigonocephaly bifid nose acral anomalies

• Trigonomacrocephaly tibial defect polydactyly

• Triopia

• Triosephosphate isomerase deficiency

• Triphalangeal thumb non opposable

• Triphalangeal thumbs brachyectrodactyly

• Triple A syndrome

• Triploidy

• Trismus-pseudocamptodactyly syndrome

• Trochlea of the humerus aplasia of

• Trochlear dysplasia

• Trophoblastic tumor placental site

• Tropical sprue

• Trypanosomiasis, Human East-African

• Trypanosomiasis, Human West-African

• Tryptophanuria with dwarfism

• Tuberous sclerosis, type 1

• Tuberous sclerosis, type 2

• Tubular aggregate myopathy

• Tubulointerstitial nephritis and uveitis

• Tufting enteropathy

• Tumefactive multiple sclerosis

• Tumor necrosis factor receptor-associated periodic syndrome

• Tumor of cranial and spinal nerves

• Twenty-nail dystrophy

• Tylosis with esophageal cancer

• Type 1 plasminogen deficiency

• Typhoid fever

• Typhus

• Typical congenital nemaline myopathy

• Tyrosine-oxidase temporary deficiency

• Tyrosinemia type 1

• Tyrosinemia type 2

• Tyrosinemia type 3

• Ulcerative proctitis

• Ulerythema ophryogenesis

• Ullrich congenital muscular dystrophy

• Ulna and fibula, hypoplasia of

• Ulna hypoplasia-intellectual disability syndrome

• Ulna metaphyseal dysplasia syndrome

• Ulnar hypoplasia lobster claw deformity of feet

• Undifferentiated pleomorphic sarcoma

• Unilateral absence of a pulmonary artery

• Uniparental disomy of 6

• Uniparental disomy of chromosome 11

• Uniparental disomy of chromosome 2

• Unna-Thost palmoplantar keratoderma

• Upington disease

• Urogenital adysplasia

• Uropathy distal obstructive polydactyly

• Usher syndrome type 2A

• Usher syndrome type 3

• Usher syndrome, type 1

• Uveal coloboma-cleft lip and palate-intellectual disability

• VACTERL association with hydrocephaly, X-linked

• VACTERL hydrocephaly

• Vagneur Triolle Ripert syndrome

• Van Buchem disease type 2

• Van Regemorter Pierquin Vamos syndrome

• Variegate porphyria

• Venezuelan equine encephalitis

• Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence

• Ventricular fibrillation, idiopathic

• Ventricular septal defects

• Vertebral fusion posterior lumbosacral blepharoptosis

• Vestibulocochlear dysfunction, progressive

• Viljoen Winship syndrome

• VIPoma

• Virus associated hemophagocytic syndrome

• Visceral neuropathy familial

• Visual pathway and hypothalamic glioma, childhood

• Vitamin A embryopathy

• Vitamin B12-responsive methylmalonic acidemia

• Vitreoretinochoroidopathy dominant

• Von Hippel-Lindau disease

• Waardenburg syndrome type 1

• Waardenburg syndrome type 2

• Waardenburg syndrome type 2A

• Waardenburg syndrome type 2B

• Waardenburg syndrome type 3

• Waardenburg syndrome type 4

• Walbaum Titran Durieux Crepin syndrome

• Wandering spleen

• Welander distal myopathy, Swedish type

• West nile encephalitis

• Western equine encephalitis

• Westphal disease

• Whipple disease

• White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

• White platelet syndrome

• White sponge nevus of cannon

• Whooping cough

• Wiedemann Oldigs Oppermann syndrome

• Wiedemann Opitz syndrome

• Wilms tumor and radial bilateral aplasia

• Winkelman Bethge Pfeiffer syndrome

• Witkop syndrome

• Woolly hair hypotrichosis everted lower lip and outstanding ears

• X-linked adrenal hypoplasia congenita

• X-linked adrenoleukodystrophy

• X-linked congenital generalized hypertrichosis

• X-linked dominant scapuloperoneal myopathy

• X-linked dystonia-parkinsonism/Lubag

• X-linked hypohidrotic ectodermal dysplasia

• X-linked hypophosphatemia

• X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis

• X-linked intellectual disability, Abidi type

• X-linked intellectual disability, Najm type

• X-linked intellectual disability, Schimke type

• X-linked intellectual disability, Siderius type

• X-linked intellectual disability, Turner type

• X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

• X-linked intellectual disability-plagiocephaly syndrome

• X-linked lissencephaly with abnormal genitalia

• X-linked lymphoproliferative syndrome

• X-linked lymphoproliferative syndrome 1

• X-linked lymphoproliferative syndrome 2

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

• X-linked mental retardation craniofacial abnormal microcephaly club

• X-linked myopathy with excessive autophagy

• X-linked myotubular myopathy

• X-linked non-specific intellectual disability

• X-linked periventricular heterotopia

• X-linked susceptibility to autism-4

• X-linked thrombocytopenia

• Xanthinuria type 1

• Xanthinuria type 2

• Xeroderma pigmentosum

• Xeroderma pigmentosum type 7

• Xeroderma pigmentosum, type 1

• Xeroderma pigmentosum, type 2

• Xeroderma pigmentosum, type 3

• Xeroderma pigmentosum, type 5

• Xeroderma pigmentosum, type 6

• Xeroderma pigmentosum, type 9

• Xeroderma pigmentosum, variant type

• Xeroderma talipes enamel defects

• XFE progeroid syndrome

• XK aprosencephaly

• Xp22.3 microdeletion syndrome

• Y chromosome pericentric inversion

• Yemenite deaf-blind hypopigmentation syndrome

• ZAP-70 deficiency

• Zazam Sheriff Phillips syndrome