Select a Disease:
12q14 microdeletion syndrome
15q11.2 microdeletion syndrome
15q13.3 microdeletion syndrome
15q24 microdeletion syndrome
16q24.3 microdeletion syndrome
17p11.2 microduplication syndrome
17q11 microdeletion syndrome
17q12 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
1p36 deletion syndrome
1q44 microdeletion syndrome
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
2q23.1 microdeletion syndrome
2q24 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3C syndrome
3M syndrome
3MC syndrome
46,XX gonadal dysgenesis
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,xy sex reversal 2
5-oxoprolinase deficiency
5q14.3 microdeletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
6q25 microdeletion syndrome
8p23.1 microdeletion syndrome
8q24.3 microdeletion syndrome
AA amyloidosis
ABri amyloidosis
ADNP syndrome
ADULT syndrome
ADan amyloidosis
AGel amyloidosis
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
Aarskog-Scott syndrome
Abetalipoproteinemia
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence of fingerprints-congenital milia syndrome
Acatalasemia
Aceruloplasminemia
Acheiropodia
Achondroplasia
Achromatopsia 2
Achromatopsia 3
Acquired idiopathic sideroblastic anemia
Acquired partial lipodystrophy
Acral peeling skin syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrodermatitis enteropathica
Acrodysostosis
Acrofacial dysostosis, Rodríguez type
Acrofacial dysostosis, Weyers type
Acrogeria
Acromegaly
Acromelic frontonasal dysplasia
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dysplasia, Maroteaux type
Acromicric dysplasia
Acroosteolysis-keloid-like lesions-premature aging syndrome
Activated PI3K-delta syndrome
Acute fatty liver of pregnancy
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure-multisystemic involvement syndrome
Acute intermittent porphyria
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukaemia with myelodysplasia-related features
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Acute promyelocytic leukemia
Adams-Oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adenosine monophosphate deaminase deficiency
Adenylosuccinate lyase deficiency
Adrenocortical carcinoma
Adrenomyeloneuropathy
Adult hepatocellular carcinoma
Adult polyglucosan body disease
Adult-onset autosomal dominant leukodystrophy
Adult-onset dystonia-parkinsonism
Adult-onset foveomacular vitelliform dystrophy
Agnathia-holoprosencephaly-situs inversus syndrome
Aicardi-Goutières syndrome
Alacrima, achalasia, and mental retardation syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Albers-Schönberg osteopetrosis
Alkaptonuria
Allan-Herndon-Dudley syndrome
Alopecia universalis
Alopecia-intellectual disability syndrome
Alopecia-intellectual disability syndrome 2
Alpers-Huttenlocher syndrome
Alpha delta granule deficiency
Alpha-1-antitrypsin deficiency
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Alpha-thalassemia-X-linked intellectual disability syndrome
Alström syndrome
Alternating hemiplegia of childhood
Alveolar rhabdomyosarcoma
Alveolar soft tissue sarcoma
Alzheimer disease 2
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta, hypomaturation type, iia1
Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2
Amelogenesis imperfecta, type ie
Amish lethal microcephaly
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Amyotrophy, hereditary neuralgic
Anaplastic astrocytoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anauxetic dysplasia
Andersen-Tawil syndrome
Aneurysm, intracranial berry, 2
Aneurysm-osteoarthritis syndrome
Angel-shaped phalango-epiphyseal dysplasia
Angioma serpiginosum, x-linked
Aniridia-cerebellar ataxia-intellectual disability syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Aortic aneurysm, familial thoracic 4
Apert syndrome
Aplasia cutis congenita
Apolipoprotein A-I deficiency
Apparent mineralocorticoid excess
Aquagenic palmoplantar keratoderma
Argininemia
Argininosuccinic aciduria
Arnold-Chiari malformation type I
Arnold-Chiari malformation type II
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis, distal, type 2b1
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Aspartylglucosaminuria
Ataxia with vitamin E deficiency
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-oculomotor apraxia 3
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 4
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Athabaskan brainstem dysgenesis syndrome
Atrial septal defect, ostium primum type
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Atrophoderma vermiculata
Atypical Rett syndrome
Atypical Werner syndrome
Auriculocondylar syndrome
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Autoimmune polyendocrinopathy type 1
Autoimmune pulmonary alveolar proteinosis
Autosomal agammaglobulinemia
Autosomal dominant Alport syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant brachyolmia
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant cutis laxa
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant dopa-responsive dystonia
Autosomal dominant epidermolytic ichthyosis
Autosomal dominant epilepsy with auditory features
Autosomal dominant focal dystonia, DYT25 type
Autosomal dominant generalized dystrophic epidermolysis bullosa
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypocalcemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant keratitis
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant omodysplasia
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic form
Autosomal dominant osteopetrosis type 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary microcephaly
Autosomal dominant severe congenital neutropenia
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant vitreoretinochoroidopathy
Autosomal erythropoietic protoporphyria
Autosomal recessive Alport syndrome
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 2B
Autosomal recessive distal renal tubular acidosis
Autosomal recessive dopa-responsive dystonia
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive multiple pterygium syndrome
Autosomal recessive omodysplasia
Autosomal recessive polycystic kidney disease
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spondylocostal dysostosis
Axenfeld-Rieger syndrome
Aymé-Gripp syndrome
B-cell chronic lymphocytic leukemia
B4GALT1-CDG
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
BAP1-related tumor predisposition syndrome
BENTA disease
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
BNAR syndrome
BOR syndrome
Bacterial susceptibility due to TLR signaling pathway deficiency
Bainbridge-Ropers syndrome
Baller-Gerold syndrome
Bamforth-Lazarus syndrome
Band heterotopia
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial 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
Barth syndrome
Bartsocas-Papas syndrome
Bartter syndrome type 3
Bartter syndrome type 4
Becker muscular dystrophy
Becker nevus syndrome
Behavioral variant of frontotemporal dementia
Behçet disease
Benign concentric annular macular dystrophy
Benign familial infantile epilepsy
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Benign hereditary chorea
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Bernard-Soulier syndrome
Best vitelliform macular dystrophy
Beta-ketothiolase deficiency
Beta-mannosidosis
Beta-propeller protein-associated neurodegeneration
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Bethlem myopathy
Bietti crystalline dystrophy
Bifunctional enzyme deficiency
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral multicystic dysplastic kidney
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bilateral striopallidodentate calcinosis
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Birdshot chorioretinopathy
Birt-Hogg-Dubé syndrome
Björnstad syndrome
Blackfan-Diamond anemia
Bladder exstrophy
Blau syndrome
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding disorder due to P2Y12 defect
Blepharo-cheilo-odontic syndrome
Blepharophimosis-intellectual disability syndrome, Ohdo type
Blomstrand lethal chondrodysplasia
Bloom syndrome
Blue cone monochromatism
Blue rubber bleb nevus
Bohring-Opitz syndrome
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Bowen-Conradi syndrome
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type C
Brachydactyly type E
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachyolmia-amelogenesis imperfecta syndrome
Brachytelephalangic chondrodysplasia punctata
Bradyopsia
Brain demyelination due to methionine adenosyltransferase deficiency
Brain dopamine-serotonin vesicular transport disease
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Brain-lung-thyroid syndrome
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchioskeletogenital syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Brittle cornea syndrome
Brody myopathy
Bruck syndrome
Bruck syndrome 2
Brugada syndrome
Brugada syndrome 3
Brugada syndrome 4
Budd-Chiari syndrome
Bullous pemphigoid
Burkitt lymphoma
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
Butyrylcholinesterase deficiency
C syndrome
C1q deficiency
CAD-CDG
CADDS
CAMOS syndrome
CDKL5-deficiency disorder
CEDNIK syndrome
CHARGE syndrome
CHILD syndrome
CHIME syndrome
CHST3-related skeletal dysplasia
CINCA syndrome
CLN1 disease
CLN10 disease
CLN2 disease
CLN3 disease
CLN4B disease
CLN5 disease
CLN6 disease
CLN7 disease
CLOVES syndrome
COASY protein-associated neurodegeneration
CODAS syndrome
COFS syndrome
COG1-CDG
COG4-CDG
COG5-CDG
COG6-CGD
COG7-CDG
COG8-CDG
Caffey disease
Calpain-3-related limb-girdle muscular dystrophy R1
Campomelic dysplasia
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camurati-Engelmann disease
Cantú syndrome
Cap myopathy
Capillary malformation-arteriovenous malformation
Carbamoyl-phosphate synthetase 1 deficiency
Carcinoid syndrome
Cardiac arrhythmia, ankyrin-b-related
Cardiac-valvular Ehlers-Danlos syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy, dilated, 1a
Cardiomyopathy, dilated, 1e
Cardiospondylocarpofacial syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Carnitine palmitoyl transferase 1A deficiency
Carnitine-acylcarnitine translocase deficiency
Caroli disease
Carpenter syndrome
Cartilage-hair hypoplasia
Carvajal syndrome
Cataract 18
Cataract 35
Cataract 4, multiple types
Cataract-glaucoma syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Catecholaminergic polymorphic ventricular tachycardia
Catel-Manzke syndrome
Caudal regression syndrome
Cenani-Lenz syndrome
Central areolar choroidal dystrophy
Central core disease
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Cerebrocostomandibular syndrome
Cerebrofacioarticular syndrome
Cerebrofaciothoracic dysplasia
Cerebrotendinous xanthomatosis
Cerulean cataract
Char syndrome
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4G
Cherubism
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset hypophosphatasia
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Childhood-onset nemaline myopathy
Cholangiocarcinoma
Cholesteryl ester storage disease
Chondrocalcinosis 1
Chondrodysplasia with joint dislocations, gPAPP type
Chondrosarcoma
Chordoma
Choreoacanthocytosis
Choroid plexus carcinoma
Choroideremia
Christianson syndrome
Chromophobe renal cell carcinoma
Chronic atrial and intestinal dysrhythmia syndrome
Chronic beryllium disease
Chronic granulomatous disease
Chronic mucocutaneous candidiasis
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic neutrophilic leukemia
Chronic visceral acid sphingomyelinase deficiency
Chudley-McCullough syndrome
Chylomicron retention disease
Chédiak-Higashi syndrome
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Citrullinemia type II
Class I glucose-6-phosphate dehydrogenase deficiency
Classic galactosemia
Classic glucose transporter type 1 deficiency syndrome
Classic hairy cell leukemia
Classic homocystinuria
Classic multiminicore myopathy
Classic mycosis fungoides
Classical Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 1
Cleft lip/palate-ectodermal dysplasia syndrome
Cleidocranial dysplasia
Coats disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Cohen syndrome
Cole-Carpenter syndrome
Coloboma of eye lens
Coloboma of iris
Coloboma of macula
Coloboma of optic disc
Colobomatous microphthalmia
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with granulomatosis
Combined malonic and methylmalonic acidemia
Combined pituitary hormone deficiencies, genetic forms
Common variable immunodeficiency
Complement component 2 deficiency
Complement component 5 deficiency
Complement component 8 deficiency, type i
Complement component 8 deficiency, type ii
Complete androgen insensitivity syndrome
Cone dystrophy with supernormal rod response
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, x-linked, 1
Cone-rod dystrophy, x-linked, 2
Cone-rod dystrophy, x-linked, 3
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital alpha2-antiplasmin deficiency
Congenital alveolar capillary dysplasia
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital atransferrinemia
Congenital bilateral absence of vas deferens
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 2
Congenital bile acid synthesis defect type 4
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital central hypoventilation syndrome
Congenital chloride diarrhea
Congenital contractural arachnodactyly
Congenital diaphragmatic hernia
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III
Congenital erythropoietic porphyria
Congenital factor II deficiency
Congenital factor V deficiency
Congenital factor VII deficiency
Congenital factor X deficiency
Congenital factor XI deficiency
Congenital factor XII deficiency
Congenital factor XIII deficiency
Congenital fiber-type disproportion myopathy
Congenital fibrosis of extraocular muscles
Congenital generalized lipodystrophy
Congenital glaucoma
Congenital hereditary endothelial dystrophy type II
Congenital high-molecular-weight kininogen deficiency
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Congenital intrauterine infection-like syndrome
Congenital intrinsic factor deficiency
Congenital isolated ACTH deficiency
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital mesoblastic nephroma
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy, Ullrich type
Congenital nephrotic syndrome, Finnish type
Congenital non-bullous ichthyosiform erythroderma
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital stationary night blindness
Congenital sucrase-isomaltase deficiency
Congenital thrombotic thrombocytopenic purpura
Congenital tufting enteropathy
Constitutional megaloblastic anemia with severe neurologic disease
Continuous spikes and waves during sleep
Corneal dystrophy, lattice type iiia
Corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum agenesis-neuronopathy syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Corticosteroid-binding globulin deficiency
Costello syndrome
Cowden syndrome
Coxopodopatellar syndrome
Cramp-fasciculation syndrome
Cranio-osteoarthropathy
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia, autosomal dominant
Cranioectodermal dysplasia
Craniofacial-deafness-hand syndrome
Craniofrontonasal dysplasia
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive
Craniopharyngioma
Craniorachischisis
Craniosynostosis, Boston type
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crisponi syndrome
Crouzon syndrome
Currarino syndrome
Curry-Jones syndrome
Cushing disease
Cushing syndrome due to macronodular adrenal hyperplasia
Cutaneous mastocytoma
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis marmorata telangiectatica congenita
Cyclic neutropenia
Cystathioninuria
Cystic fibrosis
Cystic leukoencephalopathy without megalencephaly
D-2-hydroxyglutaric aciduria
D-glyceric aciduria
DDOST-CDG
DK1-CDG
DOCK2 deficiency
DOORS syndrome
DPAGT1-CDG
DPM1-CDG
DPM3-CDG
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Darier disease
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness, autosomal dominant 17
Deafness, autosomal dominant 22
Deafness, autosomal dominant 23
Deafness, autosomal dominant 24
Deafness, autosomal dominant 3a
Deafness, autosomal dominant 53
Deafness, autosomal recessive 1a
Deafness, autosomal recessive 47
Deafness, autosomal recessive 51
Deafness, autosomal recessive 55
Deafness, x-linked 2
Deafness-enamel hypoplasia-nail defects syndrome
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Dehydrated hereditary stomatocytosis
Dejerine-Sottas syndrome
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Dense deposit disease
Dentatorubral pallidoluysian atrophy
Dentin dysplasia type I
Dentin dysplasia type II
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Denys-Drash syndrome
Dermatofibrosarcoma protuberans
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Desbuquois syndrome
Desmoid tumor
Desmoplastic small round cell tumor
Desmosterolosis
Developmental and epileptic encephalopathy 12
Developmental and epileptic encephalopathy 13
Developmental and epileptic encephalopathy 17
Developmental and epileptic encephalopathy 18
Developmental and epileptic encephalopathy 26
Developmental and epileptic encephalopathy 4
Developmental and epileptic encephalopathy 94
Developmental malformations-deafness-dystonia syndrome
Diamond-blackfan anemia 2
Diamond-blackfan anemia 3
Diaphyseal medullary stenosis-bone malignancy syndrome
Diastrophic dysplasia
Dicarboxylic aminoaciduria
Differentiated thyroid carcinoma
Diffuse cutaneous systemic sclerosis
Diffuse panbronchiolitis
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Disseminated superficial actinic porokeratosis
Distal arthrogryposis type 1
Distal hereditary motor neuropathy, Jerash type
Distal myopathy, Welander type
Distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Donnai-Barrow syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopamine beta-hydroxylase deficiency
Dowling-Degos disease
Dravet syndrome
Duane retraction syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Dyggve-Melchior-Clausen disease
Dysbetalipoproteinemia
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis hereditaria
Dysequilibrium syndrome
Dysferlin-related limb-girdle muscular dystrophy R2
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, x-linked
Dysosteosclerosis
Dyssegmental dysplasia, Silverman-Handmaker type
Dystonia 16
EAST syndrome
EEC syndrome
EEM syndrome
Ear-patella-short stature syndrome
Early infantile epileptic encephalopathy
Early-onset anterior polar cataract
Early-onset autosomal dominant Alzheimer disease
Early-onset generalized limb-onset dystonia
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset parkinsonism-intellectual disability syndrome
Ebstein malformation of the tricuspid valve
Ectodermal dysplasia-skin fragility syndrome
Ectopia lentis 2, isolated, autosomal recessive
Ellis Van Creveld syndrome
Embryonal rhabdomyosarcoma
Emery-dreifuss muscular dystrophy 2, autosomal dominant
Enamel-renal syndrome
Encephalocraniocutaneous lipomatosis
Endometrial stromal sarcoma
Endosteal hyperostosis, Worth type
Endosteal sclerosis-cerebellar hypoplasia syndrome
Ependymoma
Epidermodysplasia verruciformis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolytic palmoplantar keratoderma
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 6
Epithelial basement membrane dystrophy
Essential thrombocythemia
Ethylmalonic encephalopathy
Exercise-induced hyperinsulinism
Exostoses, multiple, type i
Exostoses, multiple, type ii
Exostoses, multiple, type iii
Eye defects-arachnodactyly-cardiopathy syndrome
FG syndrome type 1
FGFR2-related bent bone dysplasia
FKRP-related limb-girdle muscular dystrophy R9
FLNA-related X-linked myxomatous valvular dysplasia
FRAXE intellectual disability
FTH1-related iron overload
Fabry disease
Facioscapulohumeral dystrophy
Familial LCAT deficiency
Familial Mediterranean fever
Familial abdominal aortic aneurysm
Familial acute necrotizing encephalopathy
Familial advanced sleep-phase syndrome
Familial afibrinogenemia
Familial aortic dissection
Familial apolipoprotein A5 deficiency
Familial apolipoprotein C-II deficiency
Familial atrial fibrillation
Familial atrial myxoma
Familial atypical multiple mole melanoma syndrome
Familial avascular necrosis of femoral head
Familial benign chronic pemphigus
Familial calcium pyrophosphate deposition
Familial cerebral cavernous malformation
Familial cold urticaria
Familial congenital mirror movements
Familial drusen
Familial dysautonomia
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial expansile osteolysis
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial glucocorticoid deficiency
Familial hemophagocytic lymphohistiocytosis
Familial hyperaldosteronism type I
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypofibrinogenemia
Familial isolated dilated cardiomyopathy
Familial isolated pituitary adenoma
Familial lipase maturation factor 1 deficiency
Familial lipoprotein lipase deficiency
Familial male-limited precocious puberty
Familial melanoma
Familial mitral valve prolapse
Familial multiple nevi flammei
Familial normophosphatemic tumoral calcinosis
Familial or sporadic hemiplegic migraine
Familial osteochondritis dissecans
Familial pancreatic carcinoma
Familial papillary or follicular thyroid carcinoma
Familial paroxysmal ataxia
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial progressive cardiac conduction defect
Familial prostate cancer
Familial renal glucosuria
Familial retinal arterial macroaneurysm
Familial scaphocephaly syndrome, McGillivray type
Familial sick sinus syndrome
Familial spontaneous pneumothorax
Familial thoracic aortic aneurysm and aortic dissection
Familial visceral myopathy
Fanconi anemia
Fanconi-Bickel syndrome
Farber disease
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fatal familial insomnia
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatty acid hydroxylase-associated neurodegeneration
Female restricted epilepsy with intellectual disability
Fetal akinesia deformation sequence
Fetal and neonatal alloimmune thrombocytopenia
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibromatosis, gingival, 1
Fibromatosis, gingival, 2
Fibromatosis, gingival, 3
Fibromatosis, gingival, 4
Fibrosarcoma
Fibular aplasia-complex brachydactyly syndrome
Filippi syndrome
Fish-eye disease
Floating-Harbor syndrome
Focal dermal hypoplasia
Focal facial dermal dysplasia type III
Follicular lymphoma
Formiminoglutamic aciduria
Foveal hypoplasia-presenile cataract syndrome
Fragile X syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Frontometaphyseal dysplasia
Fructose-1,6-bisphosphatase deficiency
Fryns syndrome
Fuchs endothelial corneal dystrophy
Fucosidosis
Fuhrmann syndrome
Fumaric aciduria
GAPO syndrome
GCGR-related hyperglucagonemia
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GNE myopathy
GRACILE syndrome
GTP cyclohydrolase I deficiency
Galactokinase deficiency
Galactosialidosis
Galloway-Mowat syndrome
Gamma-aminobutyric acid transaminase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Gardner syndrome
Gastrointestinal stromal tumor
Gaucher disease type 1
Gelatinous drop-like corneal dystrophy
Geleophysic dysplasia
Generalized arterial calcification of infancy
Generalized glucocorticoid resistance syndrome
Generalized pseudohypoaldosteronism type 1
Generalized pustular psoriasis
Genetic steroid-resistant nephrotic syndrome
Genitopatellar syndrome
Geroderma osteodysplastica
Gerstmann-Straussler-Scheinker syndrome
Ghosal hematodiaphyseal dysplasia
Giant axonal neuropathy
Giant cell arteritis
Gingival fibromatosis-hypertrichosis syndrome
Gitelman syndrome
Glanzmann thrombasthenia
Glaucoma 1, open angle, a
Glaucoma 3, primary infantile, b
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Gliosarcoma
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glucose-galactose malabsorption
Glutaric acidemia type 3
Glutaryl-CoA dehydrogenase deficiency
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
Gnathodiaphyseal dysplasia
Goldberg-Shprintzen megacolon syndrome
Goldmann-Favre syndrome
Gollop-Wolfgang complex
Gordon syndrome
Gorlin syndrome
Gorlin-Chaudhry-Moss syndrome
Graham Little-Piccardi-Lassueur syndrome
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Granulomatosis with polyangiitis
Gray platelet syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Guanidinoacetate methyltransferase deficiency
Guttmacher syndrome
Gynandroblastoma
Gyrate atrophy of choroid and retina
H syndrome
HANAC syndrome
HELLP syndrome
Haim-Munk syndrome
Hajdu-Cheney syndrome
Hand-foot-genital syndrome
Harlequin ichthyosis
Hartnup disease
Hartsfield syndrome
Hawkinsinuria
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart-hand syndrome, Slovenian type
Hemimegalencephaly
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin M disease
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hennekam syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatoerythropoietic porphyria
Hereditary arterial and articular multiple calcification syndrome
Hereditary chronic pancreatitis
Hereditary clear cell renal cell carcinoma
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary cryohydrocytosis with normal stomatin
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary elliptocytosis
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary hemorrhagic telangiectasia
Hereditary hyperekplexia
Hereditary hyperferritinemia-cataract syndrome
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary leiomyomatosis and renal cell cancer
Hereditary methemoglobinemia
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary myopathy with early respiratory failure
Hereditary neuropathy with liability to pressure palsies
Hereditary orotic aciduria
Hereditary pheochromocytoma-paraganglioma
Hereditary pulmonary alveolar proteinosis
Hereditary renal hypouricemia
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary spherocytosis
Hereditary thrombophilia due to congenital antithrombin deficiency
Hermansky-pudlak syndrome 2
Herpes simplex virus encephalitis
Hidrotic ectodermal dysplasia
High myopia-sensorineural deafness syndrome
Hip dysplasia, Beukes type
Hirschsprung disease
Hirschsprung disease-ganglioneuroblastoma syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Holt-Oram syndrome
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homozygous familial hypercholesterolemia
Horizontal gaze palsy with progressive scoliosis
Hoyeraal-Hreidarsson syndrome
Huntington disease
Huriez syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
Hyaline body myopathy
Hydranencephaly
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrolethalus
Hydroxykynureninuria
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperandrogenism due to cortisone reductase deficiency
Hypercholesterolemia, familial, 2
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperimmunoglobulinemia D with periodic fever
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemic periodic paralysis
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Hyperlysinemia
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis corticalis generalisata
Hyperparathyroidism-jaw tumor syndrome
Hyperprolinemia type 1
Hyperprolinemia type 2
Hypertryptophanemia
Hypobetalipoproteinemia, familial, 1
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodontia-dysplasia of nails syndrome
Hypogonadotropic hypogonadism 1 with or without anosmia
Hypogonadotropic hypogonadism 12 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 3 with or without anosmia
Hypogonadotropic hypogonadism 4 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypogonadotropic hypogonadism 6 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypokalemic periodic paralysis
Hypomaturation amelogenesis imperfecta
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoplasminogenemia
Hypoplastic amelogenesis imperfecta
Hypoplastic left heart syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Hypotrichosis 7
Hypotrichosis simplex
Hypotrichosis with juvenile macular degeneration
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ICF syndrome
IMAGe syndrome
IRIDA syndrome
IVIC syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis hystrix of Curth-Macklin
Ichthyosis, congenital, autosomal recessive 1
Ichthyosis, congenital, autosomal recessive 4a
Ichthyosis, congenital, autosomal recessive 5
Ichthyosis-hypotrichosis syndrome
Ichthyosis-prematurity syndrome
Idiopathic CD4 lymphocytopenia
Idiopathic achalasia
Idiopathic aplastic anemia
Idiopathic juvenile osteoporosis
Idiopathic pulmonary fibrosis
Idiopathic ventricular fibrillation, non Brugada type
Imerslund-Gräsbeck syndrome
Iminoglycinuria
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune thrombocytopenia
Immunodeficiency 61
Immunodeficiency by defective expression of MHC class I
Immunodeficiency by defective expression of MHC class II
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Infantile Refsum disease
Infantile cerebellar-retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile convulsions and choreoathetosis
Infantile dystonia-parkinsonism
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile liver failure syndrome 2
Infantile myofibromatosis
Infantile neuroaxonal dystrophy
Infantile neurovisceral acid sphingomyelinase deficiency
Infantile osteopetrosis with neuroaxonal dysplasia
Infantile spasms syndrome
Infantile systemic hyalinosis
Infantile-onset X-linked spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Infantile-onset spinocerebellar ataxia
Inflammatory myofibroblastic tumor
Insulin-resistance syndrome type A
Insulinoma
Intellectual developmental disorder, autosomal dominant 29
Intellectual developmental disorder, autosomal dominant 30
Intellectual developmental disorder, autosomal dominant 43
Intellectual developmental disorder, autosomal dominant 5
Intellectual developmental disorder, autosomal dominant 6, with or without seizures
Intellectual developmental disorder, x-linked 29
Intellectual developmental disorder, x-linked 63
Intellectual developmental disorder, x-linked, syndromic, turner type
Intellectual disability, Birk-Barel type
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-hypotonic facies syndrome, x-linked, 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intermediate nemaline myopathy
Intermediate osteopetrosis
Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
Intrahepatic cholestasis of pregnancy
Isobutyryl-CoA dehydrogenase deficiency
Isolated Klippel-Feil syndrome
Isolated Pierre Robin syndrome
Isolated aniridia
Isolated childhood apraxia of speech
Isolated complex I deficiency
Isolated complex III deficiency
Isolated congenital adermatoglyphia
Isolated congenital anosmia
Isolated congenital breast hypoplasia/aplasia
Isolated congenital megalocornea
Isolated cytochrome C oxidase deficiency
Isolated ectopia lentis
Isolated follicle stimulating hormone deficiency
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated hemihyperplasia
Isolated optic nerve hypoplasia/aplasia
Isolated permanent neonatal diabetes mellitus
Isolated polycystic liver disease
Isolated split hand-split foot malformation
Isolated succinate-CoQ reductase deficiency
Isolated sulfite oxidase deficiency
Isolated thyroid-stimulating hormone deficiency
Isovaleric acidemia
Jackson-Weiss syndrome
Jacobsen syndrome
Jalili syndrome
Jervell and Lange-Nielsen syndrome
Jeune syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Joubert syndrome 2
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile Huntington disease
Juvenile Paget disease
Juvenile absence epilepsy
Juvenile amyotrophic lateral sclerosis
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile primary lateral sclerosis
KBG syndrome
KCNQ2-related epileptic encephalopathy
KID syndrome
KRT1-related diffuse nonepidermolytic keratoderma
Kabuki syndrome
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Kallmann syndrome
Kaposiform hemangioendothelioma
Karyomegalic interstitial nephritis
Kearns-Sayre syndrome
Keipert syndrome
Kennedy disease
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
Keratoderma hereditarium mutilans
Keratolytic winter erythema
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris striata iii
Keutel syndrome
Kindler epidermolysis bullosa
King-Denborough syndrome
Kleine-Levin syndrome
Kniest dysplasia
Knobloch syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Kostmann syndrome
Kufor-Rakeb syndrome
Kuru
Kuskokwim syndrome
L-2-hydroxyglutaric aciduria
L-Arginine:glycine amidinotransferase deficiency
Lacrimoauriculodentodigital syndrome
Lafora disease
Laing early-onset distal myopathy
Lamellar ichthyosis
Laminin subunit alpha 2-related congenital muscular dystrophy
Landau-Kleffner syndrome
Langer mesomelic dysplasia
Langerhans cell histiocytosis
Large congenital melanocytic nevus
Laron syndrome
Larsen syndrome
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset retinal degeneration
Lateral meningocele syndrome
Lathosterolosis
Lattice corneal dystrophy type I
Laurence-Moon syndrome
Laurin-Sandrow syndrome
Leber congenital amaurosis
Leber hereditary optic neuropathy
Left ventricular noncompaction
Legg-Calvé-Perthes disease
Legius syndrome
Lennox-Gastaut syndrome
Lenz-Majewski hyperostotic dwarfism
Leprechaunism
Lesch-Nyhan syndrome
Lethal acantholytic erosive disorder
Lethal ataxia with deafness and optic atrophy
Lethal congenital contracture syndrome 4
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Lethal multiple pterygium syndrome
Lethal osteosclerotic bone dysplasia
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type II
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukonychia totalis
Leydig cell hypoplasia due to LHB deficiency
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Liddle syndrome
Limb-mammary syndrome
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Linear nevus sebaceus syndrome
Lipodystrophy, congenital generalized, type 1
Lipodystrophy, congenital generalized, type 3
Lipodystrophy, congenital generalized, type 4
Lipoic acid synthetase deficiency
Lipoid proteinosis
Lissencephaly type 1 due to doublecortin gene mutation
Localized dystrophic epidermolysis bullosa, pretibial form
Localized epidermolysis bullosa simplex
Loeys-Dietz syndrome
Loeys-dietz syndrome 1
Loeys-dietz syndrome 2
Loeys-dietz syndrome 4
Loeys-dietz syndrome 5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long qt syndrome 10
Long qt syndrome 11
Long qt syndrome 2
Long qt syndrome 3
Long qt syndrome 5
Long qt syndrome 6
Long qt syndrome 9
Lowry-Wood syndrome
Lujan-Fryns syndrome
Lymphangioleiomyomatosis
Lymphatic malformation 1
Lymphedema-distichiasis syndrome
Lymphomatoid papulosis
Lynch syndrome
Lysinuric protein intolerance
Léri-Weill dyschondrosteosis
MAGEL2-related Prader-Willi-like syndrome
MALT lymphoma
MAN1B1-CDG
MASA syndrome
MEGDEL syndrome
MEHMO syndrome
MEPAN syndrome
MGAT2-CDG
MIRAGE syndrome
MODY
MOGS-CDG
MORM syndrome
MPDU1-CDG
MPI-CDG
MUC1-related autosomal dominant tubulointerstitial kidney disease
MUTYH-related attenuated familial adenomatous polyposis
MYH7-related late-onset scapuloperoneal muscular dystrophy
MYH9-related disease
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macular corneal dystrophy
Maffucci syndrome
Majeed syndrome
Mal de Meleda
Male infertility due to globozoospermia
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Malignant Sertoli-Leydig cell tumor of the ovary
Malignant hyperthermia of anesthesia
Malignant migrating focal seizures of infancy
Malonic aciduria
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis-microcephaly syndrome
Mantle cell lymphoma
Marden-Walker syndrome
Marfan syndrome type 1
Marie Unna hereditary hypotrichosis
Marinesco-Sjögren syndrome
Marshall syndrome
Marshall-Smith syndrome
Maternal phenylketonuria
Matthew-Wood syndrome
McCune-Albright syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syndrome
Meacham syndrome
Meckel syndrome
Meckel syndrome, type 2
Meckel syndrome, type 3
Medium chain acyl-CoA dehydrogenase deficiency
Medullary sponge kidney
Meesmann corneal dystrophy
Megaconial congenital muscular dystrophy
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Meige disease
Melanoma and neural system tumor syndrome
Melnick-Needles syndrome
Melorheostosis with osteopoikilosis
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Meningioma
Meningioma, radiation-induced
Menkes disease
Mesoaxial synostotic syndactyly with phalangeal reduction
Metachondromatosis
Metaphyseal anadysplasia
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metatropic dysplasia
Methylcobalamin deficiency type cblG
Mevalonic aciduria
Micro syndrome
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcytic anemia with liver iron overload
Microduplication Xp11.22p11.23 syndrome
Microphthalmia with brain and digit anomalies
Microphthalmia with limb anomalies
Microphthalmia with linear skin defects syndrome
Microphthalmia, Lenz type
Microphthalmia, syndromic 12
Microvillus inclusion disease
Mild phenylketonuria
Miller-Dieker syndrome
Milroy disease
Mismatch repair cancer syndrome 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Mitochondrial trifunctional protein deficiency
Mitral valve prolapse 1
Miyoshi myopathy
Moebius syndrome
Mohr-Tranebjaerg syndrome
Monilethrix
Monoamine oxidase A deficiency
Monocytopenia with susceptibility to infections
Monomelic amyotrophy
Monosomy 22q13.3
Monosomy 5p
Morning glory disc anomaly
Mosaic variegated aneuploidy syndrome
Moyamoya disease
Muckle-Wells syndrome
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 4B
Mucopolysaccharidosis type 7
Muenke syndrome
Muir-Torre syndrome
Mulibrey nanism
Multicentric osteolysis, nodulosis, and arthropathy
Multiple benign circumferential skin creases on limbs
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple intestinal atresia
Multiple myeloma
Multiple osteochondromas
Multiple self-healing squamous epithelioma
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome
Multiple synostoses syndrome 2
Multisystemic smooth muscle dysfunction syndrome
Muscle-eye-brain disease
Musculocontractural Ehlers-Danlos syndrome
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Myasthenic syndrome, congenital, 2a, slow-channel
Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myeloperoxidase deficiency
Myhre syndrome
Myoclonic-astatic epilepsy
Myoclonus-dystonia syndrome
Myopia 6
Myostatin-related muscle hypertrophy
Myxoid/round cell liposarcoma
NDE1-related microhydranencephaly
NPHP3-related Meckel-like syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Nager syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Nance-Horan syndrome
Narcolepsy type 1
Nasopharyngeal carcinoma
Nasu-Hakola disease
Native American myopathy
Navajo neurohepatopathy
Naxos disease
Neonatal adrenoleukodystrophy
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal severe primary hyperparathyroidism
Nephroblastoma
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neuralgic amyotrophy
Neuroblastoma
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Neurodegeneration with brain iron accumulation 2b
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Neuroferritinopathy
Neurofibromatosis type 2
Neurofibromatosis-Noonan syndrome
Neurogenic arthrogryposis multiplex congenita
Neurogenic scapuloperoneal syndrome, Kaeser type
Neurological conditions associated with aminoacylase 1 deficiency
Neuronal intestinal pseudoobstruction
Neuronal intranuclear inclusion disease
Neutral lipid storage disease with ichthyosis
Neutral lipid storage myopathy
Nevus comedonicus syndrome
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-epidermolytic palmoplantar keratoderma
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with loose anagen hair
Norrie disease
Obesity due to congenital leptin deficiency
Obesity due to pro-opiomelanocortin deficiency
Occipital horn syndrome
Ochoa syndrome
Ocular albinism with late-onset sensorineural deafness
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal syndrome of Lowe
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital dysplasia
Oculofaciocardiodental syndrome
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Oculotrichoanal syndrome
Odonto-onycho-dermal dysplasia
Odontochondrodysplasia
Odontoleukodystrophy
Oguchi disease
Oligoarticular juvenile idiopathic arthritis
Oligoastrocytoma
Oligodendroglioma
Ollier disease
Omenn syndrome
Opitz GBBB syndrome
Opsismodysplasia
Optic atrophy 5
Optic atrophy 6
Ornithine transcarbamylase deficiency
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type 3
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 5
Orofaciodigital syndrome type 6
Osteocraniostenosis
Osteofibrous dysplasia
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
Osteogenesis imperfecta, type ix
Osteogenesis imperfecta, type vi
Osteogenesis imperfecta, type vii
Osteogenesis imperfecta, type viii
Osteoglosphonic dysplasia
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis with renal tubular acidosis
Osteopetrosis, autosomal recessive 1
Osteopetrosis, autosomal recessive 2
Osteopetrosis, autosomal recessive 5
Osteopetrosis-hypogammaglobulinemia syndrome
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Otodental syndrome
Otofaciocervical syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Otospondylomegaepiphyseal dysplasia
Overhydrated hereditary stomatocytosis
Oxoglutaric aciduria
PEHO syndrome
PGM1-CDG
PGM3-CDG
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
PMM2-CDG
PPARG-related familial partial lipodystrophy
Pachydermoperiostosis
Pachyonychia congenita
Pallister-Hall syndrome
Palmoplantar keratoderma i, striate, focal, or diffuse
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Panhypopituitarism, x-linked
Papillary renal cell carcinoma
Papilloma of choroid plexus
Papillon-Lefèvre syndrome
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paramyotonia congenita of Von Eulenburg
Parastremmatic dwarfism
Parathyroid carcinoma
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Parkinson disease 2, autosomal recessive juvenile
Parkinson disease 3, autosomal dominant
Parkinson-dementia complex of Guam
Parkinsonian-pyramidal syndrome
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal kinesigenic dyskinesia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal non-kinesigenic dyskinesia
Partial androgen insensitivity syndrome
Partial pancreatic agenesis
Partington syndrome
Patent ductus arteriosus 1
Pediatric hepatocellular carcinoma
Pediatric multiple sclerosis
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Pelviscapular dysplasia
Pendred syndrome
Pentosuria
Periodontal Ehlers-Danlos syndrome
Periventricular nodular heterotopia
Periventricular nodular heterotopia 1
Perlman syndrome
Peroxisomal acyl-CoA oxidase deficiency
Perrault syndrome
Perry syndrome
Persistent Müllerian duct syndrome
Peters anomaly
Peters plus syndrome
Peutz-Jeghers syndrome
Phakomatosis pigmentokeratotica
Phocomelia, Schinzel type
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Piebaldism
Pierson syndrome
Pilomatrixoma
Pitt-Hopkins syndrome
Pituitary gigantism
Pituitary hormone deficiency, combined 1
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
Platyspondylic dysplasia, Torrance type
Pleural mesothelioma
Pleuropulmonary blastoma familial tumor susceptibility syndrome
Poikiloderma with neutropenia
Polycystic kidney disease 4 with or without polycystic liver disease
Polycythemia vera
Polydactyly of a biphalangeal thumb
Polydactyly of a triphalangeal thumb
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Polyostotic fibrous dysplasia
Polysyndactyly
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 6
Porokeratosis 3, multiple types
Porokeratosis 4, disseminated superficial actinic type
Porokeratosis of Mibelli
Porphyria variegata
Postaxial acrofacial dysostosis
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior urethral valve
Postural orthostatic tachycardia syndrome due to NET deficiency
Potocki-Shaffer syndrome
Primary Fanconi renotubular syndrome
Primary biliary cholangitis
Primary ciliary dyskinesia
Primary dystonia, DYT2 type
Primary dystonia, DYT4 type
Primary dystonia, DYT6 type
Primary erythromelalgia
Primary familial polycythemia
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Primary hypomagnesemia with secondary hypocalcemia
Primary lateral sclerosis
Primary myelofibrosis
Primary pigmented nodular adrenocortical disease
Primary sclerosing cholangitis
Progeroid syndrome, Petty type
Progressive cone dystrophy
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive epilepsy-intellectual disability syndrome, Finnish type
Progressive familial heart block, type ia
Progressive familial heart block, type ib
Progressive familial heart block, type ii
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 4
Progressive myoclonic epilepsy type 1
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 6
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive pseudorheumatoid arthropathy of childhood
Prolactinoma
Prolidase deficiency
Properdin deficiency
Propionic acidemia
Proteasome-associated autoinflammatory syndrome 1
Proteus syndrome
Proteus-like syndrome
Proximal 16p11.2 microdeletion syndrome
Proximal Xq28 duplication syndrome
Proximal myopathy with extrapyramidal signs
Proximal myotonic myopathy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal symphalangism
Prune belly syndrome
Pseudo-von Willebrand disease
Pseudoachondroplasia
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Pterin-4 alpha-carbinolamine dehydratase deficiency
Pulmonary alveolar microlithiasis
Pulmonary venoocclusive disease
Punctate palmoplantar keratoderma type 1
Purine nucleoside phosphorylase deficiency
Pustulosis palmaris et plantaris
Pycnodysostosis
Pyle disease
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase phosphatase deficiency
Quebec platelet disorder
RAPADILINO syndrome
REN-related autosomal dominant tubulointerstitial kidney disease
RFT1-CDG
RHYNS syndrome
Rabson-Mendenhall syndrome
Radial hemimelia
Ramon syndrome
Rapid-onset dystonia-parkinsonism
Reactive arthritis
Recessive X-linked ichthyosis
Recurrent infection due to specific granule deficiency
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Reducing body myopathy
Refsum disease
Reis-Bücklers corneal dystrophy
Renal coloboma syndrome
Renal pseudohypoaldosteronism type 1
Restrictive dermopathy
Reticular dysgenesis
Retinal cone dystrophy 1
Retinal cone dystrophy 3a
Retinal cone dystrophy 4
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinopathy of prematurity
Rett syndrome
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Rhizomelic chondrodysplasia punctata type 1
Richieri Costa-Pereira syndrome
Right sided atrial isomerism
Rigid spine syndrome
Ring dermoid of cornea
Rippling muscle disease
Rippling muscle disease 1
Roberts syndrome
Roifman syndrome
Rolandic epilepsy
Romano-Ward syndrome
Rotor syndrome
Roussy-Lévy syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
S-adenosylhomocysteine hydrolase deficiency
SERKAL syndrome
SHORT syndrome
SLC35A1-CDG
SLC35A2-CDG
SPECC1L-related hypertelorism syndrome
SPONASTRIME dysplasia
SRD5A3-CDG
SSR4-CDG
STING-associated vasculopathy with onset in infancy
Saccharopinuria
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Sandhoff disease, infantile form
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Sanjad-Sakati syndrome
Sarcoidosis
Sarcosinemia
Scalp-ear-nipple syndrome
Scapuloperoneal spinal muscular atrophy
Scheie syndrome
Schilbach-Rott syndrome
Schimke immuno-osseous dysplasia
Schinzel-Giedion syndrome
Schneckenbecken dysplasia
Schnyder corneal dystrophy
Schwannomatosis
Schwartz-Jampel syndrome
Sclerosteosis
Scott syndrome
Sea-blue histiocytosis
Sebocystomatosis
Seckel syndrome
Seizures, benign familial infantile, 1
Self-improving dystrophic epidermolysis bullosa
Semantic dementia
Senior-Loken syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Septo-optic dysplasia spectrum
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to FOXN1 deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital nemaline myopathy
Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe primary trimethylaminuria
Short chain acyl-CoA dehydrogenase deficiency
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type
Short stature due to growth hormone qualitative anomaly
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Shprintzen-Goldberg syndrome
Shwachman-Diamond syndrome
Sialidosis type 1
Sialuria
Sickle cell anemia
Sickle cell-beta-thalassemia disease syndrome
Sickle cell-hemoglobin C disease syndrome
Sickle cell-hemoglobin D disease syndrome
Simpson-Golabi-Behmel syndrome
Singleton-Merten dysplasia
Sitosterolemia
Situs inversus totalis
Sjögren-Larsson syndrome
Skeletal Ewing sarcoma
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Small cell carcinoma of the ovary
Small cell lung cancer
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia
Sneddon syndrome
Snowflake vitreoretinal degeneration
Solitary median maxillary central incisor
Sorsby fundus dystrophy
Sotos syndrome
Spastic paraplegia 51, autosomal recessive
Spastic paraplegia type 2
Spastic paraplegia type 7
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spheroid body myopathy
Spinal muscular atrophy with congenital bone fractures 1
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 18
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 37
Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8
Spinocerebellar ataxia with axonal neuropathy type 1
Spinocerebellar ataxia with axonal neuropathy type 2
Spondylocarpotarsal synostosis
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia, Geneviève type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda, x-linked
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondyloperipheral dysplasia-short ulna syndrome
Sporadic pheochromocytoma/secreting paraganglioma
Stargardt disease
Sterile multifocal osteomyelitis with periostitis and pustulosis
Stevens-Johnson syndrome
Stiff skin syndrome
Stormorken-Sjaastad-Langslet syndrome
Sturge-Weber syndrome
Stüve-Wiedemann syndrome
Subcortical band heterotopia
Subcutaneous panniculitis-like T-cell lymphoma
Succinic semialdehyde dehydrogenase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Sudden infant death-dysgenesis of the testes syndrome
Superficial epidermolytic ichthyosis
Supravalvular aortic stenosis
Sweet syndrome
Symptomatic form of hemochromatosis type 1
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly type 8
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic microphthalmia type 5
Syndromic multisystem autoimmune disease due to Itch deficiency
Synovial sarcoma
Syringocystadenoma papilliferum
Systemic primary carnitine deficiency
Systemic-onset juvenile idiopathic arthritis
Sézary syndrome
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-cell large granular lymphocyte leukemia
TARP syndrome
TMEM165-CDG
TRIM32-related limb-girdle muscular dystrophy R8
Takayasu arteritis
Tangier disease
Tarsal-carpal coalition syndrome
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 3
Telangiectasia, hereditary hemorrhagic, type 4
Telethonin-related limb-girdle muscular dystrophy R7
Temple-Baraitser syndrome
Temtamy preaxial brachydactyly syndrome
Testicular seminomatous germ cell tumor
Tetraamelia-multiple malformations syndrome
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine-responsive megaloblastic anemia syndrome
Thiel-Behnke corneal dystrophy
Thomsen and Becker disease
Thrombocytopenia 2
Thrombocytopenia-absent radius syndrome
Thrombophilia due to protein c deficiency, autosomal recessive
Thyroid cancer, nonmedullary, 2
Thyroid carcinoma, hurthle cell
Thyroid hypoplasia
Thyrotoxic periodic paralysis
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Tietz syndrome
Toriello-Carey syndrome
Toriello-Lacassie-Droste syndrome
Total early-onset cataract
Townes-Brocks syndrome
Transaldolase deficiency
Transient familial neonatal hyperbilirubinemia
Transient myeloproliferative syndrome
Transient neonatal diabetes mellitus
Treacher collins syndrome 3
Treacher-Collins syndrome
Trehalase deficiency
Tricho-dento-osseous syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome, type i
Trichorhinophalangeal syndrome, type iii
Trichothiodystrophy
Triose phosphate-isomerase deficiency
Triple A syndrome
Trismus-pseudocamptodactyly syndrome
Tuberous sclerosis complex
Tubular aggregate myopathy
Tufted angioma
Tukel syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Typical nemaline myopathy
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
UMOD-related autosomal dominant tubulointerstitial kidney disease
UV-sensitive syndrome
Ulnar-mammary syndrome
Uncombable hair syndrome
Urocanic aciduria
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Uveal coloboma-cleft lip and palate-intellectual disability
Uveal melanoma
VACTERL with hydrocephalus
VACTERL/VATER association
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van der woude syndrome 2
Vascular Ehlers-Danlos syndrome
Vasculitis due to ADA2 deficiency
Vein of Galen aneurysmal malformation
Very long chain acyl-CoA dehydrogenase deficiency
Vibratory urticaria
Vici syndrome
Vocal cord and pharyngeal distal myopathy
Vogt-Koyanagi-Harada disease
Von Hippel-Lindau disease
WAGR syndrome
WHIM syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg-Shah syndrome
Wagner disease
Waldenström macroglobulinemia
Walker-Warburg syndrome
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
Werner syndrome
Whipple disease
White sponge nevus
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Williams syndrome
Wilms tumor 2
Wilson disease
Wilson-Turner syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Woodhouse-Sakati syndrome
Woolly hair
Woolly hair nevus
Wrinkly skin syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked cleft palate and ankyloglossia
X-linked congenital generalized hypertrichosis
X-linked creatine transporter deficiency
X-linked dominant chondrodysplasia punctata
X-linked dystonia-parkinsonism
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Snyder type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked myopathy with excessive autophagy
X-linked recessive ocular albinism
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked severe congenital neutropenia
X-linked sideroblastic anemia
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked spondyloepimetaphyseal dysplasia
X-linked thrombocytopenia with normal platelets
Xanthinuria type I
Xanthinuria type II
Xeroderma pigmentosum
Xeroderma pigmentosum variant
Xq21 microdeletion syndrome
Yunis-Varon syndrome
Zellweger syndrome
Zimmermann-Laband syndrome
Åland Islands eye disease
