Select a Disease:
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
14q11.2 microduplication syndrome
15q11.2 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q14 microdeletion syndrome
15q24 microdeletion syndrome
16p13.2 microdeletion syndrome
16q24.3 microdeletion syndrome
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p36 deletion syndrome
1q44 microdeletion syndrome
2-aminoadipic 2-oxoadipic aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
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
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoserine phosphatase deficiency, infantile/juvenile form
3C syndrome
3M syndrome
3MC syndrome
45,X/46,XY mixed gonadal dysgenesis
46,XX gonadal dysgenesis
46,XX ovarian dysgenesis-short stature syndrome
46,XX ovotesticular disorder of sex development
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 disorder of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY partial gonadal dysgenesis
46,xy sex reversal 2
5-oxoprolinase deficiency
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
6q terminal deletion syndrome
6q16 microdeletion syndrome
6q25 microdeletion syndrome
7q31 microdeletion syndrome
8p11.2 deletion syndrome
8p23.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
AA amyloidosis
AApoAI amyloidosis
AApoAII amyloidosis
ABeta amyloidosis, Arctic type
ABeta amyloidosis, Dutch type
ABeta amyloidosis, Iowa type
ABeta amyloidosis, Italian type
ABetaA21G amyloidosis
ABetaL34V amyloidosis
ABri amyloidosis
ACys amyloidosis
ADNP syndrome
ADULT syndrome
ADan amyloidosis
AFib amyloidosis
AGel amyloidosis
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
AICA-ribosiduria
AKT2-related familial partial lipodystrophy
ALDH18A1-related De Barsy syndrome
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
ALys amyloidosis
ANE syndrome
ANK3-related intellectual disability-sleep disturbance syndrome
APC-related attenuated familial adenomatous polyposis
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ATTRV122I amyloidosis
ATTRV30M amyloidosis
AXIN2-related attenuated familial adenomatous polyposis
Aarskog-Scott syndrome
Abetalipoproteinemia
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence of fingerprints-congenital milia syndrome
Acatalasemia
Aceruloplasminemia
Acetazolamide-responsive myotonia
Acetyl-CoA carboxylase deficiency
Acheiropodia
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondroplasia
Achromatopsia 2
Achromatopsia 3
Acquired idiopathic sideroblastic anemia
Acquired partial lipodystrophy
Acquired schizencephaly
Acral peeling skin syndrome
Acral self-healing collodion baby
Acro-renal-ocular syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrodermatitis continua of Hallopeau
Acrodermatitis enteropathica
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acrofacial dysostosis, Rodríguez type
Acrofacial dysostosis, Weyers type
Acrogeria
Acrokeratosis verruciformis of Hopf
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
Action myoclonus-renal failure syndrome
Activated PI3K-delta syndrome
Acute basophilic leukemia
Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute fatty liver of pregnancy
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Acute intermittent porphyria
Acute mast cell leukemia
Acute megakaryoblastic leukemia in Down syndrome
Acute megakaryoblastic leukemia without Down syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukaemia with myelodysplasia-related features
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with NPM1 somatic mutations
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 myeloid leukemia with minimal differentiation
Acute myeloid leukemia with t(6;9)(p23;q34)
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Acute myeloid leukemia with t(9;11)(p22;q23)
Acute necrotizing encephalopathy of childhood
Acute neonatal citrullinemia type I
Acute promyelocytic leukemia
Acute undifferentiated leukemia
Acyl-CoA dehydrogenase 9 deficiency
Adams-Oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma of ovary
Adenosine monophosphate deaminase deficiency
Adenylosuccinate lyase deficiency
Adenylosuccinate synthetase-like 1-related distal myopathy
Adiponectin deficiency
Adrenocortical carcinoma
Adrenomyeloneuropathy
Adult Krabbe disease
Adult hepatocellular carcinoma
Adult hypophosphatasia
Adult polyglucosan body disease
Adult-onset Steinert myotonic dystrophy
Adult-onset autosomal dominant leukodystrophy
Adult-onset autosomal recessive cerebellar ataxia
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset cervical dystonia, DYT23 type
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset citrullinemia type I
Adult-onset distal myopathy due to VCP mutation
Adult-onset dystonia-parkinsonism
Adult-onset foveomacular vitelliform dystrophy
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset myasthenia gravis
Age-related macular degeneration
Aggressive systemic mastocytosis
Agnathia-holoprosencephaly-situs inversus syndrome
Aicardi-Goutières syndrome
Alacrima, achalasia, and mental retardation syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Alazami syndrome
Alazami-Yuan syndrome
Albers-Schönberg osteopetrosis
Aldosterone-producing adenoma
Alexander disease type I
Alexander disease type II
Alkaline ceramidase 3 deficiency
Alkaptonuria
Allan-Herndon-Dudley syndrome
Alobar holoprosencephaly
Alopecia universalis
Alopecia-intellectual disability syndrome
Alopecia-intellectual disability syndrome 2
Alpers-Huttenlocher syndrome
Alpha delta granule deficiency
Alpha-1-antitrypsin deficiency
Alpha-2-macroglobulin deficiency
Alpha-B crystallin-related late-onset myopathy
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Alpha-mannosidosis, adult form
Alpha-mannosidosis, infantile form
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Alpha-thalassemia-X-linked intellectual disability syndrome
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Alpha-thalassemia-myelodysplastic syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alström syndrome
Alternating hemiplegia of childhood
Alveolar rhabdomyosarcoma
Alveolar soft tissue sarcoma
Alzheimer disease
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
Amyloidosis cutis dyschromia
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia
Amyotrophic lateral sclerosis type 4
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
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Angiocentric glioma
Angioma serpiginosum, x-linked
Anhaptoglobinemia
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankylosing spondylitis
Annular epidermolytic ichthyosis
Anoctamin-5-related limb-girdle muscular dystrophy R12
Anonychia congenita totalis
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Aortic aneurysm, familial thoracic 4
Apert syndrome
Aplasia cutis congenita
Aplasia of lacrimal and salivary glands
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-anterior horn cell disease syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Aspartate aminotransferase, serum level of, QTL1
Aspartylglucosaminuria
Asperger syndrome
Asthma and nasal polyps
Ataxia with vitamin E deficiency
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Ataxia-oculomotor apraxia 3
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 4
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Ataxia-telangiectasia-like disorder
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Athabaskan brainstem dysgenesis syndrome
Athyreosis
Atrial septal defect, ostium primum type
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Atrial septal defect-atrioventricular conduction defects syndrome
Atrial standstill
Atrichia with papular lesions
Atrophoderma vermiculata
Attenuated Chédiak-Higashi syndrome
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Atypical Gaucher disease due to saposin C deficiency
Atypical Rett syndrome
Atypical Timothy syndrome
Atypical Werner syndrome
Atypical chronic myeloid leukemia
Atypical dentin dysplasia due to SMOC2 deficiency
Atypical glycine encephalopathy
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hypotonia-cystinuria syndrome
Atypical juvenile parkinsonism
Atypical pantothenate kinase-associated neurodegeneration
Atypical teratoid rhabdoid tumor
Auditory neuropathy-optic atrophy syndrome
Auriculocondylar syndrome
Autism
Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Autoimmune interstitial lung disease-arthritis 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
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal agammaglobulinemia
Autosomal dominant Alport syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
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 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant Robinow syndrome
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant aplasia and myelodysplasia
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 axonal motor neuropathy-myofibrillar myopathy 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 focal non-epidermolytic palmoplantar keratoderma with plantar blistering
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 hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hypocalcemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant hypophosphatemic rickets
Autosomal dominant ichthyosis vulgaris
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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 intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant keratitis
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant macrothrombocytopenia
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant multiple pterygium syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant non-syndromic sensorineural deafness type DFNA
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 otospondylomegaepiphyseal dysplasia
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 preaxial polydactyly-upperback hypertrichosis syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary microcephaly
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant secondary polycythemia
Autosomal dominant severe congenital neutropenia
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant spastic ataxia type 1
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 19
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 36
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 41
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 73
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 80
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal dominant spondylocostal dysostosis
Autosomal dominant striatal neurodegeneration
Autosomal dominant thrombocytopenia with platelet secretion defect
Autosomal dominant vitreoretinochoroidopathy
Autosomal erythropoietic protoporphyria
Autosomal recessive Alport syndrome
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive Stickler syndrome
Autosomal recessive anterior segment dysgenesis
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive brachyolmia
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cerebral atrophy
Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive cutis laxa type 2B
Autosomal recessive distal renal tubular acidosis
Autosomal recessive dopa-responsive dystonia
Autosomal recessive epidermolytic ichthyosis
Autosomal recessive extra-oral halitosis
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive hypophosphatemic rickets
Autosomal recessive infantile hypercalcemia
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Autosomal recessive isolated optic atrophy
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive malignant osteopetrosis
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Autosomal recessive multiple pterygium syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive nail dysplasia
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Autosomal recessive omodysplasia
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive polycystic kidney disease
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive sideroblastic anemia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 57
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Autosomal recessive spastic paraplegia type 74
Autosomal recessive spastic paraplegia type 75
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 77
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 82
Autosomal recessive spastic paraplegia type 83
Autosomal recessive spastic paraplegia type 84
Autosomal recessive spastic paraplegia type 85
Autosomal recessive spastic paraplegia type 86
Autosomal recessive spastic paraplegia type 87
Autosomal recessive spastic paraplegia type 9B
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spondylocostal dysostosis
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Autosomal semi-dominant severe lipodystrophic laminopathy
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 72
Autosomal systemic lupus erythematosus
Autosomal thrombocytopenia with normal platelets
Axenfeld anomaly
Axenfeld-Rieger syndrome
Aymé-Gripp syndrome
B-cell chronic lymphocytic leukemia
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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
BRESEK syndrome
BVES-related limb-girdle muscular dystrophy
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 2
Bartter syndrome type 3
Bartter syndrome type 4
Bartter syndrome, type 1
Basel-Vanagaite-Smirin-Yosef syndrome
Bathing suit ichthyosis
Becker muscular dystrophy
Becker nevus syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to NSD1 mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Behavioral variant of frontotemporal dementia
Behçet disease
Benign Samaritan congenital myopathy
Benign adult familial myoclonic epilepsy
Benign concentric annular macular dystrophy
Benign familial hematuria
Benign familial infantile epilepsy
Benign familial mesial temporal lobe epilepsy
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Benign hereditary chorea
Benign paroxysmal torticollis of infancy
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Berger disease
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
Beta-thalassemia intermedia
Beta-thalassemia major
Beta-thalassemia-X-linked thrombocytopenia syndrome
Beta-ureidopropionase deficiency
Bethlem myopathy
Bietti crystalline dystrophy
Bifid uvula
Bifunctional enzyme deficiency
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral microtia-deafness-cleft palate syndrome
Bilateral multicystic dysplastic kidney
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bilateral striopallidodentate calcinosis
Bile acid CoA ligase deficiency and defective amidation
Bile acid synthesis defect, congenital, 5
Bile acid synthesis defect, congenital, 6
Biliary atresia with splenic malformation syndrome
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Birbeck granule deficiency
Birdshot chorioretinopathy
Birt-Hogg-Dubé syndrome
Björnstad syndrome
Blackfan-Diamond anemia
Bladder exstrophy
Blau syndrome
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to thromboxane synthesis deficiency
Bleeding disorder due to CalDAG-GEFI deficiency
Bleeding disorder due to P2Y12 defect
Bleeding disorder in hemophilia A carriers
Bleeding disorder in hemophilia B carriers
Blepharo-cheilo-odontic syndrome
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Ohdo type
Blepharophimosis-intellectual disability syndrome, SBBYS type
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Blomstrand lethal chondrodysplasia
Bloom syndrome
Blue cone monochromatism
Blue rubber bleb nevus
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Bohring-Opitz syndrome
Bombay phenotype
Bone mineral density QTL 15
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Bothnia retinal dystrophy
Bowen-Conradi syndrome
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Brachydactyly-syndactyly, Zhao type
Brachyolmia-amelogenesis imperfecta syndrome
Brachytelephalangic chondrodysplasia punctata
Bradyopsia
Brain calcification, Rajab type
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 diffuse cutaneous mastocytosis
Bullous pemphigoid
Burkitt lymphoma
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
Butterfly-shaped pigment dystrophy
Butyrylcholinesterase deficiency
C syndrome
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
C1q deficiency
C3 glomerulonephritis
CAD-CDG
CADDS
CADINS disease
CAMOS syndrome
CCDC115-CDG
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
CDKL5-deficiency disorder
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
CEDNIK syndrome
CHAND syndrome
CHARGE syndrome
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
CHILD syndrome
CHIME syndrome
CHST3-related skeletal dysplasia
CIDEC-related familial partial lipodystrophy
CINCA syndrome
CK syndrome
CLCN4-related X-linked intellectual disability syndrome
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
CLN1 disease
CLN10 disease
CLN11 disease
CLN13 disease
CLN2 disease
CLN3 disease
CLN4A disease
CLN4B disease
CLN5 disease
CLN6 disease
CLN7 disease
CLOVES syndrome
CNTNAP2-related developmental and epileptic encephalopathy
COASY protein-associated neurodegeneration
CODAS syndrome
COFS syndrome
COG1-CDG
COG2-CDG
COG4-CDG
COG5-CDG
COG6-CGD
COG7-CDG
COG8-CDG
COL4A1-related familial vascular leukoencephalopathy
CPE-related Prader-Willi-like syndrome
CTCF-related neurodevelopmental disorder
Caffey disease
Calpain-3-related limb-girdle muscular dystrophy D4
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
Carboxypeptidase N deficiency
Carcinoid syndrome
Cardiac arrhythmia, ankyrin-b-related
Cardiac-valvular Ehlers-Danlos syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy, dilated, 1a
Cardiomyopathy, dilated, 1e
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Cardiospondylocarpofacial syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney complex-trismus-pseudocamptodactyly syndrome
Carney-Stratakis syndrome
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine-acylcarnitine translocase deficiency
Caroli disease
Carpenter syndrome
Cartilage-hair hypoplasia
Carvajal syndrome
Cataract 18
Cataract 35
Cataract 36
Cataract 4, multiple types
Cataract-glaucoma syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Catecholaminergic polymorphic ventricular tachycardia
Catel-Manzke syndrome
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Caudal regression syndrome
Celiac disease
Cenani-Lenz syndrome
Central areolar choroidal dystrophy
Central core disease
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia, Cayman type
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebellar-facial-dental syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Cerebral sinovenous thrombosis
Cerebrocostomandibular syndrome
Cerebrofacioarticular syndrome
Cerebrofaciothoracic dysplasia
Cerebrotendinous xanthomatosis
Cernunnos-XLF deficiency
Cerulean cataract
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Char syndrome
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 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2S
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
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 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Cherubism
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood-onset Steinert myotonic dystrophy
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset benign chorea with striatal involvement
Childhood-onset hypophosphatasia
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Childhood-onset nemaline myopathy
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Childhood-onset spasticity with hyperglycinemia
Chitotriosidase deficiency
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Cholangiocarcinoma
Cholesterol-ester transfer protein deficiency
Cholesteryl ester storage disease
Chondrocalcinosis 1
Chondrodysplasia with joint dislocations, gPAPP type
Chondrodysplasia-disorder of sex development syndrome
Chondromyxoid fibroma
Chondrosarcoma
Chordoma
Chorea, childhood-onset, with psychomotor retardation
Choreoacanthocytosis
Choroid plexus carcinoma
Choroideremia
Christianson syndrome
Chromophobe renal cell carcinoma
Chronic atrial and intestinal dysrhythmia syndrome
Chronic beryllium disease
Chronic enteropathy associated with SLCO2A1 gene
Chronic eosinophilic leukemia
Chronic granulomatous disease
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Chronic lymphoproliferative disorder of natural killer cells
Chronic mast cell leukemia
Chronic mucocutaneous candidiasis
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic myeloproliferative disease, unclassifiable
Chronic neutrophilic leukemia
Chronic respiratory distress with surfactant metabolism deficiency
Chronic visceral acid sphingomyelinase deficiency
Chudley-McCullough syndrome
Chuvash erythrocytosis
Chylomicron retention disease
Chédiak-Higashi syndrome
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Citrullinemia type II
Class I glucose-6-phosphate dehydrogenase deficiency
Classic Hodgkin lymphoma, nodular sclerosis type
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Classic galactosemia
Classic glucose transporter type 1 deficiency syndrome
Classic hairy cell leukemia
Classic homocystinuria
Classic maple syrup urine disease
Classic multiminicore myopathy
Classic mycosis fungoides
Classic pantothenate kinase-associated neurodegeneration
Classic phenylketonuria
Classic progressive supranuclear palsy syndrome
Classical Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 1
Classical-like Ehlers-Danlos syndrome type 2
Clear cell papillary renal cell carcinoma
Clear cell sarcoma of kidney
Cleft hard palate
Cleft lip and alveolus
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Cleft lip/palate
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft velum
Cleidocranial dysplasia
Coats disease
Coats plus syndrome
Cobblestone lissencephaly without muscular or ocular involvement
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Coenzyme Q10 deficiency, primary, 8
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 choroid and retina
Coloboma of eye lens
Coloboma of eyelid
Coloboma of iris
Coloboma of macula
Coloboma of optic disc
Colobomatous macrophthalmia-microcornea syndrome
Colobomatous microphthalmia
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Combined deficiency of factor V and factor VIII
Combined immunodeficiency due to CARMIL2 deficiency
Combined immunodeficiency due to CD27 deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to IL21R deficiency
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with faciooculoskeletal anomalies
Combined immunodeficiency with granulomatosis
Combined immunodeficiency-enteropathy spectrum
Combined malonic and methylmalonic acidemia
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 39
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency 20
Combined pituitary hormone deficiencies, genetic forms
Common variable immunodeficiency
Complement component 2 deficiency
Complement component 3 deficiency
Complement component 5 deficiency
Complement component 8 deficiency, type i
Complement component 8 deficiency, type ii
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Complete androgen insensitivity syndrome
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect without ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Complete cryptophthalmia
Complete hydatidiform mole
Complex lethal osteochondrodysplasia
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 anomalies of kidney and urinary tract 2
Congenital atransferrinemia
Congenital autosomal recessive small-platelet thrombocytopenia
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 3
Congenital bile acid synthesis defect type 4
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital cataract microcornea with corneal opacity
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital central hypoventilation syndrome
Congenital cerebellar ataxia due to RNU12 mutation
Congenital chloride diarrhea
Congenital chronic diarrhea with protein-losing enteropathy
Congenital communicating hydrocephalus
Congenital contractural arachnodactyly
Congenital cornea plana
Congenital deficiency in alpha-fetoprotein
Congenital diaphragmatic hernia
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type IV
Congenital enteropathy due to enteropeptidase deficiency
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 hypercontractile muscle stiffness syndrome
Congenital generalized lipodystrophy
Congenital glaucoma
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital hereditary endothelial dystrophy type I
Congenital hereditary endothelial dystrophy type II
Congenital hereditary facial paralysis-variable hearing loss syndrome
Congenital high-molecular-weight kininogen deficiency
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital insensitivity to pain with severe intellectual disability
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Congenital intrauterine infection-like syndrome
Congenital intrinsic factor deficiency
Congenital isolated ACTH deficiency
Congenital isolated thyroxine-binding globulin deficiency
Congenital lactase deficiency
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lethal myopathy, Compton-North type
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Congenital mesoblastic nephroma
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy, Ullrich type
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy with excess of thin filaments
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital myopathy with reduced type 2 muscle fibers
Congenital myopathy, Paradas type
Congenital nephrotic syndrome, Finnish type
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital non-bullous ichthyosiform erythroderma
Congenital non-communicating hydrocephalus
Congenital or early infantile CACH syndrome
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital primary lymphedema of Gordon
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital ptosis
Congenital reticular ichthyosiform erythroderma
Congenital short bowel syndrome
Congenital sialidosis type 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital sodium diarrhea
Congenital stationary night blindness
Congenital stromal corneal dystrophy
Congenital sucrase-isomaltase deficiency
Congenital thrombotic thrombocytopenic purpura
Congenital tufting enteropathy
Congenital vertebral-cardiac-renal anomalies syndrome
Congenital vertical talus, bilateral
Congenital vertical talus, unilateral
Congenital-onset Steinert myotonic dystrophy
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Congenitally uncorrected transposition of the great arteries with coarctation
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Continuous spikes and waves during sleep
Coralliform cataract
Corneal dystrophy, lattice type iiia
Corneal dystrophy-perceptive deafness syndrome
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis 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
Cortical dysplasia, complex, with other brain malformations 2
Cortical dysplasia, complex, with other brain malformations 3
Cortical dysplasia, complex, with other brain malformations 5
Corticosteroid-binding globulin deficiency
Costello syndrome
Cowden syndrome
Coxopodopatellar syndrome
Cramp-fasciculation syndrome
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Cranio-osteoarthropathy
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia, autosomal dominant
Cranioectodermal dysplasia
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Craniofacial-deafness-hand syndrome
Craniofrontonasal dysplasia
Craniolenticulosutural dysplasia
Craniometaphyseal dysplasia
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive
Craniopharyngioma
Craniorachischisis
Craniosynostosis, Boston type
Craniosynostosis-dental anomalies
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Cree leukoencephalopathy
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crisponi syndrome
Crohn disease
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cryptogenic multifocal ulcerous stenosing enteritis
Currarino syndrome
Curry-Jones syndrome
Cushing disease
Cushing syndrome due to macronodular adrenal hyperplasia
Cutaneous mastocytoma
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Cutis marmorata telangiectatica congenita
Cyclic neutropenia
Cystathioninuria
Cystic fibrosis
Cystic leukoencephalopathy without megalencephaly
Cystinuria type A
Cystinuria type B
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
D-glyceric aciduria
DDOST-CDG
DDX41-related hematologic malignancy predisposition syndrome
DEND syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
DICER1 tumor-predisposition syndrome
DK1-CDG
DNA2-related mitochondrial DNA deletion syndrome
DNAJB2-related Charcot-Marie-Tooth disease type 2
DNAJB6-related limb-girdle muscular dystrophy D1
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
DOCK2 deficiency
DOORS syndrome
DPAGT1-CDG
DPM1-CDG
DPM3-CDG
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Darier disease
De novo thrombotic microangiopathy after kidney transplantation
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-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Dedifferentiated liposarcoma
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Dehydrated hereditary stomatocytosis
Dejerine-Sottas syndrome
Deletion 5q35
Delta-beta-thalassemia
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Dementia with Lewy body
Dense deposit disease
Dent disease type 1
Dent disease type 2
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
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
Desmoid tumor
Desmoplastic small round cell tumor
Desmoplastic/nodular medulloblastoma
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 and speech delay due to SOX5 deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay with autism spectrum disorder and gait instability
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Developmental malformations-deafness-dystonia syndrome
Diabetes mellitus type 1
Diamond-blackfan anemia 2
Diamond-blackfan anemia 3
Diaphanospondylodysostosis
Diaphragmatic hernia-short bowel-asplenia syndrome
Diaphyseal medullary stenosis-bone malignancy syndrome
Diastrophic dysplasia
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Dicarboxylic aminoaciduria
Diencephalic-mesencephalic junction dysplasia
Differentiated thyroid carcinoma
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Diffuse cutaneous systemic sclerosis
Diffuse palmoplantar keratoderma with painful fissures
Diffuse panbronchiolitis
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dimethylglycine dehydrogenase deficiency
Disseminated superficial actinic porokeratosis
Distal 16p11.2 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal anoctaminopathy
Distal arthrogryposis type 1
Distal arthrogryposis type 5D
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy, Jerash type
Distal monosomy 12p
Distal monosomy 15q
Distal monosomy 1q
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Tateyama type
Distal myopathy, Welander type
Distal myotilinopathy
Distal nebulin myopathy
Distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Dominant beta-thalassemia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Donnai-Barrow syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopamine beta-hydroxylase deficiency
Dowling-Degos disease
Dravet syndrome
Drug- or toxin-induced pulmonary arterial hypertension
Duane retraction syndrome
Duane retraction syndrome with congenital deafness
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
Dysspondyloenchondromatosis
Dystonia 16
Dystonia 28
Dystonia-parkinsonism-hypermanganesemia syndrome
Dystrophic epidermolysis bullosa pruriginosa
EAST syndrome
EDICT syndrome
EEC syndrome
EEM syndrome
EGF-related primary hypomagnesemia with intellectual disability
EMILIN-1-related connective tissue disease
EVEN-plus syndrome
Ear-patella-short stature syndrome
Early infantile epileptic encephalopathy
Early myoclonic encephalopathy
Early-onset Lafora body disease
Early-onset X-linked optic atrophy
Early-onset anterior polar cataract
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Early-onset autosomal dominant Alzheimer disease
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Early-onset familial hypoaldosteronism
Early-onset generalized limb-onset dystonia
Early-onset lamellar cataract
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset nuclear cataract
Early-onset parkinsonism-intellectual disability syndrome
Early-onset posterior polar cataract
Early-onset posterior subcapsular cataract
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Early-onset sutural cataract
East Texas bleeding disorder
Ebstein malformation of the tricuspid valve
Ectodermal dysplasia 13, hair/tooth type
Ectodermal dysplasia-skin fragility syndrome
Ectodermal dysplasia-syndactyly syndrome
Ectopia lentis 2, isolated, autosomal recessive
Efavirenz, poor metabolism of
Ehlers-Danlos/osteogenesis imperfecta syndrome
Eiken syndrome
Ellis Van Creveld syndrome
Embryonal rhabdomyosarcoma
Emery-dreifuss muscular dystrophy 2, autosomal dominant
Enamel-renal syndrome
Encephalocraniocutaneous lipomatosis
Encephalopathy due to prosaposin deficiency
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Endocrine-cerebro-osteodysplasia syndrome
Endometrial stromal sarcoma
Endosteal hyperostosis, Worth type
Endosteal sclerosis-cerebellar hypoplasia syndrome
Enlarged parietal foramina
Enteric anendocrinosis
Ependymoma
Epidermodysplasia verruciformis
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolytic palmoplantar keratoderma
Epilepsy with myoclonic absences
Epilepsy, familial temporal lobe, 8
Epileptic encephalopathy with global cerebral demyelination
Epileptic encephalopathy, early infantile, 45
Epileptic encephalopathy, early infantile, 49
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 6
Episodic ataxia type 1
Episodic ataxia type 5
Episodic ataxia type 6
Epithelial basement membrane dystrophy
Epithelial recurrent erosion dystrophy
Epithelioid hemangioendothelioma
Erythrocyte galactose epimerase deficiency
Erythrokeratodermia variabilis
Erythrokeratodermia-cardiomyopathy syndrome
Essential fructosuria
Essential hypertension
Essential thrombocythemia
Estrogen resistance syndrome
Ethylmalonic encephalopathy
Euthyroid dysprealbuminemic hyperthyroxinemia
Exercise-induced hyperinsulinism
Exercise-induced malignant hyperthermia
Exfoliation syndrome
Exfoliative ichthyosis
Exostoses, multiple, type i
Exostoses, multiple, type ii
Exostoses, multiple, type iii
External auditory canal aplasia/hypoplasia
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Eye defects-arachnodactyly-cardiopathy syndrome
F12-associated cold autoinflammatory syndrome
F12-related hereditary angioedema with normal C1Inh
FADD-related immunodeficiency
FASTKD2-related infantile mitochondrial encephalomyopathy
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
FG syndrome phenotypic spectrum
FG syndrome type 1
FGFR2-related bent bone dysplasia
FKRP-related limb-girdle muscular dystrophy R9
FLNA-related X-linked myxomatous valvular dysplasia
FOXG1 syndrome due to 14q12 microdeletion
FRAXE intellectual disability
FRAXF syndrome
FTH1-related iron overload
Fabry disease
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Facioscapulohumeral dystrophy
Familial Alzheimer-like prion disease
Familial Chilblain lupus
Familial GPIHBP1 deficiency
Familial LCAT deficiency
Familial Mediterranean fever
Familial abdominal aortic aneurysm
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
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 atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Familial atypical multiple mole melanoma syndrome
Familial avascular necrosis of femoral head
Familial benign chronic pemphigus
Familial benign flecked retina
Familial bicuspid aortic valve
Familial calcium pyrophosphate deposition
Familial cavitary optic disc anomaly
Familial cerebral cavernous malformation
Familial cerebral saccular aneurysm
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Familial cold urticaria
Familial colorectal cancer Type X
Familial congenital mirror movements
Familial congenital nasolacrimal duct obstruction
Familial cortical myoclonus
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Familial cylindromatosis
Familial digital arthropathy-brachydactyly
Familial drusen
Familial dysalbuminemic hyperthyroxinemia
Familial dysautonomia
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial expansile osteolysis
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial gastric type 1 neuroendocrine tumor
Familial generalized lentiginosis
Familial gestational hyperthyroidism
Familial glucocorticoid deficiency
Familial hemophagocytic lymphohistiocytosis
Familial hyperaldosteronism type I
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hypercholanemia
Familial hyperinflammatory lymphoproliferative immunodeficiency
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial hyperprolactinemia
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial infantile bilateral striatal necrosis
Familial infantile myoclonic epilepsy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial isolated hypertrophic cardiomyopathy
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial isolated pituitary adenoma
Familial isolated restrictive cardiomyopathy
Familial isolated trichomegaly
Familial lipase maturation factor 1 deficiency
Familial lipoprotein lipase deficiency
Familial male-limited precocious puberty
Familial medullary thyroid carcinoma
Familial melanoma
Familial mesial temporal lobe epilepsy with febrile seizures
Familial mitral valve prolapse
Familial multinodular goiter
Familial multiple meningioma
Familial multiple nevi flammei
Familial multiple trichoepithelioma
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 patent arterial duct
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial porphyria cutanea tarda
Familial primary localized cutaneous amyloidosis
Familial progressive cardiac conduction defect
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Familial prostate cancer
Familial pseudohyperkalemia
Familial renal glucosuria
Familial retinal arterial macroaneurysm
Familial rhabdoid tumor
Familial scaphocephaly syndrome, McGillivray type
Familial schizencephaly
Familial short QT syndrome
Familial sick sinus syndrome
Familial spontaneous pneumothorax
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial thoracic aortic aneurysm and aortic dissection
Familial thrombocytosis
Familial thyroid dyshormonogenesis
Familial vesicoureteral reflux
Familial visceral myopathy
Fanconi anemia
Fanconi-Bickel syndrome
Farber disease
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fatal familial insomnia
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile hypertonic myofibrillar myopathy
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fatal post-viral neurodegenerative disorder
Fatty acid hydroxylase-associated neurodegeneration
Fatty acyl-CoA reductase 1 deficiency
Feingold syndrome type 1
Feingold syndrome type 2
Female infertility due to oocyte meiotic arrest
Female infertility due to zona pellucida defect
Female restricted epilepsy with intellectual disability
Ferro-cerebro-cutaneous syndrome
Fetal Gaucher disease
Fetal akinesia deformation sequence
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal encasement syndrome
Fibrillary astrocytoma
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrolamellar hepatocellular carcinoma
Fibromatosis, gingival, 1
Fibromatosis, gingival, 2
Fibromatosis, gingival, 3
Fibromatosis, gingival, 4
Fibrosarcoma
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Fibular aplasia-complex brachydactyly syndrome
Filippi syndrome
Fish-eye disease
Fleck corneal dystrophy
Floating-Harbor syndrome
Focal dermal hypoplasia
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Focal facial dermal dysplasia type III
Focal facial dermal dysplasia type IV
Focal palmoplantar keratoderma with joint keratoses
Follicular lymphoma
Formiminoglutamic aciduria
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Foveal hypoplasia-presenile cataract syndrome
Fowler vasculopathy
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
Free sialic acid storage disease, infantile form
Freeman-Sheldon syndrome
Friedreich ataxia
Frontometaphyseal dysplasia
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontorhiny
Frontotemporal dementia with motor neuron disease
Fructose-1,6-bisphosphatase deficiency
Fryns syndrome
Fuchs endothelial corneal dystrophy
Fucosidosis
Fucosyltransferase 6 deficiency
Fuhrmann syndrome
Fukutin-related limb-girdle muscular dystrophy R13
Full NF2-related schwannomatosis
Full schwannomatosis
Fumaric aciduria
Fundus albipunctatus
GAPO syndrome
GCGR-related hyperglucagonemia
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM2 gangliosidosis, AB variant
GM3 synthase deficiency
GMPPB-related limb-girdle muscular dystrophy R19
GNAO1-related developmental delay-seizures-movement disorder spectrum
GNB5-related intellectual disability-cardiac arrhythmia syndrome
GNE myopathy
GRACILE syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
GTP cyclohydrolase I deficiency
Gabriele-de Vries syndrome
Galactokinase deficiency
Galactose mutarotase deficiency
Galactosialidosis
Galloway-Mowat syndrome
Gamma-aminobutyric acid transaminase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Gardner syndrome
Gastric adenocarcinoma and proximal polyposis of the stomach
Gastrointestinal stromal tumor
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gelatinous drop-like corneal dystrophy
Geleophysic dysplasia
Gemistocytic astrocytoma
Generalized arterial calcification of infancy
Generalized epilepsy with febrile seizures-plus
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized galactose epimerase deficiency
Generalized glucocorticoid resistance syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Generalized pseudohypoaldosteronism type 1
Generalized pustular psoriasis
Genetic hyperferritinemia without iron overload
Genetic recurrent myoglobinuria
Genetic steroid-resistant nephrotic syndrome
Genetic transient congenital hypothyroidism
Genitopatellar syndrome
Germinoma of the central nervous system
Geroderma osteodysplastica
Gerstmann-Straussler-Scheinker syndrome
Ghosal hematodiaphyseal dysplasia
Giant axonal neuropathy
Giant cell arteritis
Giant cell glioblastoma
Gilbert syndrome
Gingival fibromatosis-hypertrichosis syndrome
Gitelman syndrome
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
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
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glomuvenous malformation
Glucose-6-phosphate-dehydrogenase deficiency
Glucose-galactose malabsorption
Glutamate-cysteine ligase deficiency
Glutaric acidemia type 3
Glutaryl-CoA dehydrogenase deficiency
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycerol kinase deficiency, adult form
Glycerol kinase deficiency, juvenile form
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
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 branching enzyme deficiency, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
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 and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to liver phosphorylase kinase 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
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glyoxalase II 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
Grange 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 and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-intellectual disability-hepatopathy syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Guanidinoacetate methyltransferase deficiency
Guttmacher syndrome
Gynandroblastoma
Gyrate atrophy of choroid and retina
H syndrome
HANAC syndrome
HELLP syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
HNRNPDL-related limb-girdle muscular dystrophy D3
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
HTRA1-related autosomal dominant cerebral small vessel disease
Haim-Munk syndrome
Hairy cell leukemia variant
Hajdu-Cheney syndrome
Hamel cerebro-palato-cardiac syndrome
Hand-foot-genital syndrome
Harlequin ichthyosis
Hartnup disease
Hartsfield syndrome
Hawkinsinuria
Hb Bart's hydrops fetalis
Heart and brain malformation syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart-hand syndrome, Slovenian type
Helicoid peripapillary chorioretinal degeneration
Heme oxygenase-1 deficiency
Hemihyperplasia-multiple lipomatosis syndrome
Hemimegalencephaly
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin C-beta-thalassemia syndrome
Hemoglobin D disease
Hemoglobin E disease
Hemoglobin E-beta-thalassemia syndrome
Hemoglobin H disease
Hemoglobin Lepore-beta-thalassemia syndrome
Hemoglobin M disease
Hemoglobinopathy Toms River
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hemolytic uremic syndrome with DGKE deficiency
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hennekam syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatoerythropoietic porphyria
Hereditary North American Indian childhood cirrhosis
Hereditary angioedema type 1
Hereditary angioedema type 2
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Hereditary arterial and articular multiple calcification syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary central diabetes insipidus
Hereditary chronic pancreatitis
Hereditary clear cell renal cell carcinoma
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary cryohydrocytosis with normal stomatin
Hereditary cryohydrocytosis with reduced stomatin
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary elliptocytosis
Hereditary essential tremor
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary gingival fibromatosis
Hereditary hemorrhagic telangiectasia
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hyperekplexia
Hereditary hyperferritinemia-cataract syndrome
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary isolated aplastic anemia
Hereditary late-onset Parkinson disease
Hereditary leiomyomatosis and renal cell cancer
Hereditary methemoglobinemia
Hereditary mixed polyposis syndrome
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neuroendocrine tumor of small intestine
Hereditary neuropathy with liability to pressure palsies
Hereditary neutrophilia
Hereditary orotic aciduria
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Hereditary papillary renal cell carcinoma
Hereditary pediatric Behçet-like disease
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary pheochromocytoma-paraganglioma
Hereditary pulmonary alveolar proteinosis
Hereditary renal hypouricemia
Hereditary retinoblastoma
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 6
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 8
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary site-specific ovarian cancer syndrome
Hereditary spherocytosis
Hereditary thrombocytopenia with early-onset myelofibrosis
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Heritable pulmonary arterial hypertension
Hermansky-Pudlak syndrome due to AP-3 deficiency
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Hermansky-pudlak syndrome 2
Herpes simplex virus encephalitis
Heterozygous familial hypercholesterolemia
Hidradenitis suppurativa
Hidrotic ectodermal dysplasia
High bone mass osteogenesis imperfecta
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
High myopia-sensorineural deafness syndrome
Hip dysplasia, Beukes type
Hirschsprung disease
Hirschsprung disease-ganglioneuroblastoma syndrome
Histidinemia
Histiocytoid cardiomyopathy
Holocarboxylase synthetase deficiency
Holt-Oram syndrome
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homozygous familial hypercholesterolemia
Horizontal gaze palsy with progressive scoliosis
Hot water reflex epilepsy
Hoyeraal-Hreidarsson syndrome
Huntington disease
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like syndrome due to C9ORF72 expansions
Huriez syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
Hyaline body myopathy
Hyaluronidase deficiency
Hydranencephaly
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrolethalus
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
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
Hyperbiliverdinemia
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia, familial, 2
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperekplexia-epilepsy syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to UCP2 deficiency
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
Hyperlipoproteinemia type 4
Hyperlysinemia
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis corticalis generalisata
Hyperparathyroidism-jaw tumor syndrome
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphosphatasia-intellectual disability syndrome
Hyperprolinemia type 1
Hyperprolinemia type 2
Hypersensitivity pneumonitis
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Hypertryptophanemia
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hyperuricemic nephropathy, familial juvenile, 4
Hyperzincemia and hypercalprotectinemia
Hypobetalipoproteinemia, familial, 1
Hypocalcemic vitamin D-dependent rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcified amelogenesis imperfecta
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodontia
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
Hypohaptoglobinemia
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalemic periodic paralysis
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination neuropathy-arthrogryposis syndrome
Hypomyelination of early myelinating structures
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Hypomyelination-congenital cataract syndrome
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
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Hypothyroidism due to TSH receptor mutations
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Hypotonia with lactic acidemia and hyperammonemia
Hypotonia, ataxia, and delayed development syndrome
Hypotonia-cystinuria syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotrichosis 7
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypotrichosis with juvenile macular degeneration
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
ICF syndrome
IL21-related infantile inflammatory bowel disease
IMAGe syndrome
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
IRIDA syndrome
ISPD-related limb-girdle muscular dystrophy R20
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
IVIC syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis hystrix of Curth-Macklin
Ichthyosis, congenital, autosomal recessive 1
Ichthyosis, congenital, autosomal recessive 12
Ichthyosis, congenital, autosomal recessive 4a
Ichthyosis, congenital, autosomal recessive 5
Ichthyosis-hypotrichosis syndrome
Ichthyosis-prematurity syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Idiopathic CD4 lymphocytopenia
Idiopathic achalasia
Idiopathic aplastic anemia
Idiopathic bronchiectasis
Idiopathic central precocious puberty
Idiopathic hypercalciuria
Idiopathic infantile nystagmus
Idiopathic juvenile osteoporosis
Idiopathic pulmonary fibrosis
Idiopathic ventricular fibrillation, non Brugada type
Imerslund-Gräsbeck syndrome
Iminoglycinuria
Immune deficiency due to impaired neutrophil phagocytosis and migration
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune thrombocytopenia
Immunodeficiency 47
Immunodeficiency 49
Immunodeficiency 61
Immunodeficiency by defective expression of MHC class I
Immunodeficiency by defective expression of MHC class II
Immunodeficiency due to CD25 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
Immunodeficiency due to ficolin3 deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency with factor H anomaly
Immunodeficiency with factor I anomaly
Immunoglobulin A deficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Infant acute respiratory distress syndrome
Infantile Krabbe disease
Infantile Refsum disease
Infantile capillary hemangioma
Infantile cerebellar-retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile convulsions and choreoathetosis
Infantile dystonia-parkinsonism
Infantile epileptic-dyskinetic encephalopathy
Infantile glycine encephalopathy
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypophosphatasia
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Infantile inflammatory bowel disease with neurological involvement
Infantile liver failure syndrome 2
Infantile multisystem neurologic-endocrine-pancreatic disease
Infantile myofibromatosis
Infantile nephronophthisis
Infantile nephropathic cystinosis
Infantile neuroaxonal dystrophy
Infantile neurovisceral acid sphingomyelinase deficiency
Infantile osteopetrosis with neuroaxonal dysplasia
Infantile spasms syndrome
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Infantile systemic hyalinosis
Infantile-onset X-linked spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset generalized dyskinesia with orofacial involvement
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Infantile-onset spinocerebellar ataxia
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Inflammatory myofibroblastic tumor
Inherited Creutzfeldt-Jakob disease
Inherited acute myeloid leukemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Inherited congenital spastic tetraplegia
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Insulin-resistance syndrome type A
Insulinoma
Intellectual developmental disorder with dysmorphic facies and ptosis
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 syndrome due to a DYRK1A point mutation
Intellectual disability, Birk-Barel type
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-early-onset cataract-microcephaly syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intellectual disability-hypotonic facies syndrome, x-linked, 1
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-strabismus syndrome
Intermediate DEND syndrome
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Intermediate generalized junctional epidermolysis bullosa
Intermediate maple syrup urine disease
Intermediate nemaline myopathy
Intermediate osteopetrosis
Intermediate severe Salla disease
Intermittent hydrarthrosis
Intermittent maple syrup urine disease
Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
Intrahepatic cholestasis of pregnancy
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intravascular large B-cell lymphoma
Ischiovertebral syndrome
Isobutyryl-CoA dehydrogenase deficiency
Isolated ATP synthase deficiency
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated Klippel-Feil syndrome
Isolated Pierre Robin syndrome
Isolated anencephaly
Isolated aniridia
Isolated asymptomatic elevation of creatine phosphokinase
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Isolated bone marrow mastocytosis
Isolated childhood apraxia of speech
Isolated cleft lip
Isolated complex I deficiency
Isolated complex III deficiency
Isolated congenital adermatoglyphia
Isolated congenital anosmia
Isolated congenital breast hypoplasia/aplasia
Isolated congenital digital clubbing
Isolated congenital megalocornea
Isolated congenital sclerocornea
Isolated congenitally uncorrected transposition of the great arteries
Isolated cytochrome C oxidase deficiency
Isolated delta-storage pool disease
Isolated ectopia lentis
Isolated exencephaly
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated focal cortical dysplasia type Ia
Isolated focal non-epidermolytic palmoplantar keratoderma
Isolated follicle stimulating hormone deficiency
Isolated generalized anhidrosis with normal sweat glands
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated hemihyperplasia
Isolated hyperchlorhidrosis
Isolated keratoconus
Isolated megalencephaly
Isolated neonatal sclerosing cholangitis
Isolated optic nerve hypoplasia/aplasia
Isolated osteopoikilosis
Isolated permanent neonatal diabetes mellitus
Isolated polycystic liver disease
Isolated sedoheptulokinase deficiency
Isolated split hand-split foot malformation
Isolated succinate-CoQ reductase deficiency
Isolated sulfite oxidase deficiency
Isolated thyroid-stimulating hormone deficiency
Isolated thyrotropin-releasing hormone deficiency
Isovaleric acidemia
Jackson-Weiss syndrome
Jacobsen syndrome
Jalili syndrome
Jawad syndrome
Jervell and Lange-Nielsen syndrome
Jeune syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Joubert syndrome 2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juberg-Hayward syndrome
Junctional epidermolysis bullosa with pyloric atresia
Junior blood group system
Juvenile Huntington disease
Juvenile Paget disease
Juvenile absence epilepsy
Juvenile amyotrophic lateral sclerosis
Juvenile cataract-microcornea-renal glucosuria syndrome
Juvenile glaucoma
Juvenile hyaline fibromatosis
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile nephronophthisis
Juvenile nephropathic cystinosis
Juvenile or adult CACH syndrome
Juvenile polyposis of infancy
Juvenile primary lateral sclerosis
Juvenile sialidosis type 2
Juvenile-onset Steinert myotonic dystrophy
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
KBG syndrome
KCNQ2-related epileptic encephalopathy
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
KDM5C-related syndromic X-linked intellectual disability
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
KID syndrome
KLHL7-related Bohring-Opitz-like syndrome
KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome
KLHL7-related cold-induced sweating-like syndrome
KLHL9-related early-onset distal myopathy
KRT1-related diffuse nonepidermolytic keratoderma
Kabuki syndrome
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Kallikrein, decreased urinary activity of
Kallmann syndrome
Kaposiform hemangioendothelioma
Karyomegalic interstitial nephritis
Kearns-Sayre syndrome
Keipert syndrome
Kennedy disease
Keppen-Lubinsky syndrome
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
Keratoderma hereditarium mutilans
Keratoderma hereditarium mutilans with ichthyosis
Keratolytic winter erythema
Keratosis follicularis spinulosa decalvans
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Keratosis palmoplantaris striata iii
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Keutel syndrome
Kindler epidermolysis bullosa
King-Denborough syndrome
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Kleine-Levin syndrome
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-Trénaunay syndrome
Kniest dysplasia
Knobloch syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Koolen-De Vries syndrome due to a point mutation
Kosaki overgrowth syndrome
Kostmann syndrome
Kufor-Rakeb syndrome
Kuru
Kuskokwim syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
L-2-hydroxyglutaric aciduria
L-Arginine:glycine amidinotransferase deficiency
L-ferritin deficiency
LAMA5-related multisystemic syndrome
LIG4 syndrome
LIMS2-related limb-girdle muscular dystrophy
LIPE-related familial partial lipodystrophy
LMNA-related cardiocutaneous progeria syndrome
LRP5-related primary osteoporosis
Lacrimoauriculodentodigital syndrome
Lactase non-persistence in adulthood
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
Laron syndrome with immunodeficiency
Larsen syndrome
Larsen-like syndrome, B3GAT3 type
Laryngo-onycho-cutaneous syndrome
Late infantile CACH syndrome
Late-infantile/juvenile Krabbe disease
Late-onset Steinert myotonic dystrophy
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset junctional epidermolysis bullosa
Late-onset nephronophthisis
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
Leber plus disease
Left ventricular noncompaction
Legg-Calvé-Perthes disease
Legius syndrome
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Lennox-Gastaut syndrome
Lenz-Majewski hyperostotic dwarfism
Leprechaunism
Lesch-Nyhan syndrome
Lethal acantholytic erosive disorder
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Lethal ataxia with deafness and optic atrophy
Lethal brain and heart developmental defects
Lethal congenital contracture syndrome 11
Lethal congenital contracture syndrome 4
Lethal congenital contracture syndrome 6
Lethal congenital contracture syndrome 9
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Lethal infantile mitochondrial myopathy
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Lethal multiple pterygium syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome, Boissel type
Letrozole toxicity
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type II
Leukocyte adhesion deficiency type III
Leukodystrophy and acquired microcephaly with or without dystonia
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
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
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Liddle syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Limb-mammary syndrome
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
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
Lipoprotein glomerulopathy
Lipoyl transferase 1 deficiency
Lipoyl transferase 2 deficiency
Lissencephaly 7 with cerebellar hypoplasia
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 1 due to doublecortin gene mutation
Lobar holoprosencephaly
Localized dystrophic epidermolysis bullosa, acral form
Localized dystrophic epidermolysis bullosa, nails only
Localized dystrophic epidermolysis bullosa, pretibial form
Localized epidermolysis bullosa simplex
Localized junctional epidermolysis bullosa
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
Low phospholipid-associated cholelithiasis
Lower motor neuron syndrome with late-adult onset
Lowry-Wood syndrome
Lujan-Fryns syndrome
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Lung disease, immunodeficiency, and chromosome breakage syndrome
Lymphangioleiomyomatosis
Lymphatic malformation 1
Lymphedema-distichiasis syndrome
Lymphedema-posterior choanal atresia syndrome
Lymphomatoid papulosis
Lynch syndrome
Lysinuric protein intolerance
Lysosomal acid phosphatase deficiency
Léri-Weill dyschondrosteosis
MAGEL2-related Prader-Willi-like syndrome
MALT lymphoma
MAN1B1-CDG
MASA syndrome
MEDNIK syndrome
MEGDEL syndrome
MEHMO syndrome
MELAS
MEND syndrome
MEPAN syndrome
MERRF
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
MGAT2-CDG
MIR140-related spondyloepiphyseal dysplasia
MIRAGE syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
MODY
MOGS-CDG
MORM syndrome
MPDU1-CDG
MPI-CDG
MRCS syndrome
MSH3-related attenuated familial adenomatous polyposis
MT-ATP6-related mitochondrial spastic paraplegia
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
MUC1-related autosomal dominant tubulointerstitial kidney disease
MUTYH-related attenuated familial adenomatous polyposis
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
MYH7-related late-onset scapuloperoneal muscular dystrophy
MYH9-related disease
MYO5B-related progressive familial intrahepatic cholestasis
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-autism syndrome
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrodactyly of fingers, unilateral
Macrodactyly of toes, unilateral
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macular corneal dystrophy
Maffucci syndrome
Majeed syndrome
Mal de Meleda
Malan overgrowth syndrome
Male infertility due to acephalic spermatozoa
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
Male infertility with teratozoospermia due to single gene mutation
Maligant granulosa cell tumor of the ovary
Malignant Sertoli-Leydig cell tumor of the ovary
Malignant hyperthermia of anesthesia
Malignant migrating focal seizures of infancy
Malignant peripheral nerve sheath tumor with perineurial differentiation
Malignant triton tumor
Malonic aciduria
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis with alopecia
Mandibulofacial dysostosis-microcephaly syndrome
Mantle cell lymphoma
Marden-Walker syndrome
Marfan syndrome type 1
Marfan syndrome type 2
Marie Unna hereditary hypotrichosis
Marinesco-Sjögren syndrome
Marshall syndrome
Marshall-Smith syndrome
Martinique crinkled retinal pigment epitheliopathy
Maternal phenylketonuria
Maternal riboflavin deficiency
Maternally-inherited diabetes and deafness
Matthew-Wood syndrome
Mayer-Rokitansky-Küster-Hauser syndrome
Mazabraud 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
Medulloblastoma with extensive nodularity
Meesmann corneal dystrophy
Megaconial congenital muscular dystrophy
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Meige disease
Melanoma
Melanoma and neural system tumor syndrome
Melanoma of soft tissue
Melnick-Needles syndrome
Melorheostosis with osteopoikilosis
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Meningioma
Meningioma, radiation-induced
Menke-Hennekam syndrome
Menkes disease
Menstrual cycle-dependent periodic fever
Mental retardation autosomal recessive 58
Mental retardation, X-linked 100
Mental retardation, X-linked 103
Mental retardation, X-linked 91
Mental retardation, X-linked, syndromic 11, Shashi type
Mesoaxial synostotic syndactyly with phalangeal reduction
Metabolic myopathy due to lactate transporter defect
Metabolic syndrome
Metachondromatosis
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Metaphyseal anadysplasia
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metatropic dysplasia
Methylcobalamin deficiency type cblDv1
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Methylmalonic aciduria due to transcobalamin receptor defect
Metopic ridging-ptosis-facial dysmorphism syndrome
Mevalonic aciduria
MiT family translocation renal cell carcinoma
Micro syndrome
Microcephalic cortical malformations-short stature due to RTTN deficiency
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism, Dauber type
Microcephalic primordial dwarfism-insulin resistance syndrome
Microcephaly-capillary malformation syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-micromelia syndrome
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-short stature-limb abnormalities syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Microcystic stromal tumor
Microcytic anemia with liver iron overload
Microduplication Xp11.22p11.23 syndrome
Microform holoprosencephaly
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Microphthalmia with brain and digit anomalies
Microphthalmia with limb anomalies
Microphthalmia with linear skin defects syndrome
Microphthalmia, Lenz type
Microphthalmia, syndromic 11
Microphthalmia, syndromic 12
Microphthalmia, syndromic 13
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Microtia
Microvillus inclusion disease
Midline interhemispheric variant of holoprosencephaly
Mild Canavan disease
Mild hemophilia A
Mild hemophilia B
Mild hyperphenylalaninemia
Mild phenylketonuria
Mild phosphoribosylpyrophosphate synthetase superactivity
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Miller-Dieker syndrome
Milroy disease
Minimal pigment oculocutaneous albinism type 1
Mirror-image polydactyly
Mismatch repair cancer syndrome 1
Mitchell Syndrome
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
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 DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Mitochondrial DNA-related progressive external ophthalmoplegia
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial membrane protein-associated neurodegeneration
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with lactic acidosis
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial pyruvate carrier deficiency
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Mitochondrial trifunctional protein deficiency
Mitral valve prolapse 1
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Mixed phenotype acute leukemia with t(v;11q23.3)
Miyoshi myopathy
Moderate hemophilia A
Moderate hemophilia B
Moderate multiminicore disease with hand involvement
Moebius syndrome
Mohr-Tranebjaerg syndrome
Monilethrix
Monoamine oxidase A deficiency
Monocytopenia with susceptibility to infections
Monomelic amyotrophy
Monosomy 13q14
Monosomy 22q13.3
Monosomy 5p
Monosomy 9q22.3
Monostotic fibrous dysplasia
Morning glory disc anomaly
Mosaic variegated aneuploidy syndrome
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease
Moyamoya disease with early-onset achalasia
Muckle-Wells syndrome
Mucocutaneous venous malformations
Mucolipidosis type II
Mucolipidosis type III alpha/beta
Mucolipidosis type III gamma
Mucolipidosis type IV
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 4B
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Mucopolysaccharidosis type 7
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Muenke syndrome
Muir-Torre syndrome
Mulibrey nanism
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric osteolysis, nodulosis, and arthropathy
Multicentric osteolysis-nodulosis-arthropathy spectrum
Multifocal pattern dystrophy simulating fundus flavimaculatus
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Multiple acyl-CoA dehydrogenase deficiency, mild type
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
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 endocrine neoplasia type 4
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia, Beighton type
Multiple intestinal atresia
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 3
Multiple mitochondrial dysfunctions syndrome type 4
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
Multiple myeloma
Multiple osteochondromas
Multiple paragangliomas associated with polycythemia
Multiple sclerosis
Multiple self-healing squamous epithelioma
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome
Multiple synostoses syndrome 2
Multiple system atrophy, cerebellar type
Multiple system atrophy, parkinsonian type
Multisystemic smooth muscle dysfunction syndrome
Muscle filaminopathy
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, Selcen type
Musculocontractural Ehlers-Danlos syndrome
Mutilating hereditary sensory neuropathy with spastic paraplegia
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
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloperoxidase deficiency
Myhre syndrome
Myoclonic-astatic epilepsy
Myoclonus-dystonia syndrome
Myopathic Ehlers-Danlos syndrome
Myopathic intestinal pseudoobstruction
Myopathy and diabetes mellitus
Myopathy, myofibrillar, 8
Myopia 21
Myopia 22, autosomal dominant
Myopia 24, autosomal dominant
Myopia 6
Myosclerosis
Myostatin-related muscle hypertrophy
Myotonia fluctuans
Myotonia permanens
Myxofibrosarcoma
Myxoid/round cell liposarcoma
Müllerian aplasia and hyperandrogenism
N-acetylaspartate deficiency
NAD(P)HX dehydratase deficiency
NAD(P)HX epimerase deficiency
NARP syndrome
NDE1-related microhydranencephaly
NEK9-related lethal skeletal dysplasia
NIK deficiency
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
NLRC4-related familial cold autoinflammatory syndrome
NLRP12-associated hereditary periodic fever syndrome
NOR polyagglutination syndrome
NPHP3-related Meckel-like syndrome
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
NTHL1-related attenuated familial adenomatous polyposis
NUT midline carcinoma
Naegeli-Franceschetti-Jadassohn syndrome
Nager syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Nance-Horan syndrome
Nanophthalmos
Narcolepsy type 1
Narcolepsy type 2
Nasopharyngeal carcinoma
Nasu-Hakola disease
Native American myopathy
Navajo neurohepatopathy
Naxos disease
Neonatal Marfan syndrome
Neonatal acute respiratory distress due to SP-B deficiency
Neonatal adrenoleukodystrophy
Neonatal alloimmune neutropenia
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal epileptic encephalopathy due to glutaminase deficiency
Neonatal glycine encephalopathy
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal inflammatory skin and bowel disease
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Neonatal severe primary hyperparathyroidism
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
Nephroblastoma
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Neu-laxova syndrome due to phosphoserine aminotransferase deficiency
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 delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Neuroectodermal melanolysosomal disease
Neuroendocrine tumor of stomach
Neuroferritinopathy
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
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
Neuropathy with hearing impairment
Neutral lipid storage disease with ichthyosis
Neutral lipid storage myopathy
Neutrophil immunodeficiency syndrome
Nevus comedonicus syndrome
Nicolaides-Baraitser syndrome
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Nodular fasciitis
Nodular urticaria pigmentosa
Non rare obesity
Non rare thrombophilia
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired panhypopituitarism
Non-alcoholic fatty liver disease
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-epidermolytic palmoplantar keratoderma
Non-hereditary retinoblastoma
Non-immune hydrops fetalis
Non-progressive cerebellar ataxia with intellectual disability
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Non-seminomatous germ cell tumor of testis
Non-specific early-onset epileptic encephalopathy
Non-specific syndromic intellectual disability
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Non-syndromic bicoronal craniosynostosis
Non-syndromic male infertility due to sperm motility disorder
Non-syndromic metopic craniosynostosis
Non-syndromic non-specific multisutural craniosynostosis
Non-syndromic posterior hypospadias
Non-syndromic sagittal craniosynostosis
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Normosmic congenital hypogonadotropic hypogonadism
Norrie disease
North Carolina macular dystrophy
Null pituitary adenoma
Null syndrome
OKT4 epitope deficiency
Obesity due to CEP19 deficiency
Obesity due to MC3R deficiency
Obesity due to SIM1 deficiency
Obesity due to congenital leptin deficiency
Obesity due to leptin receptor gene deficiency
Obesity due to melanocortin 4 receptor deficiency
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Occipital encephalocele
Occipital horn syndrome
Occipital pachygyria and polymicrogyria
Occult macular dystrophy
Ochoa syndrome
Ocular albinism with late-onset sensorineural deafness
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Ocular cystinosis
Oculoauricular syndrome, Schorderet type
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal syndrome of Lowe
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculocutaneous albinism type 6
Oculocutaneous albinism type 7
Oculocutaneous albinism type 8
Oculodentodigital dysplasia
Oculofaciocardiodental syndrome
Oculogastrointestinal-neurodevelopmental syndrome
Oculootodental syndrome
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Oculoskeletodental syndrome
Oculotrichoanal syndrome
Odonto-onycho-dermal dysplasia
Odontochondrodysplasia
Odontohypophosphatasia
Odontoleukodystrophy
Ogden syndrome
Oguchi disease
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Okur-Chung neurodevelopmental syndrome
Oligoarticular juvenile idiopathic arthritis
Oligoastrocytoma
Oligodendroglioma
Oligodontia
Oligodontia-cancer predisposition syndrome
Ollier disease
Omenn syndrome
Opitz GBBB syndrome
Opsismodysplasia
Optic atrophy 5
Optic atrophy 6
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic atrophy-intellectual disability syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangy
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
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteosclerotic metaphyseal dysplasia
Otodental syndrome
Otofaciocervical syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Otospondylomegaepiphyseal dysplasia
Ovarian hyperstimulation syndrome
Ovarioleukodystrophy
Overgrowth-macrocephaly-facial dysmorphism syndrome
Overhydrated hereditary stomatocytosis
Oxoglutaric aciduria
PCNA-related progressive neurodegenerative photosensitivity syndrome
PDE4D haploinsufficiency syndrome
PEHO syndrome
PEHO-like syndrome
PGM1-CDG
PGM3-CDG
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PLAA-associated neurodevelopmental disorder
PLCG2-associated antibody deficiency and immune dysregulation
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
PLG-related hereditary angioedema with normal C1Inh
PLIN1-related familial partial lipodystrophy
PMM2-CDG
PMP2-related Charcot-Marie-Tooth disease type 1
PMP22-RAI1 contiguous gene duplication syndrome
POGLUT1-related limb-girdle muscular dystrophy R21
POMGNT1-related limb-girdle muscular dystrophy R15
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
PPARG-related familial partial lipodystrophy
PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRUNE1-related neurological syndrome
PUM1-associated developmental disability-ataxia-seizure syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PYCR1-related De Barsy syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
Pachydermoperiostosis
Pachyonychia congenita
Paget disease of bone
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pallister-Hall syndrome
Palmoplantar keratoderma i, striate, focal, or diffuse
Palmoplantar keratoderma, Nagashima type
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Pancreatic agenesis-holoprosencephaly syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Pancreatic lipase deficiency
Pancytopenia due to IKZF1 mutations
Pancytopenia-developmental delay 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
Parietal foramina with clavicular hypoplasia
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Parkinson disease 2, autosomal recessive juvenile
Parkinson disease 22, autosomal dominant
Parkinson disease 3, autosomal dominant
Parkinson-dementia complex of Guam
Parkinsonian-pyramidal syndrome
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal kinesigenic dyskinesia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal non-kinesigenic dyskinesia
Partial androgen insensitivity syndrome
Partial atrioventricular septal defect with ventricular hypoplasia
Partial atrioventricular septal defect without ventricular hypoplasia
Partial chromosome Y deletion
Partial color blindness, deutan type
Partial color blindness, protan type
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Partial hydatidiform mole
Partial pancreatic agenesis
Partington syndrome
Patent ductus arteriosus 1
Paternal uniparental disomy of chromosome 6
Pediatric hepatocellular carcinoma
Pediatric multiple sclerosis
Pediatric systemic lupus erythematosus
Peeling skin syndrome type A
Peeling skin syndrome type B
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher-like disease
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelviscapular dysplasia
Pendred syndrome
Pentosuria
Perinatal lethal hypophosphatasia
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Periodontal Ehlers-Danlos syndrome
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral primitive neuroectodermal tumor
Periventricular nodular heterotopia
Periventricular nodular heterotopia 1
Perlman syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Peroxisomal acyl-CoA oxidase deficiency
Perrault syndrome
Perry syndrome
Persistent Müllerian duct syndrome
Persistent hyperplastic primary vitreous
Persistent polyclonal B-cell lymphocytosis
Peters anomaly
Peters plus syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Phakomatosis cesioflammea
Phakomatosis cesiomarmorata
Phakomatosis pigmentokeratotica
Phocomelia, Schinzel type
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Phosphohydroxylysinuria
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Piebaldism
Pierpont syndrome
Pierson syndrome
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Pigmented paravenous retinochoroidal atrophy
Pilomatrixoma
Pilomyxoid astrocytoma
Pitt-Hopkins syndrome
Pituitary gigantism
Pituitary hormone deficiency, combined 1
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
Plaque-form urticaria pigmentosa
Platelet glycoprotein IV deficiency
Platelet-activating factor acetylhydrolase deficiency
Platyspondylic dysplasia, Torrance type
Plectin-related limb-girdle muscular dystrophy R17
Pleomorphic rhabdomyosarcoma
Pleomorphic salivary gland adenoma
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
Polyendocrine-polyneuropathy syndrome
Polyglucosan body myopathy type 1
Polyglucosan body myopathy type 2
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Polymerase proofreading-related adenomatous polyposis
Polymicrogyria due to TUBB2B mutation
Polymicrogyria with optic nerve hypoplasia
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Polyostotic fibrous dysplasia
Polysyndactyly
Polyvalvular heart disease syndrome
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 10
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Porokeratosis 3, multiple types
Porokeratosis 4, disseminated superficial actinic type
Porokeratosis of Mibelli
Porokeratotic eccrine ostial and dermal duct nevus
Porphyria due to ALA dehydratase deficiency
Porphyria variegata
Postaxial acrofacial dysostosis
Postaxial polydactyly type A
Postaxial polydactyly type B
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior polymorphous corneal dystrophy
Posterior urethral valve
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Postsynaptic congenital myasthenic syndromes
Postural orthostatic tachycardia syndrome due to NET deficiency
Potocki-Shaffer syndrome
PrP systemic amyloidosis
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Precursor T-cell acute lymphoblastic leukemia
Predisposition to severe viral infection due to IRF7 deficiency
Preeclampsia
Preimplantation embryonic lethality
Preimplantation embryonic lethality 2
Prenatal benign hypophosphatasia
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Presynaptic congenital myasthenic syndromes
Primary CD59 deficiency
Primary Fanconi renotubular syndrome
Primary adult open-angle glaucoma
Primary bile acid malabsorption
Primary biliary cholangitis
Primary ciliary dyskinesia
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Primary dystonia, DYT13 type
Primary dystonia, DYT17 type
Primary dystonia, DYT2 type
Primary dystonia, DYT21 type
Primary dystonia, DYT27 type
Primary dystonia, DYT4 type
Primary dystonia, DYT6 type
Primary erythromelalgia
Primary failure of tooth eruption
Primary familial polycythemia
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Primary hypereosinophilic syndrome
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 hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary intraosseous venous malformation
Primary lateral sclerosis
Primary mediastinal large B-cell lymphoma
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Primary myelofibrosis
Primary ovarian failure
Primary peritoneal carcinoma
Primary pigmented nodular adrenocortical disease
Primary sclerosing cholangitis
Primary triglyceride deposit cardiomyovasculopathy
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Progeroid syndrome, Petty type
Progesterone resistance
Progressive autosomal recessive ataxia-deafness syndrome
Progressive bifocal chorioretinal atrophy
Progressive cavitating leukoencephalopathy
Progressive cerebello-cerebral atrophy
Progressive cone dystrophy
Progressive dementia with neuroserpin inclusion bodies
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive epilepsy-intellectual disability syndrome, Finnish type
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
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 familial intrahepatic cholestasis type 5
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive myoclonic epilepsy type 1
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy type 7
Progressive myoclonic epilepsy type 8
Progressive myoclonic epilepsy type 9
Progressive myoclonic epilepsy with dystonia
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive polyneuropathy with bilateral striatal necrosis
Progressive pseudorheumatoid arthropathy of childhood
Progressive retinal dystrophy due to retinol transport defect
Progressive scapulohumeroperoneal distal myopathy
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive symmetric erythrokeratodermia
Prolactinoma
Prolidase deficiency
Properdin deficiency
Propionic acidemia
Proteasome-associated autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome 1
Proteus syndrome
Proteus-like syndrome
Protoplasmic astrocytoma
Proximal 16p11.2 microdeletion syndrome
Proximal Xq28 duplication syndrome
Proximal myopathy with extrapyramidal signs
Proximal myopathy with focal depletion of mitochondria
Proximal myotonic myopathy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Proximal symphalangism
Prune belly syndrome
Pseudo-von Willebrand disease
Pseudoachondroplasia
Pseudoarylsulfatase A deficiency
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Psoriatic arthritis
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Pterin-4 alpha-carbinolamine dehydratase deficiency
Pulmonary alveolar microlithiasis
Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary capillary hemangiomatosis
Pulmonary venoocclusive disease
Pulverulent cataract
Punctate palmoplantar keratoderma type 1
Pure hair and nail ectodermal dysplasia
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 carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
QRICH1-related intellectual disability-chondrodysplasia syndrome
QRSL1-related combined oxidative phosphorylation defect
Quebec platelet disorder
RAPADILINO syndrome
RARS-related autosomal recessive hypomyelinating leukodystrophy
RAS-associated autoimmune leukoproliferative disease
RELA fusion-positive ependymoma
REN-related autosomal dominant tubulointerstitial kidney disease
RERE-related neurodevelopmental syndrome
RFT1-CDG
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
RHYNS syndrome
RIDDLE syndrome
RIN2 syndrome
RNF13-related severe early-onset epileptic encephalopathy
Rabson-Mendenhall syndrome
Radial hemimelia
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Ramon syndrome
Rapid-onset dystonia-parkinsonism
Rare isolated myopia
Ravine syndrome
Reactive arthritis
Recessive X-linked ichthyosis
Recessive dystrophic epidermolysis bullosa inversa
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Recessive mitochondrial ataxia syndrome
Recurrent Neisseria infections due to factor D deficiency
Recurrent acute pancreatitis
Recurrent infection due to specific granule deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Reducing body myopathy
Refractory anemia
Refractory anemia with excess blasts type 1
Refractory anemia with excess blasts type 2
Refsum disease
Regressive spondylometaphyseal dysplasia
Reis-Bücklers corneal dystrophy
Renal agenesis, bilateral
Renal agenesis, unilateral
Renal coloboma syndrome
Renal dysplasia, bilateral
Renal dysplasia, unilateral
Renal hypoplasia, bilateral
Renal pseudohypoaldosteronism type 1
Renal tubular dysgenesis of genetic origin
Renal tubulopathy-encephalopathy-liver failure syndrome
Renal-hepatic-pancreatic dysplasia
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Resistance to thyrotropin-releasing hormone syndrome
Restrictive dermopathy
Reticular dysgenesis
Reticular dystrophy of the retinal pigment epithelium
Retinal arterial tortuosity
Retinal cone dystrophy 1
Retinal cone dystrophy 3a
Retinal cone dystrophy 4
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Retinal macular dystrophy type 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinitis punctata albescens
Retinopathy of prematurity
Rett syndrome
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Rheumatoid arthritis
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 5
Ribose-5-P isomerase deficiency
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
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Romano-Ward syndrome
Rothmund-Thomson syndrome type 1
Rothmund-Thomson syndrome type 2
Rotor syndrome
Roussy-Lévy syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
S-adenosylhomocysteine hydrolase deficiency
SAMD9L-associated autoinflammatory syndrome
SATB2-associated syndrome due to a chromosomal rearrangement
SATB2-associated syndrome due to a pathogenic variant
SBDS-related severe neonatal spondylometaphyseal dysplasia
SERKAL syndrome
SHORT syndrome
SHOX-related short stature
SIM1-related Prader-Willi-like syndrome
SIN3A-related intellectual disability syndrome due to a point mutation
SIX2-related frontonasal dysplasia
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
SLC35A1-CDG
SLC35A2-CDG
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SLC39A8-CDG
SMARCA4-deficient sarcoma of thorax
SPECC1L-related hypertelorism syndrome
SPONASTRIME dysplasia
SRD5A3-CDG
SSR4-CDG
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
STAT3-related early-onset multisystem autoimmune disease
STING-associated vasculopathy with onset in infancy
STT3A-CDG
STT3B-CDG
SURF1-related Charcot-Marie-Tooth disease type 4
SYNGAP1-related developmental and epileptic encephalopathy
Saccharopinuria
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Salla disease
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile 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
Schizophrenia
Schneckenbecken dysplasia
Schnyder corneal dystrophy
Schwannomatosis
Schwartz-Jampel syndrome
Schöpf-Schulz-Passarge syndrome
Sclerosteosis
Scott syndrome
Sea-blue histiocytosis
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
Seckel syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Seizures, benign familial infantile, 1
Seizures-scoliosis-macrocephaly syndrome
Self-improving collodion baby
Self-improving dystrophic epidermolysis bullosa
Semantic dementia
Semilobar holoprosencephaly
Senior-Boichis syndrome
Senior-Loken syndrome
Sensorineural deafness with dilated cardiomyopathy
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Septo-optic dysplasia spectrum
Septopreoptic holoprosencephaly
Serrated polyposis syndrome
Severe Canavan disease
Severe X-linked mitochondrial encephalomyopathy
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe autosomal recessive macrothrombocytopenia
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to FOXN1 deficiency
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency due to LAT deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital nemaline myopathy
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe early-childhood-onset retinal dystrophy
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe generalized junctional epidermolysis bullosa
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Severe hemophilia A
Severe hemophilia B
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
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 intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe myopia-generalized joint laxity-short stature syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe neonatal-onset encephalopathy with microcephaly
Severe neurodegenerative syndrome with lipodystrophy
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe primary trimethylaminuria
Shashi-Pena syndrome
Short chain acyl-CoA dehydrogenase deficiency
Short rib-polydactyly syndrome type 5
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 GHSR deficiency
Short stature due to growth hormone qualitative anomaly
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Short stature due to partial GHR deficiency
Short stature due to primary acid-labile subunit deficiency
Short stature with microcephaly and distinctive facies
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss 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
Sickle cell-hemoglobin E disease syndrome
Sifrim-Hitz-Weiss syndrome
Silent pituitary adenoma
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to a point mutation
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Simpson-Golabi-Behmel syndrome
Singleton-Merten dysplasia
Sinoatrial node dysfunction and deafness
Sitosterolemia
Situs ambiguus
Situs inversus totalis
Sjögren-Larsson syndrome
Skeletal Ewing sarcoma
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
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
Smoldering systemic mastocytosis
Sneddon syndrome
Snowflake vitreoretinal degeneration
Sodium channelopathy-related small fiber neuropathy
Solitary fibrous tumor/hemangiopericytoma
Solitary median maxillary central incisor
Sorsby fundus dystrophy
Sotos syndrome
Southeast Asian ovalocytosis
Spastic ataxia-dysarthria due to glutaminase deficiency
Spastic paraplegia 33, autosomal dominant
Spastic paraplegia 51, autosomal recessive
Spastic paraplegia type 2
Spastic paraplegia type 7
Spastic paraplegia-Paget disease of bone syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Specific language impairment
Specific language impairment 5
Spectrin-associated autosomal recessive cerebellar ataxia
Spermatogenic failure 17
Spheroid body myopathy
Spinal muscular atrophy with congenital bone fractures 1
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 2
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 20
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 25
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 30
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 32
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 37
Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 41
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 43
Spinocerebellar ataxia type 44
Spinocerebellar ataxia type 45
Spinocerebellar ataxia type 46
Spinocerebellar ataxia type 48
Spinocerebellar ataxia type 49
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
Spinocerebellar ataxia with epilepsy
Spinocerebellar ataxia, autosomal recessive 22
Split hand-split foot-deafness syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondylo-ocular syndrome
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, PAPSS2 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, Kimberley type
Spondyloepiphyseal dysplasia, Maroteaux type
Spondyloepiphyseal dysplasia, Stanescu type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Spondyloperipheral dysplasia-short ulna syndrome
Sporadic pheochromocytoma/secreting paraganglioma
Sporadic porphyria cutanea tarda
Squamous cell carcinoma of salivary glands
Squamous cell carcinoma of the esophagus
Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the larynx
Squamous cell carcinoma of the lip
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oral cavity
Squamous cell carcinoma of the oropharynx
Stapes ankylosis with broad thumbs and toes
Stargardt disease
Steel syndrome
Sterile multifocal osteomyelitis with periostitis and pustulosis
Stevens-Johnson syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stiff skin syndrome
Stormorken-Sjaastad-Langslet syndrome
Striate palmoplantar keratoderma
Stromme syndrome
Sturge-Weber syndrome
Stüve-Wiedemann syndrome
Subcortical band heterotopia
Subcutaneous panniculitis-like T-cell lymphoma
Submucosal cleft palate
Succinic semialdehyde dehydrogenase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Sudden cardiac failure, alcohol-induced
Sudden cardiac failure, infantile
Sudden infant death-dysgenesis of the testes syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Superficial epidermolytic ichthyosis
Supravalvular aortic stenosis
Susceptibility to infection due to TYK2 deficiency
Susceptibility to localized juvenile periodontitis
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Sweet syndrome
Symptomatic form of Coffin-Lowry syndrome in female carriers
Symptomatic form of fragile X syndrome in female carriers
Symptomatic form of hemochromatosis type 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Synaptic congenital myasthenic syndromes
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly type 8
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic congenital sodium diarrhea
Syndromic diarrhea
Syndromic microphthalmia type 5
Syndromic multisystem autoimmune disease due to Itch deficiency
Syndromic recessive X-linked ichthyosis
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Synovial sarcoma
Synpolydactyly type 1
Synpolydactyly type 2
Syringocystadenoma papilliferum
Systemic lupus erythematosus
Systemic mastocytosis with associated hematologic neoplasm
Systemic primary carnitine deficiency
Systemic-onset juvenile idiopathic arthritis
Sézary syndrome
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell large granular lymphocyte leukemia
TARP syndrome
TBCK-related intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
TELO2-related intellectual disability-neurodevelopmental disorder
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
TMEM165-CDG
TMEM199-CDG
TMEM70-related mitochondrial encephalo-cardio-myopathy
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
TNP03-related limb-girdle muscular dystrophy D2
TOR1AIP1-related limb-girdle muscular dystrophy
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
TRAPPC11-related limb-girdle muscular dystrophy R18
TRIM32-related limb-girdle muscular dystrophy R8
TSH-secreting pituitary adenoma
Takayasu arteritis
Tall stature-intellectual disability-renal anomalies syndrome
Tall stature-long halluces-multiple extra-epiphyses syndrome
Tangier disease
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B variant, juvenile form
Tay-Sachs disease, B1 variant
Telangiectasia macularis eruptiva perstans
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 3
Telangiectasia, hereditary hemorrhagic, type 4
Telethonin-related limb-girdle muscular dystrophy R7
Temperature-sensitive oculocutaneous albinism type 1
Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to paternal 14q32.2 hypomethylation
Temple syndrome due to paternal 14q32.2 microdeletion
Temple-Baraitser syndrome
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tenorio syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Tessier number 4 facial cleft
Tessier number 7 facial cleft
Testicular regression syndrome
Testicular seminomatous germ cell tumor
Tetraamelia-multiple malformations syndrome
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine-responsive maple syrup urine disease
Thiamine-responsive megaloblastic anemia syndrome
Thiel-Behnke corneal dystrophy
Thomsen and Becker disease
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Thrombocythemia with distal limb defects
Thrombocytopenia 2
Thrombocytopenia with congenital dyserythropoietic anemia
Thrombocytopenia-absent radius syndrome
Thrombomodulin-related bleeding disorder
Thrombophilia due to heparin cofactor II deficiency
Thrombophilia due to protein c deficiency, autosomal recessive
Thyroid cancer, nonmedullary, 2
Thyroid carcinoma, hurthle cell
Thyroid ectopia
Thyroid hypoplasia
Thyrotoxic periodic paralysis
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Tibial muscular dystrophy
Tietz syndrome
Timothy syndrome type 1
Timothy syndrome type 2
Titin-related limb-girdle muscular dystrophy R10
Tooth agenesis, selective, 9
Toriello-Carey syndrome
Toriello-Lacassie-Droste syndrome
Total early-onset cataract
Total spina bifida aperta
Total spina bifida cystica
Tourette syndrome
Townes-Brocks syndrome
Transaldolase deficiency
Transcobalamin deficiency
Transient familial neonatal hyperbilirubinemia
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient myeloproliferative syndrome
Transient neonatal diabetes mellitus
Transketolase deficiency
Treacher collins syndrome 3
Treacher-Collins syndrome
Trehalase deficiency
Tremor-ataxia-central hypomyelination syndrome
Tricho-dento-osseous syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome, type i
Trichorhinophalangeal syndrome, type iii
Trichothiodystrophy
Triose phosphate-isomerase deficiency
Triple A syndrome
Trismus-pseudocamptodactyly syndrome
Tritanopia
Tropical pancreatitis
Truncus arteriosus
Tuberculosis
Tuberous sclerosis complex
Tubular aggregate myopathy
Tubulinopathy-associated dysgyria
Tufted angioma
Tukel syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Turcot syndrome with polyposis
Typical nemaline myopathy
Typical urticaria pigmentosa
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
UMOD-related autosomal dominant tubulointerstitial kidney disease
USP18 deficiency
UV-sensitive syndrome
Ulcerative colitis
Ulnar-mammary syndrome
Unclassified myelodysplastic syndrome
Uncombable hair syndrome
Uncombable hair syndrome 3
Unilateral multicystic dysplastic kidney
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
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
VEXAS syndrome
VPS11-related autosomal recessive hypomyelinating leukodystrophy
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van der woude syndrome 2
Variant ABeta2M amyloidosis
Vascular Ehlers-Danlos syndrome
Vasculitis due to ADA2 deficiency
Vein of Galen aneurysmal malformation
Ventricular septal defect
Ventriculomegaly-cystic kidney disease
Very long chain acyl-CoA dehydrogenase deficiency
Vibratory urticaria
Vici syndrome
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Vitiligo
Vocal cord and pharyngeal distal myopathy
Vogt-Koyanagi-Harada disease
Von Hippel-Lindau disease
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
WAGR syndrome
WARS2-related combined oxidative phosphorylation defect
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
Well-differentiated liposarcoma
Werner syndrome
Whipple disease
White sponge nevus
White-Sutton syndrome
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
Wolff-Parkinson-White syndrome
Wolfram syndrome
Wolfram-like syndrome
Wolman disease
Woodhouse-Sakati syndrome
Woolly hair
Woolly hair nevus
Woolly hair-palmoplantar keratoderma syndrome
Wrinkly skin syndrome
X-inactivation, familial skewed
X-linked Alport syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked Charcot-Marie-Tooth disease type 1
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 Ehlers-Danlos syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked cleft palate and ankyloglossia
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
X-linked cone dysfunction syndrome with myopia
X-linked congenital generalized hypertrichosis
X-linked creatine transporter deficiency
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia punctata
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked dystonia-parkinsonism
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked hereditary sensory and autonomic neuropathy with deafness
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 due to GRIA3 mutations
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Hedera type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Porteous 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, Sutherland-Haan type
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked non progressive cerebellar ataxia
X-linked non-syndromic intellectual disability
X-linked non-syndromic sensorineural deafness type DFN
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked recessive ocular albinism
X-linked reticulate pigmentary disorder
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked severe congenital neutropenia
X-linked severe syndromic thoracic aortic aneurysm and dissection
X-linked sideroblastic anemia
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked spastic paraplegia type 16
X-linked spastic paraplegia type 34
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked spondyloepimetaphyseal dysplasia
X-linked thrombocytopenia with normal platelets
XYLT1-CDG
Xanthinuria type I
Xanthinuria type II
Xeroderma pigmentosum
Xeroderma pigmentosum variant
Xeroderma pigmentosum-Cockayne syndrome complex
Xq21 microdeletion syndrome
Xq25 microduplication syndrome
Xq27.3q28 duplication syndrome
Young adult-onset distal hereditary motor neuropathy
Yunis-Varon syndrome
Zebra body myopathy
Zellweger syndrome
Zimmermann-Laband syndrome
Zinc deficiency, transient neonatal
Zygodactyly type 3
Åland Islands eye disease
See Disease-Gene Co-occurrence
