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Rare Disease List

View the entire rare disease list compiled by the NIH Genetic and Rare Diseases Information Center.

 

Disease Name
10q22.3q23 microdeletion syndrome
11-beta-hydroxylase deficiency
12q14 microdeletion syndrome
15q11.2 microdeletion
15q13.3 microdeletion syndrome
15q13.3 microduplication syndrome
15q24 microdeletion syndrome
16p11.2 deletion syndrome
16p11.2 duplication
16p13.11 microduplication syndrome
16q24.3 microdeletion syndrome
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17q12 deletion syndrome
17q12 duplication
17q23.1q23.2 microdeletion syndrome
18 Hydroxylase deficiency
19p13.12 microdeletion syndrome
1q duplications
1q21.1 microdeletion syndrome
1q44 microdeletion syndrome
2,4-Dienoyl-CoA reductase deficiency
2-hydroxyethyl methacrylate sensitization
2-Hydroxyglutaric aciduria
2-methyl-3-hydroxybutyric aciduria
2-Methylacetoacetyl CoA thiolase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
21-hydroxylase deficiency
22q11.2 deletion syndrome
22q11.2 duplication syndrome
22q13.3 deletion syndrome
2p15p16.1 microdeletion syndrome
2q23.1 microdeletion syndrome
2q37 deletion syndrome
3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 methylglutaconic aciduria type V
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3-Hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
3M syndrome
3MC syndrome
3q29 microdeletion syndrome
4-hydroxyphenylacetic aciduria
46, XY disorders of sexual development
46,XX Gonadal dysgenesis epibulbar dermoid
46,XX testicular disorder of sex development
47 XXX syndrome
47, XYY syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY
49, XXXYY syndrome
49,XXXXX syndrome
49,XXXXY syndrome
5-alpha reductase deficiency
5-Nucleotidase syndrome
5-oxoprolinase deficiency
5q- syndrome
5q14.3 microdeletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
7q11.23 duplication syndrome
8p23.1 duplication syndrome
8q12 microduplication syndrome
Aagenaes syndrome
Aarskog syndrome
Abderhalden Kaufmann Lignac syndrome
Abdominal aortic aneurysm
Abdominal chemodectomas with cutaneous angiolipomas
Abdominal cystic lymphangioma
Abdominal obesity metabolic syndrome
Aberrant subclavian artery
Abetalipoproteinemia
Ablepharon macrostomia syndrome
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 muscle cramps acral enlargement
Acardia
Acatalasemia
Accessory deep peroneal nerve
Accessory pancreas
ACDC
Aceruloplasminemia
Acetyl CoA acetyltransferase 2 deficiency
Acetyl-carnitine deficiency
Achalasia microcephaly syndrome
Achard syndrome
Achard Thiers syndrome
Acheiropody
Achondrogenesis
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondroplasia
Achondroplasia and severe combined immunodeficiency
Achondroplasia and Swiss type agammaglobulinemia
Achromatopsia 2
Achromatopsia 3
Acinic cell carcinoma
Acitretin embryopathy
Ackerman syndrome
Acoustic neuroma
Acquired agranulocytosis
Acquired amegakaryocytic thrombocytopenia
Acquired angioedema
Acquired fructose intolerance
Acquired 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
Acro coxo mesomelic dysplasia
Acro-pectoro-renal field defect
Acrocallosal syndrome, Schinzel type
Acrocapitofemoral dysplasia
Acrocephalopolydactylous dysplasia
Acrocephalopolydactyly
Acrodermatitis
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia scoliosis
Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
Acrofacial dysostosis Catania type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Preis type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis syndrome
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Acromegaloid changes, cutis verticis gyrata and corneal leukoma
Acromegaloid facial appearance syndrome
Acromegaloid features, overgrowth, cleft palate and hernia
Acromegaloid hypertrichosis syndrome
Acromegaly
Acromelanosis
Acromelic frontonasal dysostosis
Acromesomelic dysplasia
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acropectoral syndrome
Acropectorovertebral dysplasia F form
Acrorenal mandibular syndrome
Acrorenal syndrome recessive
Acrospiroma
ACSL4-related intellectual disability
ACTG2-related disorders
ACTH-independent macronodular adrenal hyperplasia
ACTH-secreting pituitary adenoma
Actinic cheilitis
Actinic lichen planus
Actinomycosis
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 with maturation
Acute myeloblastic leukemia without 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
Adducted thumbs Dundar type
Adenine phosphoribosyltransferase deficiency
Adenocarcinoid tumor
Adenocarcinoma of the appendix
Adenoid cystic carcinoma
Adenoma of the adrenal gland
Adenosarcoma of the uterus
Adenosine Deaminase 2 deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenosquamous carcinoma of the endometrium
Adenylosuccinase deficiency
Adermatoglyphia
Adie syndrome
Adiposis dolorosa
Adnexal spiradenoma/cylindroma of a sweat gland
ADNP syndrome
Adolescent-onset dystonia of mixed type
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 citrullinemia type II
Adult-onset dystonia-parkinsonism
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
Aicardi-Goutieres syndrome type 1
Aicardi-Goutieres syndrome type 2
Aicardi-Goutieres syndrome type 3
Aicardi-Goutieres syndrome type 4
Aicardi-Goutieres syndrome type 5
AIDS Dementia Complex
AIDS dysmorphic syndrome
Ainhum
Airway-centered interstitial fibrosis
Akaba Hayasaka syndrome
Akesson syndrome
Aksu von Stockhausen syndrome
AL amyloidosis
Al Gazali Aziz Salem syndrome
Al Gazali Khidr Prem Chandran syndrome
Al Gazali Sabrinathan Nair syndrome
Al Gazali syndrome
Al-Awadi-Raas-Rothschild syndrome
Al-Gazali-Donnai-Mueller syndrome
Alagille syndrome
Aland island eye disease
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
Albinism
Albinism deafness syndrome
Albinism ocular late onset sensorineural deafness
Albinism, minimal pigment type
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
ALK+ histiocytosis
Alkaptonuria
Allain-Babin-Demarquez syndrome
Allan-Herndon-Dudley syndrome
Allergic angiitis
Allergic bronchopulmonary aspergillosis
Allergic encephalomyelitis
Aloi Tomasini Isaia syndrome
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia intellectual disability syndrome 2
Alopecia macular degeneration growth retardation
Alopecia universalis
Alopecia universalis onychodystrophy vitiligo
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Alpers syndrome
Alpha-1 antitrypsin deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis
Alpha-thalassemia
Alpha-thalassemia x-linked intellectual disability syndrome
Alpha-thalassemia-abnormal morphogenesis
Alport syndrome
Alsing syndrome
Alström syndrome
Alternating hemiplegia of childhood
Aluminosis
Alveolar capillary dysplasia
Alveolar echinococcosis
Alveolar soft part sarcoma
Alzheimer disease type 1
Alzheimer disease type 2
Alzheimer disease type 3
Alzheimer disease type 4
Alzheimer’s disease without neurofibrillary tangles
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
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
Aminoaciduria
Aminoacylase 1 deficiency
Aminolevulinate dehydratase deficiency porphyria
Amish lethal microcephaly
Amish Nemaline Myopathy
AML with myelodysplasia-related features
Amniotic band syndrome
Amoebiasis due to free-living amoebae
Ampola syndrome
Amyloid neuropathy
Amyloidosis AA
Amyloidosis Beta2M
Amyloidosis bronchopulmonary
Amyloidosis corneal
Amyloidosis familial visceral
Amyloidosis nodular localized cutaneous
Amyloidosis of gingiva and conjunctiva with intellectual disability
Amyopathic dermatomyositis
Amyotonia congenita
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 2
Amyotrophic lateral sclerosis type 3
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 7
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 9
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
Amyotrophy, neurogenic scapuloperoneal, New England type
Anal cancer
Anal sphincter dysplasia
Anaplastic astrocytoma
Anaplastic ependymoma
Anaplastic ganglioglioma
Anaplastic large cell lymphoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anaplastic plasmacytoma
Anaplastic small cell lymphoma
Anaplastic thyroid cancer
Anauxetic dysplasia
ANCA-associated vasculitis
Ancylostomiasis
Andermann syndrome
Andersen-Tawil syndrome
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
Aneurysm of sinus of Valsalva
Aneurysm, intracranial berry, 2
Aneurysmal bone cysts
Angel shaped phalangoepiphyseal dysplasia
Angelman syndrome
Angiofollicular lymph hyperplasia
Angioimmunoblastic lymphadenopathy with dysproteinemia
Angioimmunoblastic T-cell lymphoma
Angioma hereditary neurocutaneous
Angioma serpiginosum, autosomal dominant
Angioma serpiginosum, X-linked
Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
Angiomatosis, leptomeningeal capillary venous
Angiomatous lymphoid hamartoma
Angiomyomatous Hamartoma
Angiosarcoma of the breast
Angiosarcoma of the liver
Angiosarcoma of the scalp
Angiostrongyliasis
Aniridia
Aniridia – ptosis – intellectual disability – familial obesity
Aniridia absent patella
Aniridia renal agenesis psychomotor retardation
Anisakiasis
Ankyloblepharon filiforme adnatum cleft palate
Ankyloblepharon filiforme imperforate anus
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 total with microcephaly
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 pituitary insufficiency, familial
Anterior segment dysgenesis
Anterior spinal artery stroke
Anterior uveitis
Anthrax
Anti-HLA hyperimmunization
Anti-PIT-1 antibody syndrome
Anti-plasmin deficiency, congenital
Antigen-peptide-transporter 2 deficiency
Antiphospholipid syndrome
Antisynthetase syndrome
Antley Bixler syndrome
Anton’s syndrome
Aorta-pulmonary artery fistula
Aortic aneurysm, familial thoracic 4
Aortic arch anomaly – peculiar facies – intellectual disability
Aortic arch interruption
Aortic arches defect
Aortic coarctation
Aortic dissection lentiginosis
Aortic valve stenosis
Aortic valves stenosis of the child
Aortopulmonary window
Apert 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
Apo A-I deficiency
Apocrine carcinoma
Apolipoprotein C-II deficiency
Apparent mineralocorticoid excess
Apraxia
Aquagenic pruritus
Aquagenic syringeal acrokeratoderm
Aquagenic urticaria
Arachindonic acid, absence of
Arachnodactyly – intellectual disability – dysmorphism
Arachnoid cysts
Arachnoiditis
Arbovirosis
AREDYLD
Arena syndrome
Arginase deficiency
Argininosuccinic aciduria
Arhinia choanal atresia microphthalmia
Arnold Stickler Bourne syndrome
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
Arrhinia
Arrhythmogenic right ventricular dysplasia
Arroyo Garcia Cimadevilla syndrome
Arterial calcification of infancy
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis due to muscular dystrophy
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis IUGR thoracic dystrophy
Arthrogryposis like disorder
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita CNS calcification
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita pulmonary hypoplasia
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis spinal muscular atrophy
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
ARX-related intellectual disability
Asbestosis
Ascher Syndrome
Asherman’s syndrome
Aspartylglycosaminuria
Aspergillosis
Aspergillus niger infection
Asphyxia neonatorum
Asrar Facharzt Haque syndrome
Asternia
Asternia with Cardiac, Diaphragmatic, and Abdominal defects
Astley-Kendall syndrome
Astroblastoma
Ataxia – hypogonadism – choroidal dystrophy
Ataxia telangiectasia
Ataxia with vitamin E deficiency
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 4
Ataxia-oculomotor apraxia-3
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Athabaskan brainstem dysgenesis
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 Pierini and Pasini
Atrophoderma vermiculata
Attenuated familial adenomatous polyposis
Atypical Gaucher disease due to saposin C deficiency
Atypical hemolytic uremic syndrome
Atypical mycobacteriosis, familial
Atypical Rett syndrome
Atypical Werner syndrome
Auditory neuropathy spectrum disorder
Auralcephalosyndactyly
Auriculo-condylar syndrome
Auriculoosteodysplasia
Ausems Wittebol-Post Hennekam syndrome
Autism with port-wine stain
Autoimmune 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 progesterone dermatitis
Autoimmune pulmonary alveolar proteinosis
Autoimmune retinopathy
Autosomal dominant Alport syndrome
Autosomal dominant café au lait spots
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant intellectual disability 30
Autosomal dominant intellectual disability 40
Autosomal dominant intellectual disability 49
Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant leukodystrophy with autonomic disease
Autosomal dominant multiple pterygium syndrome
Autosomal dominant neuronal ceroid lipofuscinosis 4B
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant partial epilepsy with auditory features
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
Autosomal dominant spondyloepiphyseal dysplasia tarda
Autosomal dominant torsion dystonia-4
Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) due to REN mutations
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive Alport syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive centronuclear myopathy
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive hyper IgE syndrome
Autosomal recessive intellectual disability 58
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive juvenile Parkinson disease
Autosomal recessive neuronal ceroid lipofuscinosis 4A
Autosomal recessive nonsyndromic congenital nuclear cataract
Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive polycystic kidney disease
Autosomal recessive primary microcephaly
Autosomal recessive protein C deficiency
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive spastic ataxia 4
Autosomal recessive spastic paraplegia type 49
Autosomal recessive spinocerebellar ataxia 9
Axenfeld-Rieger syndrome
Axial mesodermal dysplasia spectrum
Axial osteomalacia
Axial spondylometaphyseal dysplasia
Ayazi syndrome
B cell prolymphocytic leukemia
B-cell lymphoma
B4GALT1-CDG (CDG-IId)
Babesiosis
Baby rattle pelvic dysplasia
Bacterial meningitis
Baetz-Greenwalt syndrome
Bagatelle Cassidy syndrome
Bain type of X-linked syndromic intellectual disability
Bainbridge-Ropers syndrome
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 Brett Piesowicz syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome
Barakat syndrome
Barber Say syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bare lymphocyte syndrome
Bare lymphocyte syndrome 2
Baritosis
Barnicoat Baraitser syndrome
Baroreflex failure
Barraquer-Simons syndrome
Barth syndrome
Bartter syndrome
Bartter syndrome antenatal type 1
Bartter syndrome antenatal type 2
Bartter syndrome type 3
Bartter syndrome type 4
Basal cell carcinoma, infundibulocystic
Basal cell carcinoma, multiple
Basal cell nevus anodontia abnormal bone mineralization
Basaloid follicular hamartoma
Basaran Yilmaz syndrome
Basedow’s coma
Bassoe syndrome
Battaglia-Neri syndrome
Baylisascaris infection
Bazex-Dupre-Christol syndrome
Bd syndrome
Beare-Stevenson cutis gyrata syndrome
Becker muscular dystrophy
Becker nevus syndrome
Becker’s nevus
Beckwith-Wiedemann syndrome
Bednar tumor
Beemer Ertbruggen syndrome
Behçet disease
Behr syndrome
Bejel
Bell’s palsy
Ben Ari Shuper Mimouni syndrome
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 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)
Bent bone dysplasia syndrome
BENTA disease
Beriberi
Berk-Tabatznik syndrome
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
Beryllium disease
Best vitelliform macular dystrophy
Best1 retinopathy
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 2
Biemond syndrome type 1
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
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Birdshot chorioretinopathy
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Bixler Christian Gorlin syndrome
Bizzare parosteal osteochondromatous proliferation
Bjornstad syndrome
BK-virus nephropathy
Bladder cancer, childhood
Blastic plasmacytoid dendritic cell
Blastomycosis
Blau syndrome
Bleeding disorder due to P2RY12 defect
Blepharo naso facial syndrome Van maldergem type
Blepharonasofacial malformation syndrome
Blepharophimosis
Blepharophimosis intellectual disability syndromes
Blepharophimosis with ptosis, syndactyly, and short stature
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
Blepharoptosis myopia ectopia lentis
Bloom syndrome
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
Book syndrome
Boomerang dysplasia
BOR-Duane hydrocephalus contiguous gene syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt syndrome
Borrone Di Rocco Crovato syndrome
Bothriocephalosis
Botulism
Boudhina Yedes Khiari syndrome
Bourneville syndrome
Bow hunter’s stroke
Bowen’s disease
Bowen-Conradi syndrome
Bowenoid papulosis
Bowing of legs, anterior with dwarfism
Bowing of long bones congenital
Boylan Dew Greco syndrome
Brachial amelia, cleft lip, and holoprosencephaly
Brachial amelia, forebrain defects and facial clefts
Brachioskeletogenital syndrome
Brachycephalofrontonasal dysplasia
Brachydactylous dwarfism Mseleni type
Brachydactyly absence of distal phalanges
Brachydactyly anonychia
Brachydactyly elbow wrist dysplasia
Brachydactyly long thumb type
Brachydactyly Mononen type
Brachydactyly preaxial with hallux varus and thumb abduction
Brachydactyly small stature face anomalies
Brachydactyly tibial hypoplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type C
Brachydactyly type E
Brachydactyly types B and E combined
Brachydactyly with hypertension
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachymesomelia renal syndrome
Brachymesophalangy type 2
Brachymetapody anodontia hypotrichosis albinoidism
Brachyolmia
Brachyolmia type 3
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Braddock Jones Superneau syndrome
Bradyopsia
Brain stem cancer
Brain tumor, adult
Brain tumor, childhood
Brain-lung-thyroid syndrome
Branchial arch defects
Branchial arch syndrome X-linked
Branchiooculofacial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
BRCA1 hereditary breast and ovarian cancer syndrome
BRCA2 hereditary breast and ovarian cancer syndrome
Breast cancer, childhood
Breast cancer, male
Brenner tumor of ovary
Brenner tumor of the vagina
Brittle bone syndrome lethal type
Brittle cornea syndrome
Brittle diabetes
Brody myopathy
Broken heart syndrome
Bronchial adenomas/carcinoids childhood
Bronchiectasis oligospermia
Bronchiolitis obliterans
Bronchiolitis obliterans organizing pneumonia
Bronchogenic cyst
Bronchopulmonary dysplasia
Brooke-Spiegler syndrome
Brooks Wisniewski Brown syndrome
Brown syndrome
Brown-Sequard syndrome
Brown-Vialetto-Van Laere syndrome 2
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
Burn Goodship syndrome
Burnett Schwartz Berberian syndrome
Burning mouth syndrome type 3
Buruli ulcer
Buschke Lowenstein tumor
Buschke Ollendorff syndrome
Bustos Simosa Pinto Cisternas syndrome
Byssinosis
C syndrome
C1q deficiency
C1q nephropathy
Cabezas syndrome
CADASIL
Cafe au lait spots, multiple
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
Candidiasis familial chronic mucocutaneous, autosomal dominant
Candidiasis familial chronic mucocutaneous, autosomal recessive
CANOMAD syndrome
Cantalamessa Baldini Ambrosi syndrome
Cantu Sanchez-Corona Fragoso syndrome
Cantu Sanchez-Corona Garcia-Cruz syndrome
Cantu Sanchez-Corona Hernandez syndrome
Cantu syndrome
Cap myopathy
Capillary hemangioblastoma
Capillary malformation-arteriovenous malformation syndrome
Carbamoyl phosphate synthetase 1 deficiency
Carbon baby syndrome
Carbonic anhydrase VA deficiency
Carcinoid syndrome
Carcinoid tumor
Carcinoid tumor childhood
Carcinoma of the vocal tract
Carcinoma of unknown primary site, childhood
Carcinoma showing thymus-like differentiation
Cardiac diverticulum
Cardiac hydatid cysts with intracavitary expansion
Cardiac rupture
Cardiac valvular dysplasia, X-linked
Cardiac-Valvular Ehlers-Danlos syndrome
Cardioauditory syndrome of Sanchez Cascos
Cardiocranial syndrome
Cardioencephalomyopathy
Cardiofacial syndrome short limbs
Cardiofaciocutaneous syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathy and deafness due to tRNA lysine gene mutation
Cardiomyopathy cataract hip spine disease
Cardiomyopathy diabetes deafness
Cardiomyopathy dilated with conduction defect type 1
Cardiomyopathy dilated with conduction defect type 2
Cardiomyopathy dilated with woolly hair and keratoderma
Cardiomyopathy due to anthracyclines
Cardiomyopathy hypogonadism metabolic anomalies
Cardiomyopathy spherocytosis
Cardiomyopathy, fatal fetal, due to myocardial calcification
Cardioskeletal syndrome Kuwaiti type
Cardiospasm
Carey-Fineman-Ziter syndrome
Carnevale Hernandez Castillo syndrome
Carney complex
Carney triad
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Caroli disease
Carotid body tumor
Carpal deformity micrognathia microstomia
Carpenter syndrome
Carpo tarsal osteolysis recessive
Carpotarsal osteochondromatosis
Cartilage-hair hypoplasia
Cartilaginous cancer
Cartwright Nelson Fryns syndrome
CASK-Related Disorders
Caspase-8 deficiency
Cassavism
Castleman disease
Cat eye syndrome
Cat scratch disease
Catamenial pneumothorax
Cataract and congenital ichthyosis
Cataract ataxia deafness
Cataract congenital autosomal dominant
Cataract congenital dominant non nuclear
Cataract congenital Volkmann type
Cataract Hutterite type
Cataract microcornea syndrome
Cataract skeletal anomalies
Cataract, autosomal recessive congenital 2
Cataract, congenital, with microcornea or slight microphthalmia
Cataract, posterior polar, 1
Cataract, posterior polar, 3
Cataract, posterior polar, 4
Cataract, posterior polar, 5
Cataract, total congenital
Cataract-glaucoma
Cataract-microcephaly-failure to thrive-kyphoscoliosis
Cataracts, ataxia, short stature, and mental retardation
Catastrophic antiphospholipid syndrome
Catatrichy
Catecholaminergic polymorphic ventricular tachycardia
Catel Manzke syndrome
Cauda equina syndrome
Caudal appendage deafness
Caudal duplication
Caudal regression syndrome
Cavernous lymphangioma
Ccge syndrome
CD3 deficiency
CD4 deficiency
CDG syndrome type 3
CDG syndrome type 4
CDK4 linked melanoma
CDKL5 deficiency disorder
Celiac artery compression syndrome
Cennamo Gangemi syndrome
Central centrifugal cicatricial alopecia
Central congenital hypothyroidism
Central core disease
Central diabetes insipidus
Central nervous system germinoma
Central neurocytoma
Central pain syndrome
Central serous chorioretinopathy
Centronuclear myopathy
Cercarial Dermatitis
Cerebellar agenesis
Cerebellar astrocytoma, childhood
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar degeneration
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar hypoplasia with endosteal sclerosis
Cerebellar liponeurocytoma
Cerebello-olivary atrophy
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral astrocytoma, childhood
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral calcification cerebellar hypoplasia
Cerebral calcifications opalescent teeth phosphaturia
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral folate deficiency
Cerebral gigantism jaw cysts
Cerebral palsy ataxic
Cerebral palsy athetoid
Cerebral palsy spastic hemiplegic
Cerebral palsy spastic monoplegic
Cerebral palsy spastic quadriplegic
Cerebral sarcoma
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
Cerebral ventricle cancer
Cerebro facio thoracic dysplasia
Cerebro-costo-mandibular syndrome
Cerebro-facio-articular syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrocostomandibular-like syndrome
Cerebrooculonasal syndrome
Cerebrospinal fluid leak
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Ceroid storage disease
Cerulean cataract
Cervical dystonia
Cervical hypertrichosis peripheral neuropathy
Cervical intraepithelial neoplasia
Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
Chanarin-Dorfman syndrome
Chancroid
Chandler’s syndrome
Chaotic atrial tachycardia
Char syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2C
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2G
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease type 2L
Charcot-Marie-Tooth disease type 2N
Charcot-Marie-Tooth disease type 2O
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2Q
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
CHARGE syndrome
Charles Bonnet syndrome
Charlie M syndrome
CHD2 myoclonic encephalopathy
Chediak-Higashi syndrome
Cheilitis glandularis
Cherubism
Chester porphyria
Chiari malformation type 2
Chiari malformation type 3
Chiari malformation type 4
Chiari-Frommel syndrome
Chikungunya
Chilaiditi syndrome
CHILD 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 ovarian cancer
Childhood-onset cerebral X-linked adrenoleukodystrophy
Childhood-onset nemaline myopathy
Childhood-Onset Schizophrenia
Children’s interstitial lung disease
Chitayat Meunier Hodgkinson syndrome
Chitty Hall Webb syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cholecystitis
Cholera
Cholestasis, progressive familial intrahepatic 4
Cholesteatoma
Cholesterol pneumonia
Cholesteryl ester storage disease
Chondroblastoma
Chondrocalcinosis 1
Chondrocalcinosis 2
Chondrocalcinosis due to apatite crystal deposition
Chondrodysplasia acromesomelic with genital anomalies
Chondrodysplasia Blomstrand type
Chondrodysplasia calcificans metaphysealis
Chondrodysplasia lethal recessive
Chondrodysplasia punctata 1, X-linked recessive
Chondrodysplasia punctata Sheffield type
Chondrodysplasia punctata syndrome
Chondrodysplasia punctata with steroid sulfatase deficiency
Chondrodysplasia punctata, humero-metacarpal type
Chondrodysplasia situs inversus imperforate anus polydactyly
Chondrodysplasia with joint dislocations, GPAPP type
Chondrodysplasia, Grebe type
Chondrodystrophy
Chondroma
Chondrosarcoma
CHOPS syndrome
Chordoid glioma of the third ventricle
Chordoma
Chorea minor
Chorea, remitting with nystagmus and cataracts
Chorea-acanthocytosis
Choreoacanthocytosis amyotrophic
Choriocarcinoma
Chorioretinitis
Chorioretinopathy dominant form microcephaly
Choroid plexus carcinoma
Choroid plexus cyst
Choroid plexus papilloma
Choroidal dystrophy central areolar
Choroideremia
Choroideremia hypopituitarism
Choroiditis
Christian Demyer Franken syndrome
Christian Johnson Angenieta syndrome
Christianson syndrome
Chromhidrosis
Chromoblastomycosis
Chromophil renal cell carcinoma
Chromophobe renal cell carcinoma
Chromosomal triplication
Chromosome 1, uniparental disomy 1q12 q21
Chromosome 10, uniparental disomy
Chromosome 10p deletion
Chromosome 10p duplication
Chromosome 10q deletion
Chromosome 10q duplication
Chromosome 11p deletion
Chromosome 11p duplication
Chromosome 11q deletion
Chromosome 11q duplication
Chromosome 12p deletion
Chromosome 12p duplication
Chromosome 12q deletion
Chromosome 12q duplication
Chromosome 13q deletion
Chromosome 13q duplication
Chromosome 14q deletion
Chromosome 14q duplication
Chromosome 15, trisomy mosaicism
Chromosome 15q deletion
Chromosome 15q duplication
Chromosome 15q25.2 microdeletion
Chromosome 16 trisomy
Chromosome 16, uniparental disomy
Chromosome 16p deletion
Chromosome 16p duplication
Chromosome 16p13.3 deletion syndrome
Chromosome 16p13.3 duplication
Chromosome 16q deletion
Chromosome 16q duplication
Chromosome 17p deletion
Chromosome 17p duplication
Chromosome 17p13.1 deletion syndrome
Chromosome 17q deletion
Chromosome 17q duplication
Chromosome 17q11.2 deletion syndrome
Chromosome 18p deletion
Chromosome 18p duplication
Chromosome 18p tetrasomy
Chromosome 18q deletion
Chromosome 18q duplication
Chromosome 19p deletion
Chromosome 19p duplication
Chromosome 19q deletion
Chromosome 19q duplication
Chromosome 19q13.11 deletion syndrome
Chromosome 1p deletion
Chromosome 1p duplication
Chromosome 1p36 deletion syndrome
Chromosome 1q deletion
Chromosome 1q21.1 duplication syndrome
Chromosome 1q41-q42 deletion syndrome
Chromosome 20 trisomy
Chromosome 20p deletion
Chromosome 20p duplication
Chromosome 20q deletion
Chromosome 20q duplication
Chromosome 21, uniparental disomy
Chromosome 21q deletion
Chromosome 21q duplication
Chromosome 22q deletion
Chromosome 22q duplication
Chromosome 2p deletion
Chromosome 2p duplication
Chromosome 2q deletion
Chromosome 2q duplication
Chromosome 2q24 microdeletion syndrome
Chromosome 3p deletion
Chromosome 3p duplication
Chromosome 3p- syndrome
Chromosome 3q deletion
Chromosome 3q duplication
Chromosome 3q29 microduplication syndrome
Chromosome 4p deletion
Chromosome 4p duplication
Chromosome 4q deletion
Chromosome 4q duplication
Chromosome 5, uniparental disomy
Chromosome 5p deletion
Chromosome 5p duplication
Chromosome 5q deletion
Chromosome 5q duplication
Chromosome 6p deletion
Chromosome 6p duplication
Chromosome 6q deletion
Chromosome 6q duplication
Chromosome 6q25 microdeletion syndrome
Chromosome 7p deletion
Chromosome 7p duplication
Chromosome 7q deletion
Chromosome 7q duplication
Chromosome 8p deletion
Chromosome 8p duplication
Chromosome 8p23.1 deletion
Chromosome 8q deletion
Chromosome 8q duplication
Chromosome 8q24.3 deletion syndrome
Chromosome 9p deletion
Chromosome 9p duplication
Chromosome 9q deletion
Chromosome 9q duplication
Chromosome Xp deletion
Chromosome Xq deletion
Chromosome Xq duplication
Chromosome Xq28 deletion syndrome
Chronic active Epstein-Barr virus infection
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic demyelinizing neuropathy with IgM monoclonal
Chronic eosinophilic pneumonia (CEP)
Chronic erosive gastritis
Chronic graft versus host disease
Chronic granulomatous disease
Chronic hiccups
Chronic Infantile Neurological Cutaneous Articular syndrome
Chronic inflammatory demyelinating polyneuropathy
Chronic intestinal pseudoobstruction
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Chronic lymphocytic leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic myeloproliferative disorders
Chronic neutrophilic leukemia
Chronic polyradiculoneuritis
Chronic progressive external ophthalmoplegia
Chronic recurrent multifocal osteomyelitis
Chronic thromboembolic pulmonary hypertension
Chudley Rozdilsky syndrome
Chudley-Mccullough syndrome
Chylomicron retention disease
Chylothorax, congenital
Chylous ascites
Cicatricial pemphigoid
Ciguatera fish poisoning
Ciliary discoordination, due to random ciliary orientation
Ciliary dyskinesia with excessively long cilia
Ciliary dyskinesia, due to transposition of ciliary microtubules
Ciliary dyskinesia-bronchiectasis
Circumscribed cutaneous aplasia of the vertex
Circumscribed disseminated keratosis Jadassohn Lew type
Citrulline transport defect
Citrullinemia type I
Clark-Baraitser syndrome
Clasped thumbs, congenital
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classical Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome
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 cardiac defect ectrodactyly
Cleft palate colobomata radial synostosis deafness
Cleft palate heart disease polydactyly absent tibia
Cleft palate lateral synechia syndrome
Cleft palate short stature vertebral anomalies
Cleft palate stapes fixation oligodontia
Cleft palate X-linked
Cleft palate, 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
Cluttering
CMV antenatal infection
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
COG1-CDG (CDG-IIg)
COG4-CDG (CDG-IIj)
COG5-CDG (CDG-IIi)
COG6-CDG (CDG-IIL)
COG7-CDG (CDG-IIe)
COG8-CDG (CDG-IIh)
Cogan’s syndrome
Cogan-Reese syndrome
Cohen Lockood Wyborney syndrome
Cohen syndrome
Cold agglutinin disease
Cold urticaria
Cole Carpenter syndrome
Cole disease
Collagen VI related muscular dystrophy
Collagenopathy type 2 alpha 1
Collagenous gastritis
Collecting duct carcinoma
Collins Pope syndrome
Collins Sakati syndrome
Colloid cysts of third ventricle
Coloboma of alar-nasal cartilages with telecanthus
Coloboma of 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
Colobomata unilobar lung heart defect
Colonic atresia
Colonic malakoplakia
Colorectal cancer, childhood
Colpocephaly
Colver Steer Godman syndrome
Combarros Calleja Leno syndrome
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 2 deficiency
Complement component 8 deficiency type 1
Complement component 8 deficiency type 2
Complement component deficiency
Complement component receptor 1
Complement receptor deficiency
Complete androgen insensitivity syndrome
Complete atrioventricular canal
Complex regional pain syndrome
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 1
Cone-rod dystrophy 2
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy amelogenesis imperfecta
Cone-rod dystrophy X-linked 1
Cone-rod dystrophy X-linked 2
Cone-rod dystrophy X-linked 3
Congenital absence of the sternocleidomastoid muscle
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital 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 disorder of glycosylation type I/IIX
Congenital disorder of glycosylation with developmental anomaly
Congenital disorders of glycosylation
Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 3
Congenital ectodermal dysplasia with hearing loss
Congenital erythropoietic porphyria
Congenital extrahepatic portosystemic shunt
Congenital femoral deficiency
Congenital fiber type disproportion
Congenital fibrosis of extraocular muscles
Congenital generalized fibromatosis
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 3
Congenital generalized lipodystrophy type 4
Congenital giant megaureter
Congenital heart block
Congenital heart disease ptosis hypodontia craniostosis
Congenital heart disease radio ulnar synostosis mental retardation
Congenital hemolytic anemia
Congenital hepatic fibrosis
Congenital herpes simplex
Congenital human immunodeficiency virus
Congenital hydrocephalus
Congenital hyperinsulinism
Congenital hypomyelination neuropathy
Congenital hypothyroidism
Congenital hypotrichosis milia
Congenital ichthyosis, microcephalus, quadriplegia
Congenital insensitivity to pain
Congenital insensitivity to pain with anhidrosis
Congenital intrauterine infection-like syndrome
Congenital lactase deficiency
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 alpha-dystroglycanopathy with brain and eye anomalies
Congenital muscular dystrophy
Congenital muscular dystrophy due to dystroglycanopathy
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
Congenital myasthenic syndrome
Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
Congenital myasthenic syndrome with episodic apnea
Congenital myotonic dystrophy
Congenital myxovirus
Congenital nephrotic syndrome Finnish type
Congenital nonhemolytic jaundice
Congenital primary aphakia
Congenital pseudoarthrosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital radioulnar synostosis
Congenital rubella
Congenital stenosis of cervical medullary canal
Congenital sucrase-isomaltase deficiency
Congenital sucrose isomaltose malabsorption
Congenital thrombotic thrombocytopenic purpura
Congenital torticollis
Congenital tracheal stenosis
Congenital tracheomalacia
Congenital unilateral pulmonary hypoplasia
Congenital vagal hyperreflexivity
Congenital varicella syndrome
Congenital vertical talus
Congenital Zika syndrome
Congenitally corrected transposition of the great arteries
Conjunctival melanoma
Conjunctivitis with Pseudomembrane
Conotruncal heart malformations
Continuous muscle fiber activity hereditary
Continuous spike-wave during slow sleep syndrome
Conversion disorder
Convulsions benign familial neonatal dominant form
Convulsions, benign familial infantile, 1
Copper deficiency, familial benign
CoQ-responsive OXPHOS deficiency
Cor biloculare
Cor triatriatum
Cor triatriatum dexter
Cor triatriatum sinister
Cormier Rustin Munnich syndrome
Cornea guttata with anterior polar cataract
Corneal crystals myopathy neuropathy
Corneal dystrophy and perceptive deafness
Corneal dystrophy Avellino type
Corneal dystrophy crystalline of Schnyder
Corneal dystrophy ichthyosis microcephaly mental retardation
Corneal dystrophy of Bowman layer type 1
Corneal dystrophy pigmentary anomaly malabsorption
Corneal dystrophy Thiel Behnke type
Corneal endothelial dystrophy type 2
Corneal hypesthesia, familial
Corneal neuropathic disease
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Coronal synostosis, syndactyly and jejunal atresia
Coronaro-cardiac fistula
Coronary arteries congenital malformation
Coronary artery aneurysm
Corpus callosum agenesis
Corpus callosum agenesis double urinary collecting
Corpus callosum agenesis of blepharophimosis Robin type
Corpus callosum dysgenesis cleft spasm
Corpus callosum dysgenesis hypopituitarism
Corpus callosum dysgenesis X-linked recessive
Cortada Koussef Matsumoto syndrome
Cortes Lacassie syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Cortical defects wormian bones and dentinogenesis imperfecta
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Corticobasal degeneration
Corticosteroid-binding globulin deficiency
Corticosteroid-sensitive aseptic abscesses
Cortisone reductase deficiency
Costello syndrome
Costocoracoid ligament congenitally short
Cote Katsantoni syndrome
Cough headache
Cousin syndrome
Cowden syndrome
Coxa vara, congenital
Coxoauricular syndrome
Cramp-fasciculation syndrome
Crandall syndrome
Crane-Heise syndrome
Cranio osteoarthropathy
Craniodiaphyseal dysplasia
Cranioectodermal dysplasia
Craniofacial and skeletal defects
Craniofacial deafness hand syndrome
Craniofacial dysostosis arthrogryposis progeroid appearence
Craniofacial dysostosis with diaphyseal hyperplasia
Craniofacial dyssynostosis
Craniofacial dystonia
Craniofacial microsomia
Craniofrontonasal dysplasia
Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive type
Craniomicromelic syndrome
Craniopharyngioma
Craniorachischisis
Craniostenosis cataract
Craniosynostosis
Craniosynostosis alopecia brain defect
Craniosynostosis arthrogryposis cleft palate
Craniosynostosis autosomal dominant
Craniosynostosis cleft lip palate arthrogryposis
Craniosynostosis contractures cleft
Craniosynostosis exostoses nevus epibulbar dermoid
Craniosynostosis Fontaine type
Craniosynostosis Maroteaux Fonfria type
Craniosynostosis mental retardation clefting syndrome
Craniosynostosis mental retardation heart defects
Craniosynostosis Philadelphia type
Craniosynostosis, anal anomalies, and porokeratosis
Craniotelencephalic dysplasia
Crawfurd syndrome
Creeping myiasis
CREST syndrome
Cretinism athyreotic
Creutzfeldt-Jakob disease
Cri du chat syndrome
Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 2
Crisponi syndrome
Crohn’s disease of the esophagus
Crome syndrome
Cronkhite-Canada disease
Crossed polydactyly type 1
Crossed polysyndactyly
Crouzon syndrome
Crumpled helices and small mouth
Crusted scabies
Cryofibrinogenemia
Cryoglobulinemia
Cryopyrin-associated periodic syndrome
Cryptococcosis
Cryptogenic organizing pneumonia
Cryptomicrotia brachydactyly syndrome
Cryptophthalmos
Cryptosporidiosis
Culler-Jones syndrome
Curly hair-acral keratoderma-caries syndrome
Currarino triad
Curry Jones syndrome
Cushing syndrome, familial
Cushing’s syndrome
Cutaneous anthrax
Cutaneous 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
Cyclosporiasis
Cylindrical spirals myopathy
Cylindroma
Cyprus facial neuromusculoskeletal syndrome
Cystic adenomatoid malformation of lung
Cystic adventitial disease
Cystic fibrosis
Cystic hygroma
Cystic hygroma lethal cleft palate
Cystic medial necrosis of aorta
Cysticercosis
Cystinosis
Cystinosis, ocular nonnephropathic
Cystinuria
Cytochrome c oxidase deficiency
Cytokine deficiency
Cytokine receptor deficiency
Cytomegalic inclusion disease
Cytomegalovirus retinitis
Cytoplasmic body myopathy
Czech dysplasia metatarsal type
D ercole syndrome
D-2-hydroxyglutaric aciduria
D-bifunctional protein deficiency
D-glycericacidemia
D-minus hemolytic uremic syndrome (D-HUS)
D-plus hemolytic uremic syndrome (D+HUS)
Daentl Towsend Siegel syndrome
Dahlberg Borer Newcomer syndrome
Daish Hardman Lamont syndrome
Dandy-Walker complex
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Dandy-Walker like malformation with atrioventricular septal defect
Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
Dandy-Walker malformation with postaxial polydactyly
Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
Daneman Davy Mancer syndrome
Danon disease
Darier disease
Dauwerse-Peters syndrome
Davenport Donlan syndrome
DCMA syndrome
DDOST-CDG (CDG-Ir)
DDX3X-related intellectual disability
De Barsy syndrome
De Sanctis-Cacchione syndrome
DEAF1-associated disorders
Deafness and myopia syndrome
Deafness conductive ptosis skeletal anomalies
Deafness conductive stapedial ear malformation facial palsy
Deafness craniofacial syndrome
Deafness enamel hypoplasia nail defects
Deafness goiter stippled epiphyses
Deafness hyperuricemia neurologic ataxia
Deafness hypogonadism syndrome
Deafness hypospadias metacarpal and metatarsal syndrome
Deafness mesenteric diverticula of small bowel neuropathy
Deafness mixed with perilymphatic Gusher, X-linked
Deafness nephritis anorectal malformation
Deafness 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
Defective apolipoprotein B-100
Deficiency of interleukin-1 receptor antagonist
Deficiency of N-glycanase 1
Degos ‘en cocarde’ erythrokeratoderma
Degos disease
Dehydrated hereditary stomatocytosis
Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
Delayed membranous cranial ossification
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
Delta-sarcoglycanopathy
Dementia familial British
Dementia, familial Danish
Demodicidosis
Dendritic cell tumor
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Dengue fever
Dennis Fairhurst Moore syndrome
Dens in dente and palatal invaginations
Dense deposit disease
Dent disease
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia, coronal
Dentin dysplasia, type 1
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Denys-Drash syndrome
DEPDC5-Related Epilepsy
Depersonalization/derealization disorder
Der Kaloustian Mcintosh Silver syndrome
Dermal eccrine cylindroma
Dermatitis herpetiformis
Dermatocardioskeletal syndrome Boronne type
Dermatofibrosarcoma protuberans
Dermatoleukodystrophy
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoids of cornea
Dermoodontodysplasia
Desbuquois syndrome
Desmoid tumor
Desmoplastic infantile astrocytoma
Desmoplastic infantile ganglioglioma
Desmoplastic small round cell tumor
Desmosterolosis
Developmental dysphasia familial
Developmental prosopagnosia
Devriendt syndrome
Dextrocardia
Dextrocardia with situs inversus
Dextrocardia with unusual facies and microphthalmia
DFNB1
DHDDS-CDG
Di Guglielmo’s syndrome
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
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 hernia exomphalos corpus callosum agenesis
Diaphragmatic hernia upper limb defects
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diastrophic dysplasia
Dibasic aminoaciduria 1
Dibasic aminoaciduria 2
Dicarboxylic aminoaciduria
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Die Smulders Droog Van Dijk syndrome
Die Smulders Vles Fryns syndrome
Diencephalic syndrome
Dieterich’s disease
Diethylstilbestrol syndrome
Dieulafoy lesion
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 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-1S
Diomedi Bernardi Placidi syndrome
Diphallia
Diphallus rachischisis imperforate anus
Diphosphoglycerate mutase deficiency of erythrocyte
Diphtheria
Diploid-triploid mosaicism
Diprosopia
Dipsogenic diabetes insipidus
Dirofilariasis
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Disorders of Intracellular Cobalamin Metabolism
Disorders with deficiency of a single peroxisomal enzyme
Dissecting cellulitis of the scalp
Disseminated infection with mycobacterium avium complex
Disseminated peritoneal leiomyomatosis
Disseminated superficial actinic porokeratosis
Dissociative seizures
Distal arthrogryposis
Distal arthrogryposis type 1
Distal arthrogryposis type 5
Distal arthrogryposis type 5D
Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
Distal chromosome 18q deletion syndrome
Distal hereditary motor neuropathy
Distal myopathy with vocal cord weakness
Distal primary acidosis, familial
Distal renal tubular acidosis with hemolytic anemia
Distichiasis heart congenital anomalies
Distomatosis
DK phocomelia syndrome
Dobrow syndrome
DOCK2 Deficiency
DOLK-CDG (CDG-Im)
Dominant cleft palate
Dominant dystrophic epidermolysis bullosa
Dominant ichthyosis vulgaris
Dominant optic atrophy
Donnai-Barrow syndrome
DOOR syndrome
Dopa-responsive dystonia
Dopa-responsive dystonia; Segawa syndrome AD
Dopamine beta hydroxylase deficiency
Dosage-sensitive sex reversal
Double discordia
Double fingernail of fifth finger
Double 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
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
Duane syndrome
Duane syndrome type 1
Duane syndrome type 2
Duane syndrome type 3
Duane-radial ray syndrome
Duarte Galactosemia
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Duker Weiss Siber syndrome
Duodenal atresia
Duodenal atresia tetralogy of Fallot
Duodenal carcinoid syndrome
Duodenal ulcer due to antral G-cell hyperfunction
Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
Duplication of leg mirror foot
Duplication of the thumb unilateral biphalangeal
Duplication of urethra
Dupont Sellier Chochillon syndrome
Dupuytren subungual exostosis
Dwarfism bluish sclerae
Dwarfism deafness retinitis pigmentosa
Dwarfism familial with muscle spasms
Dwarfism lethal type advanced bone age
Dwarfism Levi type
Dwarfism thin bones multiple fractures
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
Dwarfism, proportionate with hip dislocation
Dyggve-Melchior-Clausen syndrome
Dykes Markes Harper syndrome
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 acral with facial and genital abnormalities
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 16
Dystonia 2, torsion, autosomal recessive
Dystrophic epidermolysis bullosa
Dystrophinopathy
EAF
Eagle syndrome
Eales disease
Early Infantile Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy 12
Early infantile epileptic encephalopathy 25
Early infantile epileptic encephalopathy 26
Early infantile epileptic encephalopathy 4
Early-onset anterior polar cataract
Early-onset generalized dystonia
Early-onset myopathy, areflexia, respiratory distress and dysphagia
Early-onset parkinsonism-intellectual disability syndrome
Early-onset zonular cataract
Early-onset, autosomal dominant Alzheimer disease
Eastern equine encephalitis
Ebola virus disease
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
Ectropion inferior cleft lip and or palate
Edinburgh malformation syndrome
EEC syndrome
EEM syndrome
Egg shaped pupils
Ehlers-Danlos syndrome, dysfibronectinemic type
Ehlers-Danlos syndromes
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
Emery-Dreifuss muscular dystrophy, dominant type
Emery-Dreifuss muscular dystrophy, X-linked
Empty sella syndrome
Enamel hypoplasia cataract hydrocephaly
Encephalitis lethargica
Encephalocele
Encephalocele anencephaly
Encephalocraniocutaneous lipomatosis
Encephalomyopathy
Encephalopathy due to prosaposin deficiency
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 fibroelastosis
Endomyocardial fibrosis
Engelhard Yatziv syndrome
Engraftment syndrome
Enlarged vestibular aqueduct syndrome
Enteropathica
Enteropathy-associated T-cell lymphoma
Enterovesical fistula
Enterovirus antenatal infection
Enthesitis-related juvenile idiopathic arthritis
Envenomization by bothrops lanceolatus
Eosinophil peroxidase deficiency
Eosinophilia-myalgia syndrome
Eosinophilic cryptitis
Eosinophilic cystitis
Eosinophilic enteropathy
Eosinophilic fasciitis
Eosinophilic granulomatosis with polyangiitis
Eosinophilic mastitis
Eosinophilic pustular folliculitis
Ependymoma
Epidermal nevus vitamin D resistant rickets
Epidermodysplasia verruciformis
Epidermoid brain cyst
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, generalized
Epidermolysis bullosa simplex, localized
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Epilepsy juvenile absence
Epilepsy mental deterioration Finnish type
Epilepsy occipital calcifications
Epilepsy progressive myoclonic type 3
Epilepsy telangiectasia
Epilepsy, benign occipital
Epilepsy, partial, familial
Epimetaphyseal dysplasia cataract
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
Erythroderma desquamativa of Leiner
Erythroderma lethal congenital
Erythrokeratodermia variabilis et progressiva
Erythromelalgia
Erythroplakia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Escher Hirt syndrome
Escobar syndrome, type B
Esophageal atresia
Esophageal atresia coloboma talipes
Esophageal cancer
Esophageal cancer, childhood
Esophageal varices
Esotropia
Essential thrombocythemia
Ethylmalonic encephalopathy
Eunuchoidism familial hypogonadotropic
Evans syndrome
Ewing sarcoma
Ewing’s family of tumors
Exencephaly
Exercise-induced anaphylaxis
Exercise-induced hyperinsulinemic hypoglycemia
Exertional headache
Exfoliative dermatitis
Exogenous lipoid pneumonia
Exogenous ochronosis
Exostoses anetodermia brachydactyly type E
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
Fabry disease
FACES syndrome
Facial arteriovenous malformation
Facial asymmetry temporal seizures
Facial clefting corpus callosum agenesis
Facial ectodermal dysplasia
Facial onset sensory and motor neuronopathy
Facio digito genital syndrome recessive form
Facio skeletal genital syndrome Rippberger type
Facio thoraco genital syndrome
Faciocardiomelic dysplasia lethal
Faciocardiorenal syndrome
Faciomandibular myoclonus, nocturnal
Facioscapulohumeral muscular dystrophy
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIII deficiency
Fallopian tube cancer
Fallot complex with severe mental and growth retardation
Familial adenomatous polyposis
Familial Alzheimer disease
Familial amyloidosis, Finnish type
Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
Familial atrial fibrillation
Familial avascular necrosis of the femoral head
Familial band heterotopia
Familial bilateral striatal necrosis
Familial capillaro-venous leptomeningeal angiomatosis
Familial caudal dysgenesis
Familial cold autoinflammatory syndrome
Familial colorectal cancer
Familial congenital palsy of trochlear nerve
Familial cutaneous collagenoma
Familial cylindromatosis
Familial deafness
Familial dermographism
Familial dilated cardiomyopathy
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 hemiplegic migraine type 1
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 3
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type III
Familial hypersecretion of adrenal androgens
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypertrophic cardiomyopathy
Familial hypobetalipoproteinemia
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypopituitarism
Familial interstitial fibrosis
Familial isolated hyperparathyroidism
Familial isolated pituitary adenoma
Familial joint instability syndrome
Familial juvenile hyperuricaemic nephropathy
Familial LCAT deficiency
Familial lipoprotein lipase deficiency
Familial Mediterranean fever
Familial mixed cryoglobulinemia
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 PLIN1 mutations
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
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 stomach cancer
Familial streblodactyly
Familial thoracic aortic aneurysm and dissection
Familial thyroglossal duct cyst
Familial transthyretin amyloidosis
Familial tumoral calcinosis
Familial ventricular tachycardia
Familial visceral myopathy with external ophthalmoplegia
Familial Wilms tumor 2
Fanconi anemia
Fanconi Bickel syndrome
Fanconi syndrome
Fara Chlupackova syndrome
Farber’s disease
Farmer’s lung
Fascioliasis
Fatal familial insomnia
Fatal infantile encephalomyopathy
Fatty acid hydroxylase-associated neurodegeneration
Faulk Epstein Jones syndrome
Faye-Petersen-Ward-Carey syndrome
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Febrile infection-related epilepsy syndrome
Febrile Ulceronecrotic Mucha-Habermann disease
Feigenbaum Bergeron Richardson syndrome
Feigenbaum Bergeron syndrome
Feingold syndrome
Feingold Trainer syndrome
Felty’s syndrome
Femoral facial syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fenton Wilkinson Toselano syndrome
Fertile eunuch syndrome
Fetal akinesia deformation sequence
Fetal akinesia syndrome X-linked
Fetal aminopterin syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal brain disruption sequence
Fetal cystic hygroma
Fetal edema
Fetal enterovirus syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal iodine syndrome
Fetal left ventricular aneurysm
Fetal macrosomia
Fetal methylmercury syndrome
Fetal minoxidil syndrome
Fetal parainfluenza virus type 3 syndrome
Fetal parvovirus syndrome
Fetal phenothiazine syndrome
Fetal retinoid syndrome
Fetal thalidomide syndrome
Fetal valproate syndrome
FG syndrome
FG syndrome 2
FG syndrome 3
Fibrillary glomerulonephritis
Fibrinogen deficiency, congenital
Fibro-adipose vascular anomaly
Fibrocartilaginous embolism
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrolamellar carcinoma
Fibromatosis multiple non ossifying
Fibrosarcoma
Fibrosing mediastinitis
Fibrous dysplasia
Fibula aplasia complex brachydactyly
Fibular aplasia 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
Fitz-Hugh-Curtis syndrome
Fitzsimmons syndrome
Fitzsimmons Walson Mellor syndrome
Fitzsimmons-Guilbert 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
Foix Chavany Marie syndrome
Follicle-stimulating hormone deficiency, isolated
Follicular lymphoma
Follicular lymphoreticuloma
Fontaine Farriaux Blanckaert syndrome
Formaldehyde poisoning
Fountain syndrome
Fournier gangrene
Fowler’s syndrome
Fox-Fordyce disease
FOXG1 syndrome
Fragile X syndrome
Fragile X syndrome type 1
Fragile X syndrome type 2
Fragile X syndrome type 3
Fragile XE syndrome
Franceschini Vardeu Guala syndrome
Frank Ter Haar syndrome
Fraser Jequier Chen syndrome
Fraser syndrome
Frasier syndrome
FRAXD
Free sialic acid storage disease
Freeman Sheldon syndrome
Freiberg’s disease
Frenkel Russe syndrome
Frey’s syndrome
Frias syndrome
Friedel Heid Grosshans syndrome
Friedman Goodman syndrome
Friedreich ataxia
Frints De Smet Fabry Fryns syndrome
Froelich syndrome
Frontal fibrosing alopecia
Fronto nasal malformation cloacal exstrophy
Frontofacionasal dysplasia
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia acromelic
Frontonasal dysplasia Klippel Feil syndrome
Frontonasal dysplasia phocomelic upper limbs
Frontonasal dysplasia with alopecia and genital anomaly
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontorhiny
Frontotemporal dementia
Frontotemporal dementia, ubiquitin-positive
Froster-Huch syndrome
Fructose-1,6-bisphosphatase deficiency
Fryns Fabry Remans syndrome
Fryns Hofkens Fabry syndrome
Fryns smeets thiry syndrome
Fryns syndrome
Fuchs heterochromic iridocyclitis
Fucosidosis
Fucosidosis type 1
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
Gait ataxia with late onset polyneuropathy syndrome
Galactocele
Galactokinase deficiency
Galactorrhoea-Hyperprolactinaemia
Galactose epimerase deficiency
Galactosemia
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
Gas bloat syndrome
Gastric duplication cysts
Gastric lymphoma
Gastro-enteropancreatic neuroendocrine tumor
Gastrocutaneous syndrome
Gastrointestinal Stromal Tumors
Gastroparesis
Gastroschisis
GATA2 deficiency
GATAD2B-associated neurodevelopmental disorder
Gaucher disease
Gaucher disease – ophthalmoplegia – cardiovascular calcification
Gaucher disease perinatal lethal
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher ichthyosis restrictive dermopathy
Gaucher-like disease
Gay Feinmesser Cohen syndrome
Gelatinous ascites
Geleophysic dwarfism
Gemignani syndrome
Generalized junctional epidermolysis bullosa, non-Herlitz type
Generalized peeling skin syndrome
Generalized pustular psoriasis
Generalized resistance to thyroid hormone
Genetic reflex epilepsy
Genital dwarfism
Genital dwarfism, Turner type
Genito palato cardiac syndrome
Genitopatellar syndrome
Genoa syndrome
Genochondromatosis
Genu valgum, st Helena familial
Genuine diffuse phlebectasia
Germ cells tumors
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 ganglionic hyperplasia
Giant mammary hamartoma
Giant papillary conjunctivitis
Giant platelet syndrome
Gigantism
Gigantism advanced bone age hoarse cry
Gigantomastia
Gillespie syndrome
Gingival fibromatosis with distinctive facies
Gingival fibromatosis with hypertrichosis
Gingival fibromatosis, 1
Gingival fibromatosis, 2
Gingival fibromatosis, 3
Gingival fibromatosis, 4
Gitelman syndrome
Glanders
Glanzmann thrombasthenia
Glass-Chapman-Hockley syndrome
Glassy cell carcinoma of the cervix
Glaucoma 3 primary infantile B
Glaucoma iridogoniodysgenesia
Glaucoma sleep apnea
Glaucoma type 1C
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
Glucagonoma syndrome
Glucocorticoid resistance
Glucocorticoid-remediable aldosteronism
Glucose transporter type 1 deficiency syndrome
Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate translocase deficiency
Glucose-galactose malabsorption
Glucosephosphate isomerase deficiency
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 8
Glycogen storage disease type 0, liver
Glycogen storage disease type 0, muscle
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 2
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 7
Glycoprotein VI deficiency
Glycoproteinosis
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
GMPPA-CDG
GMS syndrome
GNAO1 encephalopathy
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
Goodman syndrome
Goodpasture syndrome
Gordon syndrome
Gorham’s disease
Gorlin Bushkell Jensen syndrome
Gorlin Chaudhry Moss syndrome
GOSR2-related progressive myoclonus ataxia
Gouty nephropathy, familial
Gracile bone dysplasia
GRACILE syndrome
Graham Boyle Troxell syndrome
Graham-Cox syndrome
Graham-Little-Piccardi-Lassueur syndrome
Grand Kaine Fulling syndrome
Grant syndrome
Granular cell tumor
Granulocytopenia
Granuloma annulare
Granuloma Inguinale
Granulomas, congenital cerebral
Granulomatosis with polyangiitis
Granulomatous Amebic Encephalitis
Granulomatous hypophysitis
Granulomatous lobular mastitis
Granulomatous rosacea
Granulomatous slack skin disease
Granulosa cell tumor of the ovary
Graphite Pneumoconiosis
Graves’ disease
Gray platelet syndrome
Gray zone lymphoma
Green Sandford Davison syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
GRIN2B related syndrome
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grix Blankenship Peterson syndrome
Groenouw type I corneal dystrophy
Groll Hirschowitz syndrome
Group B strep disease in newborns
Growth hormone deficiency
Growth hormone insensitivity with immunodeficiency
Growth retardation alopecia pseudoanodontia optic
Growth retardation hydrocephaly lung hypoplasia
Grubben de Cock Borghgraef syndrome
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Guillain-Barre syndrome
Guizar Vasquez Sanchez Manzano syndrome
Gupta Patton syndrome
Gurrieri syndrome
Guttate psoriasis
Gynandroblastoma
Gyrate atrophy of choroid and retina
Haemophilus influenzae
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Hairy cell leukemia
Hairy elbows
Hairy nose tip
Hairy palms and soles
Halal Setton Wang syndrome
Halal syndrome
Hall-Riggs syndrome
Hallermann-Streiff syndrome
Halo nevi
Hamanishi Ueba Tsuji syndrome
Hand and foot deformity with flat facies
Hand foot uterus syndrome
HaNDL syndrome
Hanhart syndrome
Hansen’s disease
Hantavirus pulmonary syndrome
Hard skin syndrome Parana type
Hardikar syndrome
Harding ataxia
Harlequin ichthyosis
Harlequin syndrome
Harrod Doman Keele syndrome
Hartnup disease
Hashimoto encephalopathy
Hashimoto-Pritzker syndrome
Hawkinsinuria
Hay-Wells syndrome
Heart defect, tongue hamartoma and polysyndactyly
Heart tumor
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
Heavy metal poisoning
HEC syndrome
Heinz body anemias
HELLP syndrome
Helminthiasis
Hemangioblastoma
Hemangioendothelioma
Hemangioma thrombocytopenia syndrome
Hemangiomatosis, familial pulmonary capillary
Hemangiopericytoma
Hematohidrosis
Hemeralopia, congenital essential
Hemeralopia, familial
Hemi 3 syndrome
Hemicrania continua
Hemifacial atrophy agenesis of the caudate nucleus
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hemifacial myohyperplasia
Hemihypertrophy
Hemimegalencephaly
Hemiplegia
Hemiplegic migraine
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemochromatosis type 5
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin SC disease
Hemoglobin Zurich
Hemoglobinemia
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
Hemolytic uremic syndrome
Hemolytic uremic syndrome, atypical, childhood
Hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis, familial, 2
Hemophagocytic lymphohistiocytosis, familial, 3
Hemophagocytic lymphohistiocytosis, familial, 4
Hemophagocytic reticulosis
Hemophilia
Hemophilia A
Hemophilia B
Hemophilic arthropathy
Hemorrhagic fever
Hemorrhagic proctocolitis
Hemorrhagic shock and encephalopathy syndrome
Hemosiderosis
Hennekam syndrome
Hennekam Van der Horst syndrome
Henoch-Schonlein purpura
Hepadnavirus infection
Heparane sulfamidase deficiency
Heparin-induced thrombocytopenia
Hepatic cystic hamartoma
Hepatic encephalopathy
Hepatic lipase deficiency
Hepatic veno-occlusive disease
Hepatic venoocclusive disease with immunodeficiency
Hepatitis E
Hepatoblastoma
Hepatoerythropoietic porphyria
Hepatopulmonary syndrome
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Hereditary antithrombin deficiency
Hereditary antithrombin deficiency type 2
Hereditary antithrombin deficiency type I
Hereditary ataxia
Hereditary cerebral hemorrhage with amyloidosis
Hereditary congenital facial paresis
Hereditary coproporphyria
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary elliptocytosis
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary geniospasm
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary hyperekplexia
Hereditary hyperuricemia
Hereditary koilonychia
Hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type II
Hereditary methemoglobinemia
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy type 5
Hereditary mucoepithelial dysplasia
Hereditary multiple osteochondromas
Hereditary myopathy with intranuclear filamentous
Hereditary neuralgic amyotrophy
Hereditary neuropathy with liability to pressure palsy
Hereditary nodular heterotopia
Hereditary orotic aciduria without megaloblastic anaemia
Hereditary pancreatitis
Hereditary paraganglioma-pheochromocytoma
Hereditary peripheral nervous disorder
Hereditary 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 1E
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory neuropathy type 1
Hereditary spastic paraplegia
Hereditary spherocytosis
Hereditary type 1 neuropathy
Hereditary type 2 neuropathy
Hereditary vascular retinopathy
Hermansky Pudlak syndrome 2
Hermansky-Pudlak syndrome
Hernández-Aguirre Negrete syndrome
Herpes simiae (B virus)
Herpes simplex encephalitis
Herpes virus antenatal infection
Herpes zoster ophthalmicus
Herpes zoster oticus
Herpesvirus simiae B virus
Herpetic embryopathy
Herrmann Opitz arthrogryposis syndrome
Herrmann Opitz craniosynostosis
Herrmann syndrome
Hersh Podruch Weisskopk syndrome
Heterotaxy
HHV-6 encephalitis
HIBCH deficiency
Hidradenocarcinoma
High molecular weight kininogen deficiency
Hillig syndrome
Hing Torack Dowston syndrome
Hip luxation
Hip subluxation
Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease polydactyly heart disease
Hirschsprung disease type 2
Hirschsprung disease type 3
Hirschsprung disease type d brachydactyly
Hirschsprung microcephaly cleft palate
Hirschsprung nail hypoplasia dysmorphism
Hirschsprung’s disease
His bundle tachycardia
Histidinemia
Histidinuria renal tubular defect
Histiocytosis-lymphadenopathy plus syndrome
HIVEP2-related intellectual disability
Hm syndrome
HMG CoA lyase deficiency
HMG CoA synthetase deficiency
Ho Kaufman Mcalister syndrome
Hodgkin disease, X-linked pseudoautosomal
Hodgkin lymphoma
Hodgkin lymphoma, childhood
Hodgkin lymphoma, during pregnancy
Holmes Borden syndrome
Holoacardius amorphus
Holocarboxylase synthetase deficiency
Holoprosencephaly
Holoprosencephaly caudal dysgenesis
Holoprosencephaly ectrodactyly cleft lip palate
Holoprosencephaly, recurrent infections, and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
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
Hoon Hall syndrome
Hordnes Engebretsen Knudtson syndrome
Horizontal gaze palsy with progressive scoliosis
Horn Kolb syndrome
Horner’s syndrome
Houlston Ironton Temple syndrome
Hoyeraal Hreidarsson syndrome
HTLV-1 associated myelopathy/tropical spastic paraparesis
Human granulocytic ehrlichiosis
Human monocytic ehrlichiosis
Human spumaretrovirus infection
Human T-cell leukemia virus type 1
Human T-cell leukemia virus type 2
Human T-cell leukemia virus type 3
Humeroradial synostosis
Humeroradioulnar synostosis
Hunter Carpenter Macdonald syndrome
Hunter Macpherson syndrome
Hunter Mcdonald syndrome
Hunter Rudd Hoffmann syndrome
Hunter-McAlpine syndrome
Huntington disease
Hurler syndrome
Hurler–Scheie syndrome
Hurst Hallam Hockey syndrome
Hurthle cell thyroid cancer
Hutchinson incisors
Hutterite cerebroosteonephrodysplasia syndrome
Hyaline fibromatosis syndrome
Hyalinosis systemic short stature
Hydatidiform mole
Hydatidosis
Hydranencephaly
Hydroa vacciniforme
Hydroa vacciniforme, familial
Hydrocephalus autosomal recessive
Hydrocephalus craniosynostosis bifid nose
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Hydrocephalus growth retardation skeletal anomalies
Hydrocephalus obesity hypogonadism
Hydrocephalus skeletal anomalies
Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
Hydrocephalus-cleft palate-joint contractures syndrome
Hydrocephaly corpus callosum agenesis diaphragmatic hernia
Hydrolethalus syndrome
Hydronephrosis peculiar facial expression
Hydrops ectrodactyly syndactyly
Hydrops fetalis
Hydrops fetalis anemia immune disorder absent thumb
Hydroxycarboxylic aciduria
Hydroxykynureninuria
Hydroxyprolinemia
Hygroma cervical
Hymenolepiasis
Hyper IgE syndrome
Hyper-IgD syndrome
Hyper-reninism
Hyperacusis
Hyperadrenalism
Hyperbetaalaninemia
Hyperbilirubinemia transient familial neonatal
Hyperbilirubinemia type 2
Hypercalcinuria macular coloboma
Hypercementosis
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypereosinophilic syndrome
Hyperferritinemia cataract syndrome
Hyperglycerolemia
Hypergonadotropic ovarian failure, familial or sporadic
Hyperinsulinemic hypoglycemia familial 2
Hyperinsulinemic hypoglycemia familial 3
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism, diffuse
Hyperinsulinism, focal
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemic periodic paralysis
Hyperkeratosis lenticularis perstans
Hyperlipidemia type 3
Hyperlipoproteinemia type 4
Hyperlipoproteinemia type 5
Hyperlysinemia
Hypermanganesemia with dystonia polycythemia and cirrhosis
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermobile Ehlers-Danlos syndrome
Hyperostosis cortical infantile
Hyperostosis corticalis generalisata
Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
Hyperostosis-hyperphosphatemia syndrome
Hyperparathyroidism-jaw tumor syndrome
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphosphatemic familial tumoral calcinosis
Hyperprolinemia
Hyperprolinemia type 2
Hypersensitivity pneumonitis
Hypersensitivity vasculitis
Hypertelorism and tetralogy of Fallot
Hypertensive hypokalemia familial
Hyperthermia induced defects
Hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa, acquired
Hypertrichosis universalis
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Hypertrophic branchial myopathy
Hypertrophic hemangiectasia
Hypertrophic neuropathy of Dejerine-Sottas
Hypertrophic olivary degeneration
Hypertryptophanemia
Hypnic headache
Hypoadrenalism
Hypoaldosteronism
Hypocalcemia, autosomal dominant
Hypochondroplasia
Hypochromic microcytic anemia with iron overload
Hypocomplementemic urticarial vasculitis
Hypodermyasis
Hypodontia of incisors and premolars
Hypodontia, X-linked
Hypofibrinogenemia, familial
Hypoganglionosis
Hypoglycemia with deficiency of glycogen synthetase in the liver
Hypogonadism cardiomyopathy
Hypogonadism primary partial alopecia
Hypogonadism, isolated, hypogonadotropic
Hypogonadotropic hypogonadism without anosmia, X-linked
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia autosomal dominant
Hypohidrotic ectodermal dysplasia autosomal recessive
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Hypohidrotic ectodermal dysplasia with immune deficiency
Hypokalemic periodic paralysis
Hypoketonemic hypoglycemia
Hypolipoproteinemia
Hypomandibular faciocranial dysostosis
Hypomelanosis of Ito
Hypomelanotic disorder
Hypomelia mullerian duct anomalies
Hypomyelination and congenital cataract
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypoparathyroidism
Hypoparathyroidism familial isolated
Hypoparathyroidism X-linked
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypopharyngeal cancer
Hypophosphatasia
Hypophosphatemic rickets
Hypopituitarism
Hypoplasia hepatic ductular
Hypoplasia of the tibia with polydactyly
Hypoplastic left heart syndrome
Hypoplastic right heart syndrome
Hypoplastic thumb mullerian aplasia
Hypoplastic thumbs hydranencephaly
Hyporeninemic hypoaldosteronism
Hyposmia nasal hypoplasia hypogonadism
Hypospadias familial
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotelorism cleft palate hypospadias
Hypothalamic dysfunction
Hypothalamic hamartomas
Hypothyroidism due to iodide transport defect
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
Hypotonic sclerotic muscular dystrophy
Hypotrichosis simplex
Hypotrichosis-lymphedema-telangiectasia syndrome
Hypoxanthine guanine phosphoribosyltransferase deficiency
I cell disease
IBIDS syndrome
ICF syndrome
Ichthyosiform erythroderma, corneal involvement, deafness
Ichthyosis alopecia eclabion ectropion mental retardation
Ichthyosis bullosa of Siemens
Ichthyosis cheek eyebrow syndrome
Ichthyosis congenita biliary atresia
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hystrix gravior
Ichthyosis hystrix, Curth Macklin type
Ichthyosis lamellar 1
Ichthyosis lamellar 2
Ichthyosis lamellar 3
Ichthyosis lamellar, autosomal dominant
Ichthyosis linearis circumflexa
Ichthyosis prematurity syndrome
Ichthyosis tapered fingers midline groove up
Ichthyosis vulgaris
Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis, acquired
Ichthyosis, erythrokeratolysis hemalis
Ichthyosis, follicular
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, mental retardation, dwarfism and renal impairment
Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
Idiopathic achalasia
Idiopathic acute eosinophilic pneumonia
Idiopathic alveolar hypoventilation syndrome
Idiopathic basal ganglia calcification childhood-onset
Idiopathic CD4 positive T-lymphocytopenia
Idiopathic dilatation of the pulmonary artery
Idiopathic double athetosis
Idiopathic eosinophilic chronic pneumopathy
Idiopathic hypersomnia
Idiopathic hypertrophic pachymeningitis
Idiopathic inflammatory myopathy
Idiopathic intracranial hypertension
Idiopathic pulmonary fibrosis
Idiopathic pulmonary hemosiderosis
Idiopathic spinal cord herniation
Idiopathic subglottic tracheal stenosis
Idiopathic thrombocytopenic purpura
IgA nephropathy
IgG4-related dacryoadenitis and sialadenitis
IgG4-related disease
Iida Kannari syndrome
IL12RB1 deficiency
IMAGe syndrome
Imaizumi Kuroki syndrome
Imerslund-Grasbeck syndrome
Iminoglycinuria
Immotile cilia syndrome, due to defective radial spokes
Immune 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
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
Immunodeficiency without anhidrotic ectodermal dysplasia
Immunodeficiency, microcephaly with normal intelligence
Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Immunoglobulin A deficiency 2
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 2
Inclusion body myopathy 3
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Inclusion body myositis
Inclusion conjunctivitis
Incontinentia pigmenti
Indolent B cell lymphoma
Infant epilepsy with migrant focal crisis
Infantile apnea
Infantile axonal neuropathy
Infantile cerebellar retinal degeneration
Infantile choroidocerebral calcification syndrome
Infantile convulsions and paroxysmal choreoathetosis, familial
Infantile digital fibromatosis
Infantile free sialic acid storage disease
Infantile histiocytoid cardiomyopathy
Infantile liver failure syndrome 1
Infantile liver failure syndrome 2
Infantile myofibromatosis
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Infantile Parkinsonism-dystonia
Infantile recurrent chronic multifocal osteomyolitis
Infantile scoliosis
Infantile spasms broad thumbs
Infantile striato thalamic degeneration
Infantile-onset ascending hereditary spastic paralysis
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
Iniencephaly
Insulin autoimmune syndrome
Insulin-like growth factor 1 resistance to
Insulin-like growth factor I deficiency
Insulin-resistance type B
Insulin-resistant acanthosis nigricans, type A
Insulinoma
Intellectual deficit – short stature – hypertelorism
Intellectual deficit Buenos-Aires type
Intellectual disability – athetosis – microphthalmia
Intellectual disability – hypoplastic corpus callosum – preauricular tag
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Intercellular cholesterol esterification disease
Interferon gamma, receptor 1, deficiency
Intermediate congenital nemaline myopathy
Intermediate severe Salla disease
Internal carotid agenesis
Intestinal atresia multiple
Intestinal lymphangiectasia
Intestinal pseudo-obstruction
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intracranial aneurysms multiple congenital anomaly
Intracranial arteriovenous malformation
Intrahepatic cholangiocarcinoma
Intrahepatic cholestasis of pregnancy
Intraneural perineurioma
Intraocular melanoma
Intrathoracic kidney vertebral fusion
Intrauterine growth retardation – mandibular malar hypoplasia
Intrauterine growth retardation with increased mitomycin C sensitivity
Intrauterine infections
Intravascular papillary endothelial hyperplasia
Intravenous leiomyomatosis
Intrinsic factor deficiency
Iodine antenatal exposure
IQSEC2
IRAK-4 deficiency
IRF6-Related disorders
Iridocorneal endothelial syndrome
Iridogoniodysgenesis and skeletal anomalies
Iridogoniodysgenesis type 1
Iridogoniodysgenesis type 2
Iris hypoplasia and glaucoma
Iron-refractory iron deficiency anemia
Irons Bhan syndrome
IRVAN syndrome
Isaacs’ syndrome
Ischiadic hypoplasia renal dysfunction immunodeficiency
Isobutyryl-CoA dehydrogenase deficiency
Isochromosome Yp
Isodicentric chromosome 15 syndrome
Isolated 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
Isosporiasis
Isotretinoin embryopathy like syndrome
Isovaleric acidemia
Isthmian coarctation
ITCH E3 ubiquitin ligase deficiency
Ivemark syndrome
IVIC syndrome
Jackhammer esophagus
Jackson-Weiss syndrome
Jacobsen syndrome
Jaffer Beighton syndrome
Jamaican vomiting sickness
Jankovic Rivera syndrome
Jansen type metaphyseal chondrodysplasia
Japanese encephalitis
Jejunal atresia
Jejunal atresia with renal adysplasia
Jensen syndrome
Jervell and Lange-Nielsen syndrome 2
Jervell Lange-Nielsen syndrome
Jeune syndrome
Jeune syndrome situs inversus
JMP syndrome
Johanson-Blizzard syndrome
Johnson Hall Krous syndrome
Johnson Munson syndrome
Johnson neuroectodermal syndrome
Johnston Aarons Schelley syndrome
Jones Hersh Yusk syndrome
Jones syndrome
Jorgenson Lenz syndrome
Joubert syndrome
Joubert syndrome 2
Joubert syndrome with ocular anomalies
Joubert syndrome with oculorenal anomalies
Joubert syndrome with renal anomalies
Juberg Marsidi syndrome
Juberg-Hayward syndrome
Judge Misch Wright syndrome
Jumping Frenchmen of Maine
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
Jung Wolff Back Stahl syndrome
Juvenile amyotrophic lateral sclerosis
Juvenile dermatomyositis
Juvenile Huntington disease
Juvenile macular degeneration and hypotrichosis
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile ossifying fibroma
Juvenile osteoporosis
Juvenile Paget disease
Juvenile polymyositis
Juvenile polyposis syndrome
Juvenile primary lateral sclerosis
Juvenile retinoschisis
Juvenile spondyloarthropathy
Juvenile temporal arteritis
Juvenile-onset dystonia
Juvenile-onset small-fiber polyneuropathy
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
Kaposi sarcoma
Kaposiform Hemangioendothelioma
Kapur Toriello syndrome
Karak syndrome
Karandikar Maria Kamble syndrome
Kartagener syndrome
Karyomegalic interstitial nephritis
Kashani Strom Utley syndrome
Kasznica Carlson Coppedge syndrome
Katsantoni Papadakou Lagoyanni syndrome
Kaufman oculocerebrofacial syndrome
Kawasaki disease
KBG syndrome
KCNQ2-Related Disorders
Kearns-Sayre syndrome
Kennedy disease
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Keratitis, hereditary
Keratoconus
Keratoconus posticus circumscriptus
Keratoderma palmoplantar deafness
Keratoderma palmoplantar spastic paralysis
Keratoderma palmoplantaris transgrediens
Keratolytic winter erythema
Keratomalacia
Keratosis follicularis dwarfism and cerebral atrophy
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris adenocarcinoma of the colon
Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 3
Kerion celsi
Kernicterus
Keshan disease
Keutel syndrome
KID syndrome
Kidney cancer, childhood
Kienbock’s disease
Kifafa seizure disorder
Kikuchi disease
Kimura disease
Kindler syndrome
King Denborough syndrome
Kingella infections
Klatskin tumor
Klebsiella infection
Kleeblattschaedel syndrome
Kleefstra syndrome
Kleine Levin syndrome
Kleiner Holmes 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 Majewski Hammerstein syndrome
Kuster syndrome
Kuzniecky Andermann syndrome
Kyasanur Forest disease
Kyphomelic dysplasia
Kyphoscoliotic Ehlers-Danlos syndrome
Kyrle disease
L-2-hydroxyglutaric aciduria
L-arginine:glycine amidinotransferase deficiency
L1 syndrome
La Crosse encephalitis
Laband syndrome
Labrador lung
Lachiewicz Sibley syndrome
Lacrimo-auriculo-dento-digital syndrome
Lactate dehydrogenase A deficiency
Lactate dehydrogenase B deficiency
Lactate dehydrogenase deficiency
Lactate dehydrogenase deficiency type C
Lactic acidosis congenital infantile
Lactobezoar
Lafora disease
Lagophthalmia cleft lip palate
Laing distal myopathy
Lambdoid synostosis
Lambert Eaton myasthenic syndrome
Lambert syndrome
Lamellar ichthyosis
Landau-Kleffner syndrome
Landy-Donnai syndrome
Langer mesomelic dysplasia
Langer Nishino Yamaguchi syndrome
Langerhans cell histiocytosis
Langerhans cell sarcoma
Large granular lymphocyte leukemia
Laron syndrome
Larsen syndrome
Larsen-like syndrome
Laryngeal cancer
Laryngeal cancer, childhood
Laryngeal cleft
Laryngeal papillomatosis
Laryngocele
Laryngomalacia
Laryngoonychocutaneous syndrome
Larynx atresia
Larynx, congenital partial atresia of
Late-onset distal myopathy, Markesbery-Griggs type
Late-Onset Familial Alzheimer Disease
Late-onset junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Late-onset retinal degeneration
Lateral body wall defect
Lateral meningocele syndrome
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
Laterality defects dominant
Lathosterolosis
Lathyrism
Lattice corneal dystrophy type 1
Lattice corneal dystrophy type 3A
Laugier-Hunziker syndrome
Laurence Prosser Rocker syndrome
Laurence-Moon syndrome
Laurin-Sandrow syndrome
LCAD deficiency
LCHAD deficiency
Le Marec Bracq Picaud syndrome
Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber hereditary optic neuropathy
Leber hereditary optic neuropathy with dystonia
Ledderhose disease
Left ventricular noncompaction
Left-sided gallbladder
Leg absence deformity cataract
Legg-Calve-Perthes disease
Legionellosis
Legius syndrome
Leigh syndrome
Leigh syndrome, French Canadian type
Leiner disease
Leiomyoma of vulva and esophagus
Leiomyomatosis familial
Leiomyomatosis of esophagus, cataract and hematuria
Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyosarcoma
Leishmaniasis
Leisti Hollister Rimoin syndrome
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 3
Lethal congenital contracture syndrome 4
Lethal short limb skeletal dysplasia Al Gazali type
Leucine-sensitive hypoglycemia of infancy
Leucocyte adhesion defect
Leukemia subleukemic
Leukemia, B-cell, chronic
Leukemia, T-cell, chronic
Leukocyte adhesion deficiency type 1
Leukodystrophy
Leukodystrophy with oligodontia
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
Leukodystrophy, hypomyelinating 3
Leukodystrophy, pseudometachromatic
Leukoencephalopathy – dystonia – motor neuropathy
Leukoencephalopathy palmoplantar keratoderma
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
Leukoencephalopathy, cerebral calcifications, and cysts
Leukomalacia
Leukomelanoderma mental redardation hypotrichosis
Leukonychia totalis
Leukoplakia
Levator syndrome
Levic Stefanovic Nikolic syndrome
Levotransposition of the great arteries
Levy-Yeboa syndrome
Lewis-Sumner syndrome
Leydig cell hypoplasia
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Lichen planopilaris
Lichen planus pemphigoides
Lichen planus pigmentosus
Lichen sclerosus
Lichtenstein syndrome
Liddle syndrome
Light chain deposition disease
Ligneous conjunctivitis
Limb deficiencies distal with micrognathia
Limb reduction defect
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 1C
Limb-girdle muscular dystrophy type 1D
Limb-girdle muscular dystrophy type 1E
Limb-girdle muscular dystrophy type 1F
Limb-girdle muscular dystrophy type 1G
Limb-girdle muscular dystrophy type 1H
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 2J
Limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy type 2L
Limb-girdle muscular dystrophy type 2M
Limb-girdle muscular dystrophy type 2N
Limb-girdle muscular dystrophy type 2O
Limb-girdle muscular dystrophy type 2P
Limb-girdle muscular dystrophy type 2Q
Limb-girdle muscular dystrophy type 2S
Limb-girdle muscular dystrophy type 2T
Limb-girdle muscular dystrophy, type 2C
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2G
Limb-mammary syndrome
Limbic encephalitis
Limbic encephalitis with LGI1 antibodies
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Lin-Gettig syndrome
Linear and whorled nevoid hypermelanosis
Linear hamartoma syndrome
Linear IgA disease
Linear lichen planus
Linear nevus sebaceous syndrome
Linear porokeratosis
Linear scleroderma
Lip and oral cavity cancer
Lipase deficiency combined
LIPE-related familial partial lipodystrophy
Lipedematous Scalp
Lipidosis with triglycerid storage disease
Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
Lipoblastoma
Lipodermatosclerosis
Lipodystrophy due to peptidic growth factors deficiency
Lipodystrophy, familial partial, type 5
Lipogranulomatosis
Lipoic acid biosynthesis defects
Lipoic acid synthetase deficiency
Lipoid proteinosis of Urbach and Wiethe
Lipomyelomeningocele
Liposarcoma
Lissencephaly
Lissencephaly 1
Lissencephaly 2
Lissencephaly X-linked
Listeria infection
Littoral cell angioma of the spleen
Livedoid vasculopathy
Localized hypertrophic neuropathy
Localized junctional epidermolysis bullosa, non-Herlitz type
Localized lipodystrophy
Localized scleroderma
Locked-in syndrome
Lockwood Feingold syndrome
Loeys-Dietz syndrome
Loeys-Dietz syndrome type 1
Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome type 3
Loeys-Dietz syndrome type 4
Logopenic progressive aphasia
Loiasis
Loin pain hematuria syndrome
Long QT syndrome 1
Long QT syndrome 10
Long QT syndrome 11
Long QT syndrome 2
Long QT syndrome 3
Long QT syndrome 4
Long QT syndrome 5
Long QT syndrome 6
Long QT syndrome 9
Loose anagen hair syndrome
Lopes Gorlin syndrome
Lowe oculocerebrorenal syndrome
Lower mesodermal defects sequence
Lowry Maclean syndrome
Lowry Wood syndrome
LRBA deficiency
Lubani Al Saleh Teebi syndrome
Lubinsky syndrome
Lucey-Driscoll syndrome
Lujan syndrome
Lumbar malsegmentation short stature
Lung adenocarcinoma
Lung agenesis
Lupus erythematosus tumidus
Lupus nephritis
Lymph Node Neoplasm
Lymphangiectasis
Lymphangioleiomyomatosis
Lymphangiomatosis
Lymphatic filariasis
Lymphatic malformations
Lymphedema and cerebral arteriovenous anomaly
Lymphedema,  microcephaly and chorioretinopathy syndrome
Lymphedema-distichiasis syndrome
Lymphoblastic lymphoma
Lymphocytes absent
Lymphocytic hypophysitis
Lymphocytic infiltrate of Jessner
Lymphocytic vasculitis
Lymphogranuloma venereum
Lymphoma AIDS related
Lymphoma, gastric non Hodgkins type
Lymphoma, large-cell
Lymphoma, large-cell, immunoblastic
Lymphomatoid granulomatosis
Lymphomatoid papulosis
Lymphomatous thyroiditis
Lymphosarcoma
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
Mac Dermot Winter syndrome
Macrocephaly mesodermal hamartoma spectrum
Macrocephaly, benign familial
Macrocephaly-short stature-paraplegia syndrome
Macrodactyly of the foot
Macrodactyly of the hand
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macroglossia
Macrophage activation syndrome
Macrophagic myofasciitis
Macrosomia with lethal microphthalmia
Macrothrombocytopenia progressive deafness
Macrozoospermia
Macular dystrophy, atypical vitelliform
Macular dystrophy, concentric annular
Macular dystrophy, corneal type 1
Macules hereditary congenital hypopigmented and hyperpigmented
Madelung deformity
Madokoro Ohdo Sonoda syndrome
Maffucci syndrome
MAGIC syndrome
Mahvash disease
Majeed syndrome
Mal de debarquement syndrome
Malakoplakia
Malaria
Male infertility with spermatogenesis disorder due to single gene mutation
Male pseudohermaphroditism due to defective LH molecule
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Malignant cylindroma
Malignant eccrine spiradenoma
Malignant ectomesenchymoma
Malignant germ cell tumor
Malignant hyperthermia
Malignant hyperthermia arthrogryposis torticollis
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Malignant 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
MAN1B1-CDG
Mandibuloacral dysplasia
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis with microcephaly
Manitoba oculotrichoanal syndrome
Mannosidosis, beta A, lysosomal
Manouvrier syndrome
Mansonelliasis
Mantle cell lymphoma
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Maple syrup urine disease type 2
Marburg hemorrhagic fever
Marchiafava Bignami disease
Marcus Gunn phenomenon
Marden Walker like syndrome
Marden-Walker syndrome
Marek disease
Marfan syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marfanoid hypermobility syndrome
Marginal glioneuronal heterotopia
Marginal zone lymphoma
Marie Unna congenital hypotrichosis
Marinesco-Sjogren syndrome
Marinesco-Sjogren-like syndrome (MSLS)
Markel Vikkula Mulliken syndrome
Maroteaux Fonfria syndrome
Maroteaux Stanescu Cousin syndrome
Marphanoid syndrome type De Silva
Marsden Nyhan Sakati syndrome
Marshall syndrome
Marshall-Smith syndrome
Martinez Monasterio Pinheiro syndrome
Martsolf syndrome
MASS syndrome
Massa Casaer Ceulemans syndrome
Mast cell activation syndrome
Mastocytic enterocolitis
Mastocytosis
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Mastroiacovo De Rosa Satta syndrome
Mastroiacovo Gambi Segni syndrome
Maternal hyperphenylalaninemia
Maternally inherited diabetes and deafness
Matsoukas Liarikos Giannika syndrome
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young,  type 1
Maturity-onset diabetes of the young,  type 2
Maturity-onset diabetes of the young, type 3
Maturity-onset diabetes of the young, type 4
Maturity-onset diabetes of the young, type 5
Maturity-onset diabetes of the young, type 6
Maturity-onset diabetes of the young, type 7
Maturity-onset diabetes of the young, type 8
Maturity-onset diabetes of the young, type 9
Maumenee syndrome
Maxillary double lip
Maxillofacial dysostosis
Maxillonasal dysplasia, Binder type
May-Thurner syndrome
MBD25–related intellectual disability
McCallum Macadam Johnston syndrome
McCune-Albright syndrome
McDonough syndrome
McDowall syndrome
McGillivray syndrome
McKusick Kaufman syndrome
McLeod neuroacanthocytosis syndrome
McPherson Clemens syndrome
McPherson Robertson Cammarano syndrome
MDP syndrome
Meacham Winn Culler syndrome
Measles
Meckel syndrome
Meckel syndrome type 2
Meckel syndrome type 3
Meconium aspiration syndrome
MECP2 duplication syndrome
MED13L haploinsufficiency syndrome
MED23
Medeira-Dennis-Donnai syndrome
Medial Medullary Syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Median nodule of the upper lip
Mediastinal endodermal sinus tumors
Medium-chain 3-ketoacyl-coa thiolase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medrano Roldan syndrome
Medullary sponge kidney
Medulloblastoma
Medulloblastoma, childhood
Meesmann corneal dystrophy
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and/or megacystis
Megaepiphyseal dwarfism
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-capillary malformation syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Megalocornea – spherophakia – secondary glaucoma
Megalocornea-intellectual disability syndrome
Megalocytic interstitial nephritis
Megarbane Jalkh syndrome
Megarbane syndrome
MEGDEL syndrome
Mehes syndrome
Mehta Lewis Patton syndrome
Meier Blumberg Imahorn syndrome
Meier-Gorlin syndrome
Meige syndrome
Meigel disease
Meinecke syndrome
Melanocytic lesions of CNS
Melanoma astrocytoma syndrome
Melanoma, familial
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
Meningioma
Meningocele
Meningococcal infection
Meningococcemia
Meningoencephalocele
Menkes disease
Mental retardation macrocephaly coarse facies hypotonia
Mental retardation short stature microcephaly eye
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation X-linked syndromic 11
Mental retardation X-linked syndromic 7
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Mental retardation, X-linked 14
MEPAN syndrome
Meralgia paresthetica
Mercury poisoning
Merkel cell carcinoma
Merlob Grunebaum Reisner syndrome
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
Metatropic dysplasia
Methemoglobinemia, beta-globin type
Methimazole antenatal exposure
Methionine adenosyltransferase deficiency
Methylcobalamin deficiency cbl G type
Methylcobalamin deficiency, cbl E complementation type
Methylmalonic acidemia
Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic aciduria microcephaly cataract
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Methylmalonyl-Coenzyme A mutase deficiency
Mevalonic aciduria
MGAT2-CDG (CDG-IIa)
MHC class 1 deficiency
Michelin tire baby syndrome
Michels Caskey syndrome
Micro syndrome
Microbrachycephaly ptosis cleft lip
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, Montreal type
Microcephaly
Microcephaly autosomal dominant
Microcephaly brain defect spasticity hypernatremia
Microcephaly cervical spine fusion anomalies
Microcephaly chorioretinopathy recessive form
Microcephaly deafness syndrome
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly hypergonadotropic hypogonadism short stature
Microcephaly microcornea syndrome Seemanova type
Microcephaly micropenis convulsions
Microcephaly microphthalmos blindness
Microcephaly nonsyndromal
Microcephaly pontocerebellar hypoplasia dyskinesia
Microcephaly with chorioretinopathy, autosomal dominant form
Microcephaly with spastic quadriplegia
Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Microcephaly, holoprosencephaly, and intrauterine growth retardation
Microcephaly, seizures, and developmental delay
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiomyopathy
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microcornea  posterior megalolenticonus  persistent fetal vasculature coloboma
Microcornea corectopia macular hypoplasia
Microcornea, glaucoma, and absent frontal sinuses
Microcystic adnexal carcinoma
Microcystic lymphatic malformation
Microdontia hypodontia short stature
Microduplication Xp11.22-p11.23 syndrome
Microencephaly
Microgastria limb reduction defect
Microhydranencephaly
Microphthalmia
Microphthalmia associated with colobomatous cyst
Microphthalmia microtia fetal akinesia
Microphthalmia syndromic 10
Microphthalmia syndromic 4
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microphthalmia with cataract 1
Microphthalmia with linear skin defects syndrome
Microscopic polyangiitis
Microsomia hemifacial radial defects
Microspherophakia with hernia
Microsporidiosis
Microtia eye coloboma and imperforation of the nasolacrimal duct
Microtia, meatal atresia and conductive deafness
Microtia-Anotia
Microvillus inclusion disease
Midline cleft of lower lip
Midline lethal granuloma
Midphalangeal hair
Mietens-Weber syndrome
Migraine with brainstem aura
Mild phenylketonuria
Miller syndrome
Miller-Dieker syndrome
Miller-Fisher syndrome
Milner Khallouf Gibson syndrome
Milroy disease
Minicore myopathy with external ophthalmoplegia
Minicore myopathy, antenatal onset, with arthrogryposis
Minimal change disease
MIRAGE syndrome
Mirizzi syndrome
Mirror polydactyly segmentation and limbs defects
Misophonia
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial complex V deficiency
Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial genetic disorders
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mitochondrial trifunctional protein deficiency
Mitral atresia
Mitral 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
Miura syndrome
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
Monomelic amyotrophy
Mononeuritis multiplex
Montefiore syndrome
Morel’s ear
Morgagni-Stewart-Morel syndrome
Morgellons
MORM syndrome
Morning glory syndrome
Morphea
Morquio syndrome B
Morse-Rawnsley-Sargent syndrome
Morvan’s fibrillary chorea
Mosaic 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
Motor neuro-ophthalmic disorders
Motor sensory neuropathy type 1 aplasia cutis congenita
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
Mucin-1 kidney disease
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
Muenke Syndrome
Muir-Torre syndrome
Mulibrey Nanism
Muller Barth Menger syndrome
Mullerian aplasia
Multicentric carpotarsal osteolysis syndrome
Multicentric Castleman Disease
Multicentric osteolysis nephropathy
Multicentric reticulohistiocytosis
Multicore disease
Multicystic renal dysplasia, bilateral
Multifocal choroiditis
Multifocal fibrosclerosis
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Multifocal motor neuropathy
Multiple carboxylase deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia 1
Multiple epiphyseal dysplasia 2
Multiple epiphyseal dysplasia 3
Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia 5
Multiple epiphyseal dysplasia 6
Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 1
Multiple familial trichoepithelioma 2
Multiple fibrofolliculoma familial
Multiple joint dislocations metaphyseal dysplasia
Multiple mitochondrial dysfunctions syndrome
Multiple myeloma
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome lethal type
Multiple pterygium syndrome X-linked
Multiple respiratory chain enzyme deficiencies
Multiple self healing squamous epithelioma
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
Multiple system atrophy
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
Myasthenia gravis
Myasthenia gravis congenital
Myasthenia gravis, limb-girdle
Mycetoma
Mycobacterium Abscessus
Mycobacterium Avium Complex
Mycobacterium Chelonae
Mycobacterium fortuitum
Mycobacterium Gordonae
Mycobacterium Kansasii
Mycobacterium Malmoense
Mycobacterium Marinum
Mycobacterium tuberculosis, susceptibility to infection by
Mycobacterium Xenopi
Mycoplasmal pneumonia
Mycosis fungoides
MYD88 deficiency
Myelitis
Myelocerebellar disorder
Myelocytic leukemia-like syndrome, familial, chronic
Myelodysplastic Syndrome With Excess Blasts
Myelodysplastic syndromes
Myelodysplastic/myeloproliferative disease
Myelofibrosis
Myeloid leukemia
Myeloid proliferations related to Down syndrome
Myeloid sarcoma
Myeloid splenomegaly
Myelomeningocele
Myeloperoxidase deficiency
MYH-associated polyposis
MYH7-related scapuloperoneal myopathy
MYH9 related thrombocytopenia
Myhre syndrome
Myocarditis
Myoclonic astatic epilepsy
Myoclonic epilepsy with ragged red fibers
Myoclonus cerebellar ataxia deafness
Myoclonus epilepsy
Myoclonus epilepsy partial seizure
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus-dystonia
Myoepithelial carcinoma
Myofibrillar lysis
Myofibrillar myopathy
Myoglobinuria dominant form
Myoglobinuria recurrent
Myokymia with neonatal epilepsy
Myopathic carnitine deficiency
Myopathy congenital
Myopathy mitochondrial cataract
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
Myosinopathies
Myostatin-related muscle hypertrophy
Myotonia atrophica
Myotonia congenita
Myotonic dystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myxoid liposarcoma
Myxopapillary ependymoma
Myxozoa
N acetyltransferase deficiency
N syndrome
N-acetyl-alpha-D-galactosaminidase deficiency type III
N-acetylglutamate synthase deficiency
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
Narrow oral fissure short stature cone shaped epiphyses
Nasal cavity cancer, childhood
Nasal polyposis, familial
Nasodigitoacoustic syndrome
Nasopalpebral lipoma coloboma syndrome
Nasopharyngeal cancer, childhood
Nasopharyngeal carcinoma
Natal teeth, intestinal pseudoobstruction and patent ductus
Nathalie syndrome
Native American myopathy
Naxos disease
Necrobiosis lipoidica
Necrobiotic xanthogranuloma
Necrotizing autoimmune myopathy
Necrotizing enterocolitis
Necrotizing fasciitis
Negative rheumatoid factor polyarthritis
Neisseria meningitidis infection
Nelson syndrome
Nemaline myopathy
Neonatal adrenoleukodystrophy
Neonatal hemochromatosis
Neonatal herpes
Neonatal hypothyroidism
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal meningitis
Neonatal ovarian cyst
Neonatal progeroid syndrome
Neonatal severe hyperparathyroidism
Neonatal stroke
Neonatal systemic lupus erythematosus
Nephrocalcinosis
Nephrogenic diabetes insipidus
Nephrogenic Systemic Fibrosis
Nephronophthisis
Nephronophthisis familial adult spastic quadriparesis
Nephropathic cystinosis
Nephropathy familial with hyperuricemia
Nephropathy, deafness, and hyperparathyroidism
Nephrosclerosis
Nephrosis deafness urinary tract digital malformation
Nephrotic syndrome ocular anomalies
Nephrotic syndrome, idiopathic, steroid-resistant
Nestor-guillermo progeria syndrome
Netherton syndrome
Neu Laxova syndrome
Neuhauser Daly Magnelli syndrome
Neuhauser Eichner Opitz syndrome
Neural crest tumor
Neuroacanthocytosis
Neuroaxonal dystrophy renal tubular acidosis
Neuroblastoma
Neurocutaneous melanosis
Neurodegeneration with brain iron accumulation
Neuroectodermal endocrine syndrome
Neuroendocrine carcinoma of the cervix
Neuroendocrine tumor
Neuroepithelioma
Neurofaciodigitorenal syndrome
Neuroferritinopathy
Neurofibroma
Neurofibromatosis
Neurofibromatosis type 1
Neurofibromatosis type 2
Neurofibromatosis-Noonan syndrome
Neurofibrosarcoma
Neurogenic hypertension
Neuroleptic malignant syndrome
Neuroma biliary tract
Neuromyelitis optica
Neuromyelitis optica spectrum disorder
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 9
Neuronal interstitial dysplasia
Neuronal intranuclear inclusion disease
Neuropathy ataxia retinitis pigmentosa syndrome
Neuropathy sensory spastic paraplegia
Neuropathy, congenital, with arthrogryposis multiplex
Neuropathy, distal hereditary motor,  Jerash type
Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Russe type
Neurosyphilis
Neurotoxicity syndromes
Neutral lipid storage disease with myopathy
Neutropenia chronic familial
Neutropenia lethal congenital with eosinophilia
Neutropenia monocytopenia deafness
Neutrophil-specific granule deficiency
Nevi flammei, familial multiple
Nevoid basal cell carcinoma syndrome
Nevus comedonicus
Nevus comedonicus syndrome
Nevus mucinosis
Nevus of Ito
New daily-persistent headache
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
Non 24 hour sleep wake disorder
Non functioning pancreatic endocrine tumor
Non-A-E hepatitis
Non-dystrophic myotonic disorders
Non-Hodgkin lymphoma, childhood
Non-Hodgkin lymphoma, during pregnancy
Non-involuting congenital hemangioma
Non-Langerhans-Cell Histiocytosis
Non-lissencephalic cortical dysplasia
Non-small cell lung cancer, childhood
Nonbullous congenital ichthyosiform erythroderma
Nondystrophic myotonia
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
Nonseminomatous germ cell tumor
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonsyndromic hereditary sensorineural hearing loss
Nontuberculous mycobacterial lung disease
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan-like syndrome with loose anagen hair
Noonan-like/multiple giant cell lesion syndrome
Normokalemic periodic paralysis
Normophosphatemic familial tumoral calcinosis
Norrie disease
NORSE
North Carolina macular dystrophy
Northern epilepsy
Not otherwise specified 3-MGA-uria type
Nova syndrome
Novak syndrome
Nuclear gene-encoded Leigh syndrome
Nystagmus 1, congenital,  X- linked
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
O Donnell Pappas syndrome
Obesity due to congenital leptin deficiency
Occipital horn syndrome
Ochoa syndrome
Ochronosis
Ocular albinism type 1
Ocular cicatricial pemphigoid
Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
Ocular melanoma
Ocular motility disorders
Ocular Muscular Dystrophy
Ocular neuromyotonia
Ocular toxoplasmosis
Oculo digital syndrome
Oculo skeletal renal syndrome
Oculo-auriculo-vertebral spectrum
Oculo-cerebral dysplasia
Oculoauriculofrontonasal syndrome
Oculocerebral hypopigmentation syndrome type Preus
Oculocerebral syndrome with hypopigmentation
Oculocerebrocutaneous syndrome
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
Odonto onycho dysplasia with alopecia
Odontogenic myxoma
Odontoma
Odontoma dysphagia syndrome
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
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
Ophthalmoplegic Muscular dystrophy
Opisthorchiasis
Opitz G/BBB syndrome
Opsismodysplasia
Opsoclonus-myoclonus syndrome
Opthalmic icthyosis
Opthalmomandibulomelic dysplasia
Opthalmoplegia myalgia tubular aggregates
Opthalmoplegia progressive external scoliosis
Optic atrophy 1
Optic atrophy 1 and deafness
Optic atrophy 2
Optic atrophy 5
Optic atrophy 6
Optic atrophy opthalmoplegia ptosis deafness myopia
Optic atrophy polyneuropathy deafness
Optic nerve hypoplasia, familial bilateral
Optic neuritis
Optic pathway glioma
Opticoacoustic nerve atrophy dementia
Oral cancer
Oral leukoplakia
Oral pharyngeal disorders
Oral squamous cell carcinoma
Oral submucous fibrosis
Orbital lymphangioma
Orbital lymphoma
Orbital melanoma
Orbital varix
Organic acidemia
Organic mood syndrome
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Ornithinemia
Oro-mandibular-limb hypogenesis syndrome
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 12
Orofaciodigital syndrome 13
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Orofaciodigital syndromes
Oropharyngeal cancer, adult
Oropharyngeal cancer, childhood
Orotic aciduria type 1
Orstavik Lindemann Solberg syndrome
Oslam syndrome
OSMED Syndrome
Ossicular Malformations, familial
Osteoarthropathy of fingers familial
Osteochondritis dissecans
Osteochondroma
Osteochondrosis
Osteodysplasia familial Anderson type
Osteodysplasty precocious of Danks Mayne and Kozlowski
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenesis imperfecta Levin type
Osteogenesis imperfecta type I
Osteogenesis imperfecta type II
Osteogenesis imperfecta type III
Osteogenesis imperfecta type IV
Osteogenesis imperfecta type IX
Osteogenesis imperfecta type V
Osteogenesis imperfecta type VI
Osteogenesis imperfecta type VII
Osteogenesis imperfecta type VIII
Osteogenesis imperfecta type X
Osteogenesis imperfecta type XI
Osteoglophonic dysplasia
Osteolysis syndrome recessive
Osteomalacia
Osteomesopyknosis
Osteomyelitis
Osteopathia striata cranial sclerosis
Osteopathia striata with pigmentary dermopathy including white forelock
Osteopenia and sparse hair
Osteopetrosis
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopetrosis autosomal dominant type 1
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive 1
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 3
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 5
Osteopetrosis autosomal recessive 6
Osteopetrosis autosomal recessive 7
Osteopoikilosis
Osteopoikilosis and dacryocystitis
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Osteosclerosis abnormalities of nervous system and meninges
Osteosclerosis with ichthyosis and premature ovarian failure
Ostium secundum atrial septal defect
Oto-Palatal-digital syndrome
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Otodental dysplasia
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Otosclerosis, familial
Otulipenia
Ouvrier Billson syndrome
Ovarian cancer
Ovarian carcinosarcoma
Ovarian epithelial cancer
Ovarian germ cell tumor
Ovarian insufficiency due to FSH resistance
Ovarian insufficiency, familial
Ovarian low malignant potential tumor
Ovarian remnant syndrome
Ovarian sex cord tumor with annular tubules
Ovarian small cell carcinoma
Overgrowth radial ray defect arthrogryposis
Pachydermoperiostosis
Pachygyria
Pachygyria, frontotemporal
Pachygyria-intellectual disability-epilepsy syndrome
Pachyonychia congenita
Pacman dysplasia
PACS1-related syndrome
Paget disease of bone, familial
Paget disease of the breast
PAGOD syndrome
Pagon Stephan syndrome
Paine syndrome
Painful legs and moving toes syndrome
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Palant cleft palate syndrome
Palatopharyngeal incompetence
Palindromic rheumatism
Pallidopyramidal syndrome
Pallister W syndrome
Pallister-Hall syndrome
Pallister-Killian mosaic syndrome
Palmer Pagon syndrome
Palmoplantar keratoderma
Palmoplantar keratoderma of Sybert
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma-sclerodactyly syndrome
Pancreatic adenoma
Pancreatic cancer, childhood
Pancreatic lipomatosis duodenal stenosis
Pancreatic neuroendocrine tumor
Pancreatitis, pediatric
Pancreatoblastoma
PANDAS
Panhypopituitarism X-linked
Panostotic fibrous dysplasia
Pantothenate kinase-associated neurodegeneration
Panuveitis
Papillary cystadenocarcinoma
Papillary eccrine adenoma
Papillary glioneuronal tumors
Papillary renal cell carcinoma
Papillary thyroid carcinoma
Papilledema
Papillon Lefevre syndrome
Papular epidermal nevi with skyline basal cell layers syndrome
Papular mucinosis
Papular urticaria
Paracoccidioidomycosis
Paraganglioma and gastric stromal sarcoma
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragonimiasis
Parainfluenza virus type 3
Paralysis agitans, juvenile, of Hunt
Paramyotonia congenita
Paranasal sinus cancer, adult
Paranasal sinus cancer, childhood
Paraneoplastic cerebellar degeneration
Paraneoplastic Neurologic Disorders
Paraomphalocele
Paraplegia
Parapsoriasis
Paraquat lung
Parastremmatic dwarfism
Parathyroid cancer, childhood
Parathyroid carcinoma
PARC syndrome
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Parkinson disease type 3
Parkinson disease type 9
Paroxysmal cold hemoglobinuria
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal hemicrania
Paroxysmal kinesigenic choreoathetosis
Paroxysmal nocturnal hemoglobinuria
Paroxysmal ventricular fibrillation
Paroxysomal nonkinesigenic dyskinesia
Pars planitis
Parsonage Turner syndrome
Partial androgen insensitivity syndrome
Partial atrioventricular canal
Partial deletion of Y
Partial duplication of the short arm of chromosome X
Partington syndrome
Parvovirus antenatal infection
PASLI disease
Passos-Bueno syndrome
Pasteurella multocida infection
Patel Bixler syndrome
Patent ductus arteriosus
Patent ductus venosus
Paternal uniparental disomy of chromosome 14
Patterned dystrophy of retinal pigment epithelium
Patterson pseudoleprechaunism syndrome
Patterson-Stevenson-Fontaine syndrome
Pauciarticular chronic arthritis
Pauciarticular onset juvenile idiopathic arthritis
PCDH19-related female-limited epilepsy
PDGFRB-associated chronic eosinophilic leukemia
Pearson syndrome
Pectus carinatum
Pediatric acute-onset neuropsychiatric syndrome
Pediatric Crohn’s disease
Pediatric hypertension
Pediatric multiple sclerosis
Pediatric T-cell leukemia
Pediatric ulcerative colitis
Peeling skin syndrome
PEHO syndrome
Pelger-Huet anomaly
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher-like disease
Pellagra
Pellagra like syndrome
Pellucid marginal degeneration
Pelvic dysplasia arthrogryposis of lower limbs
Pelvic lipomatosis
Pemphigoid gestationis
Pemphigus
Pemphigus and fogo selvagem
Pemphigus foliaceus
Pemphigus vulgaris
Pendred syndrome
Penile cancer, adult
Penile cancer, childhood
Penis agenesis
Penoscrotal transposition
Pentalogy of Cantrell
Pentosuria
Penttinen-Aula syndrome
PEPCK 1 deficiency
PEPCK 2 deficiency
Peptidic growth factors deficiency
Perilymphatic fistula
Perimyositis
Perineurioma
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodontal Ehlers-Danlos syndrome
Peripartum cardiomyopathy
Peripheral resistance to thyroid hormones
Peripheral T-cell lymphoma
Periventricular heterotopia
Periventricular leukomalacia
Perlman syndrome
Permanent neonatal diabetes mellitus
Perniosis
Peroxisomal beta-oxidation disorder
Peroxisomal biogenesis disorders
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Perrault syndrome
Perry syndrome
Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
Persistent genital arousal disorder
Persistent Mullerian duct syndrome
Persistent truncus arteriosus
Peters anomaly
Peters plus syndrome
Petit-Fryns syndrome
Peutz-Jeghers syndrome
Pfeiffer Kapferer syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer Rockelein syndrome
Pfeiffer syndrome
Pfeiffer Tietze Welte syndrome
PGM1-CDG
PGM3-CDG
PHACE syndrome
Phacomatosis pigmentokeratotica
Phacomatosis pigmentovascularis
Phaeohyphomycosis
PHAVER syndrome
Phenobarbital antenatal exposure
Phenylketonuria
Pheochromocytoma
Pheochromocytoma, childhood
Pheochromocytoma-islet cell tumor syndrome
Philadelphia-negative chronic myeloid leukemia
PHIP-Related disorder
Phocomelia
Phocomelia ectrodactyly deafness sinus arrhythmia
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphomannoisomerase deficiency
Phosphoribosylpyrophosphate synthetase deficiency
Phosphoserine aminotransferase deficiency
Photosensitive epilepsy
Phyllodes tumor of the breast
Phyllodes tumor of the prostate
Pick’s disease
Piebaldism
Piepkorn Karp Hickok syndrome
Pierre Robin sequence
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin syndrome skeletal dysplasia polydactyly
Pierson syndrome
Pigment-dispersion syndrome
Pigmented purpuric dermatosis
Pigmented villonodular synovitis
PIK3CA-related overgrowth spectrum
Pili annulati
Pili torti
Pili torti developmental delay neurological abnormalities
Pili torti onychodysplasia
Pillay syndrome
Pilo dento ungular dysplasia microcephaly
Pilocytic astrocytoma
Pilodental dysplasia with refractive errors
Pilomatrixoma
Pilotto syndrome
Pineal germ cell tumor
Pineal parenchymal tumors of intermediate differentiation
Pineoblastoma
Pineoblastoma, childhood
Pineocytoma
Pinheiro Freire-Maia Miranda syndrome
Pinta
Piriformis syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pituitary cancer
Pituitary dwarfism with large sella turcica
Pituitary hormone deficiency, combined 1
Pituitary hormone deficiency, combined 3
Pituitary hormone deficiency, combined 4
Pituitary stalk interruption syndrome
Pityriasis lichenoides
Pityriasis lichenoides chronica
Pityriasis lichenoides et varioliformis acuta
Pityriasis rotunda
Pityriasis rubra pilaris
Piussan Lenaerts Mathieu syndrome
Placenta disorder
Plagiocephaly
Plasma cell leukemia
Plasmablastic lymphoma
Plasmacytoma
Plasmalogens synthesis deficiency isolated
Plasminogen activator inhibitor type 1 deficiency
Platelet storage pool deficiency
Platyspondylic lethal skeletal dysplasia Torrance type
Pleoconial myopathy with salt craving
Pleomorphic xanthoastrocytoma
Pleuroparenchymal fibroelastosis
Pleuropulmonary blastoma
Plexosarcoma
Plummer Vinson syndrome
PMM2-CDG (CDG-Ia)
Pneumocystic carinii pneumonia
Pneumocystosis
Pneumonia, eosinophilic
Podder-Tolmie syndrome
POEMS syndrome
Poikiloderma with neutropenia
Pointer syndrome
Poland syndrome
Poliomyelitis
Polyarteritis nodosa
Polyarticular onset juvenile idiopathic arthritis
Polycystic bone disease
Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polycythemia vera
Polydactyly
Polydactyly cleft lip palate psychomotor retardation
Polydactyly myopia syndrome
Polydactyly postaxial dental and vertebral
Polydactyly syndrome middle ray duplication
Polyembryoma
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
Polymicrogyria turricephaly hypogenitalism
Polymorphic reticulosis
Polymorphous low-grade adenocarcinoma
Polymyositis
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Polyomavirus allograft nephropathy
Polyosteolysis/hyperostosis syndrome
Polyostotic osteolytic dysplasia, hereditary expansile
Polysyndactyly cardiac malformation
Polysyndactyly trigonocephaly agenesis of corpus callosum
Poncet-Spiegler’s cylindroma
Pontine tegmental cap dysplasia
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Pontoneocerebellar Hypoplasia
Popliteal pterygium syndrome
Popliteal pterygium syndrome, Bartsocas-Papas type
Porencephaly
Porencephaly cerebellar hypoplasia internal malformations
Porokeratosis of Mibelli
Porokeratosis, disseminated superficial actinic 1
Porokeratosis, disseminated superficial actinic 2
Porphyria
Porphyria cutanea tarda
Portal hypertension due to infrahepatic block
Positive rheumatoid factor polyarthritis
Posner-Schlossman syndrome
Post Polio syndrome
Post-infectious myocarditis
Post-Streptococcal Neurologic Disorders
Post-transplant lymphoproliferative disease
Post-traumatic epilepsy
Posterior column ataxia
Posterior column ataxia with retinitis pigmentosa
Posterior urethral valves
Posterior uveitis
Posterior valve urethra
Postnatal progressive microcephaly, seizures, and brain atrophy
Postorgasmic illness syndrome
Potassium aggravated myotonia
Potato nose
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Potter sequence
PPM-X syndrome
Prader-Willi habitus, osteopenia, and camptodactyly
Prader-Willi syndrome
Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial polydactyly of fingers
Preaxial polydactyly type 1
Preaxial polydactyly type 2
Preaxial polydactyly type 3
Preaxial polydactyly type 4
Precocious epileptic encephalopathy
Precocious myoclonic encephalopathy
Precocious puberty
Precocious puberty, gonadotropin-dependent
Prekallikrein deficiency, congenital
Premature aging Okamoto type
Presenile dementia, Kraepelin type
Pretibial epidermolysis bullosa
Priapism
Primary agammaglobulinemia
Primary amebic meningoencephalitis
Primary angiitis of the central nervous system
Primary basilar impression
Primary biliary cholangitis
Primary bone cancer
Primary carnitine deficiency
Primary central nervous system lymphoma
Primary ciliary dyskinesia
Primary cutaneous amyloidosis
Primary effusion lymphoma
Primary familial and congenital polycythemia
Primary Familial Brain Calcification
Primary Fanconi syndrome
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hyperparathyroidism
Primary hypomagnesemia with secondary hypocalcemia
Primary intestinal lymphangiectasia
Primary lateral sclerosis
Primary liver cancer
Primary malignant melanoma of the cervix
Primary malignant melanoma of the conjunctiva
Primary melanoma of the central nervous system
Primary open angle glaucoma juvenile onset 1
Primary orthostatic hypotension
Primary orthostatic tremor
Primary pigmented nodular adrenocortical disease
Primary progressive aphasia
Primary release disorder of platelets
Primary sclerosing cholangitis
Primary spontaneous pneumothorax
Primary tubular proximal acidosis
Primrose syndrome
Prinzmetal’s variant angina
Progeria
Progeria variant syndrome Ruvalcaba type
Progeroid short stature with pigmented nevi
Progeroid syndrome Petty type
Progeroid syndrome, Penttinen type
Prognathism mandibular
Progressive bifocal chorioretinal atrophy
Progressive black carbon hyperpigmentation of infancy
Progressive bulbar palsy
Progressive deafness with stapes fixation
Progressive encephalomyelitis with rigidity and myoclonus
Progressive external ophthalmoplegia, autosomal recessive 1
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Progressive familial heart block type 2
Progressive familial intrahepatic cholestasis 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive hemifacial atrophy
Progressive kinking of the hair, acquired
Progressive multifocal leukoencephalopathy
Progressive myoclonic epilepsy
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive pseudorheumatoid dysplasia
Progressive supranuclear palsy
Progressive supranuclear palsy atypical
Progressive transformation of germinal centers
Prolactinoma
Prolidase deficiency
Proliferating trichilemmal cyst
Proliferative verrucous leukoplakia
Proopiomelanocortin deficiency
Properdin deficiency
Properdin deficiency, X-linked
Propionic acidemia
Propriospinal myoclonus
Prosencephaly cerebellar dysgenesis
PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
Prostatic malacoplakia associated with prostatic abscess
Prostatic stromal proliferation of uncertain malignant potential
Prosthetic joint infection
Protein R deficiency
Protein S deficiency
Proteus like syndrome mental retardation eye defect
Proteus syndrome
Proteus-like syndrome
Prothrombin 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
Pseudo Pelger-Huet anomaly
Pseudo-Turner syndrome
Pseudo-Von Willebrand disease
Pseudoachondroplasia
Pseudoachondroplastic dysplasia 2
Pseudoainhum
Pseudoaminopterin syndrome
Pseudoarylsulfatase A deficiency
Pseudocholinesterase deficiency
Pseudodiastrophic dysplasia
Pseudohermaphrodism anorectal anomalies
Pseudohyperkalemia Cardiff
Pseudohypoaldosteronism type 2
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudoinflammatory fundus dystrophy
Pseudomarfanism
Pseudomonas stutzeri infections
Pseudomongolism
Pseudomyotonia
Pseudomyxoma peritonei
Pseudoneonatal adrenoleukodystrophy
Pseudopapilledema blepharophimosis hand anomalies
Pseudopelade of Brocq
Pseudopolycythaemia
Pseudoprogeria syndrome
Pseudopseudohypoparathyroidism
Pseudotrisomy 13 syndrome
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Psittacosis
Psoriatic juvenile idiopathic arthritis
Psychosocial short stature
PTEN hamartoma tumor syndrome
Pterigium Colli
Pterygium colli mental retardation digital anomalies
Pterygium of the conjunctiva and cornea
Ptosis strabismus diastasis
Ptosis strabismus ectopic pupils
Pudendal Neuralgia
Pulmonary alveolar microlithiasis
Pulmonary arterial hypertension
Pulmonary arterio-veinous fistula
Pulmonary arteriovenous malformation
Pulmonary artery agenesis
Pulmonary artery coming from the aorta
Pulmonary artery familial dilatation
Pulmonary atresia with intact ventricular septum
Pulmonary atresia with ventricular septal defect
Pulmonary branches stenosis
Pulmonary edema of mountaineers
Pulmonary hyalinizing granuloma
Pulmonary hypoplasia familial primary
Pulmonary sequestration
Pulmonary supravalvular stenosis
Pulmonary surfactant protein B, deficiency of
Pulmonary valve stenosis
Pulmonary valves agenesis
Pulmonary vein stenosis
Pulmonary venoocclusive disease
Pulmonary venous return anomaly
Pulmonic stenosis
Punctate acrokeratoderma freckle like pigmentation
Punctate inner choroidopathy
Punctate palmoplantar keratoderma type 2
Punctate palmoplantar keratoderma type I
Punctate porokeratosis
PURA syndrome
Pure autonomic failure
Pure red cell aplasia
Purine nucleoside phosphorylase deficiency
Pustular psoriasis
Pustulosis palmaris et plantaris
Pycnodysostosis
Pyknoachondrogenesis
Pyle disease
Pyoderma gangrenosum
Pyogenic arthritis, pyoderma gangrenosum and acne
Pyomyositis
Pyridoxal 5′-phosphate-dependent epilepsy
Pyridoxine deficiency
Pyridoxine-dependent epilepsy
Pyropoikilocytosis hereditary
Pyruvate carboxylase deficiency
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
Pyruvate kinase deficiency, liver type
Pyruvate kinase deficiency, muscle type
Pythiosis
Q fever
Qazi Markouizos syndrome
Quebec platelet disorder
Quinquaud’s decalvans folliculitis
Rabies
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia, triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radiation induced angiosarcoma of the breast
Radiation induced brachial plexopathy
Radiation induced cancer
Radiation induced meningioma
Radio renal syndrome
Radio-digito-facial dysplasia
Radio-ulnar synostosis type 1
Radio-ulnar synostosis type 2
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radius absent anogenital anomalies
Rahman syndrome
Raine syndrome
Ramer Ladda syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapid-onset dystonia-parkinsonism
Rapp-Hodgkin syndrome
Rare adenocarcinoma of the breast
Rare intellectual disability without developmental anomaly
Rare lichen planus
Rasmussen encephalitis
Rasmussen Johnsen Thomsen syndrome
Rat bite fever
Reactive angioendotheliomatosis
Reactive arthritis
Reardon Wilson Cavanagh syndrome
Recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa-generalized other
Recombinant chromosome 8 syndrome
Rectal cancer, childhood
Recurrent hydatidiform mole
Recurrent peripheral facial palsy
Recurrent respiratory papillomatosis
Red cell phospholipid defect with hemolysis
Red skin pigment anomaly of New Guinea
Reducing body myopathy
Reductional transverse limb defects
Reese retinal dysplasia
Refractory cytopenia with unilineage dysplasia
Refsum disease
Refsum disease with increased pipecolic acidemia
Refsum disease, infantile form
Reginato Shiapachasse syndrome
Relapsing polychondritis
Renal adysplasia dominant type
Renal agenesis
Renal agenesis meningomyelocele mullerian defect
Renal caliceal diverticuli deafness
Renal carcinoma, familial
Renal cell carcinoma
Renal cell carcinoma 4
Renal coloboma syndrome
Renal dysplasia diffuse autosomal recessive
Renal dysplasia diffuse cystic
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal genital middle ear anomalies
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal medullary carcinoma
Renal nutcracker syndrome
Renal oncocytoma
Renal rickets
Renal tubular acidosis
Renal tubular acidosis with deafness
Renal tubular acidosis, distal
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Renal tubular acidosis, distal, type 3
Renal tubular acidosis, distal, type 4
Renal tubular dysgenesis
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renoanogenital syndrome
Renoprival hypertension
Renpenning syndrome 1
Resistance to LH (luteinizing hormone)
Respiratory distress syndrome, infant
Restless legs syndrome, susceptibility to, 1
Restless legs syndrome, susceptibility to, 2
Restless legs syndrome, susceptibility to, 3
Restless legs syndrome, susceptibility to, 4
Restless legs syndrome, susceptibility to, 5
Restless legs syndrome, susceptibility to, 6
Reticular dysgenesis
Reticuloendotheliosis
Reticulohistiocytoma
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal cone dystrophy 1
Retinal cone dystrophy 2
Retinal cone dystrophy 3A
Retinal cone dystrophy 3B
Retinal cone dystrophy 4
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Retinal dysplasia X-linked
Retinal telangiectasia hypogammaglobulinemia
Retinal vasculopathy with cerebral leukodystrophy
Retinis pigmentosa deafness hypogenitalism
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis Pigmentosa 11
Retinitis pigmentosa 12
Retinitis Pigmentosa 13
Retinitis Pigmentosa 14
Retinitis Pigmentosa 15
Retinitis Pigmentosa 17
Retinitis Pigmentosa 18
Retinitis Pigmentosa 19
Retinitis pigmentosa 2, X-linked
Retinitis Pigmentosa 20
Retinitis Pigmentosa 22
Retinitis Pigmentosa 23
Retinitis Pigmentosa 24
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis pigmentosa 29
Retinitis pigmentosa 3
Retinitis Pigmentosa 30
Retinitis Pigmentosa 31
Retinitis Pigmentosa 32
Retinitis Pigmentosa 33
Retinitis Pigmentosa 34
Retinitis Pigmentosa 35
Retinitis Pigmentosa 36
Retinitis Pigmentosa 4
Retinitis Pigmentosa 41
Retinitis Pigmentosa 6
Retinitis Pigmentosa 7
Retinitis Pigmentosa 9
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinoblastoma
Retinochoroidal coloboma
Retinohepatoendocrinologic syndrome
Retinopathy anemia CNS anomalies
Retinopathy aplastic anemia neurological abnormalities
Retinopathy of prematurity
Retinopathy pigmentary mental retardation
Retinopathy, arteriosclerotic
Retinoschisis autosomal dominant
Retinoschisis of Fovea
Retroperitoneal fibrosis
Retroperitoneal liposarcoma
Rett syndrome
Reversible cerebral vasoconstriction syndrome
Revesz syndrome
Reye syndrome
Reynolds Neri Hermann syndrome
Reynolds syndrome
RFT1-CDG (CDG-In)
Rh deficiency syndrome
Rhabditida Infections
Rhabdoid tumor
Rhabdomyomatous mesenchymal hamartoma
Rhabdomyosarcoma alveolar
Rhabdomyosarcoma embryonal
Rheumatic Fever
Rheumatoid nodulosis
Rheumatoid vasculitis
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Rhizomelic pseudopolyarthritis
Rhizomelic syndrome
RHYNS syndrome
Ribbing disease
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Richieri Costa Orquizas syndrome
Richieri Costa Pereira syndrome
Richieri-Costa Colletto Otto syndrome
Richieri-Costa Guion-Almeida Cohen syndrome
Richter syndrome
Rickets
Rienhoff syndrome
Right atrium familial dilatation
Right ventricle hypoplasia
Rigid spine syndrome
Ring chromosome 1
Ring chromosome 10
Ring chromosome 11
Ring chromosome 12
Ring chromosome 13
Ring chromosome 14
Ring chromosome 15
Ring chromosome 16
Ring chromosome 17
Ring chromosome 18
Ring chromosome 19
Ring chromosome 2
Ring chromosome 20
Ring chromosome 21
Ring chromosome 22
Ring chromosome 3
Ring chromosome 4
Ring chromosome 5
Ring chromosome 6
Ring chromosome 7
Ring chromosome 8
Ring chromosome 9
Ring dermoid of cornea
Ringed hair disease
Rippling muscle disease
Rippling muscle disease, 1
RNAse T2-deficient leukoencephalopathy
Roberts syndrome
Robin sequence and oligodactyly
Robinow syndrome
Roch-Leri mesosomatous lipomatosis
Rocky mountain spotted fever
Rodini Richieri Costa syndrome
Rodrigues blindness
ROHHAD
Roifman syndrome
Rokitansky sequence
Rokitansky-Aschoff sinuses of the gallbladder
Rombo syndrome
Rommen Mueller Sybert syndrome
Rosai-Dorfman disease
Rothmund-Thomson syndrome
Rotor syndrome
Roussy Levy syndrome
Rowley-Rosenberg syndrome
Roy Maroteaux Kremp syndrome
Rozin Hertz Goodman syndrome
RRM2B-related mitochondrial DNA depletion syndrome
Rubella
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome
Rud Syndrome
Rufous oculocutaneous albinism
Rumination disorder
Russell-Silver syndrome
Rutherfurd syndrome
Ruvalcaba Churesigaew Myhre syndrome
Ruvalcaba syndrome
Ruzicka Goerz Anton syndrome
Saal Bulas syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Sackey Sakati Aur syndrome
Sacral defect with anterior meningocele
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Sacral plexopathy
Sacrococcygeal Teratoma
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakati syndrome
Sakoda complex
Salcedo syndrome
Salivary gland cancer, adult
Salivary gland cancer, childhood
Salivary gland type cancer of the breast
Salla disease
Sammartino Decreccio syndrome
Samson Gardner syndrome
Samson Viljoen syndrome
Sanderson Fraser syndrome
Sandhaus Ben-Ami syndrome
Sandhoff disease
Sandifer syndrome
Santos Mateus Leal syndrome
SAPHO syndrome
Sarcoma botryoides
Sarcosinemia
SARS
SATB2-associated syndrome
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller syndrome
Say Carpenter syndrome
Say Meyer syndrome
Say syndrome
Say-Field-Coldwell syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scapuloperoneal syndrome, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheie syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schistosomiasis
Schizencephaly
Schlegelberger Grote syndrome
Schmitt Gillenwater Kelly syndrome
Schneckenbecken dysplasia
Schnitzler syndrome
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schwannoma
Schwannomatosis
Schwartz Cohen-Addad Lambert syndrome
Schwartz Jampel syndrome
Scleredema
Scleritis
Sclerocornea, Syndactyly, ambiguous genitalia
Scleromyxedema
Sclerosing mesenteritis
Sclerosing mucoepidermoid carcinoma with eosinophilia
Sclerosteosis
SCN1A-related seizure disorders
SCN2A related disorders
SCN8A encephalopathy
Scoliosis with unilateral unsegmented bar
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Scurvy
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia, familial presenile
Secernentea Infections
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Secondary adrenal insufficiency
Secretory breast carcinoma
Segmentation syndrome 1
Seizures benign familial neonatal recessive form
Seizures mental retardation hair dysplasia
Selective IgM deficiency
Selenium poisoning
Selig Benacerraf Greene syndrome
Semantic dementia
Semmekrot Haraldsson Weemaes syndrome
Sener syndrome
Sengers syndrome
Senior Loken Syndrome
Sennetsu Fever
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory neuropathy type 1
Seow Najjar syndrome
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
Sequeiros Sack syndrome
Seres-Santamaria Arimany Muniz syndrome
SERKAL syndrome
Serpiginous choroiditis
Sertoli cell-only syndrome
Sertoli-leydig cell tumors
SeSAME syndrome
SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency, atypical
Severe congenital nemaline myopathy
Severe congenital neutropenia autosomal dominant
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe infantile axonal neuropathy
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Sezary syndrome
Shapiro syndrome
Shashi-Pena syndrome
Shaver’s disease
Sheehan syndrome
Sheldon-Hall syndrome
Shigellosis
Shith Filkins syndrome
Short bowel syndrome
Short broad great toe macrocranium
Short limb dwarf edema iris coloboma
Short limb dwarf lethal Colavita Kozlowski type
Short limbs abnormal face congenital heart disease
Short limbs subluxed knees cleft palate
Short rib-polydactyly syndrome  type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 4
Short ribs craniosynostosis polysyndactyly
Short stature contractures hypotonia
Short stature cranial hyperostosis hepatomegaly
Short stature deafness neutrophil dysfunction
Short stature dysmorphic face pelvic scapula dysplasia
Short stature microcephaly seizures deafness
Short stature monodactylous ectrodactyly cleft palate
Short stature prognathism short femoral necks
Short stature Robin sequence cleft mandible hand anomalies clubfoot
Short stature syndrome, Brussels type
Short stature talipes natal teeth
Short stature valvular heart disease
Short stature with optic atrophy and Pelger-Huët anomaly syndrome
Short stature wormian bones dextrocardia
Short stature, cranial hyperostosis, hepatomegaly and diabetes
Short stature-craniofacial anomalies-genital hypoplasia syndrome
SHORT syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
Shoulder and thorax deformity congenital heart disease
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Shwartzman phenomenon
Sialadenitis
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sickle beta thalassemia
Sickle cell – hemoglobin D disease
Sickle cell anemia
Sickle cell disease associated with an other hemoglobin anomaly
Sickle delta beta thalassemia
Sideroblastic anemia acquired
Sideroblastic anemia and mitochondrial myopathy
Sideroblastic anemia pyridoxine-refractory autosomal recessive
Sideroblastic anemia pyridoxine-responsive autosomal recessive
Siderosis
Siegler Brewer Carey syndrome
Silengo Lerone Pelizza syndrome
Silicosiderosis
Silicosis
Sillence syndrome
Silvery hair syndrome
Simian B virus infection
Simosa cranio facial syndrome
Simpson-Golabi-Behmel syndrome
Simultanagnosia
Singh Chhaparwal Dhanda syndrome
Single upper central incisor
Single ventricular heart
Singleton-Merten syndrome
Sinonasal undifferentiated carcinoma
Sinus cancer
Sinus node disease and myopia
Sirenomelia
Sitosterolemia
Situs inversus
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sixth nerve palsy
Sjogren’s syndrome, juvenile, secondary to autoimmune disease
Sjogren-Larsson syndrome
Sjogren-Larsson-like syndrome
Skeletal dysplasia orofacial anomalies
Skeletal dysplasia, San Diego type
Skeletal-extraskeletal angiomatosis
Skeleto cardiac syndrome with thrombocytopenia
Skin cancer, non melanoma, childhood
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Slavotinek Pike Mills Hurst syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
SLC4A1-associated distal renal tubular acidosis
Slow-channel congenital myasthenic syndrome
Slti Salem syndrome
Small cell carcinoma of the bladder
Small cell lung cancer,  childhood
Small cell lung cancer, adult
Small Intestinal Adenocarcinoma
Small intestine cancer
Small intestine cancer, childhood
Small patella syndrome
Smallpox
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snowflake vitreoretinal degeneration
Snyder-Robinson syndrome
Soft tissue sarcoma
Soft tissue sarcoma childhood
Sohval Soffer syndrome
Somatostatinoma
Sonoda syndrome
Sosby syndrome
Sotos syndrome
Spasmodic dysphonia
Spastic angina with healthy coronary artery
Spastic ataxia Charlevoix-Saguenay type
Spastic diplegia cerebral palsy
Spastic diplegia infantile type
Spastic paraparesis
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 39
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 5B
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia neuropathy poikiloderma
Spastic paraplegia with precocious puberty
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spasticity multiple exostoses
Specific antibody deficiency
Spermatogenesis arrest
Spheroid body myopathy
Sphingolipidosis
Spina bifida
Spina bifida hypospadias
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal bulbar motor neuropathy
Spinal dysostosis type Anhalt
Spinal intradural arachnoid cysts
Spinal meningioma
Spinal muscular atrophy
Spinal muscular atrophy 1
Spinal muscular atrophy Ryukyuan type
Spinal muscular atrophy type 1 with congenital bone fractures
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinal muscular atrophy type 4
Spinal muscular atrophy with respiratory distress 1
Spinal shock
Spine rigid cardiomyopathy
Spinocerebellar ataxia
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 3
Spinocerebellar ataxia 30
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 35
Spinocerebellar ataxia 36
Spinocerebellar ataxia 37
Spinocerebellar ataxia 38
Spinocerebellar ataxia 4
Spinocerebellar ataxia 40
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia 9
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 6
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 2
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Spinocerebellar degenerescence book type
Spirochetes disease
Spirurida Infections
Spitz nevus
Splenic infarcts
Splenic neoplasm
Splenogonadal fusion limb defects micrognatia
Splenomegaly
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot malformation autosomal recessive
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split hand/foot malformation X-linked
Split spinal cord malformation
Spondylarthropathy
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis
Spondylocostal dysostosis 1
Spondylocostal dysostosis 2
Spondylocostal dysostosis 3
Spondylocostal dysostosis 4
Spondylocostal dysostosis 5
Spondylocostal dysostosis 6
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia, Aggrecan type
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylohypoplasia, arthrogryposis and popliteal pterygium
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Spontaneous coronary artery dissection
Sporotrichosis
Spotted fever
Spranger Schinzel Myers syndrome
Sprengel deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
St Anthony’s fire
Stachybotrys chartarum
Stalker Chitayat syndrome
Stampe sorensen syndrome
Staphylococcal food poisoning
Staphylococcal toxic shock syndrome
STAR syndrome
Stargardt disease
Status epilepticus
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Stenotrophomonas maltophilia infection
Sterility due to immotile flagella
Sternal cleft
Sternal cyst vascular anomalies
Sternal malformation vascular dysplasia associatio
Steroid dehydrogenase deficiency dental anomalies
Stevens-Johnson syndrome
Stewart Treves syndrome
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff person syndrome
Stiff skin syndrome
STING-associated vasculopathy with onset in infancy
Stocco dos Santos syndrome
Stoelinga de Koomen Davis syndrome
Stoll Alembik Finck syndrome
Stomach cancer
Stomach cancer, childhood
Stomatocytosis I
Stomatocytosis II
Storm syndrome
Streptococcal Group A invasive disease
Streptococcal Group B invasive disease
Striatonigral degeneration infantile
Strongyloidiasis
STT3A-CDG and STT3B-CDG
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subacute cerebellar degeneration
Subacute sclerosing panencephalitis
Subaortic stenosis short stature syndrome
Subcortical band heterotopia
Subcutaneous panniculitis-like T-cell lymphoma
Subependymal giant cell astrocytoma
Subependymal nodular heterotopia
Subependymoma
Subpulmonary stenosis
Subvalvular aortic stenosis
Succinic acidemia lactic acidosis congenital
Succinic semialdehyde dehydrogenase deficiency
Sudden Arrhythmia Death Syndrome
Sudden infant death syndrome
Sudden infant death with dysgenesis of the testes syndrome
Sudden sensorineural hearing loss
Sugarman brachydactyly
Sulfite oxidase deficiency
Summitt syndrome
SUNCT headache
Superficial siderosis of the central nervous system
Superficial spreading melanoma
Superior limbic keratoconjunctivitis
Superior mesenteric artery syndrome
Superior semicircular canal dehiscence syndrome
Supraglottic laryngeal cancer
Supranuclear ocular palsy
Supratentorial primitive neuroectodermal tumor
Supratentorial primitive neuroectodermal tumors, childhood
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Susac syndrome
Sutton disease 2
Swyer syndrome
Swyer-James syndrome
Sydenham’s chorea
Symmastia
Symmetrical thalamic calcifications
Symphalangism brachydactyly craniosynostosis
Symphalangism distal
Symphalangism short stature accessory testis
Symphalangism with multiple anomalies of hands and feet
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
Syncamptodactyly scoliosis
Syndactyly Cenani Lenz type
Syndactyly ectodermal dysplasia cleft lip palate hand foot
Syndactyly type 1
Syndactyly type 2
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndromic microphthalmia, type 3
Syndromic microphthalmia-12
SYNGAP1-related non-syndromic intellectual disability
Syngnathia cleft palate
Syngnathia multiple anomalies
Synostoses, tarsal, carpal, and digital
Synostosis of talus and calcaneus short stature
Synovial cancer
Synovial Chondromatosis
Synovial chondromatosis, familial with dwarfism
Synovial sarcoma
Synovitis
Syphilitic aseptic meningitis
Syphilitic myelopathy
Syringobulbia
Syringocystadenoma papilliferum
Syringomas natal teeth oligodontia
Syringomelia hyperkeratosis
Syringomyelia
Systemic candidiasis
Systemic capillary leak syndrome
Systemic mastocytosis
Systemic necrotizing angitis
Systemic onset juvenile idiopathic arthritis
Systemic scleroderma
T cell immunodeficiency primary
T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell lymphoma 1A
T-cell/histiocyte rich large B cell lymphoma
Tabatznik syndrome
Takayasu arteritis
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Talonavicular coalition
Tang Hsi Ryu syndrome
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TAR syndrome
Tarlov cysts
TARP syndrome
Tarsal carpal coalition syndrome
Tarsal tunnel syndrome
TAU syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Tay-Sachs disease
Teebi Kaurah syndrome
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telangiectasia macularis eruptive perstans
Telfer Sugar Jaeger syndrome
TEMPI syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temporomandibular ankylosis
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons, extensor, of fingers, anomalous insertion of
Teratoma with malignant transformation
Testicular cancer
Testicular cancer, childhood
Testicular germ cell tumor
Testicular seminoma
Testicular yolk sac tumor
Testotoxicosis
Tetanus
Tethered cord syndrome
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetrahydrobiopterin deficiency
Tetralogy of Fallot
Tetralogy of fallot and glaucoma
Tetramelic monodactyly
Tetraploidy
Tetrasomy 21
Tetrasomy 9p
Tetrasomy X
Thai symphalangism syndrome
Thakker-Donnai syndrome
Thalamic degeneration symmetrical infantile
Thalamic degeneration, symmetric infantile
Thalassemia
Thanatophoric dysplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Theodor Hertz Goodman syndrome
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Thiamine responsive megaloblastic anemia syndrome
Thickened earlobes with conductive deafness from incus-stapes abnormalities
Thiopurine S methyltranferase deficiency
Thomas syndrome
Thompson Baraitser syndrome
Thoracic celosomia
Thoracic dysplasia hydrocephalus syndrome
Thoraco abdominal enteric duplication
Thoraco limb dysplasia Rivera type
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thoracopelvic dysostosis
Thrombasthenia
Thrombocytopathy asplenia miosis
Thrombocytopenia 2
Thrombocytopenia cerebellar hypoplasia short stature
Thrombocytopenia Robin sequence
Thrombocytopenia with elevated serum IgA and renal disease
Thrombomodulin anomalies, familial
Thrombotic thrombocytopenic purpura, acquired
Thumb absent short stature immune deficiency
Thumb deformity
Thumb deformity, alopecia, pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thunderclap headache
Thymic epithelial tumor
Thymic-Renal-Anal-Lung dysplasia
Thymoma, childhood
Thyrocerebral-retinal syndrome
Thyroid cancer, childhood
Thyroid cancer, follicular
Thyroid cancer, medullary
Thyroid dysgenesis
Thyroid hormone plasma membrane transport defect
Thyrotoxic periodic paralysis
Thyrotropin deficiency, isolated
Tibia absent polydactyly arachnoid cyst
Tibiae bowed radial anomalies osteopenia fracture
Tibial aplasia ectrodactyly hydrocephalus
Tibial hemimelia cleft lip palate
Tick paralysis
Tick-borne encephalitis
Tièche-Jadassohn nevus
Tietz syndrome
Tietze syndrome
Tight skin contracture syndrome, lethal
Tiglic acidemia
Timothy syndrome
TMEM165-CDG (CDG-IIk)
TMEM70 defect
Togaviridae disease
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tongue cancer
Tonoki syndrome
TORCH syndrome
Torg Winchester syndrome
Toriello-Carey syndrome
Torticollis keloids cryptorchidism renal dysplasia
Torticollis, familial
Total Hypotrichosis, Mari type
Townes-Brocks syndrome
Toxic epidermal necrolysis
Trabecular myopathy
Tracheal agenesis
Tracheobronchomalacia
Tracheobronchomegaly
Tracheobronchopathia osteoplastica
Tracheoesophageal fistula
Tracheoesophageal fistula symphalangism
Tracheophageal fistula hypospadias
Trachoma
Tranebjaerg Svejgaard syndrome
Transaldolase deficiency
Transcobalamin 1 deficiency
Transient bullous dermolysis of the newborn
Transient erythroblastopenia of childhood
Transient global amnesia
Transient infantile liver failure
Transient myeloproliferative syndrome
Transient neonatal diabetes mellitus
Transitional cell cancer of the renal pelvis and ureter
Transitional cell carcinoma
Transposition of the great arteries
Transverse limb deficiency hemangioma
Transverse myelitis
Treacher Collins syndrome
Treacher Collins syndrome 3
Trehalase deficiency
Tremor hereditary essential, 1
Tremor hereditary essential, 2
Tremors, nystagmus and duodenal ulcers
Treponema infection
Trichinosis
Tricho odonto onycho dermal syndrome
Tricho odonto onychodysplasia syndactyly dominant type
Tricho onychic dysplasia
Tricho onycho hypohidrotic dysplasia
Tricho retino dento digital syndrome
Tricho-dento-osseous syndrome
Tricho-dento-osseous syndrome 1
Trichodental syndrome
Trichodysplasia xeroderma
Trichofolliculoma
Trichohepatoenteric syndrome
Trichomalacia
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichoodontoonychial dysplasia
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichoscyphodysplasia
Trichostasis spinulosa
Trichothiodystrophy
Trichuriasis
Tricuspid atresia
Trigeminal neuralgia
Trigeminal trophic syndrome
Trigger thumb
Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Trigonocephaly bifid nose acral anomalies
Trigonomacrocephaly tibial defect polydactyly
Trihydroxycholestanoylcoa oxidase isolated deficiency
Trimethylaminuria
Triopia
Triosephosphate isomerase deficiency
Triphalangeal thumb non opposable
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 11 mosaicism
Trisomy 12 mosaicism
Trisomy 13
Trisomy 17 mosaicism
Trisomy 18
Trisomy 2 mosaicism
Trisomy 22
Trisomy 3 mosaicism
Trochlea of the humerus aplasia of
Trochlear dysplasia
Trochleitis
Trophoblastic tumor placental site
Tropical sprue
Troyer syndrome
True thymic hyperplasia
Trueb Burg Bottani syndrome
Trypanosomiasis, Human East-African
Trypanosomiasis, Human West-African
Tryptophanuria with dwarfism
Tsukahara Azuno Kajii syndrome
Tuberculosis
Tuberculous meningitis
Tuberculous uveitis
Tuberous sclerosis
Tuberous sclerosis, type 1
Tuberous sclerosis, type 2
Tubular aggregate myopathy
Tubulointerstitial nephritis and uveitis
Tucker syndrome
Tufted angioma
Tufted hair folliculitis
Tufting enteropathy
Tukel syndrome
Tularemia
Tumefactive multiple sclerosis
Tumor necrosis factor receptor-associated periodic syndrome
Tumor of cranial and spinal nerves
Tungiasis
Tunglang Savage Bellman syndrome
Turcot syndrome
Turner syndrome
TUSC3-CDG
Twenty-nail dystrophy
Twin to twin transfusion syndrome
Tylosis
Tylosis with esophageal cancer
Type 1 plasminogen deficiency
Typhoid fever
Typhus
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Uhl anomaly
Ulcerative proctitis
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulna and fibula, hypoplasia of
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
Umbilical cord ulceration and intestinal atresia
Unclassified acute myeloid leukemia
Uncombable hair syndrome
Undifferentiated pleomorphic sarcoma
Unicentric Castleman disease
Unilateral absence of a pulmonary artery
Uniparental disomy of  6
Uniparental disomy of chromosome 11
Uniparental disomy of chromosome 2
Unna-Thost palmoplantar keratoderma
Unverricht-Lundborg disease
Upington disease
Urachal adenocarcinoma
Urachal cancer
Urachal cyst
Urea cycle disorders
Urethral cancer
Urethral obstruction sequence
Urocanase deficiency
Urogenital adysplasia
Uromodulin kidney disease
Uropathy distal obstructive polydactyly
Usher syndrome
Usher syndrome type 2A
Usher syndrome type 3
Usher syndrome, type 1
Usher syndrome, type 1B
Usher syndrome, type 1C
Usher syndrome, type 1D
Usher syndrome, type 1E
Usher syndrome, type 1F
Usher syndrome, type 2B
Usher syndrome, type 2C
Uterine Carcinosarcoma
Uterine sarcoma
UV sensitive syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Uveal diseases
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Vagina, absence of
Vaginal cancer
Vagneur Triolle Ripert syndrome
Valinemia
Van Allen Myhre syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Bogaert-Hozay syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Van Regemorter Pierquin Vamos syndrome
Variant Creutzfeldt-Jakob disease
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Vascular hyalinosis
Vasquez Hurst Sotos syndrome
Vein of Galen aneurysm
Velofacioskeletal syndrome
Venezuelan equine encephalitis
Ventricular extrasystoles with syncopal episodes – perodactyly – Robin sequence
Ventricular fibrillation, idiopathic
Ventricular septal defects
Ventriculo-arterial discordance, isolated
Ventruto Digirolamo Festa syndrome
Verloes Bourguignon syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vernal keratitis
Vernal keratoconjunctivitis
Verrucous nevus acanthokeratolytic
Vertebral body fusion overgrowth
Vertebral fusion posterior lumbosacral blepharoptosis
Vestibulocochlear dysfunction, progressive
Vibratory urticaria
Vibrio vulnificus infection
Vici syndrome
Viljoen Kallis Voges syndrome
Viljoen Winship syndrome
VIPoma
Viral hemorrhagic fever
Virilizing ovarian tumor
Virus associated hemophagocytic syndrome
Visceral neuropathy familial
Visceral steatosis
Visual pathway and hypothalamic glioma, childhood
Visual snow syndrome
Vitamin A embryopathy
Vitamin B12-responsive methylmalonic acidemia
Vitreoretinal degeneration
VLCAD deficiency
Vocal cord dysfunction familial
Vogt-Koyanagi-Harada disease
Vohwinkel syndrome
Von Hippel-Lindau disease
Vulvar cancer
Vulvar Vestibulitis Syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2A
Waardenburg syndrome type 2B
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walbaum Titran Durieux Crepin syndrome
Waldenstrom macroglobulinemia
Walker Dyson syndrome
Walker-Warburg syndrome
Wallenberg syndrome
Wallerian degeneration
Wandering spleen
Warfarin resistance
Warfarin sensitivity
Warfarin syndrome
Warm antibody hemolytic anemia
Warman Mulliken Hayward syndrome
Warthin tumor
Waterhouse–Friderichsen syndrome
Watermelon stomach
Watson syndrome
WDHA syndrome
Weaver Johnson syndrome
Weaver syndrome
Weaver Williams syndrome
Weber syndrome
Wegmann Jones Smith syndrome
Weill-Marchesani syndrome
Weinstein Kliman Scully syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy, Swedish type
Weleber Hecht Bigley syndrome
Wellesley Carmen French syndrome
Wells syndrome
Wells-Jankovic syndrome
Werner’s syndrome
Wernicke-Korsakoff syndrome
West nile encephalitis
West nile virus
West syndrome
Western equine encephalitis
Westphal disease
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIM syndrome
Whipple disease
Whistling face syndrome, recessive form
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White platelet syndrome
White sponge nevus of cannon
Whooping cough
Wiedemann Oldigs Oppermann syndrome
Wiedemann Opitz syndrome
Wiedemann-Steiner syndrome
Wildervanck syndrome
Wilkes Stevenson syndrome
Willems De vries syndrome
Williams syndrome
Wilms tumor and radial bilateral aplasia
Wilms’ tumor
Wilson disease
Wilson-Mikity syndrome
Wilson-Turner syndrome
Windblown hand
Winkelman Bethge Pfeiffer syndrome
Winter Harding Hyde syndrome
Wisconsin syndrome
Wiskott Aldrich syndrome
Witkop syndrome
Wolf-Hirschhorn syndrome
Wolffian tumor
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worster Drought syndrome
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn Mason’s syndrome
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 6
X-linked complicated corpus callosum agenesis
X-linked complicated spastic paraplegia type 1
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked dominant scapuloperoneal myopathy
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis
X-linked intellectual disability – corpus callosum agenesis – spastic quadriparesis
X-linked intellectual disability – short stature – obesity
X-linked intellectual disability with or without nystagmus
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia
X-linked mental retardation craniofacial abnormal microcephaly club
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked susceptibility to autism-4
X-linked thrombocytopenia
X-linked visceral heterotaxy 1
Xanthinuria type 1
Xanthinuria type 2
Xanthogranulomatous cholecystitis
Xanthogranulomatous sialadenitis
Xanthoma disseminatum
Xeroderma pigmentosum
Xeroderma pigmentosum type 7
Xeroderma pigmentosum, type 1
Xeroderma pigmentosum, type 2
Xeroderma pigmentosum, type 3
Xeroderma pigmentosum, type 5
Xeroderma pigmentosum, type 6
Xeroderma pigmentosum, type 9
Xeroderma pigmentosum, variant type
Xeroderma talipes enamel defects
XFE progeroid syndrome
Xia-Gibbs syndrome
XK aprosencephaly
Xp22.3 microdeletion syndrome
Y chromosome infertility
Y chromosome pericentric inversion
Yaws
Yellow fever
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji Okuno syndrome
Young syndrome
Yunis-Varon syndrome
Yusho Disease
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zerres Rietschel Majewski syndrome
Zika virus infection
Zlotogora syndrome
Zollinger-Ellison syndrome
Zori Stalker Williams syndrome
ZTTK syndrome
Zunich neuroectodermal syndrome
Zuska’s disease
Zygomycosis