Rare Hematology News
Rare Disease Profiles
A
- Aagenaes syndrome
- Aarskog syndrome
- Abdominal aortic aneurysm
- Abdominal chemodectomas with cutaneous angiolipomas
- Abdominal cystic lymphangioma
- Abdominal obesity metabolic syndrome
- Aberrant subclavian artery
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- ABri amyloidosis
- Abruzzo-Erickson syndrome
- Absence of fingerprints congenital milia
- Absence of gluteal muscle
- Absence of septum pellucidum
- Absence of Tibia
- Absence of tibia with polydactyly
- Absent breasts and nipples
- Absent patella
- Acalvaria
- Acanthamoeba keratitis
- Acanthocheilonemiasis
- Acanthoma
- Acanthosis nigricans
- Acanthosis nigricans muscle cramps acral enlargement
- Acardia
- Acatalasemia
- Accessory deep peroneal nerve
- Accessory navicular bone
- Accessory pancreas
- ACDC
- Aceruloplasminemia
- Acetyl CoA acetyltransferase 2 deficiency
- Acetyl-carnitine deficiency
- Achalasia microcephaly syndrome
- Achard syndrome
- Achard Thiers syndrome
- Acheiropody
- Achondrogenesis
- Achondroplasia
- Achromatopsia 2
- Achromatopsia 3
- Acinic cell carcinoma
- Acitretin embryopathy
- Acoustic neuroma
- Acquired agranulocytosis
- Acquired amegakaryocytic thrombocytopenia
- Acquired angioedema
- Acquired generalized lipodystrophy
- Acquired hemophilia
- Acquired hemophilia A
- Acquired pure red cell aplasia
- Acquired Von Willebrand syndrome
- Acral dysostosis dyserythropoiesis syndrome
- Acral lentiginous melanoma
- Acral peeling skin syndrome
- Acrocallosal syndrome, Schinzel type
- Acrocapitofemoral dysplasia
- Acrocardiofacial syndrome
- Acrocephalopolydactyly
- Acrodermatitis
- Acrodermatitis enteropathica
- Acrodysostosis
- Acrodysplasia scoliosis
- Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
- Acrofacial dysostosis Catania type
- Acrofacial dysostosis Palagonia type
- Acrofacial dysostosis Preis type
- Acrofacial dysostosis Rodriguez type
- Acrofrontofacionasal dysostosis syndrome
- Acrogeria, Gottron type
- Acrokeratoelastoidosis of Costa
- Acromegaloid changes, cutis verticis gyrata and corneal leukoma
- Acromegaloid facial appearance syndrome
- Acromegaloid features, overgrowth, cleft palate and hernia
- Acromegaloid hypertrichosis syndrome
- Acromegaly
- Acromelanosis
- Acromelic frontonasal dysostosis
- Acromesomelic dysplasia
- Acromesomelic dysplasia Campailla Martinelli type
- Acromesomelic dysplasia Hunter Thompson type
- Acromesomelic dysplasia Maroteaux type
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acroosteolysis-keloid-like lesions-premature aging syndrome
- Acropectoral syndrome
- Acropectorovertebral dysplasia F form
- Acrorenal mandibular syndrome
- Acrorenal syndrome recessive
- Acrospiroma
- Acro-pectoro-renal field defect
- ACSL4-related intellectual disability
- ACTG2-related disorders
- ACTH-independent macronodular adrenal hyperplasia
- ACTH-secreting pituitary adenoma
- Actinic cheilitis
- Actinic lichen planus
- Actinomycosis
- Acute ackee fruit intoxication
- Acute alcohol sensitivity
- Acute articular rheumatism
- Acute cholinergic dysautonomia
- Acute disseminated encephalomyelitis
- Acute erythroid leukemia
- Acute fatty liver of pregnancy
- Acute febrile neutrophilic dermatosis
- Acute flaccid myelitis
- Acute graft versus host disease
- Acute hemorrhagic leukoencephalitis
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute leukemia of ambiguous lineage
- Acute lymphoblastic leukemia
- Acute lymphoblastic leukemia congenital sporadic aniridia
- Acute megakaryoblastic leukemia
- Acute monoblastic leukemia
- Acute mountain sickness
- Acute myeloblastic leukemia without maturation
- Acute myeloblastic leukemia with maturation
- Acute myeloid leukemia
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
- Acute myeloid leukemia with recurrent genetic anomaly
- Acute myelomonocytic leukemia
- Acute necrotizing encephalopathy
- Acute necrotizing ulcerative gingivitis
- 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
- Adactylia unilateral
- Adams-Oliver syndrome
- ADCY5-related dyskinesia
- Addison’s disease
- Adenine phosphoribosyltransferase deficiency
- Adenocarcinoid tumor
- Adenocarcinoma of the appendix
- Adenoid cystic carcinoma
- Adenoma of the adrenal gland
- Adenomyosis
- Adenosarcoma of the uterus
- Adenosine deaminase deficiency
- Adenosine Deaminase 2 deficiency
- Adenosine monophosphate deaminase 1 deficiency
- Adenosquamous carcinoma of the endometrium
- Adenosylcobalamin deficiency
- Adenylosuccinase deficiency
- Adermatoglyphia
- Adie syndrome
- Adiposis dolorosa
- Adnexal spiradenoma/cylindroma of a sweat gland
- ADNP syndrome
- Adolescent idiopathic scoliosis
- Adrenal cancer
- Adrenal medulla cancer
- Adrenocortical carcinoma
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- Adult neuronal ceroid lipofuscinosis
- Adult polyglucosan body disease
- Adult progressive spinal muscular atrophy Aran Duchenne type
- ADULT syndrome
- Adult T-cell leukemia/lymphoma
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset nemaline myopathy
- Adult-onset Still’s disease
- Adult-onset vitelliform macular dystrophy
- Advanced sleep phase syndrome, familial
- Adverse events of 5-alpha-reductase inhibitors
- Aerobic actinomyces infection
- Afibrinogenemia
- Agammaglobulinemia X-linked type 2
- Agammaglobulinemia, microcephaly, and severe dermatitis
- Agammaglobulinemia, non-Bruton type
- Aganglionosis, total intestinal
- Agenesis of the dorsal pancreas
- Aggressive NK cell leukemia
- Aglossia and Situs Inversus
- Agnathia-microstomia-synotia
- Agnosia
- Agyria pachygyria polymicrogyria
- Agyria-pachygyria type 1
- Ahumada Del Castillo syndrome
- Aicardi syndrome
- Aicardi-Goutieres syndrome
- AIDS Dementia Complex
- AIDS dysmorphic syndrome
- Ainhum
- Airway-centered interstitial fibrosis
- Akaba Hayasaka syndrome
- Akesson syndrome
- Aksu von Stockhausen syndrome
- Alagille syndrome
- Aland island eye disease
- Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
- Albinism
- Albinism deafness syndrome
- Albinism ocular late onset sensorineural deafness
- Albright like syndrome
- Albright’s hereditary osteodystrophy
- Aldred syndrome
- Alexander disease
- Alezzandrini syndrome
- ALG1-CDG (CDG-Ik)
- ALG11-CDG (CDG-Ip)
- ALG12-CDG (CDG-Ig)
- ALG13-CDG
- ALG2-CDG (CDG-Ii)
- ALG3-CDG (CDG-Id)
- ALG6-CDG (CDG-Ic)
- ALG8-CDG (CDG-Ih)
- ALG9-CDG (CDG-IL)
- Alien hand syndrome
- Alkaptonuria
- ALK+ histiocytosis
- Allain-Babin-Demarquez syndrome
- Allan-Herndon-Dudley syndrome
- Allergic angiitis
- Allergic bronchopulmonary aspergillosis
- Allergic encephalomyelitis
- Alopecia areata
- Alopecia epilepsy oligophrenia syndrome of Moynahan
- Alopecia intellectual disability syndrome 2
- Alopecia totalis
- Alopecia universalis
- Alopecia universalis onychodystrophy vitiligo
- Alopecia, epilepsy, pyorrhea, mental subnormality
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alopecia-intellectual disability syndrome
- Alpers syndrome
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-mannosidosis
- Alpha-thalassemia
- Alpha-thalassemia x-linked intellectual disability syndrome
- Alpha-thalassemia-abnormal morphogenesis
- Alpha-1 antitrypsin deficiency
- Alport syndrome
- Alsing syndrome
- Alström syndrome
- Alternating hemiplegia of childhood
- Aluminosis
- Alveolar capillary dysplasia
- Alveolar echinococcosis
- Alveolar soft part sarcoma
- Alzheimer disease
- Alzheimer’s disease without neurofibrillary tangles
- AL amyloidosis
- Al Gazali Aziz Salem syndrome
- Al Gazali Khidr Prem Chandran syndrome
- Al Gazali Sabrinathan Nair syndrome
- Al Gazali syndrome
- Al-Gazali-Donnai-Mueller syndrome
- Amaurosis congenita cone-rod type with congenital hypertrichosis
- Amaurosis fugax
- Ambras syndrome
- Amebiasis
- Ameloblastic carcinoma
- Ameloblastoma
- 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
- Aminoacidopathies
- Aminoaciduria
- Aminoacylase 1 deficiency
- Aminolevulinate dehydratase deficiency porphyria
- Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
- Amish lethal microcephaly
- Amish Nemaline Myopathy
- AML with myelodysplasia-related features
- Amniotic band syndrome
- Amoebiasis due to free-living amoebae
- Ampola syndrome
- Amyloidosis AA
- Amyloidosis Beta2M
- Amyloidosis bronchopulmonary
- Amyloidosis corneal
- Amyloidosis familial visceral
- Amyloidosis of gingiva and conjunctiva with intellectual disability
- Amyloid neuropathy
- Amyopathic dermatomyositis
- Amyotonia congenita
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
- Amyotrophy, neurogenic scapuloperoneal, New England type
- Anal cancer
- Anal sphincter dysplasia
- Anaplastic astrocytoma
- Anaplastic ependymoma
- Anaplastic ganglioglioma
- Anaplastic large cell lymphoma
- Anaplastic oligoastrocytoma
- Anaplastic oligodendroglioma
- Anaplastic plasmacytoma
- Anaplastic pleomorphic xanthoastrocytoma
- Anaplastic small cell lymphoma
- Anaplastic thyroid cancer
- Anauxetic dysplasia
- ANCA-associated vasculitis
- Ancylostomiasis
- Andermann syndrome
- Andersen-Tawil syndrome
- Androgenetic alopecia
- Androgen insensitivity syndrome
- Androgen insensitivity syndrome, mild
- Anemia due to Adenosine triphosphatase deficiency
- Anemia sideroblastic and spinocerebellar ataxia
- Anencephaly
- Anencephaly and spina bifida X-linked
- Aneurysmal bone cysts
- Aneurysm of sinus of Valsalva
- Aneurysm, intracranial berry, 2
- Angelman syndrome
- Angel shaped phalangoepiphyseal dysplasia
- Angioimmunoblastic lymphadenopathy with dysproteinemia
- Angioimmunoblastic T-cell lymphoma
- Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
- Angioma hereditary neurocutaneous
- Angioma serpiginosum
- Angiomyomatous Hamartoma
- Angiosarcoma of the breast
- Angiosarcoma of the liver
- Angiosarcoma of the scalp
- Angiostrongyliasis
- Aniridia
- Aniridia absent patella
- Aniridia ptosis intellectual disability familial obesity
- Aniridia renal agenesis psychomotor retardation
- Anisakiasis
- Ankyloblepharon filiforme adnatum cleft palate
- Ankyloblepharon filiforme imperforate anus
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Ankylosing spondylitis
- Ankylosing vertebral hyperostosis with tylosis
- Ankylosis of teeth
- Ankyrin-B syndrome
- Annular atrophic lichen planus
- Annular constricting bands
- Annular lichen planus
- Annular pancreas
- Anodontia
- Anomalous origin of right pulmonary artery familial
- Anonychia congenita
- Anonychia ectrodactyly
- Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
- Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
- Anophthalmia cleft palate micrognathia
- Anophthalmia esophageal atresia cryptorchidism
- Anophthalmia megalocornea cardiopathy skeletal anomalies
- Anophthalmia plus syndrome
- Anophthalmos with limb anomalies
- Anorchia
- Anotia facial palsy cardiac defect
- Antecubital pterygium
- Anterior ischemic optic neuropathy
- Anterior segment dysgenesis
- Anterior spinal artery stroke
- Anterior uveitis
- Anthrax
- Antigen-peptide-transporter 2 deficiency
- Antiphospholipid syndrome
- Antisynthetase syndrome
- Anti-HLA hyperimmunization
- Anti-PIT-1 antibody syndrome
- Anti-plasmin deficiency, congenital
- Antley Bixler syndrome
- Anton’s syndrome
- Aorta-pulmonary artery fistula
- Aortic aneurysm, familial thoracic 4
- Aortic arches defect
- Aortic arch anomaly peculiar facies intellectual disability
- Aortic arch interruption
- Aortic coarctation
- Aortic dissection lentiginosis
- Aortic valves stenosis of the child
- Aortic valve stenosis
- Aortopulmonary window
- Apert syndrome
- Aphalangia partial with syndactyly and duplication of metatarsal IV
- Aphthous stomatitis
- Aplasia cutis congenita
- Aplasia cutis congenita intestinal lymphangiectasia
- Aplasia cutis congenita of limbs recessive
- Aplasia cutis myopia
- Aplastic anemia
- Apocrine carcinoma
- Apolipoprotein C-II deficiency
- Apo A-I deficiency
- Apparent mineralocorticoid excess
- Apraxia
- AP-4-Associated Hereditary Spastic Paraplegia
- Aquagenic pruritus
- Aquagenic syringeal acrokeratoderma
- Aquagenic urticaria
- Arachnodactyly intellectual disability dysmorphism
- Arachnoiditis
- Arachnoid cysts
- Arbovirosis
- AREDYLD
- Arena syndrome
- Arginase deficiency
- Argininosuccinic aciduria
- Arhinia choanal atresia microphthalmia
- Arnold Stickler Bourne syndrome
- Aromatase deficiency
- Aromatase excess syndrome
- Aromatic L-amino acid decarboxylase deficiency
- Arrhinia
- Arrhythmogenic right ventricular cardiomyopathy
- Arroyo Garcia Cimadevilla syndrome
- Arterial calcification of infancy
- Arterial tortuosity syndrome
- Arthrochalasia Ehlers-Danlos syndrome
- Arthrogryposis and ectodermal dysplasia
- Arthrogryposis due to muscular dystrophy
- Arthrogryposis epileptic seizures migrational brain disorder
- Arthrogryposis IUGR thoracic dystrophy
- Arthrogryposis multiplex congenita
- Arthrogryposis multiplex congenita CNS calcification
- Arthrogryposis multiplex congenita neurogenic type
- Arthrogryposis multiplex congenita pulmonary hypoplasia
- Arthrogryposis multiplex congenita whistling face
- Arthrogryposis multiplex congenita, distal, X-linked
- Arthrogryposis multiplex with deafness, inguinal hernias, and early death
- Arthrogryposis renal dysfunction cholestasis syndrome
- Arthrogryposis spinal muscular atrophy
- Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
- Arthrogryposis-like hand anomaly and sensorineural deafness
- Arts syndrome
- ARX-related intellectual disability
- Asbestosis
- Ascher Syndrome
- Asherman’s syndrome
- Aspartylglycosaminuria
- Asperger syndrome
- Aspergillosis
- Aspergillus niger infection
- Asphyxia neonatorum
- Asrar Facharzt Haque syndrome
- Asternia
- Asthma
- Astley-Kendall syndrome
- Astroblastoma
- Ataxia hypogonadism choroidal dystrophy
- Ataxia telangiectasia
- Ataxia with oculomotor apraxia type 1
- Ataxia with Oculomotor Apraxia Type 2
- Ataxia with oculomotor apraxia type 3
- Ataxia with oculomotor apraxia type 4
- Ataxia with vitamin E deficiency
- Atelosteogenesis type 1
- Atelosteogenesis type 2
- Atelosteogenesis type 3
- Athetosis
- Atkin syndrome
- Atlanto-Axial Fusion
- Atransferrinemia
- Atresia of small intestine
- Atrial myxoma, familial
- Atrial septal defect coronary sinus
- Atrial septal defect ostium primum
- Atrial septal defect sinus venosus
- Atrioventricular septal defect
- Atrophic lichen planus
- Atrophoderma of Pasini and Pierini
- Atrophoderma vermiculata
- Attenuated familial adenomatous polyposis
- Atypical hemolytic uremic syndrome
- Atypical mycobacteriosis, familial
- Atypical Werner syndrome
- Auditory neuropathy spectrum disorder
- Auralcephalosyndactyly
- Auriculoosteodysplasia
- Auriculo-condylar syndrome
- Ausems Wittebol-Post Hennekam syndrome
- Autism spectrum disorder
- Autism with port-wine stain
- Autoimmune atrophic gastritis
- Autoimmune autonomic ganglionopathy
- Autoimmune encephalitis
- Autoimmune enteropathy
- Autoimmune gastrointestinal dysmotility
- Autoimmune hemolytic anemia
- Autoimmune hepatitis
- Autoimmune Inner Ear disease
- Autoimmune lymphoproliferative syndrome
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Autoimmune myocarditis
- Autoimmune oophoritis
- Autoimmune pancreatitis
- Autoimmune polyglandular syndrome type 1
- Autoimmune polyglandular syndrome type 2
- Autoimmune polyglandular syndrome type 3
- Autoimmune pulmonary alveolar proteinosis
- Autoimmune retinopathy
- Autosomal dominant Alport syndrome
- Autosomal dominant candidiasis familial chronic mucocutaneous
- Autosomal dominant centronuclear myopathy
- Autosomal dominant cerebellar ataxia
- Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
- Autosomal dominant compelling helio ophthalmic outburst syndrome
- Autosomal dominant deafness-onychodystrophy syndrome
- Autosomal dominant distal renal tubular acidosis
- Autosomal dominant hyper IgE syndrome
- Autosomal dominant intellectual disability 30
- Autosomal dominant intellectual disability 40
- Autosomal dominant intellectual disability 49
- Autosomal dominant intermediate Charcot-Marie-Tooth
- Autosomal dominant leukodystrophy with autonomic disease
- Autosomal dominant neuronal ceroid lipofuscinosis 4B
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant optic atrophy plus syndrome
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal dominant partial epilepsy with auditory features
- Autosomal dominant polycystic kidney disease
- Autosomal dominant pseudohypoaldosteronism type 1
- Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
- Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
- Autosomal dominant spondyloepiphyseal dysplasia tarda
- Autosomal dominant tubulointerstitial kidney disease
- Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
- Autosomal dominant tubulointerstitial kidney disease due to REN mutations
- Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
- Autosomal dominant type B hypercholesterolemia
- Autosomal dominant vitreoretinochoroidopathy
- Autosomal erythropoietic protoporphyria
- Autosomal recessive Alport syndrome
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bestrophinopathy
- Autosomal recessive candidiasis familial chronic mucocutaneous
- Autosomal recessive centronuclear myopathy
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive early-onset inflammatory bowel disease
- Autosomal recessive hyper IgE syndrome
- Autosomal recessive intellectual disability 58
- Autosomal recessive intermediate Charcot-Marie-Tooth disease
- Autosomal recessive juvenile Parkinson disease
- Autosomal recessive nonsyndromic congenital nuclear cataract
- Autosomal recessive 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 spastic paraplegia type 49
- Autosomal recessive spinocerebellar ataxia 9
- Axenfeld-Rieger syndrome
- Axial mesodermal dysplasia spectrum
- Axial osteomalacia
- Axial spondylometaphyseal dysplasia
- Ayazi syndrome
B
- Babesiosis
- Baby rattle pelvic dysplasia
- Bacterial meningitis
- Baetz-Greenwalt syndrome
- Bagatelle Cassidy syndrome
- Bainbridge-Ropers syndrome
- Bain type of X-linked syndromic intellectual disability
- Baker Vinters syndrome
- Balantidiasis
- Balkan endemic nephropathy
- Baller-Gerold syndrome
- Bamforth syndrome
- Bangstad syndrome
- Banki syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Banti’s syndrome
- Bantu siderosis
- BAP1 tumor predisposition syndrome
- Baraitser-Winter syndrome
- Barakat syndrome
- Barber Say syndrome
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 11
- Bardet-Biedl syndrome 12
- Bardet-Biedl syndrome 2
- Bardet-Biedl syndrome 3
- Bardet-Biedl syndrome 4
- Bardet-Biedl syndrome 5
- Bardet-Biedl syndrome 6
- Bardet-Biedl syndrome 7
- Bardet-Biedl syndrome 8
- Bardet-Biedl syndrome 9
- Bare lymphocyte syndrome
- Bare lymphocyte syndrome 2
- Baritosis
- Barnicoat Baraitser syndrome
- Baroreflex failure
- Barraquer-Simons syndrome
- Barrett esophagus
- Barth syndrome
- Bartter syndrome
- Bartter syndrome antenatal type 1
- Bartter syndrome antenatal type 2
- Bartter syndrome type 3
- Bartter syndrome type 4
- Basaloid follicular hamartoma
- Basal cell carcinoma, infundibulocystic
- Basal cell carcinoma, multiple
- Basaran Yilmaz syndrome
- Basedow’s coma
- Battaglia-Neri syndrome
- Baylisascaris infection
- Bazex-Dupre-Christol syndrome
- Bd syndrome
- Beare-Stevenson cutis gyrata syndrome
- Becker muscular dystrophy
- Becker nevus syndrome
- Becker’s nevus
- Beckwith-Wiedemann syndrome
- Bednar tumor
- Beemer Ertbruggen syndrome
- Behavioral variant of frontotemporal dementia
- Behçet disease
- Behr syndrome
- Bejel
- Bell’s palsy
- Benallegue Lacete syndrome
- Benign angiitis of the central nervous system
- Benign autosomal dominant myopathy
- Benign eccrine spiradenoma
- Benign essential blepharospasm
- Benign familial infantile epilepsy
- Benign familial neonatal epilepsy
- Benign familial neonatal-infantile seizures
- Benign hereditary chorea
- Benign mesonephroma
- Benign metastasizing leiomyoma
- 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)
- BENTA disease
- Bent bone dysplasia syndrome
- Ben Ari Shuper Mimouni syndrome
- Beriberi
- Berk-Tabatznik syndrome
- Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
- Beryllium disease
- Best vitelliform macular dystrophy
- Beta ketothiolase deficiency
- Beta-galactosidase-1 deficiency
- Beta-Propeller Protein-Associated Neurodegeneration
- Beta-sarcoglycanopathy
- Beta-thalassemia
- Bethlem myopathy
- Beukes familial hip dysplasia
- Bidirectional tachycardia
- Biemond syndrome
- Biemond syndrome type 1
- Biemond syndrome 2
- Bier spots
- Bietti crystalline corneoretinal dystrophy
- Bifid nose
- Bifid nose with or without anorectal and renal anomalies
- Bilateral frontal polymicrogyria
- Bilateral frontoparietal polymicrogyria
- Bilateral generalized polymicrogyria
- Bilateral parasagittal parieto-occipital polymicrogyria
- Bilateral perisylvian polymicrogyria
- Bilateral renal agenesis dominant type
- Bile acid synthesis defect, congenital, 4
- Bile duct cancer
- Bile duct cysts
- Biliary atresia
- Biliary atresia intrahepatic non syndromic form
- Biliary atresia intrahepatic syndromic form
- Biliary hypoplasia
- Biliary tract cancer
- Billet Bear syndrome
- Binswanger’s disease
- Biotinidase deficiency
- Biotin-thiamine-responsive basal ganglia disease
- Bipolar disorder
- Birdshot chorioretinopathy
- Birk-Barel syndrome
- Birt-Hogg-Dube syndrome
- Bixler Christian Gorlin syndrome
- Bizarre parosteal osteochondromatous proliferation
- Bjornstad syndrome
- BK-virus nephropathy
- Black hairy tongue
- Bladder cancer
- Blastic plasmacytoid dendritic cell
- Blastomycosis
- Blau syndrome
- Bleeding disorder due to P2RY12 defect
- Blepharonasofacial malformation syndrome
- Blepharophimosis
- Blepharophimosis intellectual disability syndromes
- Blepharophimosis with ptosis, syndactyly, and short stature
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Blepharoptosis myopia ectopia lentis
- Blepharo naso facial syndrome Van maldergem type
- Blepharo-cheilo-odontic syndrome
- Bloom syndrome
- Blount disease
- Blue cone monochromatism
- Blue diaper syndrome
- Blue rubber bleb nevus syndrome
- Bobble-head doll syndrome
- BOD syndrome
- Boerhaave syndrome
- Bohring-Opitz syndrome
- Bone dysplasia Azouz type
- Bone dysplasia corpus callosum agenesis
- Bone dysplasia lethal Holmgren type
- Bone dysplasia Moore type
- Bone marrow necrosis
- Book syndrome
- Boomerang dysplasia
- Borjeson-Forssman-Lehmann syndrome
- Bork Stender Schmidt syndrome
- Borrone Di Rocco Crovato syndrome
- BOR-Duane hydrocephalus contiguous gene syndrome
- Bothriocephalosis
- Botulism
- Boudhina Yedes Khiari syndrome
- Bowenoid papulosis
- Bowen’s disease
- Bowen-Conradi syndrome
- Bowing of legs, anterior with dwarfism
- Bowing of long bones congenital
- Bow hunter’s stroke
- Boylan Dew Greco syndrome
- Brachial amelia, cleft lip, and holoprosencephaly
- Brachioskeletogenital syndrome
- Brachycephalofrontonasal dysplasia
- Brachydactylous dwarfism Mseleni type
- Brachydactyly
- Brachydactyly absence of distal phalanges
- Brachydactyly anonychia
- Brachydactyly elbow wrist dysplasia
- Brachydactyly long thumb type
- Brachydactyly Mononen type
- Brachydactyly preaxial with hallux varus and thumb abduction
- Brachydactyly small stature face anomalies
- Brachydactyly tibial hypoplasia
- Brachydactyly types B and E combined
- 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 with hypertension
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Brachymesomelia renal syndrome
- Brachymesophalangy type 2
- Brachymetapody anodontia hypotrichosis albinoidism
- Brachyolmia
- Brachyolmia type 3
- Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- Braddock Jones Superneau syndrome
- Bradyopsia
- Brain dopamine-serotonin vesicular transport disease
- Brain stem cancer
- Brain tumor, adult
- Brain tumor, childhood
- Brain-lung-thyroid syndrome
- Branchial arch defects
- Branchial arch syndrome X-linked
- Branchiooculofacial syndrome
- Branchiootic syndrome
- Branchiootorenal syndrome
- BRCA1 hereditary breast and ovarian cancer syndrome
- BRCA2 hereditary breast and ovarian cancer syndrome
- Breast cancer, male
- Brenner tumor of ovary
- Brenner tumor of the vagina
- Brittle bone syndrome lethal type
- Brittle cornea syndrome
- Brittle diabetes
- Brody myopathy
- Broken heart syndrome
- Bronchial adenomas/carcinoids childhood
- Bronchiectasis oligospermia
- Bronchiolitis obliterans
- Bronchiolitis obliterans organizing pneumonia
- Bronchogenic cyst
- Bronchopulmonary dysplasia
- Brooks Wisniewski Brown syndrome
- Brown syndrome
- Brown-Sequard syndrome
- Brucellosis
- Bruck syndrome 1
- Bruck syndrome 2
- Brugada syndrome
- Brugada syndrome 3
- Brugada syndrome 4
- Brunsting-Perry syndrome
- Bruyn Scheltens syndrome
- Bubonic plague
- Budd-Chiari syndrome
- Buerger disease
- Bullous dystrophy hereditary macular type
- Bullous pemphigoid
- Burkitt lymphoma
- Burning mouth syndrome
- Burn Goodship syndrome
- Buruli ulcer
- Buschke-Lowenstein tumor
- Buschke-Ollendorff syndrome
- Bustos Simosa Pinto Cisternas syndrome
- Byssinosis
- B cell prolymphocytic leukemia
- B-cell lymphoma
- B4GALT1-CDG (CDG-IId)
C
- Cabezas syndrome
- CADASIL
- CAD-CDG
- Caffey disease
- CAID syndrome
- Calabro syndrome
- Calcifying Epithelial Odontogenic Tumor
- Calciphylaxis
- California encephalitis
- Calloso-genital dysplasia
- Calvarial hyperostosis
- Camera Marugo Cohen syndrome
- 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
- Camurati-Engelmann disease
- Canavan disease
- Candida glabrata
- CANOMAD syndrome
- Cantalamessa Baldini Ambrosi syndrome
- Cantu Sanchez-Corona Fragoso syndrome
- Cantu Sanchez-Corona Garcia-Cruz syndrome
- Cantu Sanchez-Corona Hernandez syndrome
- Cantu syndrome
- Capillary malformation-arteriovenous malformation syndrome
- Cap myopathy
- Carbamoyl phosphate synthetase 1 deficiency
- Carbonic anhydrase VA deficiency
- Carcinoid syndrome
- Carcinoid tumor
- Carcinoid tumor childhood
- Carcinoma of the vocal tract
- Carcinoma showing thymus-like differentiation
- Cardiac diverticulum
- Cardiac hydatid cysts with intracavitary expansion
- Cardiac rupture
- Cardiac-Valvular Ehlers-Danlos syndrome
- Cardioauditory syndrome of Sanchez Cascos
- Cardioencephalomyopathy
- Cardiofacial syndrome short limbs
- Cardiofaciocutaneous syndrome
- Cardiomelic syndrome Stratton Koehler type
- Cardiomyopathy and deafness due to tRNA lysine gene mutation
- Cardiomyopathy cataract hip spine disease
- Cardiomyopathy diabetes deafness
- Cardiomyopathy dilated with woolly hair and keratoderma
- Cardiomyopathy due to anthracyclines
- Cardiomyopathy hypogonadism metabolic anomalies
- Cardiomyopathy spherocytosis
- Cardiomyopathy, fatal fetal, due to myocardial calcification
- Cardioskeletal syndrome Kuwaiti type
- Cardiospasm
- Carey-Fineman-Ziter syndrome
- Carnevale Hernandez Castillo syndrome
- Carney complex
- Carney triad
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Caroli disease
- Carotidynia
- Carotid body tumor
- Carpenter syndrome
- Carpotarsal osteochondromatosis
- Carpo tarsal osteolysis recessive
- Cartilage-hair hypoplasia
- Cartilaginous cancer
- Cartwright Nelson Fryns syndrome
- CASK-Related Disorders
- Caspase-8 deficiency
- Cassavism
- Castleman disease
- Catamenial pneumothorax
- Cataract and congenital ichthyosis
- Cataract ataxia deafness
- Cataract congenital autosomal dominant
- Cataract congenital dominant non nuclear
- Cataract congenital Volkmann type
- Cataract Hutterite type
- Cataract microcornea syndrome
- Cataract skeletal anomalies
- Cataract, autosomal recessive congenital 2
- Cataract, congenital, with microcornea or slight microphthalmia
- Cataract, posterior polar, 1
- Cataract, posterior polar, 3
- Cataract, posterior polar, 4
- Cataract, posterior polar, 5
- Cataract, total congenital
- Cataract-glaucoma
- Catastrophic antiphospholipid syndrome
- Catatrichy
- Catecholaminergic polymorphic ventricular tachycardia
- Catel Manzke syndrome
- Cat eye syndrome
- Cat scratch disease
- Caudal appendage deafness
- Caudal duplication
- Caudal regression sequence
- Cauda equina syndrome
- Cavernous lymphangioma
- CDG syndrome type 4
- CDKL5 deficiency disorder
- CDK4 linked melanoma
- CD3 deficiency
- CD4 deficiency
- Celiac disease
- Cennamo Gangemi syndrome
- Central centrifugal cicatricial alopecia
- Central congenital hypothyroidism
- Central core disease
- Central diabetes insipidus
- Central nervous system germinoma
- Central neurocytoma
- Central pain syndrome
- Central pontine myelinolysis
- Central serous chorioretinopathy
- Centronuclear myopathy
- Cercarial Dermatitis
- Cerebellar agenesis
- Cerebellar astrocytoma, childhood
- Cerebellar ataxia and hypogonadotropic hypogonadism
- Cerebellar ataxia ectodermal dysplasia
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
- Cerebellar degeneration
- Cerebellar hypoplasia
- Cerebellar hypoplasia tapetoretinal degeneration
- Cerebellar hypoplasia with endosteal sclerosis
- Cerebellar liponeurocytoma
- Cerebelloparenchymal disorder 3
- Cerebello-olivary atrophy
- Cerebellum agenesis hydrocephaly
- Cerebral astrocytoma, childhood
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral calcifications opalescent teeth phosphaturia
- Cerebral calcification cerebellar hypoplasia
- Cerebral cavernous malformation
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- Cerebral folate deficiency
- Cerebral gigantism jaw cysts
- Cerebral palsy
- Cerebral palsy ataxic
- Cerebral palsy athetoid
- Cerebral palsy spastic hemiplegic
- Cerebral palsy spastic monoplegic
- Cerebral palsy spastic quadriplegic
- Cerebral sarcoma
- Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
- Cerebral ventricle cancer
- Cerebrocostomandibular-like syndrome
- Cerebrooculonasal syndrome
- Cerebrospinal fluid leak
- Cerebrotendinous xanthomatosis
- Cerebro facio thoracic dysplasia
- Cerebro-costo-mandibular syndrome
- Cerebro-facio-articular syndrome
- Cerebro-oculo-facio-skeletal syndrome
- Ceroid lipofuscinosis neuronal 1
- Cerulean cataract
- Cervical dystonia
- Cervical hypertrichosis peripheral neuropathy
- Cervical intraepithelial neoplasia
- Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
- Chagas disease
- Chanarin-Dorfman syndrome
- Chancroid
- Chandler’s syndrome
- Chaotic atrial tachycardia
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease type 1
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 2
- Charcot-Marie-Tooth disease type 2A
- Charcot-Marie-Tooth disease type 2B
- Charcot-Marie-Tooth disease type 2F
- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth disease type 4
- Charcot-Marie-Tooth disease type 4B2
- CHARGE syndrome
- Charles Bonnet syndrome
- Charlie M syndrome
- Char syndrome
- CHD2 myoclonic encephalopathy
- Chediak-Higashi syndrome
- Cheilitis glandularis
- Cherubism
- Chester porphyria
- Chiari malformation
- Chiari malformation type 1
- Chiari malformation type 2
- Chiari malformation type 3
- Chiari malformation type 4
- Chiari-Frommel syndrome
- Chikungunya
- Chilaiditi syndrome
- Childhood acute lymphoblastic leukemia
- Childhood apraxia of speech
- Childhood brain stem glioma
- Childhood disintegrative disorder
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Childhood hepatocellular carcinoma
- Childhood hypophosphatasia
- Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
- Childhood-onset nemaline myopathy
- Childhood-onset neurodegeneration with brain atrophy
- Childhood-Onset Schizophrenia
- Children’s interstitial lung disease
- CHILD syndrome
- Chitayat Meunier Hodgkinson syndrome
- Chitty Hall Webb syndrome
- Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Cholecystitis
- Cholera
- Cholesteatoma
- Cholesterol pneumonia
- Cholesteryl ester storage disease
- Chondroblastoma
- Chondrocalcinosis due to apatite crystal deposition
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrodysplasia acromesomelic with genital anomalies
- Chondrodysplasia Blomstrand type
- Chondrodysplasia calcificans metaphysealis
- Chondrodysplasia punctata Sheffield type
- Chondrodysplasia punctata syndrome
- Chondrodysplasia punctata with steroid sulfatase deficiency
- Chondrodysplasia punctata 1, X-linked recessive
- Chondrodysplasia punctata, humero-metacarpal type
- Chondrodysplasia situs inversus imperforate anus polydactyly
- Chondrodysplasia with joint dislocations, GPAPP type
- Chondrodysplasia, Grebe type
- Chondrodystrophy
- Chondroma
- Chondrosarcoma
- CHOPS syndrome
- Chordoid glioma of the third ventricle
- Chordoma
- Chorea, remitting with nystagmus and cataracts
- Chorea-acanthocytosis
- Choreoacanthocytosis amyotrophic
- Choriocarcinoma
- Chorioretinitis
- Choroidal dystrophy central areolar
- Choroideremia
- Choroideremia hypopituitarism
- Choroiditis
- Choroid plexus carcinoma
- Choroid plexus cyst
- Choroid plexus papilloma
- Christianson syndrome
- Christian Demyer Franken syndrome
- Christian Johnson Angenieta syndrome
- Chromhidrosis
- Chromoblastomycosis
- Chromophil renal cell carcinoma
- Chromophobe renal cell carcinoma
- Chromosomal triplication
- Chromosome Xp deletion
- Chromosome Xq deletion
- Chromosome Xq duplication
- Chromosome 1p deletion
- Chromosome 1p duplication
- Chromosome 1p36 deletion syndrome
- Chromosome 1q deletion
- Chromosome 1q21.1 duplication syndrome
- Chromosome 1q41-q42 deletion syndrome
- Chromosome 1, uniparental disomy 1q12 q21
- Chromosome 10p deletion
- Chromosome 10p duplication
- Chromosome 10q deletion
- Chromosome 10q duplication
- Chromosome 10, uniparental disomy
- Chromosome 11p deletion
- Chromosome 11p duplication
- Chromosome 11q deletion
- Chromosome 11q duplication
- Chromosome 12p deletion
- Chromosome 12p duplication
- Chromosome 12q deletion
- Chromosome 12q duplication
- Chromosome 13q deletion
- Chromosome 13q duplication
- Chromosome 14q deletion
- Chromosome 14q duplication
- Chromosome 15q deletion
- Chromosome 15q duplication
- Chromosome 15q25.2 microdeletion
- Chromosome 15, trisomy mosaicism
- Chromosome 16p deletion
- Chromosome 16p duplication
- Chromosome 16p13.3 deletion syndrome
- Chromosome 16p13.3 duplication
- Chromosome 16q deletion
- Chromosome 16q duplication
- Chromosome 16 trisomy
- Chromosome 16, uniparental disomy
- Chromosome 17p deletion
- Chromosome 17p duplication
- Chromosome 17p13.1 deletion syndrome
- Chromosome 17q deletion
- Chromosome 17q duplication
- Chromosome 17q11.2 deletion syndrome
- Chromosome 18p deletion
- Chromosome 18p duplication
- Chromosome 18p tetrasomy
- Chromosome 18q duplication
- Chromosome 19p deletion
- Chromosome 19p duplication
- Chromosome 19q deletion
- Chromosome 19q duplication
- Chromosome 19q13.11 deletion syndrome
- Chromosome 2p deletion
- Chromosome 2p duplication
- Chromosome 2q deletion
- Chromosome 2q duplication
- Chromosome 2q24 microdeletion syndrome
- Chromosome 20p deletion
- Chromosome 20p duplication
- Chromosome 20q deletion
- Chromosome 20q duplication
- Chromosome 20 trisomy
- Chromosome 21q deletion
- Chromosome 21q duplication
- Chromosome 21, uniparental disomy
- Chromosome 22q deletion
- Chromosome 22q duplication
- Chromosome 3psyndrome
- Chromosome 3p duplication
- Chromosome 3q deletion
- Chromosome 3q duplication
- Chromosome 3q29 microduplication syndrome
- Chromosome 4p deletion
- Chromosome 4p duplication
- Chromosome 4q deletion
- Chromosome 4q duplication
- Chromosome 5p deletion
- Chromosome 5p duplication
- Chromosome 5q deletion
- Chromosome 5q duplication
- Chromosome 5, uniparental disomy
- Chromosome 6p deletion
- Chromosome 6p duplication
- Chromosome 6q deletion
- Chromosome 6q duplication
- Chromosome 6q25 microdeletion syndrome
- Chromosome 7p deletion
- Chromosome 7p duplication
- Chromosome 7q deletion
- Chromosome 7q duplication
- Chromosome 8p deletion
- Chromosome 8p duplication
- Chromosome 8p23.1 deletion
- Chromosome 8q deletion
- Chromosome 8q duplication
- Chromosome 8q24.3 deletion syndrome
- Chromosome 9p deletion
- Chromosome 9p duplication
- Chromosome 9q deletion
- Chromosome 9q duplication
- Chromosome 9 inversion
- Chronic active Epstein-Barr virus infection
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
- Chronic demyelinizing neuropathy with IgM monoclonal
- Chronic eosinophilic pneumonia
- Chronic erosive gastritis
- Chronic graft versus host disease
- Chronic granulomatous disease
- Chronic hiccups
- Chronic inflammatory demyelinating polyneuropathy
- Chronic intestinal pseudoobstruction
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
- Chronic lymphocytic leukemia
- Chronic myeloid leukemia
- Chronic myelomonocytic leukemia
- Chronic myeloproliferative disorders
- Chronic neutrophilic leukemia
- Chronic polyradiculoneuritis
- Chronic progressive external ophthalmoplegia
- Chronic recurrent multifocal osteomyelitis
- Chronic thromboembolic pulmonary hypertension
- CHST3-related skeletal dysplasia
- Chudley Rozdilsky syndrome
- Chudley-Mccullough syndrome
- Chylomicron retention disease
- Chylothorax, congenital
- Chylous ascites
- Ciguatera fish poisoning
- Ciliary discoordination, due to random ciliary orientation
- Ciliary dyskinesia with excessively long cilia
- Ciliary dyskinesia, due to transposition of ciliary microtubules
- Ciliary dyskinesia-bronchiectasis
- Circumferential skin creases Kunze type
- Circumscribed cutaneous aplasia of the vertex
- Circumscribed disseminated keratosis Jadassohn Lew type
- Citrullinemia type I
- Citrullinemia type II
- Citrulline transport defect
- Clark-Baraitser syndrome
- Clasped thumbs, congenital
- Classical Ehlers-Danlos syndrome
- Classical-like Ehlers-Danlos syndrome
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Classic galactosemia
- Clear cell renal cell carcinoma
- Cleft hand absent tibia
- Cleft lip and palate malrotation cardiopathy
- 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 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, cardiac defects, and intellectual disability
- Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
- Cleft tongue
- Cleidocranial dysplasia
- Cleidocranial dysplasia recessive form
- Cleidorhizomelic syndrome
- Clostridium perfringens infection
- Clostridium septicum infection
- Clostridium sordellii infection
- Clouston syndrome
- CLOVES syndrome
- Cluster headache
- Cluttering
- COACH syndrome
- Coal worker’s pneumoconiosis
- Coarse face hypotonia constipation
- COASY Protein-Associated Neurodegeneration
- Coats disease
- Cobb syndrome
- Cocaine antenatal exposure
- Coccidioidomycosis
- Coccygodynia
- Cochleosaccular degeneration of the inner ear and progressive cataracts
- Cockayne syndrome
- Cockayne syndrome type I
- Cockayne syndrome type II
- Cockayne syndrome type III
- CODAS syndrome
- Coenzyme Q cytochrome c reductase deficiency of
- Coenzyme Q10 deficiency
- Coffin syndrome 1
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Cogan’s syndrome
- Cogan-Reese syndrome
- COG1-CDG (CDG-IIg)
- COG4-CDG (CDG-IIj)
- COG5-CDG (CDG-IIi)
- COG6-CDG (CDG-IIL)
- COG7-CDG (CDG-IIe)
- COG8-CDG (CDG-IIh)
- Cohen Lockood Wyborney syndrome
- Cohen syndrome
- Cold agglutinin disease
- Cold urticaria
- Cold-induced sweating syndrome
- Cole Carpenter syndrome
- Cole disease
- Collagenopathy type 2 alpha 1
- Collagenous colitis
- Collagenous gastritis
- Collagen VI related muscular dystrophy
- Collecting duct carcinoma
- Collins Pope syndrome
- Collins Sakati syndrome
- Colloid cysts of third ventricle
- Colobomata unilobar lung heart defect
- Coloboma of alar-nasal cartilages with telecanthus
- Coloboma of eye lens
- Coloboma of iris
- Coloboma of macula
- Coloboma of macula with type B brachydactyly
- Coloboma of optic nerve
- Coloboma of optic papilla
- Coloboma porencephaly hydronephrosis
- Colonic atresia
- Colonic malakoplakia
- Colpocephaly
- Colver Steer Godman syndrome
- Combarros Calleja Leno syndrome
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency with skin granulomas
- Combined malonic and methylmalonic aciduria
- Combined oxidative phosphorylation deficiency
- Combined oxidative phosphorylation deficiency 16
- Combined pituitary hormone deficiencies, genetic forms
- Common variable immunodeficiency
- Compartment syndrome
- Complement component deficiency
- Complement component receptor 1
- Complement component 2 deficiency
- Complement component 5 deficiency
- Complement component 8 deficiency type 1
- Complement component 8 deficiency type 2
- Complement receptor deficiency
- Complete androgen insensitivity syndrome
- Complete atrioventricular canal
- Complex regional pain syndrome
- Condensing osteitis of the clavicle
- Condrodisplasia punctata rizomélica
- Conductive deafness with malformed external ear
- Cone dystrophy
- Cone dystrophy X-linked with tapetal-like sheen
- Cone-rod dystrophy
- Cone-rod dystrophy amelogenesis imperfecta
- Cone-rod dystrophy X-linked 1
- Cone-rod dystrophy X-linked 2
- Cone-rod dystrophy X-linked 3
- Cone-rod dystrophy 1
- Cone-rod dystrophy 2
- Cone-rod dystrophy 3
- Cone-rod dystrophy 5
- Cone-rod dystrophy 6
- Congenitally corrected transposition of the great arteries
- Congenital absence of the sternocleidomastoid muscle
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital amputation
- Congenital analbuminemia
- Congenital aneurysms of the great vessels
- Congenital anosmia
- Congenital aplastic anemia
- Congenital arteriovenous shunt
- Congenital articular rigidity
- Congenital benign spinal muscular atrophy dominant
- Congenital bilateral absence of the vas deferens
- Congenital bile acid synthesis defect, type 1
- Congenital bile acid synthesis defect, type 2
- Congenital bronchobiliary fistula
- Congenital cardiovascular shunt
- Congenital central hypoventilation syndrome
- Congenital chloride diarrhea
- Congenital contractural arachnodactyly
- Congenital contractures
- Congenital craniosynostosis maternal hyperthyroiditis
- Congenital cystic eye
- Congenital cystic eye multiple ocular and intracranial anomalies
- Congenital cytomegalovirus
- Congenital deafness with vitiligo and achalasia
- Congenital diaphragmatic hernia
- Congenital dislocation of the patella
- Congenital disorders of glycosylation
- 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 femoral deficiency
- Congenital fiber type disproportion
- Congenital fibrosis of extraocular muscles
- Congenital generalized lipodystrophy
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 3
- Congenital generalized lipodystrophy type 4
- Congenital giant megaureter
- Congenital heart block
- Congenital heart disease ptosis hypodontia craniostosis
- Congenital hemolytic anemia
- Congenital hepatic fibrosis
- Congenital herpes simplex
- Congenital human immunodeficiency virus
- Congenital hydrocephalus
- Congenital hyperinsulinism
- Congenital hypopituitarism
- Congenital hypothyroidism
- Congenital hypotrichosis milia
- Congenital insensitivity to pain
- Congenital insensitivity to pain with anhidrosis
- Congenital intrauterine infection-like syndrome
- Congenital laryngeal palsy
- Congenital lipoid adrenal hyperplasia
- Congenital lobar emphysema
- Congenital lymphedema
- Congenital megalo-ureter
- Congenital mesoblastic nephroma
- Congenital microcoria
- Congenital mirror movement disorder
- Congenital mitral malformation
- Congenital mitral stenosis
- Congenital mumps
- Congenital muscular dystrophy
- Congenital muscular dystrophy type 1A
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Congenital myasthenic syndromes
- Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
- Congenital myasthenic syndrome with episodic apnea
- Congenital myotonic dystrophy
- Congenital myxovirus
- Congenital nephrotic syndrome Finnish type
- Congenital nonhemolytic jaundice
- Congenital primary aphakia
- Congenital pseudoarthrosis
- Congenital pulmonary alveolar proteinosis
- Congenital pulmonary artery branch stenosis
- Congenital pulmonary lymphangiectasia
- Congenital radioulnar synostosis
- Congenital rubella
- Congenital stenosis of cervical medullary canal
- Congenital sucrase-isomaltase deficiency
- Congenital thrombotic thrombocytopenic purpura
- Congenital torticollis
- Congenital toxoplasmosis
- Congenital tracheal stenosis
- Congenital tracheomalacia
- Congenital unilateral pulmonary hypoplasia
- Congenital vagal hyperreflexivity
- Congenital varicella syndrome
- Congenital vertical talus
- Congenital Zika syndrome
- Conjunctival melanoma
- Conjunctivitis with Pseudomembrane
- Conotruncal heart malformations
- Continuous spike-wave during slow sleep syndrome
- Conversion disorder
- Convulsions benign familial neonatal dominant form
- Convulsions, benign familial infantile, 1
- Copper deficiency, familial benign
- CoQ-responsive OXPHOS deficiency
- Cormier Rustin Munnich syndrome
- Corneal crystals myopathy neuropathy
- Corneal dystrophy and perceptive deafness
- Corneal dystrophy Avellino type
- Corneal dystrophy crystalline of Schnyder
- 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
- Corneal neuropathic disease
- Cornea guttata with anterior polar cataract
- Cornelia de Lange syndrome
- Corneodermatoosseous syndrome
- Coronal synostosis, syndactyly and jejunal atresia
- Coronaro-cardiac fistula
- Coronary arteries congenital malformation
- Coronary artery aneurysm
- Corpus callosum agenesis
- Corpus callosum agenesis double urinary collecting
- Corpus callosum agenesis of blepharophimosis Robin type
- Corpus callosum dysgenesis cleft spasm
- Corpus callosum dysgenesis hypopituitarism
- Corpus callosum dysgenesis X-linked recessive
- Cortada Koussef Matsumoto syndrome
- Cortes Lacassie syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Cortical defects wormian bones and dentinogenesis imperfecta
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Corticobasal degeneration
- Corticosteroid-binding globulin deficiency
- Corticosteroid-sensitive aseptic abscesses
- Cortisone reductase deficiency
- Cor biloculare
- Cor triatriatum
- Cor triatriatum dexter
- Cor triatriatum sinister
- Costello syndrome
- Costocoracoid ligament congenitally short
- Cote Katsantoni syndrome
- Cough headache
- Cousin syndrome
- Cowden syndrome
- Coxa vara, congenital
- Coxoauricular syndrome
- Cramp-fasciculation syndrome
- Crandall syndrome
- Crane-Heise syndrome
- Craniodiaphyseal dysplasia
- Cranioectodermal dysplasia
- Craniofacial and skeletal defects
- Craniofacial deafness hand syndrome
- Craniofacial dysostosis arthrogryposis progeroid appearence
- Craniofacial dysostosis with diaphyseal hyperplasia
- Craniofacial dyssynostosis
- Craniofacial microsomia
- Craniofrontonasal dysplasia
- Craniofrontonasal syndrome Teebi type
- Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia, autosomal recessive type
- Craniomicromelic syndrome
- Craniopharyngioma
- Craniorachischisis
- Craniostenosis cataract
- Craniosynostosis
- Craniosynostosis alopecia brain defect
- Craniosynostosis arthrogryposis cleft palate
- Craniosynostosis autosomal dominant
- Craniosynostosis cleft lip palate arthrogryposis
- Craniosynostosis contractures cleft
- Craniosynostosis exostoses nevus epibulbar dermoid
- Craniosynostosis Fontaine type
- Craniosynostosis Maroteaux Fonfria type
- Craniosynostosis Philadelphia type
- Craniosynostosis, anal anomalies, and porokeratosis
- Craniotelencephalic dysplasia
- Cranio osteoarthropathy
- Crawfurd syndrome
- Creeping myiasis
- Cretinism athyreotic
- Creutzfeldt-Jakob disease
- Crigler Najjar syndrome, type 1
- Crigler-Najjar syndrome type 2
- Cri du chat syndrome
- Crohn’s disease
- Crohn’s disease of the esophagus
- Crome syndrome
- Cronkhite-Canada disease
- Crossed polydactyly type 1
- Crossed polysyndactyly
- Crouzon syndrome
- Crumpled helices and small mouth
- Crusted scabies
- Cryofibrinogenemia
- Cryoglobulinemic vasculitis
- Cryopyrin-associated periodic syndrome
- Cryptococcosis
- Cryptogenic organizing pneumonia
- Cryptomicrotia brachydactyly syndrome
- Cryptophthalmos
- Cryptosporidiosis
- Crystal arthropathies
- Culler-Jones syndrome
- Curly hair-acral keratoderma-caries syndrome
- Currarino triad
- Curry Jones syndrome
- Cushing’s syndrome
- Cutaneous anthrax
- Cutaneous collagenous vasculopathy
- Cutaneous larva migrans
- Cutaneous lupus erythematosus
- Cutaneous mastocytoma
- Cutaneous mastocytosis
- Cutaneous photosensitivity and colitis, lethal
- Cutaneous polyarteritis nodosa
- Cutaneous sclerosis
- Cutaneous T-cell lymphoma
- Cutaneous-skeletal hypophosphatemia syndrome
- Cutis gyratum acanthosis nigricans craniosynostosis
- Cutis laxa
- Cutis laxa osteoporosis
- Cutis laxa, autosomal dominant
- Cutis laxa, autosomal recessive type 1
- Cutis laxa, autosomal recessive type 2A
- Cutis laxa, autosomal recessive type 2B
- Cutis marmorata telangiectatica congenita
- Cutis verticis gyrata
- Cutis verticis gyrata mental deficiency
- Cutler Bass Romshe syndrome
- Cyclic neutropenia
- Cyclic thrombocytopenia
- Cyclic vomiting syndrome
- Cyclosporiasis
- CYLD cutaneous syndrome
- Cylindrical spirals myopathy
- Cyprus facial neuromusculoskeletal syndrome
- CYP2C19-related poor drug metabolism
- Cysticercosis
- Cystic adenomatoid malformation of lung
- Cystic adventitial disease
- Cystic fibrosis
- Cystic hygroma
- Cystic medial necrosis of aorta
- Cystinosis
- Cystinuria
- Cystoisosporiasis
- Cytochrome c oxidase deficiency
- Cytochrome p450 2D6 variant
- Cytokine deficiency
- Cytokine receptor deficiency
- Cytomegalic inclusion disease
- Cytomegalovirus retinitis
- Cytoplasmic body myopathy
- Czech dysplasia metatarsal type
- C syndrome
- C1q deficiency
- C1q nephropathy
D
- Daentl Towsend Siegel syndrome
- Dahlberg Borer Newcomer syndrome
- Daish Hardman Lamont syndrome
- Dandy-Walker complex
- Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- Dandy-Walker like malformation with atrioventricular septal defect
- Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
- Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
- Dandy-Walker malformation with postaxial polydactyly
- Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
- Daneman Davy Mancer syndrome
- Danon disease
- Darier disease
- Dauwerse-Peters syndrome
- Davenport Donlan syndrome
- DCMA syndrome
- DDOST-CDG (CDG-Ir)
- DDX3X-related intellectual disability
- Deafness and myopia syndrome
- Deafness conductive ptosis skeletal anomalies
- Deafness conductive stapedial ear malformation facial palsy
- Deafness craniofacial syndrome
- Deafness enamel hypoplasia nail defects
- Deafness goiter stippled epiphyses
- Deafness hypogonadism syndrome
- Deafness hypospadias metacarpal and metatarsal syndrome
- Deafness mesenteric diverticula of small bowel neuropathy
- Deafness mixed with perilymphatic Gusher, X-linked
- Deafness nephritis anorectal malformation
- Deafness oligodontia syndrome
- Deafness peripheral neuropathy arterial disease
- Deafness progressive cataract autosomal dominant
- Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
- Deafness X-linked, DFN3
- Deafness, autosomal dominant nonsyndromic sensorineural 17
- Deafness, autosomal dominant nonsyndromic sensorineural 22
- Deafness, autosomal dominant nonsyndromic sensorineural 23
- Deafness, autosomal dominant nonsyndromic sensorineural 24
- Deafness, autosomal dominant nonsyndromic sensorineural 3
- Deafness, autosomal dominant nonsyndromic sensorineural 53
- Deafness, autosomal recessive 51
- Deafness, autosomal recessive 55
- Deafness, dystonia, and cerebral hypomyelination
- Deafness, epiphyseal dysplasia, short stature
- Deafness, isolated, due to mitochondrial transmission
- Deafness, neurosensory nonsyndromic recessive, DFN
- Deafness, neurosensory, autosomal recessive 47
- Deafness, X-linked 2
- Deafness, X-linked, DFN
- Deafness-infertility syndrome
- Deafness-lymphedema-leukemia syndrome
- DEAF1-associated disorders
- Defective apolipoprotein B-100
- Deficiency of interleukin-1 receptor antagonist
- Deficiency of N-glycanase 1
- Dehydrated hereditary stomatocytosis
- Delayed membranous cranial ossification
- Delta-sarcoglycanopathy
- Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
- Dementia, familial Danish
- Demodicidosis
- Dendritic cell tumor
- Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
- Dengue fever
- Dense deposit disease
- Dens in dente and palatal invaginations
- Dentatorubral-pallidoluysian atrophy
- Dentinogenesis imperfecta
- Dentinogenesis imperfecta type 2
- Dentinogenesis imperfecta type 3
- Dentin dysplasia sclerotic bones
- Dentin dysplasia, coronal
- Dentin dysplasia, type 1
- Dent disease
- Denys-Drash syndrome
- DEPDC5-Related Epilepsy
- Depersonalization/derealization disorder
- Dermal eccrine cylindroma
- Dermatitis herpetiformis
- Dermatocardioskeletal syndrome Boronne type
- Dermatofibroma
- Dermatofibrosarcoma protuberans
- Dermatoleukodystrophy
- Dermatomyositis
- Dermatoosteolysis Kirghizian type
- Dermatopathia pigmentosa reticularis
- Dermatosparaxis Ehlers-Danlos syndrome
- Dermochondrocorneal dystrophy of François
- Dermoids of cornea
- Dermoodontodysplasia
- Desbuquois syndrome
- Desmoid tumor
- Desmoplastic infantile astrocytoma
- Desmoplastic infantile ganglioglioma
- Desmoplastic small round cell tumor
- Desmosterolosis
- Developmental dysphasia familial
- Developmental dysplasia of hip
- Developmental prosopagnosia
- Devriendt syndrome
- Dextrocardia
- Dextrocardia with situs inversus
- Dextrocardia with unusual facies and microphthalmia
- De Barsy syndrome
- De Quervain’s disease
- De Sanctis-Cacchione syndrome
- DFNB1
- DHDDS-CDG
- Diabetes mellitus type 1
- Diabetes persistent mullerian ducts
- Diabetic mastopathy
- Diamond-Blackfan anemia
- Diamond-Blackfan anemia 2
- Diamond-Blackfan anemia 3
- Dianzani autoimmune lymphoproliferative syndrome
- Diaphragmatic agenesis radial aplasia omphalocele
- Diaphragmatic flutter
- Diaphragmatic hernia exomphalos corpus callosum agenesis
- Diaphragmatic hernia upper limb defects
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- Diastrophic dysplasia
- Dibasic aminoaciduria 1
- Dibasic aminoaciduria 2
- Dicarboxylic aminoaciduria
- DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
- Diencephalic syndrome
- Dieterich’s disease
- Diethylstilbestrol syndrome
- Dieulafoy lesion
- Die Smulders Droog Van Dijk syndrome
- Die Smulders Vles Fryns syndrome
- Diffuse astrocytoma
- Diffuse cavernous hemangioma of the rectum
- Diffuse cutaneous mastocytosis
- Diffuse cutaneous systemic sclerosis
- Diffuse dermal angiomatosis
- Diffuse gastric cancer
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
- Diffuse idiopathic skeletal hyperostosis
- Diffuse intrinsic pontine glioma
- Diffuse Large B-Cell Lymphoma
- Diffuse mesangial sclerosis
- Diffuse neonatal hemangiomatosis
- Diffuse palmoplantar keratoderma, Bothnian type
- Diffuse panbronchiolitis
- Digestive System Melanoma
- Dihydrolipoamide dehydrogenase deficiency
- Dihydropteridine reductase deficiency
- Dihydropyrimidinase deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Dihydroxyadeninuria
- Dilated cardiomyopathy
- Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Dilated cardiomyopathy 1A
- Dilated cardiomyopathy 1E
- Diomedi Bernardi Placidi syndrome
- Diphallia
- Diphallus rachischisis imperforate anus
- Diphosphoglycerate mutase deficiency of erythrocyte
- Diphtheria
- Diploid-triploid mosaicism
- Diprosopia
- Dipsogenic diabetes insipidus
- Dirofilariasis
- Disorders with deficiency of a single peroxisomal enzyme
- Disorder of peroxisomal alpha-, betaand omega-oxidation
- Dissecting cellulitis of the scalp
- Disseminated infection with mycobacterium avium complex
- Disseminated peritoneal leiomyomatosis
- Disseminated superficial actinic porokeratosis
- Dissociative seizures
- Distal arthrogryposis
- Distal arthrogryposis type 1
- Distal arthrogryposis type 5
- Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
- Distal chromosome 18q deletion syndrome
- Distal myopathy with vocal cord weakness
- Distal primary acidosis, familial
- Distal renal tubular acidosis
- Distal renal tubular acidosis with hemolytic anemia
- Distichiasis heart congenital anomalies
- Distomatosis
- Di Guglielmo’s syndrome
- DK phocomelia syndrome
- Dobrow syndrome
- DOCK2 Deficiency
- DOLK-CDG (CDG-Im)
- Dominant cleft palate
- Dominant dystrophic epidermolysis bullosa
- Dominant optic atrophy
- Donnai-Barrow syndrome
- DOOR syndrome
- Dopamine beta hydroxylase deficiency
- Dopamine transporter deficiency syndrome
- Dopa-responsive dystonia
- Dosage-sensitive sex reversal
- Double discordia
- Double fingernail of fifth finger
- Double inferior vena cava
- Double nails on the fifth toe
- Double outlet left ventricle
- Double outlet right atrium
- Double outlet right ventricle
- Double uterus-hemivagina-renal agenesis
- Dowling-Degos disease
- Down syndrome
- Doxorubicin induced cardiomyopathy
- Doyne honeycomb retinal dystrophy
- DPAGT1-CDG (CDG-Ij)
- DPM1-CDG (CDG-Ie)
- DPM2-CDG
- DPM3-CDG (CDG-Io)
- Drachtman Weinblatt Sitarz syndrome
- Dracunculiasis
- Dravet syndrome
- Drug induced dyskinesia
- Drug reaction with eosinophilia and systemic symptoms
- Duane syndrome
- Duane-radial ray syndrome
- Duarte Galactosemia
- Dubin-Johnson syndrome
- Dubowitz syndrome
- Duchenne muscular dystrophy
- Duker Weiss Siber syndrome
- Duodenal atresia
- Duodenal atresia tetralogy of Fallot
- Duodenal carcinoid syndrome
- Duodenal ulcer due to antral G-cell hyperfunction
- Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
- Duplication of leg mirror foot
- Duplication of the thumb unilateral biphalangeal
- Duplication of urethra
- Dupont Sellier Chochillon syndrome
- Dupuytren subungual exostosis
- Dwarfism
- Dwarfism bluish sclerae
- Dwarfism deafness retinitis pigmentosa
- Dwarfism familial with muscle spasms
- Dwarfism lethal type advanced bone age
- Dwarfism Levi type
- Dwarfism thin bones multiple fractures
- Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
- Dwarfism, proportionate with hip dislocation
- Dyggve-Melchior-Clausen syndrome
- Dykes Markes Harper syndrome
- DYRK1A-Related Intellectual Disability Syndrome
- Dysautonomia like disorder
- Dyschondrosteosis nephritis
- Dyschromatosis symmetrica hereditaria 1
- Dyschromatosis universalis hereditaria
- Dysembryoplastic neuroepithelial tumor
- Dysequilibrium syndrome
- Dysferlinopathy
- Dysfibrinogenemia
- Dysgnathia complex
- Dyskeratosis congenita
- Dyskeratosis congenita autosomal dominant
- Dyskeratosis congenita autosomal recessive
- Dyskeratosis congenita X-linked
- Dysmorphism cleft palate loose skin
- Dysosteosclerosis
- Dysostosis peripheral
- Dysplasia epiphysealis hemimelica
- Dysplastic cortical hyperostosis
- Dyssegmental dysplasia and glaucoma
- Dyssegmental dysplasia Rolland-Desbuquois type
- Dyssegmental dysplasia Silverman-Handmaker type
- Dyssynergia cerebellaris myoclonica
- Dystelephalangy
- Dystonia 2, torsion, autosomal recessive
- Dystrophic epidermolysis bullosa
- Dystrophinopathy
- DYT-GNAL
- DYT-KMT2B
- DYT-PRKRA
- DYT-THAP1
- DYT-TOR1A
- DYT-TUBB4A
- D ercole syndrome
- D-bifunctional protein deficiency
- D-glycericacidemia
- D-minus hemolytic uremic syndrome (D-HUS)
- D-plus hemolytic uremic syndrome (D+HUS)
- D-2-hydroxyglutaric aciduria
E
- EAF
- Eagle syndrome
- Eales disease
- Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy 12
- Early infantile epileptic encephalopathy 18
- Early infantile epileptic encephalopathy 25
- Early infantile epileptic encephalopathy 26
- Early infantile epileptic encephalopathy 4
- Early infantile epileptic encephalopathy-64
- Early-onset anterior polar cataract
- Early-onset myopathy, areflexia, respiratory distress and dysphagia
- Early-onset parkinsonism-intellectual disability syndrome
- Early-onset zonular cataract
- Early-onset, autosomal dominant Alzheimer disease
- Eastern equine encephalitis
- Ebola virus disease
- Ebstein’s anomaly
- Eccentrochondrodysplasia
- Eccrine mucinous carcinoma
- 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
- Edinburgh malformation syndrome
- EEC syndrome
- EEM syndrome
- Egg shaped pupils
- Ehlers-Danlos syndromes
- Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehrlichiosis
- Eisenmenger syndrome
- Elastoderma
- Elastosis perforans serpiginosa
- Elective mutism
- Elizabethkingia anophelis infection
- Elliott Ludman Teebi syndrome
- Ellis Yale Winter syndrome
- Ellis-Van Creveld syndrome
- Emanuel syndrome
- Embryonal carcinoma
- Embryonal sarcoma
- Embryonal tumor with multilayered rosettes
- Emerinopathy
- Emery-Dreifuss muscular dystrophy
- Empty sella syndrome
- Enamel hypoplasia cataract hydrocephaly
- Encephalitis lethargica
- Encephalocele
- Encephalocele anencephaly
- Encephalocraniocutaneous lipomatosis
- Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
- Encephalopathy recurrent of childhood
- Enchondroma
- Enchondromatosis dwarfism deafness
- Endemic Kaposi sarcoma
- Endocardial fibroelastosis
- Endolymphatic sac tumor
- Endometrial stromal sarcoma
- Endomyocardial fibrosis
- Engelhard Yatziv syndrome
- Engraftment syndrome
- Enlarged vestibular aqueduct syndrome
- Enteropathica
- Enteropathy-associated T-cell lymphoma
- Enterovesical fistula
- Enterovirus antenatal infection
- Enthesitis-related juvenile idiopathic arthritis
- Eosinophilia-myalgia syndrome
- Eosinophilic cryptitis
- Eosinophilic cystitis
- Eosinophilic fasciitis
- Eosinophilic gastroenteritis
- Eosinophilic granulomatosis with polyangiitis
- Eosinophilic mastitis
- Eosinophilic pustular folliculitis
- Eosinophil peroxidase deficiency
- Ependymoma
- Epidermal nevus
- 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 with myoclonic-atonic seizures
- Epilepsy, benign occipital
- Epilepsy, partial, familial
- Epimetaphyseal dysplasia cataract
- 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
- Erdheim-Chester disease
- Ermine phenotype
- Erosive pustular dermatosis of the scalp
- Erysipelas
- Erythema elevatum diutinum
- Erythema multiforme
- Erythema nodosum, idiopathic
- Erythrokeratoderma ”en cocardes”
- Erythrokeratodermia variabilis et progressiva
- Erythromelalgia
- Erythroplakia
- Erythropoietic uroporphyria associated with myeloid malignancy
- Esophageal atresia
- Esophageal atresia coloboma talipes
- Esophageal cancer
- Esophageal varices
- Esotropia
- Essential fructosuria
- Essential thrombocythemia
- Essential tremor
- Ethylmalonic encephalopathy
- Eunuchoidism familial hypogonadotropic
- Evans syndrome
- Ewing sarcoma
- Exencephaly
- Exercise-induced anaphylaxis
- Exercise-induced hyperinsulinemic hypoglycemia
- Exertional headache
- Exfoliative dermatitis
- Exogenous lipoid pneumonia
- Exogenous ochronosis
- Exostoses, multiple, type 1
- Exostoses, multiple, type 2
- Exostoses, multiple, type 3
- Exstrophy of the bladder
- Exstrophy-epispadias complex
- Extracardiac Rhabdomyoma
- Extracranial arteriovenous malformation
- Extragonadal germ cell tumor
- Extramammary Paget disease
- Extranodal nasal NK/T cell lymphoma
- Extrasystoles short stature hyperpigmentation microcephaly
- Eyebrows duplication of, with stretchable skin and syndactyly
F
- Fabry disease
- FACES syndrome
- Facial clefting corpus callosum agenesis
- Facial ectodermal dysplasia
- Facial infiltrating lipomatosis
- Facial onset sensory and motor neuronopathy
- Faciocardiomelic dysplasia lethal
- Faciocardiorenal syndrome
- Faciomandibular myoclonus, nocturnal
- Facioscapulohumeral muscular dystrophy
- Facio digito genital syndrome recessive form
- Facio skeletal genital syndrome Rippberger type
- Facio thoraco genital syndrome
- Factor VII deficiency
- Factor V deficiency
- Factor V Leiden thrombophilia
- Factor XIII deficiency
- Factor XII deficiency
- Factor XI deficiency
- Factor X deficiency
- Fallopian tube cancer
- Fallot complex with severe mental and growth retardation
- Familial adenomatous polyposis
- Familial Alzheimer disease
- Familial amyloidosis, Finnish type
- Familial atrial fibrillation
- Familial atypical multiple mole melanoma syndrome
- Familial avascular necrosis of the femoral head
- Familial band heterotopia
- Familial bilateral striatal necrosis
- Familial breast cancer
- Familial capillaro-venous leptomeningeal angiomatosis
- Familial caudal dysgenesis
- Familial cerebral cavernous malformation
- Familial chylomicronemia syndrome
- Familial cold autoinflammatory syndrome
- Familial colorectal cancer
- Familial congenital palsy of trochlear nerve
- Familial cutaneous collagenoma
- Familial deafness
- Familial dermographism
- Familial dilated cardiomyopathy
- Familial Dupuytren contracture
- Familial dysautonomia
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial eosinophilia
- Familial episodic pain syndrome
- Familial erythema nodosum
- Familial exudative vitreoretinopathy
- Familial focal epilepsy with variable foci
- Familial glucocorticoid deficiency
- Familial HDL deficiency
- Familial hemiplegic migraine
- Familial hemophagocytic lymphohistiocytosis
- Familial hyperaldosteronism type III
- Familial hyperaldosteronism type 2
- Familial hypercholesterolemia
- Familial hypersecretion of adrenal androgens
- Familial hypertension
- 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 infantile convulsions and paroxysmal choreoathetosis
- Familial isolated hyperparathyroidism
- Familial isolated hypoparathyroidism
- Familial isolated pituitary adenoma
- Familial joint instability syndrome
- Familial LCAT deficiency
- Familial lipoprotein lipase deficiency
- Familial Mediterranean fever
- Familial multiple lipomatosis
- Familial multiple trichodiscomas
- Familial nasal acilia
- Familial neurocardiogenic syncope
- Familial osteochondritis dissecans
- Familial pancreatic cancer
- Familial partial lipodystrophy
- Familial partial lipodystrophy associated with PPARG mutations
- Familial partial lipodystrophy type Köbberling
- Familial partial lipodystrophy type 2
- Familial partial paralysis
- 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 sick sinus syndrome
- Familial streblodactyly
- Familial thoracic aortic aneurysm and aortic dissection
- Familial thyroglossal duct cyst
- Familial transthyretin amyloidosis
- Familial tumoral calcinosis
- Familial ventricular tachycardia
- Familial visceral myopathy with external ophthalmoplegia
- Familial Wilms tumor 2
- Familiar chronic mucocutaneous candidiasis
- Familiar or sporadic hemiplegic migraine
- Fanconi anemia
- Fanconi Bickel syndrome
- Fanconi syndrome
- Fara Chlupackova syndrome
- Farber disease
- Farmer’s lung
- Fascioliasis
- Fasting hypoglycemia
- Fatal familial insomnia
- Fatal infantile encephalomyopathy
- Fatty acid hydroxylase-associated neurodegeneration
- Faye-Petersen-Ward-Carey syndrome
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- Febrile infection-related epilepsy syndrome
- Febrile Ulceronecrotic Mucha-Habermann disease
- Feigenbaum Bergeron Richardson syndrome
- Feigenbaum Bergeron syndrome
- Feingold syndrome
- Feingold Trainer syndrome
- Felty’s syndrome
- Femoral facial syndrome
- Femur bifid with monodactylous ectrodactyly
- Femur fibula ulna syndrome
- Fenton Wilkinson Toselano syndrome
- Fertile eunuch syndrome
- Fetal akinesia deformation sequence
- Fetal akinesia syndrome X-linked
- Fetal Alcohol Spectrum Disorders
- Fetal aminopterin syndrome
- Fetal and neonatal alloimmune thrombocytopenia
- Fetal brain disruption sequence
- Fetal cystic hygroma
- Fetal enterovirus syndrome
- Fetal hydantoin syndrome
- Fetal indomethacin syndrome
- Fetal iodine syndrome
- Fetal left ventricular aneurysm
- Fetal macrosomia
- Fetal methylmercury syndrome
- Fetal minoxidil syndrome
- Fetal parainfluenza virus type 3 syndrome
- Fetal parvovirus syndrome
- Fetal phenothiazine syndrome
- Fetal retinoid syndrome
- Fetal thalidomide syndrome
- Fetal valproate syndrome
- FG syndrome
- FG syndrome 2
- FG syndrome 3
- Fibrillary glomerulonephritis
- Fibrinogen deficiency, congenital
- Fibrocartilaginous embolism
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Fibrolamellar carcinoma
- Fibromatosis
- Fibromatosis multiple non ossifying
- Fibromuscular dysplasia
- Fibrosarcoma
- Fibrosing mediastinitis
- Fibrous dysplasia
- Fibro-adipose vascular anomaly
- Fibular aplasia ectrodactyly
- Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
- Fibular hemimelia
- Fibular hypoplasia and complex brachydactyly
- Fibular hypoplasia scapulo pelvic dysplasia absent
- Filippi syndrome
- Fine-Lubinsky syndrome
- Fingerprint body myopathy
- Fish-eye disease
- Fitzsimmons syndrome
- Fitzsimmons Walson Mellor syndrome
- Fitzsimmons-Guilbert syndrome
- Fitz-Hugh-Curtis syndrome
- Flat umbilicus familial
- Flavimonas oryzihabitans infection
- Floating-Harbor syndrome
- Florid cemento-osseous dysplasia
- Florid cystic endosalpingiosis of the uterus
- Florid papillomatosis of the nipple
- FLOTCH syndrome
- Flynn Aird syndrome
- FMR1-related primary ovarian insufficiency
- Focal alopecia congenital megalencephaly
- Focal cortical dysplasia of Taylor
- Focal dermal hypoplasia
- Focal facial dermal dysplasia
- Focal or multifocal malformations in neuronal migration
- Focal palmoplantar and gingival keratoderma
- Focal segmental glomerulosclerosis
- Focal task-specific dystonia
- Foix Chavany Marie syndrome
- Follicle-stimulating hormone deficiency, isolated
- Follicular lymphoma
- Follicular lymphoreticuloma
- Fontaine Farriaux Blanckaert syndrome
- Formaldehyde poisoning
- Fountain syndrome
- Fournier gangrene
- Fowler’s syndrome
- FOXG1 syndrome
- Fox-Fordyce disease
- Fragile XE syndrome
- Fragile X syndrome
- Fragile X syndrome type 1
- Fragile X syndrome type 2
- Fragile X syndrome type 3
- Franceschini Vardeu Guala syndrome
- Frank Ter Haar syndrome
- Fraser Jequier Chen syndrome
- Fraser syndrome
- Frasier syndrome
- FRAXD
- Freeman-Sheldon syndrome
- Free sialic acid storage disease
- Freiberg’s disease
- Frenkel Russe syndrome
- Frey’s syndrome
- Frias syndrome
- Friedreich ataxia
- Frints De Smet Fabry Fryns syndrome
- Frontal fibrosing alopecia
- 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
- Fronto nasal malformation cloacal exstrophy
- Froster-Huch syndrome
- Fructose-1,6-bisphosphatase deficiency
- Fryns Fabry Remans syndrome
- Fryns Hofkens Fabry syndrome
- Fryns smeets thiry syndrome
- Fryns syndrome
- Fuchs endothelial corneal dystrophy
- Fuchs heterochromic iridocyclitis
- Fucosidosis
- Fuhrmann syndrome
- Fukuda Miyanomae Nakata syndrome
- Fukuyama type muscular dystrophy
- Fumarase deficiency
- Functioning pancreatic endocrine tumor
- Fundus dystrophy, pseudoinflammatory, of Sorsby
- Fuqua Berkovitz syndrome
- Furunculous myiasis
- Fused mandibular incisors
G
- Gait ataxia with late onset polyneuropathy syndrome
- Galactocele
- Galactokinase deficiency
- Galactorrhoea-Hyperprolactinaemia
- Galactosemia
- Galactose epimerase deficiency
- Galactosialidosis
- Gallbladder cancer
- Galloway-Mowat syndrome
- Game Friedman Paradice syndrome
- Gamma aminobutyric acid transaminase deficiency
- Gamma heavy chain disease
- Gamma-cystathionase deficiency
- Gangliocytoma
- Ganglioglioma
- Gangliosidosis
- GAPO syndrome
- Gardner syndrome
- Gardner-Diamond syndrome
- Garret Tripp syndrome
- Gastric duplication cysts
- Gastric lymphoma
- Gastric Non-Hodgkin Lymphoma
- Gastrocutaneous syndrome
- Gastrointestinal Stromal Tumors
- Gastroparesis
- Gastroschisis
- Gastro-enteropancreatic neuroendocrine tumor
- Gas bloat syndrome
- GATAD2B-associated neurodevelopmental disorder
- GATA2 deficiency
- Gaucher disease
- Gaucher disease perinatal lethal
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher ichthyosis restrictive dermopathy
- Gay Feinmesser Cohen syndrome
- Geleophysic dwarfism
- Gemignani syndrome
- Generalized lipodystrophy-associated progeroid syndrome
- Generalized peeling skin syndrome
- Generalized pustular psoriasis
- Generalized resistance to thyroid hormone
- Genetic reflex epilepsy
- Genetic steroid-resistant nephrotic syndrome
- Genital dwarfism
- Genital dwarfism, Turner type
- Genitopatellar syndrome
- Genito palato cardiac syndrome
- Genoa syndrome
- Genochondromatosis
- Genuine diffuse phlebectasia
- Genu valgum, st Helena familial
- Geographic tongue
- Geroderma osteodysplastica
- Gershinibaruch Leibo syndrome
- Gershoni-Baruch syndrome
- Gerstmann syndrome
- Gerstmann-Straussler-Scheinker disease
- Gestational diabetes insipidus
- Gestational trophoblastic tumor
- Ghosal hematodiaphyseal dysplasia syndrome
- Ghose Sachdev Kumar syndrome
- Gianotti Crosti syndrome
- Giant axonal neuropathy
- Giant cell arteritis
- Giant cell myocarditis
- Giant cell tumor of bone
- Giant congenital nevus
- Giant mammary hamartoma
- Giant papillary conjunctivitis
- Giant platelet syndrome
- Gigantism
- Gigantism advanced bone age hoarse cry
- Gigantomastia
- Gilbert syndrome
- Gillespie syndrome
- Gingival fibromatosis with distinctive facies
- Gingival fibromatosis with hypertrichosis
- Gingival fibromatosis, 1
- Gingival fibromatosis, 2
- Gingival fibromatosis, 3
- Gingival fibromatosis, 4
- Gitelman syndrome
- Glanders
- Glanzmann thrombasthenia
- Glassy cell carcinoma of the cervix
- Glaucoma iridogoniodysgenesia
- Glaucoma sleep apnea
- Glaucoma type 1C
- Glaucoma 3 primary infantile B
- Glaucoma, congenital
- Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
- Glaucoma, hereditary
- Glaucoma, hereditary adult type 1A
- Glaucoma, hereditary juvenile type 1B
- Glaucoma, primary infantile type 3A
- Glioblastoma
- Glioma
- Gliomatosis cerebri
- Gliomatosis peritonei
- Gliosarcoma
- Global disaccharide intolerance
- Globozoospermia
- Glomerulonephritis
- Glomerulonephritis with sparse hair and telangiectases
- Glomerulopathy with fibronectin deposits 1
- Glomerulopathy with fibronectin deposits 2
- Glomus jugulare tumors
- Glomus tympanicum tumor
- Glomus vagale tumor
- Glossodynia
- Glossopalatine ankylosis micrognathia ear anomalies
- Glossopharyngeal neuralgia
- Glucagonoma
- Glucocorticoid resistance
- Glucocorticoid-remediable aldosteronism
- Glucosephosphate isomerase deficiency
- Glucose transporter type 1 deficiency syndrome
- Glucose-galactose malabsorption
- Glucose-6-phosphate dehydrogenase deficiency
- Glucose-6-phosphate translocase deficiency
- Glucosidase acid-1,4-alpha deficiency
- Glutamate decarboxylase deficiency
- Glutamate formiminotransferase deficiency
- Glutamine deficiency, congenital
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glutaric acidemia type III
- Glutathione synthetase deficiency
- Glutathionuria
- Glyceraldehyde-3-phosphate dehydrogenase deficiency
- Glycine encephalopathy
- Glycine N-methyltransferase deficiency
- Glycogen storage disease type 0, liver
- Glycogen storage disease type 0, muscle
- Glycogen storage disease type 1A
- Glycogen storage disease type 1B
- Glycogen storage disease type 12
- Glycogen storage disease type 13
- 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
- Glycogen storage disease 8
- Glycoproteinosis
- Glycoprotein VI deficiency
- GMPPA-CDG
- GMS syndrome
- GM1 gangliosidosis
- GM1 gangliosidosis type 1
- GM1 gangliosidosis type 2
- GM1 gangliosidosis type 3
- GM2 gangliosidosis, 0 variant
- GM2-gangliosidosis, B, B1, AB variant
- GM3 synthase deficiency
- GNAO1 encephalopathy
- Gnathodiaphyseal dysplasia
- Gnathostoma Infection
- Goblet cell carcinoid
- Goldberg-Shprintzen megacolon syndrome
- Goldenhar disease
- Goldmann-Favre syndrome
- Gollop Coates syndrome
- GOMBO syndrome
- Gomez Lopez Hernandez syndrome
- Gonadal dysgenesis
- Gonadal dysgenesis mixed
- Gonadal dysgenesis Turner type
- Gonadal dysgenesis XY type associated anomalies
- Gonococcal conjunctivitis
- Goodpasture syndrome
- Gordon syndrome
- Gorham’s disease
- Gorlin Chaudhry Moss syndrome
- GOSR2-related progressive myoclonus ataxia
- Gracile bone dysplasia
- GRACILE syndrome
- Graham Boyle Troxell syndrome
- Graham-Cox syndrome
- Graham-Little-Piccardi-Lassueur syndrome
- Grant syndrome
- Granular cell tumor
- Granulocytopenia
- Granulomas, congenital cerebral
- Granulomatosis with polyangiitis
- Granulomatous Amebic Encephalitis
- Granulomatous hypophysitis
- Granulomatous lobular mastitis
- Granulomatous rosacea
- Granulomatous slack skin disease
- Granuloma annulare
- Granuloma Inguinale
- Granulosa cell tumor of the ovary
- Graphite Pneumoconiosis
- Graves disease
- Gray platelet syndrome
- Gray zone lymphoma
- Greenberg dysplasia
- Green Sandford Davison syndrome
- Greig cephalopolysyndactyly syndrome
- GRIN1-associated disorders
- GRIN2B related syndrome
- Griscelli syndrome
- Griscelli syndrome type 1
- Griscelli syndrome type 2
- Griscelli syndrome type 3
- Grix Blankenship Peterson syndrome
- Groenouw type I corneal dystrophy
- Groll Hirschowitz syndrome
- Group B strep disease in newborns
- Grover’s disease
- Growth hormone deficiency
- Growth hormone insensitivity with immunodeficiency
- Growth retardation hydrocephaly lung hypoplasia
- Grubben de Cock Borghgraef syndrome
- GTPCH1-deficient DRD
- GTP cyclohydrolase I deficiency
- Guanidinoacetate methyltransferase deficiency
- Guillain-Barre syndrome
- Guizar Vasquez Sanchez Manzano syndrome
- Gurrieri syndrome
- Guttate psoriasis
- Gynandroblastoma
- Gyrate atrophy of choroid and retina
H
- Haemophilus influenzae
- Hailey-Hailey disease
- Haim-Munk syndrome
- Hairy cell leukemia
- Hairy elbows
- Hairy nose tip
- Hairy palms and soles
- Hair defect-photosensitivity-intellectual disability syndrome
- HAIR-AN syndrome
- Halal Setton Wang syndrome
- Halal syndrome
- Hallermann-Streiff syndrome
- Hall-Riggs syndrome
- Halo nevus
- Hamanishi Ueba Tsuji syndrome
- HaNDL syndrome
- Hand and foot deformity with flat facies
- Hand foot uterus syndrome
- Hanhart syndrome
- Hansen’s disease
- Hantavirus pulmonary syndrome
- Hardikar syndrome
- Harding ataxia
- Hard skin syndrome Parana type
- Harlequin ichthyosis
- Harlequin syndrome
- Harrod Doman Keele syndrome
- Hartnup disease
- Hashimoto encephalopathy
- Hashimoto’s syndrome
- Hashimoto-Pritzker syndrome
- Hawkinsinuria
- Head and neck cancer
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Heart tumor
- Heart-hand syndrome, Slovenian type
- Heart-hand syndrome, Spanish type
- Heavy metal poisoning
- HEC syndrome
- Heinz body anemias
- HELLP syndrome
- Helminthiasis
- Hemangioblastoma
- Hemangioendothelioma
- Hemangiomatosis, familial pulmonary capillary
- Hemangioma thrombocytopenia syndrome
- Hemangiopericytoma
- Hematohidrosis
- Hemicrania continua
- Hemifacial hyperplasia strabismus
- Hemifacial microsomia
- Hemifacial myohyperplasia
- Hemihypertrophy
- Hemimegalencephaly
- Hemi 3 syndrome
- Hemochromatosis
- Hemochromatosis type 1
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hemochromatosis type 5
- Hemoglobinopathy
- Hemoglobin C disease
- Hemoglobin E disease
- Hemoglobin SC disease
- Hemoglobin SE disease
- Hemoglobin Zurich
- Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
- Hemolytic uremic syndrome
- Hemolytic uremic syndrome, atypical, childhood
- Hemophagocytic reticulosis
- Hemophilia
- Hemophilia A
- Hemophilia B
- Hemophilic arthropathy
- Hemorrhagic proctocolitis
- Hemorrhagic shock and encephalopathy syndrome
- Hemosiderosis
- Hennekam syndrome
- Henoch-Schonlein purpura
- Heparane sulfamidase deficiency
- Heparin-induced thrombocytopenia
- Hepatic cystic hamartoma
- Hepatic encephalopathy
- Hepatic lipase deficiency
- Hepatic venoocclusive disease with immunodeficiency
- Hepatic veno-occlusive disease
- Hepatitis D
- Hepatitis E
- Hepatoblastoma
- Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
- Hepatoerythropoietic porphyria
- Hepatopulmonary syndrome
- Hepatorenal syndrome
- Hereditary alpha tryptasemia syndrome
- Hereditary amyloidosis
- Hereditary angioedema
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary antithrombin deficiency
- Hereditary antithrombin deficiency type I
- Hereditary antithrombin deficiency type 2
- Hereditary ataxia
- Hereditary cerebral hemorrhage with amyloidosis
- Hereditary congenital facial paresis
- Hereditary continuous muscle fiber activity
- Hereditary coproporphyria
- Hereditary diffuse gastric cancer
- Hereditary diffuse leukoencephalopathy with spheroids
- Hereditary elliptocytosis
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- Hereditary geniospasm
- Hereditary hemorrhagic telangiectasia
- Hereditary hemorrhagic telangiectasia type 2
- Hereditary hemorrhagic telangiectasia type 3
- Hereditary hemorrhagic telangiectasia type 4
- Hereditary hyperekplexia
- Hereditary keratitis
- Hereditary koilonychia
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary lymphedema type II
- Hereditary melanoma
- Hereditary methemoglobinemia
- Hereditary motor and sensory neuropathy type 5
- Hereditary mucoepithelial dysplasia
- Hereditary multiple osteochondromas
- Hereditary neuralgic amyotrophy
- Hereditary neuropathy with liability to pressure palsies
- Hereditary nodular heterotopia
- Hereditary pancreatitis
- Hereditary paraganglioma-pheochromocytoma
- Hereditary proximal myopathy with early respiratory failure
- Hereditary renal cell carcinoma
- Hereditary resistance to anti-vitamin K
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy
- Hereditary sensory and autonomic neuropathy type V
- Hereditary sensory and autonomic neuropathy type 1E
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 7
- Hereditary sensory neuropathy type 1
- Hereditary spastic paraplegia
- Hereditary spherocytosis
- Hereditary vascular retinopathy
- Hermansky Pudlak syndrome 2
- Hermansky-Pudlak syndrome
- Hernández-Aguirre Negrete syndrome
- Herpesvirus simiae B virus infection
- Herpes simiae (B virus)
- Herpes simplex encephalitis
- Herpes virus antenatal infection
- Herpes zoster ophthalmicus
- Herpes zoster oticus
- Herrmann Opitz craniosynostosis
- Herrmann syndrome
- Hersh Podruch Weisskopk syndrome
- Heterochromia iridis
- Heterotaxy
- HHV-6 encephalitis
- HIBCH deficiency
- Hidradenitis suppurativa
- Hidradenocarcinoma
- High molecular weight kininogen deficiency
- Hip subluxation
- Hirschsprung disease
- Hirschsprung disease ganglioneuroblastoma
- Hirschsprung disease type d brachydactyly
- Hirschsprung disease type 2
- Hirschsprung disease type 3
- Hirschsprung nail hypoplasia dysmorphism
- Histidinemia
- Histidinuria renal tubular defect
- Histiocytosis-lymphadenopathy plus syndrome
- His bundle tachycardia
- HIVEP2-related intellectual disability
- HMG CoA lyase deficiency
- HMG CoA synthetase deficiency
- Hodgkin disease, X-linked pseudoautosomal
- Hodgkin lymphoma
- Holoacardius amorphus
- Holocarboxylase synthetase deficiency
- Holoprosencephaly
- Holoprosencephaly ectrodactyly cleft lip palate
- Holoprosencephaly, recurrent infections, and monocytosis
- Holt-Oram syndrome
- Holzgreve syndrome
- Homocarnosinosis
- Homocysteinemia
- Homocystinuria
- Homocystinuria due to CBS deficiency
- Homocystinuria due to defect in methylation cbl e
- Homocystinuria due to defect in methylation cbl g
- Homocystinuria due to MTHFR deficiency
- Homologous wasting disease
- Hooft disease
- Hordnes Engebretsen Knudtson syndrome
- Horizontal gaze palsy with progressive scoliosis
- Horner’s syndrome
- Horn Kolb syndrome
- Horseshoe kidney
- Hoyeraal Hreidarsson syndrome
- Ho Kaufman Mcalister syndrome
- HSD10 disease
- HTLV-1 associated myelopathy/tropical spastic paraparesis
- Human granulocytic ehrlichiosis
- Human HOXA1 Syndromes
- Human monocytic ehrlichiosis
- Human spumaretrovirus infection
- Human T-cell leukemia virus type 1
- Human T-cell leukemia virus type 2
- Human T-cell leukemia virus type 3
- Humeroradial synostosis
- Humeroradioulnar synostosis
- Hunter Mcdonald syndrome
- Hunter-McAlpine syndrome
- Huntington disease
- Hurler syndrome
- Hurler–Scheie syndrome
- Hurthle cell thyroid cancer
- Hutchinson incisors
- Hutterite cerebroosteonephrodysplasia syndrome
- Hyaline fibromatosis syndrome
- Hydatidiform mole
- Hydatidosis
- Hydranencephaly
- Hydroa vacciniforme
- Hydroa vacciniforme, familial
- Hydrocephalus autosomal recessive
- Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- Hydrocephalus obesity hypogonadism
- Hydrocephalus skeletal anomalies
- Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
- Hydrocephalus-cleft palate-joint contractures syndrome
- Hydrolethalus syndrome
- Hydrops fetalis
- Hydroxykynureninuria
- Hydroxyprolinemia
- Hygroma cervical
- Hymenolepiasis
- 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, familial or sporadic
- Hyperinsulinemic hypoglycemia familial 2
- Hyperinsulinemic hypoglycemia familial 3
- Hyperinsulinism due to glucokinase deficiency
- Hyperinsulinism due to glutamodehydrogenase deficiency
- Hyperinsulinism, diffuse
- 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 corticalis generalisata
- 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
- Hyperthermia induced defects
- Hypertrichosis lanuginosa congenita
- Hypertrichosis lanuginosa, acquired
- Hypertrichosis universalis
- Hypertrophic branchial myopathy
- Hypertrophic neuropathy of Dejerine-Sottas
- Hypertrophic olivary degeneration
- Hypertryptophanemia
- Hyper IgE syndrome
- Hyper-IgD syndrome
- Hypnic headache
- Hypoaldosteronism
- Hypocalcemia, autosomal dominant
- Hypochondroplasia
- Hypochromic microcytic anemia with iron overload
- Hypocomplementemic urticarial vasculitis
- Hypodermyasis
- Hypodontia, X-linked
- Hypofibrinogenemia, familial
- Hypoganglionosis
- Hypoglycemia with deficiency of glycogen synthetase in the liver
- Hypogonadism primary partial alopecia
- Hypogonadism, isolated, hypogonadotropic
- Hypohidrotic ectodermal dysplasia
- Hypohidrotic ectodermal dysplasia autosomal dominant
- Hypohidrotic ectodermal dysplasia autosomal recessive
- Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
- Hypohidrotic ectodermal dysplasia with immune deficiency
- Hypokalemic periodic paralysis
- Hypolipoproteinemia
- Hypomandibular faciocranial dysostosis
- Hypomelanosis of Ito
- Hypomelanotic disorder
- Hypomelia mullerian duct anomalies
- Hypomyelination and congenital cataract
- Hypomyelination with atrophy of basal ganglia and cerebellum
- Hypoparathyroidism
- Hypoparathyroidism X-linked
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
- Hypopharyngeal cancer
- Hypophosphatasia
- Hypophosphatemic rickets
- Hypopituitarism
- Hypoplasia of the tibia with polydactyly
- Hypoplastic left heart syndrome
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- Hypoplastic right heart syndrome
- Hypospadias familial
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Hypotelorism cleft palate hypospadias
- Hypothalamic hamartomas
- Hypothalamic obesity
- Hypothyroidism due to iodide transport defect
- Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
- Hypotrichosis simplex
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Hypoxanthine guanine phosphoribosyltransferase deficiency
I
- ICF syndrome
- Ichthyosiform erythroderma, corneal involvement, deafness
- Ichthyosis alopecia eclabion ectropion intellectual disability
- Ichthyosis bullosa of Siemens
- Ichthyosis cheek eyebrow syndrome
- Ichthyosis congenita biliary atresia
- Ichthyosis follicularis atrichia photophobia syndrome
- Ichthyosis hystrix, Curth Macklin type
- Ichthyosis lamellar 1
- Ichthyosis lamellar 2
- Ichthyosis lamellar 3
- Ichthyosis lamellar, autosomal dominant
- Ichthyosis linearis circumflexa
- Ichthyosis prematurity syndrome
- Ichthyosis tapered fingers midline groove up
- Ichthyosis vulgaris
- Ichthyosis with hypotrichosis, autosomal recessive
- Ichthyosis, acquired
- Ichthyosis, follicular
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- Ichthyosis-intellectual disability-dwarfism-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 edema
- Idiopathic hypersomnia
- Idiopathic hypertrophic pachymeningitis
- Idiopathic inflammatory myopathy
- Idiopathic intracranial hypertension
- Idiopathic neutropenia
- Idiopathic pulmonary fibrosis
- Idiopathic pulmonary hemosiderosis
- Idiopathic spinal cord herniation
- Idiopathic subglottic tracheal stenosis
- Idiopathic thrombocytopenic purpura
- IgA nephropathy
- IgG4-related dacryoadenitis and sialadenitis
- IgG4-related disease
- Iida Kannari syndrome
- IL12RB1 deficiency
- IMAGe syndrome
- Imerslund-Grasbeck syndrome
- Iminoglycinuria
- Immotile cilia syndrome, due to defective radial spokes
- Immune defect due to absence of thymus
- Immune deficiency, familial variable
- Immune dysfunction with T-cell inactivation due to calcium entry defect 1
- Immune dysfunction with T-cell inactivation due to calcium entry defect 2
- Immune thrombocytopenia
- Immune thrombocytopenic purpura
- Immunodeficiency without anhidrotic ectodermal dysplasia
- 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 with thymoma
- Immunodysregulation, polyendocrinopathy and enteropathy X-linked
- Immunoglobulin A deficiency 2
- Immunoglobulin G deficiency
- Immunotactoid glomerulopathy
- Immunotactoid or fibrillary glomerulopathy
- Impairment of oral perception
- Imperforate anus
- Imperforate oropharynx-costo vetebral anomalies
- Inborn amino acid metabolism disorder
- Inborn renal aminoaciduria
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Inclusion body myopathy 2
- Inclusion body myopathy 3
- Inclusion body myositis
- Inclusion conjunctivitis
- Incontinentia pigmenti
- Indolent B cell lymphoma
- Infantile apnea
- Infantile axonal neuropathy
- Infantile cerebellar retinal degeneration
- Infantile choroidocerebral calcification syndrome
- Infantile digital fibromatosis
- Infantile histiocytoid cardiomyopathy
- Infantile liver failure syndrome 1
- Infantile liver failure syndrome 2
- Infantile myofibromatosis
- Infantile neuroaxonal dystrophy
- Infantile neuronal ceroid lipofuscinosis
- Infantile onset spinocerebellar ataxia
- Infantile scoliosis
- Infantile spasms broad thumbs
- Infantile striato thalamic degeneration
- Infantile-onset ascending hereditary spastic paralysis
- Infant epilepsy with migrant focal crisis
- Infection-induced acute encephalopathy 3
- Infectious arthritis
- Infectious myocarditis
- Infective endocarditis
- Infective myositis
- Inflammatory breast cancer
- Inflammatory linear verrucous epidermal nevus
- Inflammatory myofibroblastic tumor
- Infundibulopelvic dysgenesis
- Inherited bone marrow failure syndromes
- Iniencephaly
- Insulinoma
- Insulin autoimmune syndrome
- Insulin-like growth factor I deficiency
- Insulin-like growth factor 1 resistance to
- Insulin-resistance type B
- Insulin-resistant acanthosis nigricans, type A
- Intellectual deficit Buenos-Aires type
- Intellectual deficit short stature hypertelorism
- 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
- Internal carotid agenesis
- Interstitial cystitis
- Interstitial lung disease
- Intervertebral disc disease
- Intestinal atresia multiple
- Intestinal lymphangiectasia
- Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
- Intestinal pseudo-obstruction
- Intracranial arteriovenous malformation
- Intrahepatic cholangiocarcinoma
- Intrahepatic cholestasis of pregnancy
- Intraneural perineurioma
- Intraocular melanoma
- Intrauterine growth retardation with increased mitomycin C sensitivity
- Intravascular papillary endothelial hyperplasia
- Intravenous leiomyomatosis
- Intrinsic factor deficiency
- Iodine antenatal exposure
- IQSEC2
- IRAK-4 deficiency
- IRF2BPL-related disorders
- IRF6-Related disorders
- Iridocorneal endothelial syndrome
- Iridogoniodysgenesis and skeletal anomalies
- Iridogoniodysgenesis type 1
- Iridogoniodysgenesis type 2
- Iris hypoplasia and glaucoma
- Irons Bhan syndrome
- Iron-refractory iron deficiency anemia
- IRVAN syndrome
- Isaacs’ syndrome
- Isobutyryl-CoA dehydrogenase deficiency
- Isochromosome Yp
- Isodicentric chromosome 15 syndrome
- Isolated ACTH deficiency
- Isolated anterior cervical hypertrichosis
- Isolated congenital megalocornea
- Isolated ectopia lentis
- Isolated growth hormone deficiency
- Isolated growth hormone deficiency type 1A
- Isolated growth hormone deficiency type 1B
- Isolated growth hormone deficiency type 2
- Isolated growth hormone deficiency type 3
- Isolated levocardia
- Isotretinoin embryopathy like syndrome
- Isovaleric acidemia
- ITCH E3 ubiquitin ligase deficiency
- Ivemark syndrome
- IVIC syndrome
- I cell disease
J
- Jackhammer esophagus
- Jackson-Weiss syndrome
- Jacobsen syndrome
- Jaffer Beighton syndrome
- Jansen type metaphyseal chondrodysplasia
- Japanese encephalitis
- Jejunal atresia
- Jejunal atresia with renal adysplasia
- Jervell Lange-Nielsen syndrome
- Jeune syndrome
- Jeune syndrome situs inversus
- JMP syndrome
- Johanson-Blizzard syndrome
- Johnson Munson syndrome
- Johnson neuroectodermal syndrome
- Johnston Aarons Schelley syndrome
- Jones Hersh Yusk syndrome
- Jones syndrome
- Jorgenson Lenz syndrome
- Joubert syndrome
- Joubert syndrome with ocular anomalies
- Joubert syndrome with oculorenal anomalies
- Joubert syndrome with renal anomalies
- Joubert syndrome 2
- Juberg Marsidi syndrome
- Juberg-Hayward syndrome
- Judge Misch Wright syndrome
- Jumping Frenchmen of Maine
- Junctional epidermolysis bullosa
- Jung Wolff Back Stahl syndrome
- Juvenile amyotrophic lateral sclerosis
- Juvenile dermatomyositis
- Juvenile Huntington disease
- Juvenile idiopathic arthritis
- Juvenile macular degeneration and hypotrichosis
- Juvenile myelomonocytic leukemia
- Juvenile myoclonic epilepsy
- Juvenile ossifying fibroma
- Juvenile osteoporosis
- Juvenile Paget disease
- Juvenile polymyositis
- Juvenile polyposis syndrome
- Juvenile primary lateral sclerosis
- Juvenile retinoschisis
- Juvenile spondyloarthropathy
- Juvenile temporal arteritis
- Juvenile-onset dystonia
- Juvenile-onset small-fiber polyneuropathy
K
- Kabuki syndrome
- Kallikrein hypertension
- Kallmann syndrome
- Kallmann syndrome 1
- Kallmann syndrome 2
- Kallmann syndrome 3
- Kallmann syndrome 4
- Kallmann syndrome 5
- Kallmann syndrome 6
- Kanzaki disease
- Kaolin pneumoconiosis
- Kaplan Plauchu Fitch syndrome
- Kaposiform Hemangioendothelioma
- Kaposiform lymphangiomatosis
- Kaposi sarcoma
- Kapur Toriello syndrome
- Karak syndrome
- Karandikar Maria Kamble syndrome
- Kartagener syndrome
- Karyomegalic interstitial nephritis
- Kashani Strom Utley syndrome
- Kasznica Carlson Coppedge syndrome
- Katsantoni Papadakou Lagoyanni syndrome
- Kaufman oculocerebrofacial syndrome
- Kawasaki disease
- KBG syndrome
- KCNQ2-Related Disorders
- Kearns-Sayre syndrome
- Kennedy disease
- Kenny-Caffey syndrome type 1
- Kenny-Caffey syndrome type 2
- Keratoconus
- Keratoconus posticus circumscriptus
- Keratoderma palmoplantaris transgrediens
- Keratoderma palmoplantar deafness
- Keratoderma palmoplantar spastic paralysis
- Keratolytic winter erythema
- Keratomalacia
- Keratosis follicularis dwarfism and cerebral atrophy
- Keratosis follicularis spinulosa decalvans
- Keratosis palmoplantaris striata 1
- Keratosis palmoplantaris striata 3
- Kerion celsi
- Kernicterus
- Keshan disease
- Keutel syndrome
- KID syndrome
- Kienbock’s disease
- Kifafa seizure disorder
- Kikuchi disease
- Kimura disease
- Kindler syndrome
- Kingella infections
- King Denborough syndrome
- Klatskin tumor
- Klebsiella infection
- Kleeblattschaedel syndrome
- Kleefstra syndrome
- Kleiner Holmes syndrome
- Kleine Levin syndrome
- Klinefelter syndrome
- Klippel Feil syndrome
- Klippel-Trenaunay syndrome
- Klumpke paralysis
- Kluver Bucy syndrome
- Kniest dysplasia
- Kniest like dysplasia lethal
- Kniest-like dysplasia with pursed lips and ectopia lentis
- Knobloch syndrome
- Knuckle pads, leuconychia and sensorineural deafness
- Kocher-Debre-Semelaigne syndrome
- Kohler disease
- Kohlschutter Tonz syndrome
- Koolen de Vries syndrome
- Koone Rizzo Elias syndrome
- Koro
- Kosztolanyi syndrome
- Kotzot-Richter syndrome
- Kousseff Nichols syndrome
- Kowarski syndrome
- Kozlowski Brown Hardwick syndrome
- Kozlowski Ouvrier syndrome
- Kozlowski Rafinski Klicharska syndrome
- Kozlowski Warren Fisher syndrome
- Kozlowski-Krajewska syndrome
- Krabbe disease
- Krabbe disease atypical due to Saposin A deficiency
- Krauss Herman Holmes syndrome
- Krieble Bixler syndrome
- Krukenberg carcinoma
- KSHV inflammatory cytokine syndrome
- Kuru
- Kuskokwim disease
- Kuster syndrome
- Kuzniecky Andermann syndrome
- Kyasanur Forest disease
- Kyphomelic dysplasia
- Kyphoscoliotic Ehlers-Danlos syndrome
- Kyrle disease
L
- Laband syndrome
- Labrador lung
- Lachiewicz Sibley syndrome
- Lacrimo-auriculo-dento-digital syndrome
- Lactate dehydrogenase A deficiency
- Lactate dehydrogenase B deficiency
- Lactate dehydrogenase deficiency
- Lactic acidosis congenital infantile
- Lactobezoar
- Lafora disease
- Laing distal myopathy
- Lambdoid synostosis
- Lambert Eaton myasthenic syndrome
- Lambert syndrome
- Lamellar ichthyosis
- Landau-Kleffner syndrome
- Landy-Donnai syndrome
- Langerhans cell histiocytosis
- Langerhans cell sarcoma
- Langer mesomelic dysplasia
- Langer Nishino Yamaguchi syndrome
- Laron syndrome
- Larsen syndrome
- Larsen-like syndrome
- Laryngeal cancer
- Laryngeal cleft
- Laryngeal papillomatosis
- Laryngocele
- Laryngomalacia
- Larynx atresia
- Larynx, congenital partial atresia of
- Laterality defects dominant
- Lateral meningocele syndrome
- Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-Onset Familial Alzheimer Disease
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
- Late-onset retinal degeneration
- Lathosterolosis
- Lathyrism
- Lattice corneal dystrophy type 1
- Lattice corneal dystrophy type 3A
- Laugier-Hunziker syndrome
- Laurence-Moon syndrome
- Laurin-Sandrow syndrome
- La Crosse encephalitis
- LCAD deficiency
- LCHAD deficiency
- Leber congenital amaurosis
- Leber hereditary optic neuropathy
- Leber hereditary optic neuropathy with dystonia
- Ledderhose disease
- Left ventricular noncompaction
- Left-sided gallbladder
- Legg-Calve-Perthes disease
- Legionnaires’ disease
- Legius syndrome
- Leg absence deformity cataract
- Leigh syndrome
- Leigh syndrome, French Canadian type
- Leiner disease
- Leiomyomatosis of esophagus, cataract and hematuria
- Leiomyomatosis, esophageal and vulval, with nephropathy
- Leiomyoma of vulva and esophagus
- Leiomyosarcoma
- Leishmaniasis
- Lelis syndrome
- Lemierre syndrome
- Lennox-Gastaut syndrome
- Lentigo maligna melanoma
- Lenz Majewski hyperostotic dwarfism
- Lenz microphthalmia syndrome
- LEOPARD syndrome
- Leprechaunism
- Leptospirosis
- Leri pleonosteosis
- Leri Weill dyschondrosteosis
- Lesch Nyhan syndrome
- Lethal chondrodysplasia Moerman type
- Lethal chondrodysplasia Seller type
- Lethal congenital contracture syndrome
- Lethal congenital contracture syndrome 1
- Lethal congenital contracture syndrome 11
- Lethal congenital contracture syndrome 2
- Lethal congenital contracture syndrome 4
- Lethal congenital glycogen storage disease of the heart
- Lethal recessive chondrodysplasia
- Lethal short limb skeletal dysplasia Al Gazali type
- Leucine-sensitive hypoglycemia of infancy
- Leukemia subleukemic
- Leukemia, T-cell, chronic
- Leukocyte adhesion deficiency type 1
- Leukodystrophy
- Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
- Leukodystrophy, hypomyelinating 3
- 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
- Leukoencephalopathy-spondylometaphyseal dysplasia syndrome
- Leukonychia totalis
- Leukoplakia
- Levator syndrome
- Levic Stefanovic Nikolic syndrome
- Levotransposition of the great arteries
- Lewis-Sumner syndrome
- Lewy body dementia
- Leydig cell hypoplasia
- Le Marec Bracq Picaud syndrome
- Lhermitte-Duclos disease
- Lichen planopilaris
- Lichen planus pemphigoides
- Lichen planus pigmentosus
- Lichen sclerosus
- Lichtenstein syndrome
- Liddle syndrome
- Light chain deposition disease
- Ligneous conjunctivitis
- Limbic encephalitis
- Limbic encephalitis with LGI1 antibodies
- Limb deficiencies distal with micrognathia
- 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
- Limb-mammary syndrome
- Limited cutaneous systemic sclerosis
- Limited systemic sclerosis
- Linear and whorled nevoid hypermelanosis
- Linear hamartoma syndrome
- Linear IgA disease
- Linear lichen planus
- Linear nevus sebaceous syndrome
- Linear porokeratosis
- Linear scleroderma
- Lin-Gettig syndrome
- Lipase deficiency combined
- Lipedema
- 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
- Lip and oral cavity cancer
- Lissencephaly
- Lissencephaly X-linked
- Lissencephaly 1
- Lissencephaly 2
- Listeria infection
- Littoral cell angioma of the spleen
- Livedoid vasculopathy
- Li-Fraumeni syndrome
- Localized hypertrophic neuropathy
- Localized lipodystrophy
- Localized scleroderma
- Locked-in syndrome
- Loeys-Dietz syndrome
- Loeys-Dietz syndrome type 1
- Loeys-Dietz syndrome type 2
- Loeys-Dietz syndrome type 3
- Loeys-Dietz syndrome type 4
- Logopenic progressive aphasia
- Loiasis
- Loin pain hematuria syndrome
- Long QT syndrome
- Long QT syndrome 1
- Long QT syndrome 10
- Long QT syndrome 11
- Long QT syndrome 2
- Long QT syndrome 3
- Long QT syndrome 4
- Long QT syndrome 5
- Long QT syndrome 6
- Long QT syndrome 9
- Loose anagen hair syndrome
- Lopes Gorlin syndrome
- Lower mesodermal defects sequence
- Lowe oculocerebrorenal syndrome
- Lowry Maclean syndrome
- Lowry Wood syndrome
- LRBA deficiency
- Lubani Al Saleh Teebi syndrome
- Lubinsky syndrome
- Lucey-Driscoll syndrome
- Lujan syndrome
- Lung adenocarcinoma
- Lung agenesis
- Lupus
- Lupus erythematosus tumidus
- Lupus nephritis
- Lyme disease
- Lymphangiectasis
- Lymphangioleiomyomatosis
- Lymphangiomatosis
- Lymphatic filariasis
- Lymphatic malformations
- Lymphedema and cerebral arteriovenous anomaly
- Lymphedema, microcephaly and chorioretinopathy syndrome
- Lymphedema-distichiasis syndrome
- Lymphoblastic lymphoma
- Lymphocytic colitis
- Lymphocytic hypophysitis
- Lymphocytic infiltrate of Jessner
- Lymphocytic vasculitis
- Lymphogranuloma venereum
- Lymphomatoid granulomatosis
- Lymphomatoid papulosis
- Lymphomatous thyroiditis
- Lymphoma AIDS related
- Lymphoma, large-cell, immunoblastic
- Lymphosarcoma
- Lymph Node Neoplasm
- Lynch syndrome
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- L-arginine:glycine amidinotransferase deficiency
- L-2-hydroxyglutaric aciduria
- L1 syndrome
M
- Macrocephaly, benign familial
- Macrocephaly-short stature-paraplegia syndrome
- Macrodactyly of fingers
- Macrodactyly of toes
- Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- Macroglossia
- Macrophage activation syndrome
- Macrophagic myofasciitis
- Macrosomia with lethal microphthalmia
- Macrothrombocytopenia progressive deafness
- Macrozoospermia
- Macular degeneration
- Macular dystrophy, atypical vitelliform
- Macular dystrophy, concentric annular
- Macular dystrophy, corneal type 1
- Macular telangiectasia type 2
- Macules hereditary congenital hypopigmented and hyperpigmented
- Maculopapular cutaneous mastocytosis
- Mac Dermot Winter syndrome
- Madelung deformity
- Madokoro Ohdo Sonoda syndrome
- Madras motor neuron disease
- Maffucci syndrome
- MAGIC syndrome
- Mahvash disease
- Majeed syndrome
- Malakoplakia
- Malaria
- Male infertility with spermatogenesis disorder due to single gene mutation
- Male infertility with teratozoospermia due to single gene mutation
- Male pseudohermaphroditism due to defective LH molecule
- Male pseudohermaphroditism intellectual disability syndrome, Verloes type
- Malignant Atrophic Papulosis
- Malignant cylindroma
- Malignant eccrine spiradenoma
- Malignant ectomesenchymoma
- Malignant germ cell tumor
- Malignant hyperthermia
- Malignant hyperthermia arthrogryposis torticollis
- Malignant melanoma, childhood
- Malignant mesenchymoma
- Malignant mesothelioma
- Malignant migrating partial seizures of infancy
- Malignant mixed Mullerian tumor
- Malignant peripheral nerve sheath tumor
- Malignant Teratocarcinosarcoma
- Mallory-Weiss syndrome
- Malonyl-CoA decarboxylase deficiency
- Mal de debarquement syndrome
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis with microcephaly
- Manitoba oculotrichoanal syndrome
- Mannose-binding lectin protein deficiency
- Mannosidosis, beta A, lysosomal
- Manouvrier syndrome
- Mansonelliasis
- Mantle cell lymphoma
- MAN1B1-CDG
- Maple syrup urine disease
- Marburg hemorrhagic fever
- Marchiafava Bignami disease
- Marcus Gunn phenomenon
- Marden-Walker syndrome
- Marek disease
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid hypermobility syndrome
- Marfan syndrome
- Marginal glioneuronal heterotopia
- Marginal zone lymphoma
- Marie Unna congenital hypotrichosis
- Marinesco-Sjogren syndrome
- Marinesco-Sjogren-like syndrome (MSLS)
- Markel Vikkula Mulliken syndrome
- Maroteaux Stanescu Cousin syndrome
- Marphanoid syndrome type De Silva
- Marshall syndrome
- Marshall-Smith syndrome
- Martsolf syndrome
- Massa Casaer Ceulemans syndrome
- MASS phenotype
- Mastocytic enterocolitis
- Mastocytosis
- Mastocytosis cutaneous with short stature conductive hearing loss and microtia
- Mast cell activation syndrome
- Maternally inherited diabetes and deafness
- Maternal hyperphenylalaninemia
- Maturity-onset diabetes of the young
- Maxillofacial dysostosis
- Maxillonasal dysplasia, Binder type
- May-Thurner syndrome
- MBD25–related intellectual disability
- McCune-Albright syndrome
- McDonough syndrome
- McDowall syndrome
- McGillivray syndrome
- McKusick Kaufman syndrome
- McLeod neuroacanthocytosis syndrome
- McPherson Clemens syndrome
- McPherson Robertson Cammarano syndrome
- Meacham Winn Culler syndrome
- Measles
- Meckel syndrome
- Meckel syndrome type 2
- Meckel syndrome type 3
- Meconium aspiration syndrome
- MECP2 duplication syndrome
- Medeira-Dennis-Donnai syndrome
- Medial Medullary Syndrome
- Median arcuate ligament syndrome
- Median cleft of upper lip with polyps of facial skin and nasal mucosa
- Median nodule of the upper lip
- Mediastinal endodermal sinus tumors
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medium-chain 3-ketoacyl-coa thiolase deficiency
- Medrano Roldan syndrome
- Medullary sponge kidney
- Medulloblastoma
- Medulloblastoma, childhood
- MED13L haploinsufficiency syndrome
- MED23
- Meesmann corneal dystrophy
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megaduodenum and/or megacystis
- Megaepiphyseal dwarfism
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly-capillary malformation syndrome
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megalocornea spherophakia secondary glaucoma
- Megalocornea-intellectual disability syndrome
- Megalocytic interstitial nephritis
- Megarbane Jalkh syndrome
- Megarbane syndrome
- MEGDEL syndrome
- Mehes syndrome
- MEHMO syndrome
- Mehta Lewis Patton syndrome
- Meier Blumberg Imahorn syndrome
- Meier-Gorlin syndrome
- Meigel disease
- Meige syndrome
- Melanocytic lesions of CNS
- Melanoma astrocytoma syndrome
- Melanoma-associated retinopathy
- Meleda disease
- Melhem Fahl syndrome
- Melioidosis
- Melkersson-Rosenthal syndrome
- Melnick-Needles syndrome
- Melorheostosis
- Melorheostosis with osteopoikilosis
- Membranoproliferative glomerulonephritis
- Membranous nephropathy
- Mendelian susceptibility to mycobacterial diseases
- Menetrier disease
- Ménière’s disease
- Meningioma
- Meningocele
- Meningococcal infection
- Meningococcemia
- Meningoencephalocele
- Menkes disease
- MEPAN syndrome
- Meralgia paresthetica
- Mercury poisoning
- Merkel cell carcinoma
- Mesangial proliferative glomerulonephritis
- Mesangioproliferative glomerulopathy
- Mesomelia
- Mesomelia-synostoses syndrome
- 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
- Metachondromatosis
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy due to saposin B deficiency
- Metagonimiasis
- 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 insulinoma
- Metastatic squamous neck cancer with occult primary
- Metatarsus adductus
- Metatropic dysplasia
- Methemoglobinemia, beta-globin type
- Methimazole antenatal exposure
- Methionine adenosyltransferase deficiency
- Methylcobalamin deficiency cbl G type
- Methylmalonic acidemia
- Methylmalonic acidemia with homocystinuria
- Methylmalonyl-Coenzyme A mutase deficiency
- Mevalonic aciduria
- MGAT2-CDG (CDG-IIa)
- MHC class 1 deficiency
- 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 microcornea syndrome Seemanova type
- Microcephaly micropenis convulsions
- Microcephaly microphthalmos blindness
- Microcephaly nonsyndromal
- 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
- Microcornea corectopia macular hypoplasia
- Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
- Microcornea, glaucoma, and absent frontal sinuses
- Microcystic adnexal carcinoma
- Microcystic lymphatic malformation
- Microdontia hypodontia short stature
- Microduplication Xp11.22-p11.23 syndrome
- Microencephaly
- Microgastria limb reduction defect
- Microhydranencephaly
- Microphthalmia
- Microphthalmia associated with colobomatous cyst
- Microphthalmia microtia fetal akinesia
- Microphthalmia syndromic 10
- Microphthalmia syndromic 4
- Microphthalmia syndromic 5
- Microphthalmia syndromic 6
- Microphthalmia syndromic 8
- Microphthalmia syndromic 9
- Microphthalmia with cataract 1
- Microphthalmia with linear skin defects syndrome
- Microscopic polyangiitis
- Microsomia hemifacial radial defects
- Microspherophakia with hernia
- Microsporidiosis
- Microtia eye coloboma and imperforation of the nasolacrimal duct
- Microtia, meatal atresia and conductive deafness
- Microtia-Anotia
- Microvillus inclusion disease
- Micro syndrome
- Midline cleft of lower lip
- Midline lethal granuloma
- Midphalangeal hair
- Mietens-Weber syndrome
- Migraine with brainstem aura
- Mild phenylketonuria
- Miller syndrome
- Miller-Dieker syndrome
- Miller-Fisher syndrome
- Milner Khallouf Gibson syndrome
- Milroy disease
- Minicore myopathy with external ophthalmoplegia
- Minicore myopathy, antenatal onset, with arthrogryposis
- Minimal change disease
- MIRAGE syndrome
- Mirizzi syndrome
- Mirror polydactyly segmentation and limbs defects
- Misophonia
- Mitochondrial complex III deficiency
- Mitochondrial complex II deficiency
- Mitochondrial complex I deficiency
- Mitochondrial complex V deficiency
- Mitochondrial DNA depletion syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- Mitochondrial genetic disorders
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Mitochondrial myopathy and sideroblastic anemia
- Mitochondrial myopathy with diabetes
- Mitochondrial myopathy with lactic acidosis
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- Mitochondrial trifunctional protein deficiency
- Mitral atresia
- Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
- Mitral valve prolapse, familial, autosomal dominant
- Mitral valve prolapse, familial, X-linked
- Mixed connective tissue disease
- Miyoshi myopathy
- Moebius axonal neuropathy hypogonadism
- Moebius syndrome
- MOGS-CDG (CDG-IIb)
- Mohr-Tranebjaerg syndrome
- Mollaret meningitis
- Moloney syndrome
- Molybdenum cofactor deficiency
- MOMO syndrome
- Mondini dysplasia
- Mondor disease
- Monilethrix
- Monkeypox
- Monoamine oxidase A deficiency
- Monoclonal gammopathy of undetermined significance
- Monoclonal mast cell activation syndrome
- Monogenic diabetes
- Monomelic amyotrophy
- Mononeuritis multiplex
- Morgagni-Stewart-Morel syndrome
- Morgellons
- MORM syndrome
- Morning glory syndrome
- Morphea
- Morquio syndrome B
- Morse-Rawnsley-Sargent syndrome
- Morvan’s fibrillary chorea
- Mosaic monosomy 18
- Mosaic monosomy 22
- Mosaic trisomy 13
- Mosaic trisomy 14
- Mosaic trisomy 22
- Mosaic trisomy 6
- Mosaic trisomy 7
- Mosaic trisomy 8
- Mosaic trisomy 9
- Mosaic variegated aneuploidy syndrome
- Mounier-Kuhn syndrome
- Mousa Al din Al Nassar syndrome
- Mowat-Wilson syndrome
- Moyamoya disease
- MPDU1-CDG (CDG-If)
- MPI-CDG (CDG-Ib)
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- MSBD syndrome
- MTHFR gene variant
- Muckle-Wells 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
- Mucormycosis
- Mucous membrane pemphigoid
- Muenke Syndrome
- Muir-Torre syndrome
- Mulibrey Nanism
- Mullerian aplasia
- Muller Barth Menger syndrome
- Multicentric carpotarsal osteolysis syndrome
- Multicentric Castleman Disease
- Multicentric osteolysis, nodulosis and arthropathy
- Multicentric reticulohistiocytosis
- Multicore disease
- Multicystic renal dysplasia, bilateral
- Multifocal choroiditis
- Multifocal fibrosclerosis
- Multifocal lymphangioendotheliomatosis with thrombocytopenia
- Multifocal motor neuropathy
- Multiple café-au-lait spots
- Multiple carboxylase deficiency
- Multiple congenital anomalies-hypotonia-seizures syndrome
- 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 fibrofolliculoma familial
- Multiple mitochondrial dysfunctions syndrome
- Multiple myeloma
- Multiple pterygium syndrome Escobar type
- Multiple pterygium syndrome lethal type
- Multiple pterygium syndrome X-linked
- Multiple sclerosis
- Multiple self healing squamous epithelioma
- Multiple sulfatase deficiency
- Multiple symmetric lipomatosis
- Multiple synostoses syndrome 1
- Multiple synostoses syndrome 2
- Multiple system atrophy
- Multisystemic smooth muscle dysfunction syndrome
- Mumps
- Munchausen by proxy syndrome
- Mungan syndrome
- MURCS association
- Muscle eye brain disease
- Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
- Muscular dystrophy
- Muscular dystrophy limb girdle type 2A, Erb type
- Muscular dystrophy white matter spongiosis
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism
- Muscular dystrophy, congenital, megaconial type
- Muscular dystrophy, congenital, merosin-positive
- Muscular fibrosis multifocal obstructed vessels
- Muscular phosphorylase kinase deficiency
- Musculocontractural Ehlers-Danlos syndrome
- Mutagen sensitivity
- Myalgic encephalomyelitis/chronic fatigue syndrome
- Myasthenia gravis
- Myasthenia gravis, limb-girdle
- Mycetoma
- Mycobacterium Abscessus
- Mycobacterium Avium Complex infections
- Mycobacterium Chelonae
- Mycobacterium fortuitum
- Mycobacterium Gordonae
- Mycobacterium Kansasii
- Mycobacterium Malmoense
- Mycobacterium Marinum
- Mycobacterium Xenopi
- Mycoplasmal pneumonia
- Mycosis fungoides
- MYD88 deficiency
- Myelitis
- Myelocerebellar disorder
- Myelocytic leukemia-like syndrome, familial, chronic
- Myelodysplastic syndromes
- Myelodysplastic Syndrome With Excess Blasts
- Myelodysplastic syndrome with single lineage dysplasia
- Myelodysplastic/myeloproliferative disease
- Myeloid leukemia
- Myeloid sarcoma
- Myeloid splenomegaly
- Myelomeningocele
- Myeloperoxidase deficiency
- Myhre syndrome
- MYH-associated polyposis
- MYH7-related scapuloperoneal myopathy
- MYH9 related thrombocytopenia
- Myocarditis
- Myoclonic epilepsy with ragged red fibers
- Myoclonus cerebellar ataxia deafness
- Myoclonus epilepsy
- Myoclonus epilepsy partial seizure
- Myoclonus-dystonia
- Myoepithelial carcinoma
- Myofibrillar myopathy
- Myoglobinuria recurrent
- Myokymia with neonatal epilepsy
- Myopathic carnitine deficiency
- Myopathy congenital
- Myopathy with extrapyramidal signs
- Myopathy, limb-girdle, with bone fragility
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- Myopia 6
- Myosin storage myopathy
- Myostatin-related muscle hypertrophy
- Myotonia congenita
- Myotonic dystrophy
- Myotonic dystrophy type 1
- Myotonic dystrophy type 2
- Myxoid liposarcoma
- Myxopapillary ependymoma
- Myxozoa
N
- Nablus mask-like facial syndrome
- NADH cytochrome B5 reductase deficiency
- Naegeli syndrome
- Nager acrofacial dysostosis
- Naguib-Richieri-Costa syndrome
- Nail dysplasia, isolated congenital
- Nail-patella syndrome
- Nakajo Nishimura syndrome
- Nakajo syndrome
- Nance-Horan syndrome
- Narcolepsy
- Nasodigitoacoustic syndrome
- Nasopalpebral lipoma coloboma syndrome
- Nasopharyngeal carcinoma
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Nathalie syndrome
- Naxos disease
- NBIA/DYT/PARK-PLA2G6
- Necrobiosis lipoidica
- Necrobiotic xanthogranuloma
- Necrotizing autoimmune myopathy
- Necrotizing enterocolitis
- Necrotizing fasciitis
- Neisseria meningitidis infection
- Nelson syndrome
- Nemaline myopathy
- Neonatal adrenoleukodystrophy
- Neonatal hemochromatosis
- Neonatal herpes
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal meningitis
- Neonatal Onset Multisystem Inflammatory disease
- Neonatal ovarian cyst
- Neonatal progeroid syndrome
- Neonatal severe hyperparathyroidism
- Neonatal stroke
- Neonatal systemic lupus erythematosus
- Nephrocalcinosis
- Nephrogenic diabetes insipidus
- Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome
- Nephrogenic Systemic Fibrosis
- Nephronophthisis
- Nephropathy, deafness, and hyperparathyroidism
- Nephrosclerosis
- Nephrosis deafness urinary tract digital malformation
- Nephrotic syndrome ocular anomalies
- Nestor-guillermo progeria syndrome
- Netherton syndrome
- Neural crest tumor
- Neural tube defects
- Neuroacanthocytosis
- Neuroaxonal dystrophy renal tubular acidosis
- Neuroblastoma
- Neurocutaneous melanosis
- Neurodegeneration with brain iron accumulation
- Neurodevelopmental disorder with severe motor impairment and absent language
- Neuroectodermal endocrine syndrome
- Neuroendocrine carcinoma of the cervix
- Neuroendocrine tumor
- Neuroepithelioma
- Neurofaciodigitorenal syndrome
- Neuroferritinopathy
- Neurofibroma
- Neurofibromatosis
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Neurofibromatosis-Noonan syndrome
- Neurofibrosarcoma
- Neuroleptic malignant syndrome
- Neuroma biliary tract
- Neuromyelitis optica spectrum disorder
- Neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 2
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis 7
- Neuronal ceroid lipofuscinosis 9
- Neuronal interstitial dysplasia
- Neuronal intranuclear inclusion disease
- Neuropathy ataxia retinitis pigmentosa syndrome
- Neuropathy, congenital, with arthrogryposis multiplex
- Neuropathy, distal hereditary motor, Jerash type
- Neuropathy, hereditary motor and sensory, Okinawa type
- Neuropathy, hereditary motor and sensory, Russe type
- Neurosyphilis
- Neurotoxicity syndromes
- Neutral lipid storage disease with myopathy
- Neutropenia chronic familial
- Neutropenia lethal congenital with eosinophilia
- Neutrophil-specific granule deficiency
- Neu Laxova syndrome
- Nevi flammei, familial multiple
- Nevoid basal cell carcinoma syndrome
- Nevus comedonicus
- Nevus comedonicus syndrome
- Nevus mucinosis
- Nevus of Ito
- New daily-persistent headache
- New-onset refractory status epilepticus
- NF-kappa B Essential Modulator Deficiency
- Nguyen syndrome
- Nicolaides-Baraitser syndrome
- Niemann-Pick disease
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Nievergelt syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nijmegen breakage syndrome
- Nipah virus encephalitis
- Noble Bass Sherman syndrome
- Nocardiosis
- Nodding syndrome
- Nodular melanoma
- Nodular nonsuppurative panniculitis
- Nodular regenerative hyperplasia
- Noma
- Nonalcoholic steatohepatitis
- Nonbullous congenital ichthyosiform erythroderma
- Nondystrophic myotonia
- Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- Nonseminomatous germ cell tumor
- Nonspherocytic hemolytic anemia due to hexokinase deficiency
- Nonsyndromic hereditary sensorineural hearing loss
- Nontuberculous mycobacterial lung disease
- Non functioning pancreatic endocrine tumor
- Non 24 hour sleep wake disorder
- Non-A-E hepatitis
- Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Non-involuting congenital hemangioma
- Non-Langerhans-Cell Histiocytosis
- Non-lissencephalic cortical dysplasia
- Noonan syndrome
- Noonan-like syndrome with loose anagen hair
- Normophosphatemic familial tumoral calcinosis
- Norrie disease
- Northern epilepsy
- North Carolina macular dystrophy
- Notalgia paresthetica
- Not otherwise specified 3-MGA-uria type
- Nuclear gene-encoded Leigh syndrome
- Numeric sex chromosome variations
- Nystagmus 1, congenital, Xlinked
- Nystagmus 2, congenital, autosomal dominant
- Nystagmus 3, congenital, autosomal dominant
- Nystagmus 4, congenital, autosomal dominant
- Nystagmus, congenital motor, autosomal recessive
- Nystagmus, hereditary vertical
- Nystagmus, myoclonic
- N acetyltransferase deficiency
- N syndrome
- N-acetylglutamate synthase deficiency
- N-acetyl-alpha-D-galactosaminidase deficiency type III
O
- Obesity due to congenital leptin deficiency
- Occipital horn syndrome
- Ochoa syndrome
- Ochronosis
- Ocular albinism type 1
- Ocular cicatricial pemphigoid
- Ocular melanoma
- Ocular Muscular Dystrophy
- Ocular neuromyotonia
- Ocular toxoplasmosis
- Oculoauriculofrontonasal syndrome
- Oculocerebral hypopigmentation syndrome type Preus
- Oculocerebral syndrome with hypopigmentation
- Oculocerebrocutaneous syndrome
- Oculocutaneous albinism
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- Oculodentodigital dysplasia
- Oculodentodigital dysplasia dominant
- Oculodentoosseous dysplasia recessive
- Oculoectodermal syndrome
- Oculofaciocardiodental syndrome
- Oculomaxillofacial dysostosis
- Oculomotor apraxia Cogan type
- Oculopharyngeal muscular dystrophy
- Oculopharyngodistal myopathy
- Oculorenocerebellar syndrome
- Oculo digital syndrome
- Oculo skeletal renal syndrome
- Oculo-auriculo-vertebral spectrum
- Oculo-cerebral dysplasia
- Odontogenic myxoma
- Odontoma
- Odontoma dysphagia syndrome
- Odontomicronychial dysplasia
- Odontoonychodermal dysplasia
- Odontotrichomelic syndrome
- Odonto onycho dysplasia with alopecia
- Ogilvie syndrome
- Oguchi disease
- Okamoto syndrome
- Olfactory neuroblastoma
- Oligoastrocytoma
- Oligodactyly tetramelic postaxial
- Oligodendroglioma
- Oligomeganephronic renal hypoplasia
- Oliver syndrome
- Olivopontocerebellar atrophy
- Olivopontocerebellar atrophy deafness
- Ollier disease
- Olmsted syndrome
- Omenn syndrome
- Omodysplasia 1
- Omodysplasia 2
- Omphalocele cleft palate syndrome lethal
- Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalomesenteric cyst
- Omsk hemorrhagic fever
- Onchocerciasis
- Oncogenic osteomalacia
- Onychocytic matricoma
- Onychodystrophy-anonychia
- Onychotrichodysplasia and neutropenia
- OPA3 defect
- OPHN1 syndrome
- Opisthorchiasis
- Opitz G/BBB syndrome
- Opsismodysplasia
- Opsoclonus-myoclonus syndrome
- Opthalmomandibulomelic dysplasia
- Optic atrophy polyneuropathy deafness
- Optic atrophy 1
- Optic atrophy 2
- Optic atrophy 5
- Optic atrophy 6
- Optic nerve hypoplasia, familial bilateral
- Optic neuritis
- Optic pathway glioma
- Oral cancer
- Oral leukoplakia
- Oral lichen planus
- Oral squamous cell carcinoma
- Oral submucous fibrosis
- Orbital lymphangioma
- Orbital lymphoma
- Orbital varix
- Organic acidemias
- Organic mood syndrome
- Ornithinemia
- Ornithine transcarbamylase deficiency
- Ornithine translocase deficiency syndrome
- Orofacial Granulomatosis
- Orofaciodigital syndromes
- Orofaciodigital syndrome 1
- Orofaciodigital syndrome 10
- Orofaciodigital syndrome 11
- Orofaciodigital syndrome 12
- Orofaciodigital syndrome 13
- Orofaciodigital syndrome 14
- Orofaciodigital syndrome 2
- Orofaciodigital syndrome 3
- Orofaciodigital syndrome 4
- Orofaciodigital syndrome 5
- Orofaciodigital syndrome 6
- Orofaciodigital syndrome 8
- Orofaciodigital syndrome 9
- Oropharyngeal cancer, adult
- Orotic aciduria type 1
- Oro-mandibular-limb hypogenesis syndrome
- Orthostatic intolerance due to NET deficiency
- Oslam syndrome
- OSMED Syndrome
- Ossicular Malformations, familial
- Ossification of the posterior longitudinal ligament of the spine
- Osteoarthropathy of fingers familial
- Osteochondritis dissecans
- Osteochondroma
- Osteodysplasia familial Anderson type
- Osteodysplasty precocious of Danks Mayne and Kozlowski
- Osteofibrous dysplasia
- Osteogenesis imperfecta
- 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
- Osteomalacia
- Osteomesopyknosis
- Osteomyelitis
- Osteopathia striata with 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
- Osteosarcoma
- Osteosclerosis with ichthyosis and premature ovarian failure
- Ostium secundum atrial septal defect
- Otodental dysplasia
- Otofaciocervical syndrome
- Otoonychoperoneal syndrome
- Otosclerosis, familial
- Oto-Palatal-digital syndrome
- Oto-palato-digital syndrome type 1
- Oto-palato-digital syndrome type 2
- Otulipenia
- Ouvrier Billson syndrome
- Ovarian cancer
- Ovarian carcinosarcoma
- Ovarian epithelial cancer
- Ovarian germ cell tumor
- Ovarian insufficiency, familial
- Ovarian low malignant potential tumor
- Ovarian remnant syndrome
- Ovarian sex cord tumor with annular tubules
- Ovarian small cell carcinoma
- Overhydrated hereditary stomatocytosis
- O Donnell Pappas syndrome
P
- Pachydermoperiostosis
- Pachygyria
- Pachygyria, frontotemporal
- Pachygyria-intellectual disability-epilepsy syndrome
- Pachyonychia congenita
- Pacman dysplasia
- PACS1-related syndrome
- Paget disease of bone
- 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
- Palindromic rheumatism
- Pallidopyramidal syndrome
- Pallister W syndrome
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Palmer Pagon syndrome
- Palmoplantar keratoderma
- Palmoplantar keratoderma-sclerodactyly syndrome
- Pancreatic adenoma
- Pancreatic cancer
- Pancreatic lipomatosis duodenal stenosis
- Pancreatic neuroendocrine tumor
- Pancreatitis, pediatric
- Pancreatoblastoma
- 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
- Paragangliomas 1
- Paragangliomas 2
- Paragangliomas 3
- Paragangliomas 4
- Paraganglioma and gastric stromal sarcoma
- Paragonimiasis
- Parainfluenza virus type 3
- Paralysis agitans, juvenile, of Hunt
- Paramyotonia congenita
- Paranasal sinus cancer, adult
- Paraneoplastic cerebellar degeneration
- Paraneoplastic Neurologic Disorders
- Paraomphalocele
- Paraplegia
- Parapsoriasis
- Paraquat lung
- Parastremmatic dwarfism
- Parathyroid carcinoma
- PARC syndrome
- Paris-Trousseau thrombocytopenia
- Parkes Weber syndrome
- Parkinson disease
- 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
- Parsonage Turner syndrome
- Pars planitis
- Partial androgen insensitivity syndrome
- Partial atrioventricular canal
- Partial deletion of the short arm of chromosome 3
- Partial deletion of Y
- Partial duplication of the short arm of chromosome X
- Partington syndrome
- Parvovirus antenatal infection
- PASLI disease
- Pasteurella multocida infection
- Patent ductus arteriosus
- Patent ductus venosus
- Paternal uniparental disomy of chromosome 14
- Pattern dystrophy
- Patterson pseudoleprechaunism syndrome
- Patterson-Stevenson-Fontaine syndrome
- Patulous Eustachian Tube
- 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 autoimmune neuropsychiatric disorders associated with Streptococcus infections
- Pediatric Crohn’s disease
- 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
- Penis agenesis
- Penoscrotal transposition
- Pentalogy of Cantrell
- Pentosuria
- PEPCK 1 deficiency
- PEPCK 2 deficiency
- Perilymphatic fistula
- 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
- Pernicious anemia
- Perniosis
- Peroxisomal beta-oxidation disorder
- Peroxisomal biogenesis disorders
- Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Peroxisome disorders
- Perrault syndrome
- Perry syndrome
- Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
- Persistent genital arousal disorder
- Persistent Müllerian duct syndrome
- Persistent truncus arteriosus
- Peters anomaly
- Peters plus syndrome
- Peutz-Jeghers syndrome
- Pfeiffer Kapferer syndrome
- Pfeiffer Mayer syndrome
- Pfeiffer Palm Teller syndrome
- Pfeiffer Rockelein syndrome
- Pfeiffer syndrome
- Pfeiffer Tietze Welte syndrome
- Pfeiffer-type cardiocranial syndrome
- PGM1-CDG
- PGM3-CDG
- PHACE syndrome
- Phacomatosis pigmentokeratotica
- Phacomatosis pigmentovascularis
- Phaeohyphomycosis
- PHAVER syndrome
- Phenobarbital antenatal exposure
- Phenylketonuria
- Pheochromocytoma
- Pheochromocytoma-islet cell tumor syndrome
- Philadelphia-negative chronic myeloid leukemia
- PHIP-Related disorder
- Phocomelia
- Phocomelia ectrodactyly deafness sinus arrhythmia
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Phosphomannoisomerase deficiency
- Phosphoribosylpyrophosphate synthetase superactivity
- Phosphoserine aminotransferase deficiency
- Photosensitive epilepsy
- Phyllodes tumor of the breast
- Phyllodes tumor of the prostate
- 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
- Pigmented purpuric dermatosis
- Pigmented villonodular synovitis
- Pigment-dispersion syndrome
- PIK3CA-related overgrowth spectrum
- Pili annulati
- Pili torti
- Pili torti developmental delay neurological abnormalities
- Pili torti onychodysplasia
- Pillay syndrome
- Pilocytic astrocytoma
- Pilodental dysplasia with refractive errors
- Pilomatrixoma
- Pilotto syndrome
- Pineal germ cell tumor
- Pineal parenchymal tumors of intermediate differentiation
- Pineoblastoma
- 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
- Plasmablastic lymphoma
- Plasmacytoma
- Plasma cell leukemia
- Plasminogen activator inhibitor type 1 deficiency
- Platelet storage pool deficiency
- Platyspondylic lethal skeletal dysplasia Torrance type
- Pleoconial myopathy with salt craving
- Pleomorphic xanthoastrocytoma
- Pleuroparenchymal fibroelastosis
- Pleuropulmonary blastoma
- Plexosarcoma
- Plummer Vinson syndrome
- PMM2-CDG (CDG-Ia)
- Pneumocystis jirovecii pneumonia
- Pneumocystosis
- Pneumonia caused by Pseudomonas aeruginosa infection
- Podder-Tolmie syndrome
- POEMS syndrome
- Poikiloderma with neutropenia
- Pointer syndrome
- Poland syndrome
- Poliomyelitis
- POLR3-Related Leukodystrophy
- Polyarteritis nodosa
- Polyarticular onset juvenile idiopathic arthritis
- Polycystic bone disease
- Polycystic kidneys, severe infantile with tuberous sclerosis
- Polycystic kidney disease
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Polycystic liver disease
- Polycystic ovarian syndrome
- Polycythemia vera
- Polydactyly
- Polydactyly myopia syndrome
- Polydactyly postaxial dental and vertebral
- Polydactyly syndrome middle ray duplication
- Polyembryoma
- Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
- Polymicrogyria
- 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
- Poncet-Spiegler’s cylindroma
- Pontine hemorrhage
- 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
- 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
- Positive rheumatoid factor polyarthritis
- Posner-Schlossman syndrome
- Posterior column ataxia
- Posterior column ataxia with retinitis pigmentosa
- Posterior urethral valves
- Posterior uveitis
- Postnatal progressive microcephaly, seizures, and brain atrophy
- Postorgasmic illness syndrome
- Postural orthostatic tachycardia syndrome
- Post Polio syndrome
- Post-transplant lymphoproliferative disease
- Post-traumatic epilepsy
- 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
- Preauricular sinus
- Preaxial deficiency, postaxial polydactyly and hypospadias
- Preaxial polydactyly type 1
- Preaxial polydactyly type 2
- Preaxial polydactyly type 3
- Preaxial polydactyly type 4
- 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 cutaneous follicle center lymphoma
- Primary effusion lymphoma
- Primary familial and congenital polycythemia
- Primary Familial Brain Calcification
- Primary hyperaldosteronism
- 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 localized cutaneous nodular amyloidosis
- Primary malignant melanoma of the cervix
- Primary malignant melanoma of the conjunctiva
- Primary melanoma of the central nervous system
- Primary myelofibrosis
- 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
- Progeroid short stature with pigmented nevi
- Progeroid syndrome Petty type
- Progestogen hypersensitivity
- Prognathism mandibular
- Progressive bifocal chorioretinal atrophy
- 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 type 2
- Progressive familial intrahepatic cholestasis type 3
- Progressive familial intrahepatic cholestasis 1
- Progressive familial intrahepatic cholestasis-4
- 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
- PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
- Prostatic malacoplakia associated with prostatic abscess
- Prostatic stromal proliferation of uncertain malignant potential
- Prosthetic joint infection
- Protein C deficiency
- Protein S deficiency
- Proteus syndrome
- Proteus-like syndrome
- Prothrombin deficiency
- 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
- Pseudoachondroplasia
- Pseudoachondroplastic dysplasia 2
- Pseudoainhum
- Pseudoaminopterin syndrome
- Pseudoangiomatous stromal hyperplasia
- Pseudobulbar affect
- 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
- Pseudomonas stutzeri infections
- Pseudomyxoma peritonei
- Pseudoneonatal adrenoleukodystrophy
- Pseudopapilledema blepharophimosis hand anomalies
- Pseudopelade of Brocq
- Pseudopolycythaemia
- Pseudoprogeria syndrome
- Pseudopseudohypoparathyroidism
- Pseudotrisomy 13 syndrome
- Pseudoxanthoma elasticum
- Pseudoxanthoma elasticum, forme fruste
- Pseudo Pelger-Huet anomaly
- Pseudo-Turner syndrome
- Pseudo-Von Willebrand disease
- Psittacosis
- Psoriasis
- Psoriatic juvenile idiopathic arthritis
- PTEN hamartoma tumor syndrome
- Pterygium of the conjunctiva and cornea
- Ptosis strabismus ectopic pupils
- Pudendal Neuralgia
- Pulmonary alveolar microlithiasis
- Pulmonary arterial hypertension
- Pulmonary arteriovenous malformation
- Pulmonary arterio-veinous fistula
- 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 edema of mountaineers
- Pulmonary hyalinizing granuloma
- Pulmonary hypoplasia, familial primary
- Pulmonary sequestration
- Pulmonary supravalvular stenosis
- Pulmonary surfactant protein B, deficiency of
- Pulmonary valves agenesis
- Pulmonary valve stenosis
- Pulmonary vein stenosis
- Pulmonary venoocclusive disease
- Pulmonary venous return anomaly
- Pulmonic stenosis
- Punctate inner choroidopathy
- Punctate palmoplantar keratoderma type I
- Punctate palmoplantar keratoderma type 2
- Punctate porokeratosis
- PURA syndrome
- Pure autonomic failure
- Pure red cell aplasia
- Purine nucleoside phosphorylase deficiency
- Purpura simplex
- Pustular psoriasis
- Pustulosis palmaris et plantaris
- Pycnodysostosis
- Pyknoachondrogenesis
- Pyle disease
- Pyoderma gangrenosum
- Pyogenic arthritis, pyoderma gangrenosum and acne
- Pyogenic granuloma
- Pyomyositis
- Pyramidal molars-abnormal upper lip syndrome
- 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
- Pythiosis