DISEASES AND GENES

Diseases included in ODCs (with synonyms):

1-alpha-hydroxylase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency type 1
11-beta-hydroxysteroid dehydrogenase deficiency type 2
11p11.2 deletion
12p12.1 microdeletion syndrome
12p13.33 microdeletion syndrome
12q14 microdeletion syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
14q22-q23 microdeletion syndrome
14q22q23 microdeletion syndrome
15q13.3 microdeletion syndrome
15q26 deletion
15q26.3 microdeletion syndrome
16q24.3 microdeletion syndrome
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
17p11.2 microdeletion
17p11.2 microduplication syndrome
17p13.3 duplication syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q23.1-q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
18-hydroxylase deficiency
18-oxidase deficiency
1p21.3 microdeletion syndrome
1p36 deletion syndrome
2,8-dihydroxyadenine urolithiasis
2-aminoadipic 2-oxoadipic aciduria
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
2-methylacyl-CoA racemase deficiency
2-methylbutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
2-oxoglutarate complex deficiency
20p12.3 microdeletion syndrome
22q11.2 deletion syndrome
22q11.2 microduplication syndrome
22q11DS
22q13 deletion
2A syndrome
2p21 deletion
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q32-q33 microdeletion syndrome
2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome
2q37 microdeletion syndrome
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-M syndrome
3-methylcrotonylglycinuria
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 2
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome
3-methylglutaconyl-CoA hydratase deficiency
3-phosphoglycerate dehydrogenase deficiency
3-phosphoserine phosphatase deficiency
3A syndrome
3C syndrome
3M syndrome
3MC syndrome
3MG-CoA hydratase deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-HPPD deficiency
4-hydroxybutyric aciduria
4-hydroxyphenylpyruvic acid dioxygenase deficiency
45,X/46,XY MGD
45,X/46,XY mixed gonadal dysgenesis
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX ovotesticular disorder of sex development
46,XX ovotesticular DSD
46,XX pure gonadal dysgenesis
46,XX testicular disorder of sex development
46,XX testicular DSD
46,XY CGD
46,XY complete gonadal dysgenesis
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
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 complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete LH resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial LH resistance
46,XY DSD due to partial luteinizing hormone resistance
46,XY gonadal dysgenesis - motor and sensory neuropathy
46,XY partial gonadal dysgenesis
46,XY partial testicular dysgenesis
46,XY PGD
46,XY pure gonadal dysgenesis
4A syndrome
4H syndrome
4p- syndrome
5-amino-4-imidazole carboxamide ribosiduria
5-oxoprolinase deficiency
5p13 microduplication syndrome
5q- syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
6q terminal deletion syndrome
6q16 deletion syndrome
6q25 microdeletion syndrome
7-dehydrocholesterol reductase deficiency
7q31 microdeletion syndrome
8p11 myeloproliferative syndrome
8p11.2 deletion syndrome
8p23.1 microdeletion syndrome
8q13 microdeletion syndrome
9q subtelomeric deletion syndrome
9qSTDS
AAA syndrome
AADC deficiency
Aarskog syndrome
Aarskog-Ose-Pande syndrome
Aarskog-Scott syndrome
Aase syndrome
Aase-Smith II syndrome
ABCB4 gene mutation-associated cholelithiasis
Aberfeld syndrome
Abetalipoproteinemia
Abruzzo-Erickson syndrome
ABSD
Absence of fingerprints
Absence of ulna and fibula
Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
ACAD9 deficiency
ACADM deficiency
ACADS deficiency
Acatalasemia
Accelerated skeletal maturation - peculiar facies - failure to thrive
ACCV
Aceruloplasminemia
Acetazolamide-responsive congenital myotonia
Acetazolamide-responsive myotonia
Achalasia - addisonianism - alacrima syndrome
ACHM
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondrogenesis, Houston-Harris type
Achondrogenesis, Langer-Saldino type
Achondrogenesis, Parenti-Fraccaro type
Achondroplasia
Achromatopsia
Acid phosphatase deficiency
Aconitase deficiency
ACPS 2
Acquired HbH disease
Acquired hemoglobin H disease
Acquired idiopathic sideroblastic anemia
Acquired primary erythocytosis
Acral deciduous skin
Acral dystrophic epidermolysis bullosa
Acral peeling skin syndrome
Acral PSS
Acral self-healing collodion baby
Acral SHCB
Acro-dermato-ungual-lacrimal-tooth syndrome
Acro-renal-ocular syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocephalopolysyndactyly type 2
Acrocephalosyndactyly type 1
Acrocephalosyndactyly type 3
Acrodentoosteodysplasia
Acrodermatitis continua suppurativa of Hallopeau
Acrodermatitis enteropathica
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acrodysplasia
Acrofacial dysostosis, Genee-Wiedmann type
Acrofacial dysostosis, Weyers type
Acrogeria
Acrogeria, Gottron type
Acrokeratosis verruciformis of Hopf
Acromegaloid facial appearance syndrome
Acromegaly
Acromesomelic dwarfism
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Acromesomelic dysplasia, Maroteaux type
Acrometageria
Acromicric dysplasia
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Acropigmentation of Dohi
ACS
ACS1
ACS3
ACTH resistance
ACTH-independent macronodular adrenal hyperplasia
Actin myopathy
Action myoclonus - renal failure syndrome
Activation-induced cytidine deaminase deficiency
Acute basophilic leukemia
Acute biphenotypic leukemia
Acute brachial plexus neuritis
Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute fatty liver of pregnancy
Acute idiopathic demyelinating polyneuropathy
Acute infantile encephalopathy predominantly affecting the frontal lobes
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure-multisystemic involvement syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Acute inflammatory polyneuropathy
Acute intermittent porphyria
Acute megakaryoblastic leukemia without Down syndrome
Acute myeloblastic leukemia type 1
Acute myeloblastic leukemia type 2
Acute myeloblastic leukemia type 3
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelogenous leukemia
Acute myeloid leukemia
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Acute myelomonocytic leukemia
Acute necrotizing encephalopathy of childhood
Acute neonatal citrullinemia type 1
Acute neonatal citrullinemia type I
Acute neuronopathic Gaucher disease
Acute non-lymphoblastic leukemia
Acute promyelocytic leukemia
Acute undifferentiated leukemia
ACY1D
Acyl-CoA dehydrogenase 9 deficiency
ACZ-responsive congenital myotonia
ACZ-responsive myotonia
AD dRTA
AD hypocalcemia
AD-CNM
AD-HED
AD-HIES
ADA deficiency
Adactyly of foot, bilateral
Adactyly of foot, unilateral
Adair-Dighton syndrome
Adams-Oliver syndrome
ADANE
ADCA-DN
ADCL
ADCME
Adducted thumb - clubfoot syndrome
Adducted thumbs - arthrogryposis, Dundar type
ADEAF
Adenine phosphoribosyltransferase deficiency
Adenosine monophosphate deaminase deficiency
Adenylosuccinase deficiency
Adenylosuccinate lyase deficiency
ADHR
ADK hypermethioninemia
ADLTE
ADMERF
ADNFLE
ADNIV
ADP platelet receptor P2Y12 defect
ADPCLD
ADPEAF
adPEO
Adrenal insufficiency - achalasia - alacrima
Adrenocortical carcinoma
Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
Adrenomyeloneuropathy
ADSD
ADSL deficiency
Adult Bartter syndrome
Adult basal ganglia disease
Adult GM2 gangliosidosis 0 variant
Adult hepatocellular carcinoma
Adult hypophosphatasia
Adult Krabbe disease
Adult phosphoethanolaminuria
Adult polyglucosan body disease
Adult progeria
Adult Rathburn disease
ADULT syndrome
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Adult-onset autosomal dominant leukodystrophy
Adult-onset autosomal recessive cerebellar ataxia
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset citrin deficiency
Adult-onset citrullinemia type 1
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type I
Adult-onset CPEO with mitochondrial myopathy
Adult-onset distal myopathy due to VCP mutation
Adult-onset dystonia-parkinsonism
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset foveomacular vitelliform dystrophy
Adult-onset GM1 gangliosidosis
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
Adult-onset PLS
Adult-onset primary lateral sclerosis
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Adult-onset vitelliform macular dystrophy
ADVIRC
Adynamia episodica hereditaria
AE
AEC syndrome
AEI
AESD
AEXS
AEZ
AFG3L2-associated spastic ataxia-neuropathy syndrome
AFLP
Agammaglobulinemia, non-Bruton type
Aganglionic megacolon
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Aggressive fibromatosis
Agnathia - holoprosencephaly - situs inversus
Agnogenic myeloid metaplasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
AHC
AHDS
AHO - PHP Ia
AHO - PPHP
aHUS with anti-factor H antibodies
aHUS with B factor anomaly
aHUS with C3 anomaly
aHUS with DGKE deficiency
aHUS with H factor anomaly
aHUS with I factor anomaly
aHUS with MCP/CD46 anomaly
aHUS with thrombomodulin anomaly
AICA-ribosiduria
Aicardi-Goutières syndrome
AID deficiency
AIDP
AIED
AIEF
AIMAH
AISA
AK2 deficiency
Al Awadi-Raas-Rothschild syndrome
ALAD porphyria
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome due to a JAG1 point mutation
Alagille-Watson syndrome due to a NOTCH2 point mutation
Alagille-Watson syndrome due to monosomy 20p12
Albers-Schönberg osteopetrosis
Albright hereditary osteodystrophy - PHP Ia
Albright hereditary osteodystrophy - PPHP
Albright hereditary osteodystrophy 3
Albright hereditary osteodystrophy-like syndrome
Alcohol-responsive dystonia
ALDH18A1-related De Barsy syndrome
Aldosterone synthase deficiency
Aldosterone-producing adenoma with seizures and neurological abnormalities
Aldosterone-secreting adenoma with seizures and neurological abnormalities
Aleukemic mast cell leukemia
Alexander disease type I
Alexander disease type II
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
ALK+ ALCL
ALK+ anaplastic large cell lymphoma
ALK+ large B-cell lymphoma
ALK+ LBCL
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Alkaptonuria
Allan-Herndon-Dudley syndrome
Allgrove syndrome
Alobar holoprosencephaly
Alopecia - progressive neurological defect - endocrinopathy
Alopecia universalis
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Alpers-Huttenlocher syndrome
Alpha storage pool deficiency
Alpha thalassemia - intellectual deficit syndrome, deletion type
Alpha thalassemia - retardation syndrome
Alpha-1,4-glucosidase acid deficiency, adult onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, juvenile onset
Alpha-1-antichymotrypsin deficiency
Alpha-1-antitrypsin deficiency
Alpha-aminoadipic aciduria
Alpha-crystallinopathy
Alpha-galactosidase A deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-L-fucosidase deficiency
Alpha-mannosidosis, adult form
Alpha-mannosidosis, infantile form
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Alpha-methyl-acyl-CoA racemase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-sarcoglycanopathy
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Alpha-thalassemia - myelodysplastic syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia hydrops fetalis
Alpha-thalassemia intermedia
Alpha-thalassemia major
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
ALPS
ALPS with recurrent infections
ALS
ALS4
ALSG
ALSP
Alström syndrome
ALT
Alternating hemiplegia in childhood
Alternating hemiplegia of childhood
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Alveolar rhabdomyosarcoma
Alveolar soft-part sarcoma
ALX1-related frontonasal dysplasia
ALX4-related FNDAG
AMACR deficiency
Amaurosis congenita of Leber
Amelo-cerebro-hypohidrotic syndrome
Amelogenesis imperfecta - nephrocalcinosis
Amelogenesis imperfecta and gingival hyperplasia syndrome
Amelogenesis imperfecta type 1
Amelogenesis imperfecta type 2
Amelogenesis imperfecta type 3
Amelogenesis imperfecta type 4
Aminoaciduria, Hartnup type
Amish infantile epilepsy syndrome
Amish lethal microcephaly
Amish nemaline myopathy
AML
AML with CEBPA somatic mutations
AMME complex
AMME syndrome
AMP deaminase deficiency
Ampola syndrome
Amylo-1,6-glucosidase deficiency
Amyloidosis AA
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam
Amyotrophy - fat tissue anomaly
Anaplastic ependymoma
Anauxetic dysplasia
Andermann syndrome
Andersen cardiodysrhythmic periodic paralysis
Andersen syndrome
Andersen-Tawil syndrome
Anderson disease
Anderson-Fabry disease
Androblastoma
ANE syndrome
ANEC
Aneurysm - osteoarthritis syndrome
Angel-shaped phalango-epiphyseal dysplasia
Angelman syndrome
Angioendotheliomatosis proliferans systemisata
Angiokeratoma corporis diffusum
Angiotropic large cell lymphoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Anhidrotic ectodermal dysplasia with immunodeficiency
Aniridia - cerebellar ataxia - intellectual deficit
Ankyloblepharon - ectodermal defects - cleft lip/palate
Ankylosis of teeth
Annular epidermolytic ichthyosis
Annuloaortic ectasia
Anonychia
Anophthalmia - pulmonary hypoplasia
Anophthalmia-syndactyly syndrome
Anophthalmia/microphthalmia - esophageal atresia
Anotia
Antenatal Bartter syndrome
Anterior limiting membrane dystrophy type I
Anterior limiting membrane dystrophy type II
Anterior polar cataract
Anterior subcapsular cataract
Anti-C1q vasculitis
Antley-Bixler syndrome
AO1
AO3
AOA1
AOA2
AOFMD
AOI
AOIII
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
AOS
AP4 deficiency syndrome
APA with seizures and neurological abnormalities
APBD
APC-related AFAP
APC-related attenuated familial adenomatous polyposis
APC-related attenuated familial polyposis coli
APC-related attenuated FAP
APECED syndrome
Apert syndrome
aPLAID
Aplasia cutis congenita verticis
Aplasia of lacrimal and salivary glands
Aplasia of tibia with split-hand/split-foot deformity
Aplasia/hypoplasia of limbs and pelvis
ApoA-I deficiency
Apolipoprotein A-I deficiency
Apolipoprotein AI amyloidosis
Apolipoprotein AII amyloidosis
Apparent mineralocorticoid excess
APRT deficiency
APS1
AR dRTA with hearing loss
AR dRTA without deafness
AR dRTA without hearing loss
AR dRTA wth deafness
AR hyper-IgE syndrome due to TYK2 deficiency
AR pRTA
AR-CMT2B1
AR-CMT2B2
AR-CMT2C
AR-CNM
AR-HED
AR-HIES
AR-HIES due to TYK2 deficiency
ARAN-NM
ARC syndrome
ARCA1
ARCA2
ARCL1
ARCL2, classic type
ARCL2, Debré type
ARCL2, progeroid type
ARCL2B
ARCMT2-NM
ARCMT2K
Areolar atrophy of the macula
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininemia
Argininosuccinase deficiency
Argininosuccinic aciduria
ARHR
Arias syndrome
Arima syndrome
Arkless-Graham syndrome
Arnold-Chiari malformation type 2
Arnold-Chiari malformation type II
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
arPEO
Arrhenoblastoma
ARSA
ARSACS
ARSAL
Arterial tortuosity syndrome
Arteriohepatic dysplasia due to a JAG1 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to monosomy 20p12
Arthro-dento-ostéodysplasie
Arthrodentoosteodysplasia
Arthrogryposis - renal dysfunction - cholestasis
Arthrogryposis multiplex congenita - pulmonary hypoplasia
Arthrogryposis with oculomotor limitation and electroretinal anomalies
Arthrogryposis-like syndrome
Arthropathy-camptodactyly syndrome
Arts syndrome
Arylsulfatase A deficiency, adult form
Arylsulfatase A deficiency, juvenile form
Arylsulfatase A deficiency, late infantile form
Arylsulfatase B deficiency, rapidly progressing
Arylsulfatase B deficiency, slowly progressing
ASD due to AUTS2 deficiency
ASD, ostium primum type
ASD, ostium secundum type
ASD, sinus venosus type
Aseptic necrosis of the capital femoral epiphysis
Asparagine synthetase deficiency
Aspartylglucosaminidase deficiency
Aspartylglucosaminuria
ASPED
Asphyxiating thoracic dystrophy of the newborn
AT V1
Ataxia - hypogonadism - choroidal dystrophy
Ataxia - oculomotor apraxia type 1
Ataxia - oculomotor apraxia type 2
Ataxia with isolated vitamin E deficiency
Ataxia with vitamin E deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Ataxia-telangiectasia, variant 1
Ataxia-telangiectasia-like disorder
ATCS
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Athabascan brainstem dysgenesis syndrome
Athabaskan brainstem dysgenesis syndrome
Athyreosis
ATIC deficiency
ATLD
ATMDS
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
ATR-X syndrome
Atresia of bile ducts
Atrial cardiomyopathy with heart block
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium primum type
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Atrial stand still
Atrichia with papular lesions
Atrio-digital dysplasia, Slovenian type
Atriodigital dysplasia type 1
Atrophia areata
Atrophia bulborum hereditaria
ATRUS syndrome
ATS
ATS-MR
Attenuated Chédiak-Higashi syndrome
ATTR cardiomyopathy
Atypical Chédiak-Higashi syndrome
Atypical chronic myeloid leukemia
Atypical dentin dysplasia due to SMOC2 deficiency
Atypical Gaucher disease due to saposin C deficiency
Atypical glycine encephalopathy
Atypical granular corneal dystrophy
Atypical HCS
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Atypical hemolytic uremic syndrome with B factor anomaly
Atypical hemolytic uremic syndrome with C3 anomaly
Atypical hemolytic uremic syndrome with DGKE deficiency
Atypical hemolytic uremic syndrome with H factor anomaly
Atypical hemolytic uremic syndrome with I factor anomaly
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Atypical HUS with anti-factor H antibodies
Atypical HUS with B factor anomaly
Atypical HUS with C3 anomaly
Atypical HUS with DGKE deficiency
Atypical HUS with H factor anomaly
Atypical HUS with I factor anomaly
Atypical HUS with MCP/CD46 anomaly
Atypical HUS with thrombomodulin anomaly
Atypical hypotonia - cystinuria syndrome
Atypical juvenile parkinsonism
Atypical lipoma
Atypical lipomatous tumor
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Atypical MRKH syndrome
Atypical pantothenate kinase-associated neurodegeneration
Atypical progeroid syndrome
Atypical Rett syndrome
Atypical Rokitansky syndrome
Atypical RTT
Atypical teratoid tumor
Atypical Werner syndrome
Atypical X-linked achromatopsia
Auriculocondylar syndrome
Austin type juvenile sulfatidosis
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 type 1
Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy type 1
Autoimmune polyglandular syndrome type 1
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal agammaglobulinemia
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Alport syndrome
Autosomal dominant anhidrotic ectodermal dysplasia
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant aplastic anemia and myelodysplasia
Autosomal dominant BECRS
Autosomal dominant benign distal spinal muscular atrophy
Autosomal dominant beta2-microglobulinic amyloidosis
Autosomal dominant brachyolmia
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant cervical dystonia
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
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 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 2P
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant childhood-onset cortical cataract
Autosomal dominant childhood-onset progressive cortical cataract
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant cortical myoclonus and epilepsy
Autosomal dominant cutis laxa
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
Autosomal dominant distal renal tubular acidosis
Autosomal dominant dopa-responsive dystonia
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant epilepsy with auditory features
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal dominant familial spastic paraplegia type 3
Autosomal dominant focal dystonia, DYT25
Autosomal dominant gingival fibromatosis
Autosomal dominant gingival hyperplasia
Autosomal dominant hereditary hemochromatosis
Autosomal dominant HIES
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hyperimmunoglobulin E syndrome
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
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 hypophosphatemia
Autosomal dominant hypophosphatemic rickets
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 isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant keratitis
Autosomal dominant Larsen syndrome
Autosomal dominant late-onset retinal degeneration
Autosomal dominant lateral temporal lobe epilepsy
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant limb-girdle muscular dystrophy type 1C
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant macrothrombocytopenia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
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 mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal dominant methemoglobinemia
Autosomal dominant microcephaly
Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant nephronophthisis
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant nonsyndromic neurosensory deafness type DFNA
Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy type 3
Autosomal dominant optic atrophy, classic type
Autosomal dominant optic atrophy, Kjer type
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Autosomal dominant periodic fever
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant polycystic liver disease
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant Robinow syndrome
Autosomal dominant secondary erythrocytosis
Autosomal dominant secondary polycythemia
Autosomal dominant Segawa syndrome
Autosomal dominant severe congenital neutropenia
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant spasmodic torticollis
Autosomal dominant spastic ataxia 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 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spinocerebellar ataxia type 7
Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
Autosomal dominant striatal neurodegeneration
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive Alport syndrome
Autosomal recessive anhidrotic ectodermal dysplasia
Autosomal recessive ataxia due to coenzyme Q10 deficiency
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 type 2B2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Autosomal recessive axonal CMT4C1
Autosomal recessive axonal CMT4C2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia - cognitive defect
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive cerebellar ataxia - psychomotor retardation
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
Autosomal recessive cerebellar ataxia type 1
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebral atrophy
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Autosomal recessive CHED
Autosomal recessive childhood-onset cortical cataract
Autosomal recessive chorioretinopathy-microcephaly
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital hereditary endothelial dystrophy
Autosomal recessive congenital hypomyelinating neuropathy
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Autosomal recessive cutis laxa type 2, progeroid type
Autosomal recessive cutis laxa type 2B
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive distal renal tubular acidosis with deafness
Autosomal recessive distal renal tubular acidosis with hearing loss
Autosomal recessive distal renal tubular acidosis without deafness
Autosomal recessive distal renal tubular acidosis without hearing loss
Autosomal recessive distal spinal muscular atrophy type 1
Autosomal recessive distal spinal muscular atrophy type 4
Autosomal recessive distal spinal muscular atrophy type 5
Autosomal recessive dopa-responsive dystonia
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, generalized other
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Autosomal recessive early-onset IBD
Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive exfoliative ichthyosis
Autosomal recessive HIES
Autosomal recessive hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
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 intellectual deficit due to TRAPPC9 deficiency
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 osteopetrosis
Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Larsen syndrome
Autosomal recessive lethal multiple pterygium syndrome
Autosomal recessive LGMD due to ISPD deficiency
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive lymphoproliferative disease
Autosomal recessive malignant osteopetrosis
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 interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive multiple epiphyseal dysplasia
Autosomal recessive multiple pterygium syndrome
Autosomal recessive myogenic AMC
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive nail dysplasia
Autosomal recessive non-lethal multiple pterygium syndrome
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic neurosensory deafness type DFNB
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive omodysplasia
Autosomal recessive optic atrophy type 3
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Autosomal recessive polycystic kidney disease
Autosomal recessive popliteal pterygium syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive Robinow syndrome
Autosomal recessive Segawa syndrome
Autosomal recessive sensory radicular neuropathy
Autosomal recessive sepiapterin reductase-deficient DRD
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive sideroblastic anemia
Autosomal recessive SLE
Autosomal recessive spastic ataxia - optic atrophy - dysarthria
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia type 3
Autosomal recessive spastic ataxia type 4
Autosomal recessive spastic ataxia type 5
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 30
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 49
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 58
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 7
Autosomal recessive spinocerebellar ataxia type 10
Autosomal recessive spinocerebellar ataxia type 11
Autosomal recessive spinocerebellar ataxia type 14
Autosomal recessive spinocerebellar ataxia type 7
Autosomal recessive spinocerebellar ataxia type 9
Autosomal recessive spinocerebellar ataxia-12
Autosomal recessive spondylocostal dysostosis
Autosomal recessive Stickler syndrome
Autosomal recessive systemic lupus erythematosus
Autosomal thrombocytopenia with normal platelets
AUTS2 syndrome
AVED
Avellino corneal dystrophy
AVMD
AxD type I
AxD type II
Axenfeld anomaly
Axenfeld syndrome
Axenfeld-Rieger syndrome
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
Azoospermia due to maturation arrest
Azoospermia due to meiosis defect
Åland Islands eye disease
B-ALL
B-cell chronic lymphocytic leukemia
B-cell chronic lymphoid leukemia
B-CLL
B4GALT1-CDG
B4GALT7-CDG
BAFME
Bainbridge-Roppers syndrome
Bakrania-Ragge syndrome
Baller-Gerold syndrome
Bamboo hair syndrome
Bamforth syndrome
Bamforth-Lazarus syndrome
Bangungut
Bannayan-Riley-Ruvalcaba syndrome
BAP1-related tumor predisposition syndrome
Baraitser-Brett-Piesowicz syndrome
Baraitser-Burn syndrome
Baraitser-Reardon syndrome
Baraitser-Winter syndrome
Barakat syndrome
Bardet-Biedl syndrome
Bare lymphocyte syndrome type 1
Bare lymphocyte syndrome type 2
Barraquer-Simons syndrome
Bart-Pumphrey syndrome
Barth syndrome
Bartsocas-Papas syndrome
Bartter syndrome type 3
Bartter syndrome type 4
Bartter syndrome type 5
Bartter syndrome type V
Bartter syndrome with hypocalcemia
Basal cell nevus syndrome
BASM syndrome
Bassen-Kornzweig disease
Bathing suit ichthyosis
BBGD
BBS
BCD
BCIE
Beals syndrome
Beals-Hecht syndrome
Beare-Stevenson cutis gyrata syndrome
Becker dystrophinopathy
Becker muscular dystrophy
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to NSD1 mutation
Behavioral variant of frontotemporal dementia
Behçet disease
Benign adult familial myoclonic epilepsy
Benign autosomal dominant myopathy
Benign chronic familial pemphigus of Hailey-Hailey
Benign COX deficiency
Benign essential blepharospasm
Benign familial chorea
Benign familial epilepsy of childhood with rolandic spikes
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
Benign familial neonatal-infantile seizures
Benign focal amyotrophy
Benign joint hypermobility syndrome
Benign neonatal-infantile epilepsy
Benign paroxysmal peritonitis
Benign paroxysmal torticollis of infancy
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Benign recurrent polyserositis
Benign Samaritan congenital myopathy
Bennion-Patterson syndrome
Beradinelli-Seip syndrome
Berardinelli-Seip congenital lipodystrophy
Berlin breakage syndrome
Bernard-Soulier syndrome
Berylliosis
Beryllium granulomatosis
Beryllium pneumonosis
Besnier-Boeck-Schaumann disease
Bessel-Hagen disease
Best disease
Best macular dystrophy
Best vitelliform macular dystrophy
Beta-1,4-galactosyltransferase deficiency
Beta-alanine synthase deficiency
Beta-D-galactosidase deficiency
Beta-glucuronidase deficiency
Beta-mannosidase deficiency
Beta-mannosidosis
Beta-propeller protein-associated neurodegeneration
Beta-sarcoglycanopathy
Beta-thalassemia - X-linked thrombocytopenia
Beta-thalassemia intermedia
Beta-thalassemia major
Beta-ureidopropionase deficiency
Bethlem myopathy
BFIE
BFIS
BFLS
BFNIS
BH4-responsive HPA/PKU
BH4-responsive hyperphenylalaninemia/phenylketonuria
Biber-Haab-Dimmer dystrophy
Bickel-Fanconi glycogenosis
Bickers-Adams syndrome
Bidirectional tachycardia
Bidirectional tachycardia induced by catecholamine
Bietti crystalline corneoretinal dystrophy
Bietti crystalline dystrophy
Bietti crystalline retinopathy
Bifid nose with or without anorectal and renal anomalies
Bifunctional enzyme deficiency
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral microtia - deafness - cleft palate
Bilateral multicystic renal dysplasia
Bilateral perisylvian polymicrogyria
Bilateral PPD2
Bilateral renal agenesis
Bilateral renal dysplasia
Bilateral retinoblastoma
Bilateral striopallidodentate calcinosis
Biliary atresia
Biliary atresia with splenic malformation syndrome
Bilineal acute leukemia
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Bilirubin-UGT deficiency type 1
Bilirubin-UGT deficiency type 2
Biotin-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bitemporal aplasia cutis congenital
Björnstad syndrome
BJHS
Blackfan-Diamond anemia
Bladder exstrophy
Blau syndrome
BLC
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to thromboxane synthesis deficiency
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23)
Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23
Blepharophimosis types 1 and 2 due to 3q23 microdeletion
Blepharophimosis types 1 and 2 due to a point mutation
Blepharophimosis types 1 and 2 due to del(3)(q23)
Blepharophimosis types 1 and 2 due to monosomy 3q23
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Blepharophimosis-intellectual deficit syndrome, MKB type
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
Blomstrand lethal chondrodysplasia
Bloom syndrome
Blue colour blindness
Blue cone monochromacy
Blue cone monochromatism
Blue-dot cataract
BMD
BMRS, Maat-Kievit-Brunner type
BMRS, MKB type
BNAR syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Boeck sarcoid
Boeck's sarcoid
BOFS
Bohring syndrome
Bohring-Opitz syndrome
Boichis disease
Bone dysplasia - medullary fibrosarcoma
Bone fragility-contractures-arterial rupture-deafness syndrome
Bone marrow failure
Bonneau-Beaumont syndrome
Boomerang dysplasia
Booth-Haworth-Dilling syndrome
BOR syndrome
Borjeson-Forssman-Lehmann syndrome
Borrmann gastric cancer type 4
BOS syndrome
Bosley-Salih-Alorainy syndrome
Bothnia retinal dystrophy
Boucher-Neuhäuser syndrome
Bourneville syndrome
Bowen syndrome, Hutterite type
Bowen-Conradi syndrome
Boyadjiev-Jabs syndrome
BPAN
Brachial plexus neuritis
Brachmann-de Lange syndrome
Brachydactyly - elbow wrist dysplasia
Brachydactyly - joint dysplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type B
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type E
Brachydactyly, Farabee type
Brachydactyly, Mohr-Wriedt type
Brachydactyly-intellectual deficit
Brachydactyly-short stature-microcephaly syndrome
Brachydactyly-syndactyly, Zhao type
Brachyolmia type 1, Toledo type
Brachyolmia type 3
Brachytelephalangic chondrodysplasia punctata
Bradyopsia
Brain demyelination due to methionine adenosyltransferase deficiency
Brain dopamine-serotonin vesicular transport disease
Brain small vessel disease with hemorrhage
Brain-lung-thyroid syndrome
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Branchio-oculo-facial syndrome
Branchio-otic syndrome
Branchiootorenal syndrome
Brauer syndrome
BRESEK syndrome
BRESHECK syndrome
BRIC type 1
BRIC type 2
BRIC1
BRIC2
Brittle cornea syndrome
Broad-betalipoproteinemia
Brody myopathy
Brown-Vialetto-van Laere syndrome
BRRS
Bruck syndrome
Brugada syndrome
Brunner-Winter syndrome type 1
Brunner-Winter syndrome type 2
Brunzell syndrome
Bruton type agammaglobulinemia
BSCL
BSEP deficiency
BSI
BSPDC
BSyn
BTBGD
BTD deficiency
BTHS
BTK-deficiency
Buckley syndrome
Budd-Chiari syndrome
Bulbospinal muscular atrophy
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous DCM
Bullous diffuse cutaneous mastocytosis
Bullous ichthyosis
Bullous pemphigoid
Burkitt lymphoma
Burton disease
Burton skeletal dysplasia
Burton syndrome
Buschke-Fischer-Brauer syndrome
Buschke-Ollendorff syndrome
Butterfly-shaped pigment dystrophy
Butyrylcholinesterase deficiency
bv-FTD
BVMD
Byler disease
C syndrome
C- beta-thalassemia
C-like syndrome
C3 deficiency
C3 glomerulonephritis
Cabezas syndrome
CACD
CACP syndrome
CACT deficiency
CADASIL
CADDS
Caffey disease
CAH due to 11-beta-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAIS
Calcium pyrophosphate deposition disease
Calcium pyrophosphate dihydrate crystal deposition disease
Camisa disease
CAMOS syndrome
Campomelic dwarfism
Campomelic dysplasia
Camptodactyly - overgrowth - unusual facies
Camptodactyly - tall stature - scoliosis - hearing loss
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
CAMRQ syndrome
Camurati-Engelmann disease
Canale-Smith syndrome
CANDLE syndrome
Cap disease
Cap myopathy
Capdepont teeth
Capillary malformation - arteriovenous malformation
CAPOS syndrome
CARASIL
Carbamoyl phosphate synthetase 1 deficiency
Carbamoylphosphate synthetase deficiency
Carbohydrate deficient glycoprotein syndrome Ig
Carbohydrate deficient glycoprotein syndrome Ih
Carbohydrate deficient glycoprotein syndrome Ii
Carbohydrate deficient glycoprotein syndrome type Ia
Carbohydrate deficient glycoprotein syndrome type Ib
Carbohydrate deficient glycoprotein syndrome type Ic
Carbohydrate deficient glycoprotein syndrome type Id
Carbohydrate deficient glycoprotein syndrome type Ie
Carbohydrate deficient glycoprotein syndrome type If
Carbohydrate deficient glycoprotein syndrome type IIa
Carbohydrate deficient glycoprotein syndrome type IIb
Carbohydrate deficient glycoprotein syndrome type IId
Carbohydrate deficient glycoprotein syndrome type IIe
Carbohydrate deficient glycoprotein syndrome type IIf
Carbohydrate deficient glycoprotein syndrome type IIg
Carbohydrate deficient glycoprotein syndrome type IIh
Carbohydrate deficient glycoprotein syndrome type IIi
Carbohydrate deficient glycoprotein syndrome type IIj
Carbohydrate deficient glycoprotein syndrome type Ij
Carbohydrate deficient glycoprotein syndrome type Ik
Carbohydrate deficient glycoprotein syndrome type IL
Carbohydrate deficient glycoprotein syndrome type Im
Carbohydrate deficient glycoprotein syndrome type In
Carbohydrate deficient glycoprotein syndrome type Io
Carbohydrate deficient glycoprotein syndrome type Ip
Carbohydrate deficient glycoprotein syndrome type Ir
Carbohydrate deficient glycoprotein syndrome type Iu
Carbonic anhydrase 2 deficiency
Carcinoid tumor and carcinoid syndrome
Carcinoma associated with MITF/TFE translocation
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Cardiac conduction disease - dilated cardiomyopathy - brachydactyly
Cardiodysrhythmic potassium-sensitive periodic paralysis
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomyopathic lentiginosis
Cardiomyopathy - hypotonia - lactic acidosis
Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia
Cardiovascular Gaucher disease
Carmi syndrome
Carney complex
Carney complex variant
Carney complex-trismus-pseudocamptodactyly syndrome
Carney dyad
Carney syndrome
Carney-Stratakis dyad
Carney-Stratakis syndrome
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
Carnitine palmitoyl transferase IA deficiency
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine transporter defect
Carnitine uptake deficiency
Carnitine-acylcarnitine translocase deficiency
Carpenter syndrome
Carpenter-Waziri syndrome
Carvajal syndrome
CAS
Catalase deficiency
Cataract - intellectual deficit - hypogonadism
Cataract - microphthalmia - radiculomegaly - septal heart defect
Cataract with Y-shaped suture opacities
Cataract-glaucoma
Cataract-microcornea syndrome
CATCH 22
Catecholaminergic polymorphic ventricular tachycardia
Catel-Hempel syndrome
Catel-Manzke syndrome
Cathepsin D deficiency
Catlin marks
CATSHL syndrome
CATSPER1-related non syndromic male infertility
Caudal dysplasia
Caudal regression sequence
CAVC - Fallot tetralogy
CAVC - left heart obstruction
CAVC - ventricle hypoplasia
CAVC type A
CAVC type B
CAVC type C
Cayler cardiofacial syndrome
Cayman ataxia
CBL syndrome
CCA syndrome
CCFDN
CCHS
CCMCO
CCRCC
CDA due to KLF1 mutation
CDA I
CDA II
CDA III
CDA IV
CDA type 1
CDA type 2
CDA type 3
CDA type 4
CDA type I
CDA type II
CDA type III
CDA type IV
CDAN4
CDG syndrome type 1m
CDG syndrome type 1p
CDG syndrome type 2h
CDG syndrome type 2k
CDG syndrome type 2m
CDG syndrome type Ia
CDG syndrome type Ib
CDG syndrome type Ic
CDG syndrome type Id
CDG syndrome type Ie
CDG syndrome type If
CDG syndrome type Ig
CDG syndrome type Ih
CDG syndrome type Ii
CDG syndrome type IIa
CDG syndrome type IIb
CDG syndrome type IIc
CDG syndrome type IId
CDG syndrome type IIe
CDG syndrome type IIf
CDG syndrome type IIg
CDG syndrome type IIh
CDG syndrome type IIi
CDG syndrome type IIj
CDG syndrome type IIk
CDG syndrome type IIm
CDG syndrome type Ij
CDG syndrome type Ik
CDG syndrome type IL
CDG syndrome type Im
CDG syndrome type In
CDG syndrome type Io
CDG syndrome type Ir
CDG syndrome type Is
CDG syndrome type Iu
CDG-Ia
CDG-Ib
CDG-Ic
CDG-Id
CDG-Ie
CDG-If
CDG-Ig
CDG-Ih
CDG-Ii
CDG-IIa
CDG-IIb
CDG-IIc
CDG-IId
CDG-IIe
CDG-IIf
CDG-IIg
CDG-IIh
CDG-IIi
CDG-IIj
CDG-IIk
CDG-IIm
CDG-Ij
CDG-Ik
CDG-IL
CDG-Im
CDG-In
CDG-Io
CDG-Ip
CDG-Iq
CDG-Ir
CDG-Is
CDG-Iu
CDG1A
CDG1B
CDG1C
CDG1D
CDG1E
CDG1F
CDG1G
CDG1H
CDG1I
CDG1J
CDG1K
CDG1L
CDG1M
CDG1N
CDG1O
CDG1P
CDG1Q
CDG1R
CDG1S
CDG1U
CDG2A
CDG2B
CDG2C
CDG2D
CDG2E
CDG2F
CDG2G
CDG2H
CDG2I
CDG2J
CDG2K
CDG2M
CDGIt
CDH
CDHS
CDPD
CDPX2
CDPXD
CED
CEDNIK syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Cenani-Lenz syndrome
Central areolar choroidal dystrophy
Central areolar choroidal sclerosis
Central congenital hypoventilation syndrome
Central core disease
Central hypothyroidism due to TRH receptor deficiency
Centripetal dystrophic epidermolysis bullosa
Centripetal recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Centronuclear myopathy type 4
Centrotemporal epilepsy
CEP
CEPT deficiency
Ceramidase deficiency
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Cerebellar ataxia - hypogonadism
Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome
Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities
Cerebellar ataxia, Cayman type
Cerebellar ataxia-deafness-narcolepsy syndrome
Cerebellar neuroblastoma
Cerebellar syndrome - pigmentary maculopathy
Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
Cerebello-oculo-renal syndrome
Cerebelloparenchymal disorder IV
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral creatine deficiency
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Cerebral gigantism
Cerebral juvenile and adult form of Gaucher disease
Cerebral proliferative glomeruloid vasculopathy
Cerebral sinovenous thrombosis
Cerebro-facio-articular syndrome
Cerebro-facio-thoracic dysplasia
Cerebrofrontofacial syndrome type 3
Cerebrohepatorenal syndrome
Cerebrooculofacioskeletal syndrome
Cerebroretinal microangiopathy with calcifications and cysts
Cerebroretinal vasculopathy
Cerebrotendinous xanthomatosis
Cerebrovascular ferrocalcinosis
Cernunnos deficiency
Cernunnos XLFD
Cernunnos-XLF deficiency
Cerulean cataract
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
CF
CFC syndrome
CFND
CFNS
CFTDM
ChAc
Channelopathy-associated congenital insensitivity to pain
Char syndrome
Charcot disease
Charcot-Marie-Tooth disease - deafness
Charcot-Marie-Tooth disease - nephropathy
Charcot-Marie-Tooth disease - pyramidal features
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 2H
Charcot-Marie-Tooth disease type 3
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
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type 6
Charcot-Marie-Tooth disease with focally folded myelin
CHARGE association
CHARGE syndrome
Charlevoix disease
Chédiak-Higashi disease
Chédiak-Higashi syndrome
Chédiak-Higashi-Steinbrink syndrome
CHC type 2
CHED2
CHEDII
Cheney syndrome
Cherry-red spot-myoclonus syndrome
Cherubism
Chiari malformation type 2
Chiari malformation type II
Chilblain lupus
CHILD nevus
CHILD syndrome
Childhood absence epilepsy
Childhood apraxia of speech
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset hypophosphatasia
Childhood-onset nemaline myopathy
Childhood-onset phosphoethanolaminuria
Childhood-onset Rathburn disease
Childhood-onset spastic paraparesis - distal muscle wasting
CHIME syndrome
CHM
Cholelithiasis with ABCB4 gene mutation
Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Cholesterol ester storage disease
Cholesterol-ester transfer protein deficiency
Cholesteryl ester storage disease
Chondrodysplasia with congenital joint dislocations, CHST3 type
Chondrodysplasia with joint dislocations, gPAPP type
Chondrodysplasia with snail-like pelvis
Chondrodysplasia, Blomstrand type
Chondrodysplasia, Grebe type
Chondrodystrophia calcificans congenita
Chondroectodermal dysplasia
Chondrosarcoma
Chordoma
Chorea-acanthocytosis
Choreoacanthocytosis
Choreoathetosis - hypothyroidism - neonatal respiratory distress
Chorioretinopathy, Birdshot type
Choroideremia
Christ-Siemens-Touraine syndrome
Christianson syndrome
Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Chronic berylliosis
Chronic beryllium disease
Chronic beryllium lung disease
Chronic diarrhea due to guanylate cyclase 2C overactivity
Chronic granulocytic leukemia
Chronic granulomatous disease
Chronic infantile spinal muscular atrophy
Chronic intestinal pseudoobstruction
Chronic mucocutaneous candidiasis
Chronic mucocutaneous candidosis
Chronic myelogenous leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic neuronopathic Gaucher disease
Chronic neutrophilic leukemia
Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis
Chronic respiratory distress with surfactant metabolism deficiency
Chronic septic granulomatosis
Chronic spinal muscular atrophy
CHST14-related EDS
CHST14-related Ehlers-Danlos syndrome
CHST3-related skeletal dysplasia
Chudley-Lowry syndrome
Chudley-Lowry-Hoar syndrome
Chudley-McCullough syndrome
Chuvash erythrocytosis
Chuvash polycythemia
Chylomicron retention disease
CID due to DOCK8 deficiency
CID due to ikaros deficiency
CID due to MAGT1 deficiency
CID due to ORAI1 deficiency
CID due to RAG 1/2 deficiency
CID due to STIM1 deficiency
CID due to STK4 deficiency
CID T+ B+ due to partial RAG1 deficiency
CID with expansion of gamma delta T cells
CIE
CINCA syndrome with NLRP3 mutations
CIPO
Circumscribed cutaneous aplasia of the vertex
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
CISS
Citrullinemia type 2
Citrullinemia type II
CK syndrome
Classic 21-OHD CAH, salt wasting form
Classic 21-OHD CAH, simple virilizing form
Classic Bartter syndrome
Classic BCKD deficiency
Classic branched-chain 2-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria
Classic citrullinemia type 1
Classic citrullinemia type I
Classic CLAH
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 exstrophy of the bladder
Classic galactosemia
Classic GCD
Classic glycine encephalopathy
Classic granular corneal dystrophy
Classic Joubert syndrome
Classic lamellar ichthyosis
Classic lattice corneal dystrophy
Classic leucinosis
Classic maple syrup urine disease
Classic mast cell leukemia
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Classic MmD
Classic MRKH syndrome
Classic MSUD
Classic multiminicore disease
Classic multiminicore myopathy
Classic pantothenate kinase-associated neurodegeneration
Classic Pfeiffer syndrome
Classic phenylketonuria
Classic PKU
classic PMD
Classic Rokitansky syndrome
Classical homocystinuria
Classical phenylketonuria
Classical PKU
Classical progressive supranuclear palsy
Classical PSP
Clear cell adenocarcinoma
Clear cell renal carcinoma
Clear cell renal cell adenocarcinoma
Clear cell renal cell carcinoma
Clear cell sarcoma of soft tissue
Clear cell sarcoma of the tendons and aponeuroses
Cleft lip and/or palate with mucous cysts of lower lip
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft lip/palate-syndactyly-pili torti
Cleft palate - coloboma - deafness
Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysplasia - micrognathia - absent thumbs
Clinical anophthalmia
CLN1 disease
CLN10 disease
CLN11 disease
CLN12 disease
CLN13 disease
CLN2 disease
CLN3 disease
CLN4A disease
CLN4B disease
CLN5 disease
CLN6 disease
CLN7 disease
CLN8 disease
CLN8 disease, Northern epilepsy variant
Clouston syndrome
CLOVE syndrome
Cloverleaf skull - micromelic bone dysplasia
CLPED1
CLS
CLWM
CM-AVM
CMAMMA
CMC
CMD
CMD with cerebellar involvement
CMD with intellectual disability
CMD with intellectual disability and severe epilepsy
CMD without intellectual disability
CMD-CRB
CMD-MR
CMD-no MR
CMD1A
CMDH
CMMR-D syndrome
CMO I
CMO II
CMP-sialic acid transporter deficiency
CMPD-U
CMRD
CMT due to KIF5A mutation
CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT1F
CMT1X
CMT2A1
CMT2A2
CMT2B
CMT2C
CMT2D
CMT2E
CMT2F
CMT2I
CMT2J
CMT2K
CMT2L
CMT2M
CMT2N
CMT2O
CMT2P
CMT2Q
CMT4A
CMT4B1
CMT4B2
CMT4B3
CMT4C
CMT4D
CMT4E
CMT4F
CMT4G
CMT4H
CMT4J
CMT4K
CMT4X
CMT5X
CMT6
CMT6X
CMTDIB
CMTDIC
CMTDID
CMTDIE
CMTDIF
CMTX1
CMTX4
CMTX5
CMTX6
CNM4
COACH syndrome
Coats disease
Coats plus syndrome
Cobblestone lissencephaly without muscular or eye involvement
Cobblestone lissencephaly without muscular or ocular involvement
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Coffin-Lowry syndrome
Coffin-Siris syndrome
COFS syndrome
COG1-CDG
COG4-CDG
COG5-CDG
COG7-CDG
COG8-CDG
Cohen syndrome
Cohen-Hayden syndrome
Cold-induced sweating syndrome
Cole disease
Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual deficit - ear anomalies syndrome
Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities
Coloboma of optic nerve with renal disease
Colobomatous microphthalmia
Color blindness, blue monocone monochromatic type
Colorectal adenomatous polyposis due to monosomy 5q22.2
Comèl-Netherton syndrome
Combined cervical dystonia
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Combined deficiency of factor V and factor VIII
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
Combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to ikaros deficiency
Combined immunodeficiency due to MAGT1 deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to RAG 1/2 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Combined immunodeficiency with hypereosinophilia
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria
Combined oxidative phosphorylation defect type 10
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 16
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 5
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined OXPHOS defect type 10
Combined OXPHOS deficiency type 10
Combined pituitary hormone deficiencies, genetic forms
Combined prosaposin deficiency
Comedo nevus of the palm
Commissural facial cleft
Common aortico-pulmonary trunk
Common arterial trunk
Common variable immunodeficiency
Complement component 3 deficiency
Complete androgen insensitivity syndrome
Complete androgen resistance syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Complete atrioventricular canal type A
Complete atrioventricular canal type B
Complete atrioventricular canal type C
Complete deficiency of methylmalonyl-CoA mutase
Complete growth hormone insensitivity
Complete hydatidiform mole
Complete LCAT deficiency
Complete mevalonate kinase deficiency
Complete molar pregnancy
Complete or incomplete color blindness
Complete situs inversus
Complete situs inversus viscerum
Conductive deafness with stapes fixation
Cone dystrophy
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal scotopic electroretinogram
Cone rod dystrophy
Cone rod dystrophy - amelogenesis imperfecta
Congenital absence of lacrimal puncta and salivary glands
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 adrenal hyperplasia due to cytochrome POR deficiency
Congenital aleukocytosis
Congenital alpha2 antiplasmin deficiency
Congenital alveolar capillary dysplasia
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital anonychia
Congenital anterior megalophthalmia
Congenital atransferrinemia
Congenital benign spinal muscular atrophy with contractures
Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia 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 blindness due to retinal non-attachment
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital cataract - microphthalmia
Congenital cataract - progressive muscular hypotonia - deafness - developmental delay
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay
Congenital cataract microcornea with corneal opacity
Congenital cataract-deafness-severe developmental delay syndrome
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataracts - facial dysmorphism - neuropathy
Congenital central alveolar hypoventilation - Hirschsprung disease
Congenital central alveolar hypoventilation syndrome
Congenital cervical vertebral fusion
Congenital chloride diarrhea
Congenital chronic diarrhea with exudative enteropathy
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 disorder of glycosylation 1g
Congenital disorder of glycosylation 1h
Congenital disorder of glycosylation 1i
Congenital disorder of glycosylation due to PIGL deficiency
Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
Congenital disorder of glycosylation Ig
Congenital disorder of glycosylation Ih
Congenital disorder of glycosylation Ii
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type Ia
Congenital disorder of glycosylation type Ib
Congenital disorder of glycosylation type Ic
Congenital disorder of glycosylation type Id
Congenital disorder of glycosylation type Ie
Congenital disorder of glycosylation type If
Congenital disorder of glycosylation type IIa
Congenital disorder of glycosylation type IIb
Congenital disorder of glycosylation type IId
Congenital disorder of glycosylation type IIe
Congenital disorder of glycosylation type IIf
Congenital disorder of glycosylation type IIg
Congenital disorder of glycosylation type IIh
Congenital disorder of glycosylation type IIi
Congenital disorder of glycosylation type IIj
Congenital disorder of glycosylation type IIm
Congenital disorder of glycosylation type Ij
Congenital disorder of glycosylation type Ik
Congenital disorder of glycosylation type IL
Congenital disorder of glycosylation type Im
Congenital disorder of glycosylation type In
Congenital disorder of glycosylation type Io
Congenital disorder of glycosylation type Ip
Congenital disorder of glycosylation type Ir
Congenital disorder of glycosylation type Is
Congenital disorder of glycosylation type Iu
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 3
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia with thombocytopenia
Congenital enterokinase deficiency
Congenital enteropathy due to enteropeptidase deficiency
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital erythropoietic porphyria
Congenital essential nyctalopia
Congenital estrogen deficiency
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 familial intractable diarrhea with epithelial or epithelium abnormalities
Congenital fiber-type disproportion myopathy
Congenital fibrosis of extraocular muscles
Congenital folate malabsorption
Congenital fused cervical segments
Congenital generalized hypertrichosis, Macias-Flores type
Congenital glaucoma
Congenital Hageman factor deficiency
Congenital hemidysplasia with ichthyosiform nevus and limbs defects
Congenital hereditary endothelial dystrophy type 2
Congenital hereditary endothelial dystrophy type II
Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary facial paralysis with variable hearing loss
Congenital hereditary stromal dystrophy
Congenital high-molecular-weight kininogen deficiency
Congenital hypogonadotropic hypogonadism with anosmia
Congenital hypoplastic anemia, Blackfan-Diamond type
Congenital hypotransferrinemia
Congenital ichthyosis - intellectual deficit - spastic quadriplegia
Congenital ichthyosis - intellectual deficit - spastic tetraplegia
Congenital ichthyosis type 4
Congenital IGHD type IA
Congenital IGHD type IB
Congenital IGHD type II
Congenital insensitivity to pain and thermal analgesia
Congenital intestinal aganglionosis
Congenital intrauterine infection-like syndrome
Congenital intrinsic factor deficiency
Congenital isolated ACTH deficiency
Congenital isolated GH deficiency type IA
Congenital isolated GH deficiency type IB
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type IA
Congenital isolated growth hormone deficiency type IB
Congenital isolated growth hormone deficiency type II
Congenital isolated TBG deficiency
Congenital isolated thyroxine-binding globulin deficiency
Congenital lactase deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Congenital lamellar ichthyosis
Congenital Langerhans cell histiocytosis
Congenital lethal myopathy, Compton-North type
Congenital lipomatosis of pancreas
Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Congenital megaconial myopathy
Congenital mesoblastic nephroma
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital microvillous atrophy
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with hyperlaxity
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 with ITGA7 deficiency
Congenital muscular dystrophy with mitochondrial structural abnormalities
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, Ullrich type
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy - cleft palate - malignant hyperthermia
Congenital myopathy with excess of thin filaments
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy, Paradas type
Congenital myosclerosis, Löwenthal type
Congenital nephrotic syndrome, Finnish type
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital non-bullous ichthyosiform erythroderma
Congenital non-communicating hydrocephalus
Congenital non-obstructive hydrocephalus
Congenital nonprogressive spinal muscular atrophy
Congenital nonprogressive spinocerebellar ataxia
Congenital obstructive hydrocephalus
Congenital PAI-1 deficiency
Congenital pancreatic agenesis
Congenital PAP
Congenital pernicious anemia
Congenital pigmented nevus
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital poikiloderma with bullae, Weary type
Congenital polycythemia due to erythropoietin receptor mutation
Congenital PRCA
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital proconvertin deficiency
Congenital pulmonary alveolar proteinosis
Congenital pure red cell aplasia
Congenital reticular ichthyosiform erythroderma
Congenital retinal detachment
Congenital retinal telangiectasia
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Congenital short bowel syndrome
Congenital sialidosis type 2
Congenital sideroblastic anemia
Congenital sodium diarrhea
Congenital spondyloepiphyseal dysplasia
Congenital stationary night blindness
Congenital stationary night blindness, Oguchi type
Congenital stiff man syndrome
Congenital stromal corneal dystrophy
Congenital Stuart factor deficiency
Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Congenital sucrase-isomaltase deficiency with starch intolerance
Congenital sucrase-isomaltase deficiency without starch intolerance
Congenital sucrase-isomaltase deficiency without sucrose intolerance
Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
Congenital sucrase-isomaltose malabsorption with starch intolerance
Congenital sucrase-isomaltose malabsorption without starch intolerance
Congenital sucrase-isomaltose malabsorption without sucrose intolerance
Congenital sucrose intolerance with minimal starch tolerance
Congenital sucrose intolerance with starch and lactose intolerance
Congenital sucrose intolerance with starch intolerance
Congenital sucrose intolerance without starch intolerance
Congenital sucrose intolerance without sucrose intolerance
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
Congenital tritanopia
Congenital valvular dysplasia
Congenital vertical talus, bilateral
Congenital vertical talus, unilateral
Conjunctivitis lignosa
Conn adenoma with seizures and neurological abnormalities
Connatal PMD
Connective tissue disorder due to LH3 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Conorenal syndrome
Conotruncal anomaly face syndrome
Conradi-Hünermann-Happle syndrome
Constitutional megaloblastic anemia with severe neurologic disease
Constitutional mismatch repair deficiency syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Cooley anemia
Coppock-like cataract
Coralliform cataract
Cori disease
Cori-Forbes disease
Corneal dystrophy - perceptive deafness
Corneal dystrophy Groenouw type I
Corneal dystrophy Groenouw type II
Corneal dystrophy of Bowman layer type I
Corneal dystrophy of Bowman layer type II
Corneal dystrophy with progressive deafness
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Cornelia de Lange syndrome
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Corpus callosum agenesis - cataract - immunodeficiency
Corpus callosum agenesis - neuronopathy
CORS
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysplasia - focal epilepsy syndrome
Cortical hyperostosis - syndactyly
Corticosteroid-binding globulin deficiency
Corticosterone methyloxidase deficiency type I
Corticotropin-independent macronodular adrenal hyperplasia
Costeff optic atrophy syndrome
Costeff syndrome
Costello syndrome
Costovertebral segmentation defect - mesomelia
Cousin syndrome
COVESDEM syndrome
Cowchock syndrome
Cowden disease
Cowden syndrome
Coxo-podo-patellar syndrome
COXPD10
COXPD11
COXPD13
COXPD14
COXPD15
COXPD16
COXPD17
COXPD2
COXPD4
COXPD5
COXPD7
COXPD8
COXPD9
CPD IV
CPPD
CPPDD
CPS1 deficiency
CPT1A deficiency
CPT2, adult-onset form
CPT2, hepatocardiomuscular form
CPT2, lethal systemic form
CPT2, myopathic form
CPT2, neonatal form
CPT2, severe infantile form
CPTII, adult-onset form
CPTII, hepatocardiomuscular form
CPTII, lethal systemic form
CPTII, myopathic form
CPTII, neonatal form
CPTII, severe infantile form
CPVT
CPXD
Cranio-osteoarthropathy
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Craniocerebellocardiac dysplasia
Craniodiaphyseal dysplasia
Cranioectodermal dysplasia
Craniofacial dysmorphism - coloboma - corpus callosum agenesis
Craniofacial dysplasia-osteopenia syndrome
Craniofacial-deafness-hand syndrome
Craniofacial-ulnar-renal syndrome
Craniofrontonasal dysplasia
Craniofrontonasal dysplasia with alopecia and hypogonadism
Craniofrontonasal syndrome
Craniolenticulosutural dysplasia
Craniometaphyseal dysplasia
Craniopharyngioma
Craniorachischisis
Craniosynostosis - midfacial hypoplasia - foot abnormalities
Craniosynostosis and dental anomalies
Craniosynostosis, Boston type
Craniosynostosis, Warman type
CRBM
CRD
Cree leukoencephalopathy
Cri du chat syndrome
CRIE
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crisponi syndrome
Criswick-Schepens syndrome
CRMCC
Crouzon craniofacial dysostosis
Crouzon disease
Crouzon syndrome - acanthosis nigricans
Crouzono-dermoskeletal syndrome
CRTR-D
CRV
CRYAB-related myofobrillar myopathy
Cryptophthalmos-syndactyly syndrome
Cryptosporidiosis - chronic cholangitis - liver disease
Crystalline stromal dystrophy
CSCD
CSID with minimal starch tolerance
CSID with starch and lactose intolerance
CSID with starch intolerance
CSID without starch intolerance
CSID without sucrose intolerance
CSS
CSVT
CSWSS syndrome
CTLN2
CTX
CUD
Curly fiber corneal dystrophy
Currarino disease
Currarino idiopathic osteoarthropathy
Currarino syndrome
Currarino triad
Current pressure-sensitive neuropathy
Curry-Hall syndrome
Cutaneous and mucosal venous malformation
Cutaneous local mastocytoma
Cutaneous mastocytoma
Cutis gyrata - acanthosis nigricans - craniosynostosis
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
CVID
Cyclic neutropenia
CYP11B1 deficiency
Cystathionase deficiency
Cystathione gamma - lyase deficiency
Cystathionine beta-synthase deficiency
Cystathioninuria
Cystic fibrosis
Cystic leukoencephalopathy without megalencephaly
Cystic medial necrosis of aorta
Cystinosis
Cystinuria type A
Cystinuria type B
Cytomegalic congenital adrenal hypoplasia
Czech dysplasia, metatarsal type
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric aciduria
D-2-HGA
D-2-hydroxyglutaric acidemia
D-2-hydroxyglutaric aciduria
D-glycerate dehydrogenase deficiency
D-glycerate kinase deficiency
D-glyceric acidemia
D-glyceric aciduria
D-HUS with anti-factor H antibodies
D-HUS with B factor anomaly
D-HUS with C3 anomaly
D-HUS with DGKE deficiency
D-HUS with H factor anomaly
D-HUS with I factor anomaly
D-HUS with MCP/CD46 anomaly
D-HUS with thrombomodulin anomaly
D4ST1-deficient EDS
D4ST1-deficient Ehlers-Danlos syndrome
DA1
DA1A
DA5D
Danon disease
Darier disease
Darier-Gottron disease
Darier-White disease
Déficit en ACADS
Déficit en Man5GlcNAc2-PP-Dol flippase
DBS/FOAR syndrome
DCMA syndrome
DD-I
DD-II
DDEB, generalized
DDEB, Pasini and Cockayne-Touraine types
DDEB-gen
DDLS
DDON syndrome
DDOST-CDG
De la Chapelle dysplasia
De la Chapelle syndrome
De Morsier syndrome
De Vaal disease
De Vivo disease
Deafness - dystonia - optic neuronopathy syndrome
Deafness - encephaloneuropathy - obesity - valvulopathy
Deafness - intellectual deficit, Martin-Probst type
Deafness - lymphedema - leukemia
Deafness - onycho-osteodystrophy - intellectual deficit
Deafness - onychodystrophy - osteodystrophy - intellectual deficit
Deafness - pili torti - hypogonadism
Deafness - symphalangism syndrome, Hermann type
Deafness - thyroid hormone resistance
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness-infertility syndrome
DEB, acral
DEB, bullous dermolysis of the newborn
DEB, pruriginosa
DEB-ac
DEB-BDN
DEB-na
DEB-Pr
DEB-Pt
Dedifferentiated liposarcoma
Defective adenosine triphosphate-binding cassette transporter A1
Defective biosynthesis of proteodermatan sulfate
Deficiency of complement of terminal pathway
Deficiency of plasma-membrane carnitine transporter
Deficiency of the IL-36R antagonist
Deficiency of the IL-36Ra
Dehydratase deficiency
Dehydrated hereditary stomatocytosis
Dejerine-Sottas syndrome
Dekaban-Arima syndrome
Del(1)(p36)
Del(1)p(21.3)
Del(12)(p12.1)
Del(12)(p13.33)
Del(12)(q14)
Del(13)(q14)
Del(14)(q12)
Del(14)(q22q23)
Del(15)(q13.3)
Del(16)(q24.3)
Del(17)(q11)
Del(17)(q12)
Del(17)(q21.31)
Del(17)(q23.1q23.2)
Del(2)(p21)
Del(2)(p21) without cystinuria
Del(2)(q23.1)
Del(2)(q32)
Del(2)(q32q33)
Del(2)(q33.1)
Del(2)(q37)
Del(20)(p12.3)
Del(5)(q14.3)
Del(6)(q16)
Del(6)(q25)
Del(7)(q31)
Del(8)(p11.2)
Del(8)(p23.1)
Del(8)q(13)
Deletion 11p13
Deletion 12q14
Deletion 13q14 syndrome
Deletion 1p36
Deletion 1pter
Deletion 2q37
Deletion 2q37-qter
Deletion 5p
Deletion 7q11.23
Deletion 8q24.1
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Delta-beta-thalassemia
Delta-sarcoglycanopathy
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
DEND syndrome
Dense deposit disease
Dent disease type 1
Dent disease type 2
Dental ankylosis
Dentatorubral pallidoluysian atrophy
Dentatorubropallidoluysian atrophy
Dentin dysplasia type 1 with microdontia and shape anomalies
Dentin dysplasia type I
Dentin dysplasia type II
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta, Shields type 3
Dentoleukoencephalopathy
Dentritic cell, monocyte, B and NK lymphoid deficiency
Denys-Drash syndrome
Dermatofibrosarcoma protuberans
Dermatopathia pigmentosa reticularis
Dermatostomatitis, Stevens Johnson type
Desbuquois dysplasia
Desbuquois syndrome
Desmin-related myofibrillar myopathy
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
Desmoid tumor
Desmoid type fibromatosis
Desmoplastic small round cell tumor
Desmoplastic/nodular medulloblastoma
Desmosterolosis
Desquamative interstitial pneumonia
Developmental and speech delay due to SOX5 deficiency
Developmental delay - deafness, Hildebrand type
Developmental delay - epilepsy - neonatal diabetes
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
Developmental delay due to ALDH6A1 deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay due to MMSDH deficiency
Developmental delay with ASD and gait instability
Developmental delay with autism spectrum disorder and gait instability
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Developmental malformations - deafness - dystonia
Developmental verbal dyspraxia
Dexamethasone sensitive hypertension
DFNX2
DFSP
DGI-2
DGSX
DHFR deficiency
dHMN with upper motor neuron signs
dHMN2
dHMN5
dHMN5B
dHMN6
dHMN7
DHRD
DI-2
Diabetes - hypogonadism - deafness - intellectual deficit
Diabetes insipidus - diabetes mellitus - optic atrophy - deafness
Diaphanospondylodysostosis
Diaphorase deficiency
Diaphragmatic agenesia
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic spinal muscular atrophy
Diaphyseal dysplasia - anemia
Diaphyseal medullary stenosis - bone malignancy
Diaphyseal medullary stenosis - malignant fibrous histiocytoma
Diarrhea-vomiting due to trehalase deficiency
Diastrophic dwarfism
Diastrophic dysplasia
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
DICER1 syndrome
DIDMOAD syndrome
Diffuse angiokeratoma
Diffuse cutaneous systemic scleroderma
Diffuse cutaneous systemic sclerosis
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse palmoplantar keratoderma with painful fissures
Diffuse panbronchiolitis
DiGeorge sequence
DiGeorge syndrome
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
Digitotalar dysmorphism
Dihydrofolate reductase deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoamide dehydrogenase deficiency
Dihydrolipoyl dehydrogenase deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Dilated cardiomyopathy with ataxia
Dimethylglycine dehydrogenase deficiency
Dionisi-Vici-Sabetta-Gambarara syndrome
DIRA
DIS
Disaccharide intolerance with minimal starch tolerance
Disaccharide intolerance with starch and lactose intolerance
Disaccharide intolerance with starch intolerance
Disaccharide intolerance without starch intolerance
Disaccharide intolerance without sucrose intolerance
Disseminated dermatofibrosis with osteopoikilosis
Disseminated superficial actinic porokeratosis
Distal 15q deletion
Distal 16p11.2 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal 3p deletion
Distal ABD-filaminopathy
Distal anterior compartment myopathy
Distal arthrogryposis type 1
Distal arthrogryposis type 2A
Distal Arthrogryposis type 2B
Distal arthrogryposis type 5
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
Distal arthrogryposis type 5D
Distal arthrogryposis type 7
Distal arthrogryposis type 9
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Distal del(16)(p11.2)
Distal del(17)(p13.3 )
Distal del(22)(q11.2)
Distal deletion 12p
Distal deletion 1q
Distal deletion 4p
Distal dup(X)q(28)
Distal duplication Xq
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 5B
Distal hereditary motor neuropathy type 6
Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy with upper motor neuron signs
Distal monosomy 12p
Distal monosomy 15q
Distal monosomy 16p11.2
Distal monosomy 17p13.3
Distal monosomy 1q
Distal monosomy 22q11.2
Distal monosomy 3p
Distal monosomy 4p
Distal myopathy type 1
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy with rimmed vacuoles
Distal myopathy with vocal cord weakness
Distal myopathy, Markesbery-Griggs type
Distal myopathy, Nonaka type
Distal myopathy, Swedish type
Distal myopathy, Udd type
Distal myopathy, Welander type
Distal renal tubular acidosis with anemia
Distal spinal muscular atrophy type 2
Distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 5
Distal spinal muscular atrophy with vocal cord paralysis
Distal titinopathy
Distal trisomy Xq28
Distal Xq28 microduplication syndrome
DITRA
DK1-CDG
DKC
DLD deficiency
DM1
DMD
DMG dehydrogenase deficiency
DMGDH deficiency
DNA ligase IV deficiency
DOA+
DOCK8 immunodeficiency syndrome
Dol-P-mannosyltransferase deficiency
Dolichol kinase deficiency
Dolichospondylic dysplasia
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Dominant beta-thalassemia
Dominant drusen
Dominant hyaloideoretinal dystrophy of Wagner
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dominant radial drusen
Donnai-Barrow syndrome
Donohue syndrome
DOOR syndrome
Doose syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopamine beta-hydroxylase deficiency
Dorfman-Chanarin disease
DORV
Double A syndrome
Double outlet right ventricle
Double tachycardia induced by catecholamines
Dowling-Degos disease
Doyne honeycomb retinal dystrophy
DPAGT1-CDG
DPM1-CDG
DPM2-CDG
DPM3-CDG
Drash syndrome
Dravet syndrome
DRD autosomique récessive par déficit en sépiaptérine réductase
DRD due to SRD
Dream disease
DRPLA
DRS
dRTA with anemia
dSMA1
dSMA2
dSMA4
dSMA5
DSRCT
DTDP1
DTDP2
Du Pan syndrome
Duane retraction syndrome
Duane syndrome
Duane-radial ray syndrome due to a point mutation
Duane-radial ray syndrome due to monosomy 20q13
Dubin-Johnson syndrome
Dubin-Sprinz disease
Dubowitz syndrome
Duchenne muscular dystrophy
Duncan disease
Dunnigan syndrome
Dup(14)(q11.2)
Dup(17)(p13.3)
Dup(17)(q11.2)
Dup(22)(q11)
Dup(5)(p13)
Dup(5)(q35)
Dup(X)(q27.3q28)
Duplication 22q11.2
DURS
Dusty cataract
Dutch-Kentucky syndrome
Dyggve-Melchior-Clausen disease
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis
Dysequilibrium syndrome
Dysgerminoma of the testis
Dysgerminomatous germ cell tumor of the testis
Dyskeratosis congenita
Dyslipidemia type 3
Dysosteosclerosis
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Dysplastic gangliocytoma of the cerebellum
Dysprothrombinemia
Dyssegmental dysplasia, Silverman-Handmaker type
Dysspondyloenchondromatosis
Dystonia 12
Dystonia 16
Dystonia 18
Dystonia musculorum deformans
Dystonia-parkinsonism, Paisan-Ruiz type
Dystrophic epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
DYT1
DYT11
DYT12
DYT16
DYT18
DYT3
DYT4
DYT5a
DYT5b
DYT6
DYT9
E-beta-thalassemia
E3-deficient maple syrup urine disease
Eagle-Barret syndrome
Ear-patella-short stature syndrome
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression-bursts
Early infantile epileptic encephalopathy without suppression burst
Early myoclonic encephalopathy
Early myoclonic encephalopathy with suppression-bursts
Early onset prion disease with prominent psychiatric features
Early-onset autosomal dominant Alzheimer disease
Early-onset desmin-related myopathy
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
Early-onset dystonia parkinsonism
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Early-onset familial autosomal dominant Alzheimer disease
Early-onset generalized limb-onset dystonia
Early-onset generalized torsion dystonia
Early-onset hypertension with exacerbation in pregnancy
Early-onset Lafora body disease
Early-onset multiple carboxylase deficiency
Early-onset myopathy with fatal cardiomyopathy
Early-onset Parkinson disease
Early-onset primary dystonia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Early-onset severe retinal dystrophy
Early-onset spastic ataxia-neuropathy syndrome
Early-onset torsion dystonia
Early-onset vitelliform macular dystrophy
EAST syndrome
East Texas bleeding disorder
EB progressive
EBJ-I
EBS-AR
EBS-loc
EBS-MD
EBS-migr
EBS-MP
EBS-O
EBS-PA
EBSS
Ebstein anomaly of the tricuspid valve
Ebstein malformation
Eccrine tumors-ectodermal dysplasia
ECO syndrome
Ectasic coloboma
Ectodermal dysplasia - ectrodactyly - macular dystrophy
Ectodermal dysplasia - skin fragility syndrome
Ectodermal dysplasia - syndactyly syndrome
Ectopia lentis syndrome
Ectopic neurohypophysis
Ectrodactyly
Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Eczema-thrombocytopenia-immunodeficiency syndrome
EDA-ID
EDM1
EDM4
EDM5
EDMD1
EDMD3
EDS I
EDS II
EDS III
EDS IV
EDS IX
EDS type 4
EDS VIA
EDS VIIA
EDS VIIB
EDS VIIC
EDS with periventricular heterotopia
EDS with progressive kyphoscoliosis, myopathy, and deafness
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
EDS, arthrogryposic type
EDS, cardiac valvular type
EDS, classic-like type
EDS, Kosho type
EDS, kyphoscoliotic and hearing loss type
EDS, kyphoscoliotic type
EDS, musculocontractural type
EDS, oculoscoliotic type
EDS, progeroid type
EDS, spondylocheirodysplastic type
EDS, vascular-like type
EDS/OI syndrome
EDSS
EDSS1
Edström Myopathy
EEC syndrome
EEM syndrome
EFMR
EHK
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome type 7C
Ehlers-Danlos syndrome type IV
Ehlers-Danlos syndrome type IX
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, arthrogryposic type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic-like type
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, hypermobile type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, Kosho type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, oculoscoliotic type
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, type 9
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos/osteogenesis imperfecta syndrome
EI
EIEE
EIHI
Eiken syndrome
EKV
Electrical status epilepticus during slow sleep
Elejalde disease
Elejalde syndrome
Ellis Van Creveld syndrome
EMAS
Emberger syndrome
Embryonic testicular regression syndrome
Encephaloclastic proliferative vasculopathy
Encephalofacial angiomatosis
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Encephalopathy due to GLUT1 deficiency
Encephalopathy due to hydroxykynureninuria
Encephalopathy due to prosaposin deficiency
Encephalopathy due to urocanase deficiency
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Encephalotrigeminal angiomatosis
Enchondromatosis
Endocrine-cerebro-osteodysplasia syndrome
Endoepithelial corneal dystrophy
Endosteal hyperostosis, Worth type
Enhanced S-cone syndrome
Enlarged parietal foramina
Enteric anendocrinosis
EOE
EOFAD
EOPPC
EOSRD
EOTD
Epidermodysplasia verruciformis
Epidermolysis bullosa letalis
Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex superficialis
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
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, herpetiformis
Epidermolysis bullosa simplex, Köbner type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolytic hyperkeratosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Epidermolytic palmoplantar keratoderma of Vörner
Epidermolytic palmoplantar keratoderma of Voerner
Epilepsy - dementia - amelogenesis imperfecta
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
Epileptic encephalopathy with continuous spike-and-wave during sleep
Epileptic encephalopathy with global cerebral demyelination
Episkopi blindness
Episodic ataxia type 1
Episodic ataxia type 2
Episodic ataxia type 5
Episodic ataxia type 6
Episodic ataxia with myokymia
Episodic choreoathetosis/spasticity
Epithelioma calcificans of Malherbe
EPP
EPPK
Erdheim disease
Erythremia
Erythrocyte epimerase deficiency galactosemia
Erythrocyte galactose epimerase deficiency
Erythrocyte GALE deficiency
Erythrocyte GALE-D
Erythrocyte lactate transporter defect
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
Erythrodermic ichthyosis
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 3
Erythrokeratodermia variabilis, Kamouraska type
Erythrokeratodermia variabilis, Mendes da Costa type
Erythromelalgia
Erythropoietic protoporphyria
Escobar syndrome
Escobar variant multiple pterygium syndrome
ESES
ESS1
Essential fructosuria
Essential pentosuria
Essential thrombocythemia
Essential thrombocytosis
Estrogen resistance syndrome
ET
Ethylmalonic encephalopathy
ETRS
EVMPS
Ewing sarcoma
Exercise-induced delayed-onset myotonia
Exercise-induced hyperinsulinemic hypoglycemia
Exercise-induced hyperinsulinism
Exfoliative ichthyosis
EXT1/EXT2-CDG
External auditory canal aplasia/hypoplasia
External auditory canal stenosis/atresia
Extra-ovarian primary peritoneal carcinoma
Extranodal marginal zone B-cell lymphoma
Extraosseous Ewing sarcoma
Extraosseous Ewing tumor
Extraskeletal Ewing sarcoma
Extraskeletal Ewing tumor
Extraskeletal myxoid chondrosarcoma
F5F8D
FA
Fabry disease
Facial dysmorphism - immunodeficiency - livedo - short stature
Facial dysmorphism - intellectual deficit - short stature - hearing loss
Facio-audio-symphalangism
Facio-genito-popliteal syndrome
Facio-oculo-acoustico-renal syndrome
Faciocutaneoskeletal syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
Facioscapulohumeral dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Factor V Quebec
FACU
FADD-related immunodeficiency
FADS
FAH deficiency
FAHN
Faisalabad histiocytosis
FAME
Familial abdominal aortic aneurysm
Familial acoustic neurinoma
Familial acoustic neuroma
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial adult myoclonic epilepsy
Familial advanced sleep-phase syndrome
Familial afibrinogenemia
Familial Alzheimer disease
Familial Alzheimer-like prion disease
Familial AML
Familial amyloid nephropathy due to apolipoprotein AI variant
Familial amyloid nephropathy due to apolipoprotein AII variant
Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
Familial amyloid nephropathy due to lysozyme variant
Familial amyloid polyneuropathy
Familial amyloid polyneuropathy type 4
Familial amyloidosis, Finnish type
Familial aortic dissection
Familial apoA-I deficiency
Familial apoC-II deficiency
Familial apolipoprotein C-II deficiency
Familial articular chondrocalcinosis
Familial atrial fibrillation
Familial atrial myxoma
Familial atypical cold urticaria
Familial avascular necrosis of femoral head
Familial benign chronic pemphigus
Familial benign flecked retina
Familial berry aneurysm
Familial brain cavernous angioma
Familial brain cavernous hemangioma
Familial breast cancer
Familial breast carcinoma
Familial capillary hemangioma
Familial caudal dysgenesis
Familial CD8 deficiency
Familial cerebelloretinal angiomatosis
Familial cerebral cavernoma
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 autoinflammatory syndrome
Familial cold autoinflammatory syndrome type 2
Familial cold urticaria
Familial cold urticaria with common variable immunodeficiency
Familial congenital controlateral synkinesia
Familial congenital hypopituitarism
Familial congenital mirror movements
Familial congenital palsy of trochlear nerve
Familial cortical myoclonic tremor and epilepsy
Familial cortical myoclonus
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial cylindromatosis
Familial dementia, British type
Familial dementia, Danish type
Familial digital arthropathy-brachydactyly
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial drusen
Familial dysautonomia
Familial dysautonomia with contractures
Familial dysbetalipoproteinemia
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial ectopia lentis
Familial ectopic ossification
Familial encephalopathy with neuroserpin inclusion bodies
Familial epilepsy and mental retardation limited to females
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial erythrocytosis
Familial expansile osteolysis
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial gastric cancer
Familial gestational hyperthyroidism
Familial glucocorticoid deficiency
Familial gonadotropin-independent male-limited sexual precocity
Familial hemophagocytic lymphohistiocytosis
Familial hibernian fever
Familial HLH
Familial hollow visceral myopathy
Familial hyperaldosteronism type 1
Familial hyperaldosteronism type 3
Familial hyperalphalipoproteinemia
Familial hypercholanemia
Familial hyperchylomicronemia
Familial hyperestrogenism
Familial hyperkalemic periodic paralysis
Familial hyperlipoproteinemia type 3
Familial hyperPP
Familial hyperreninemic hypoaldosteronism type 1
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypertriglyceridemia
Familial hypoalphalipoproteinemia
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial hypospadias
Familial IBSN
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial infantile bilateral striatal necrosis
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Familial infantile myoclonic epilepsy
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Familial intestinal polyatresia syndrome
Familial intracranial saccular aneurysm
Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, classic 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 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 vitamin E deficiency
Familial juvenile gouty nephropathy
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 2
Familial lambdoid synostosis
Familial LCAT deficiency
Familial leiomyomatosis
Familial leiomyomatosis with renal carcinoma
Familial leiomyomatosis with renal cell cancer
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial lipoprotein lipase deficiency
Familial male-limited precocious puberty
Familial Mediterranean fever
Familial medullary thyroid carcinoma
Familial megaloblastic anemia
Familial melanoma
Familial mesial temporal lobe epilepsy with febrile seizures
Familial MNG
Familial MTC
Familial multinodular goiter
Familial multiple coagulation factor deficiency
Familial multiple cutaneous leiomyomas
Familial multiple lentigines syndrome
Familial multiple meningioma
Familial multiple nevi flammei
Familial multiple port-wine stains
Familial multiple trichoepithelioma
Familial nephropathy with gout
Familial non-immune hyperthyroidism
Familial nonpolyposis colon cancer
Familial nonpolyposis colorectal cancer
Familial ocular anterior segment mesenchymal dysgenesis
Familial or idiopathic dilated cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
Familial or sporadic hemiplegic migraine
Familial osteochondritis dissecans
Familial osteoectasia
Familial osteonecrosis of the femoral head
Familial pancreatic cancer
Familial pancreatic carcinoma
Familial papillary renal cell carcinoma
Familial parathyroid adenoma
Familial Parkinson disease
Familial paroxysmal ataxia
Familial paroxysmal kinesigenic dyskinesia
Familial paroxysmal polyserositis
Familial paroxysmal ventricular fibrillation, not Brugada type
Familial partial epilepsy with variable foci
Familial partial lipodystrophy associated with PLIN1 mutations
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations
Familial partial lipodystrophy type 1
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 3
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial PCCD
Familial pelvis-scapular dysplasia
Familial pheochromocytoma-paraganglioma
Familial PKD
Familial platelet disorder with associated myeloid malignancy
Familial platelet syndrome
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial polyposis coli due to monosomy 5q22.2
Familial porencephaly
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Familial primary localized cutaneous amyloidosis
Familial progressive cardiac conduction defect
Familial progressive heart block
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
Familial prostate cancer
Familial pulmonary arterial hypertension
Familial pyrimidinemia
Familial rectal pain
Familial recurrent arthritis
Familial renal amyloidosis due to Apolipoprotein AI variant
Familial renal amyloidosis due to Apolipoprotein AII variant
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Familial renal amyloidosis due to lysozyme variant
Familial renal cell carcinoma
Familial renal glucosuria
Familial retinal arterial macroaneurysm
Familial retinoblastoma
Familial rhabdoid tumor
Familial Rosaï-Dorfman disease
Familial scaphocephaly syndrome, McGillivray type
Familial SHML
Familial short QT syndrome
Familial sick sinus syndrome
Familial sinus histiocytosis with massive lymphadenopathy
Familial sinus node dysfunction
Familial SLE
Familial spontaneous pneumothorax
Familial startle disease
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial stomach cancer
Familial systemic lupus erythematosus
Familial TAAD
Familial thoracic aortic aneurysm and aortic dissection
Familial thrombocythemia
Familial thrombocytosis
Familial thrombocytosis with transverse limb defect
Familial thrombomodulin anomalies
Familial thyroid dyshormonogenesis
Familial vascular leukoencephalopathy
Familial vesicoureteral reflux
Familial vestibular schwannoma
Familial visceral myopathy
Familial VUR
Familial woolly hair syndrome
Familial wooly hair syndrome
Fanconi anemia
Fanconi pancytopenia
Fanconi-Bickel disease
FAP due to monosomy 5q22.2
Fara-Chlupackova syndrome
Farber disease
Farber lipogranulomatosis
FAS deficiency
FASPS
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal familial insomnia
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Fatal infantile COX deficiency
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile encephalopathy with mitochondrial respiratory chain defects
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Fatal infantile HCM due to mitochondrial complex I deficiency
Fatal infantile hypertonic myofibrillar myopathy
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Fatal multiple mitochondrial dysfunction syndrome
Fatal multiple mitochondrial dysfunction syndrome type 3
Fatal post-viral neurodegenerative disorder
Fatty acid alcohol oxidoreductase deficiency
Fatty acid hydroxylase-associated neurodegeneration
FCAS
FCAS1
FCAS2
FCD
FCD type IIb
FCMTE
FCS syndrome
FCU
FD
FDFM
FECD
FED
Fehr corneal dystrophy
Feingold syndrome type 1
Feingold syndrome type 2
Fellman disease
Female restricted epilepsy with intellectual deficit
FENIB
FEOM
Ferritin-related neurodegeneration
Ferroportin disease
Fetal akinesia deformation sequence
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal dihydantoin syndrome
Fetal Gaucher disease
Fetal hydantoin syndrome
Fetal-onset olivopontocerebellar hypoplasia
FEVR
FFDD type I
FFEVF
FG syndrome type 1
FGFR2-related bent bone dysplasia
FGLDS1
FGLDS2
FH1
FHC
FHH type 1
FHH type 2
FHH type 3
FHHA1
FHHNC with severe ocular involvement
FHHNC without severe ocular involvement
Fibrin-stabilizing factor deficiency
Fibrinogen A alpha-chain amyloidosis
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrofolliculomas with trichodiscomas and acrochordons
Fibromyxosarcoma
Fibronectin glomerulopathy
Fibrosarcoma
Fibular aplasia - complex brachydactyly
Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
FIC1 deficiency
FIHPT
FILS syndrome
FIME
Finkel disease
Finlay-Marks syndrome
Finnish congenital nephrosis
FIPA
Fish-eye disease
FJHN type 1
FJHN type 2
FLD
Fleck corneal dystrophy
Floating-Harbor syndrome
Fluctuating myotonia
FMF
FMNG
FMPP
Foamy myocardial transformation of infancy
FOAR syndrome
Focal dermal hypoplasia
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation
Focal epilepsy - intellectual deficit - dysarthria - ataxia
Focal facial dermal dysplasia
Focal palmoplantar keratoderma with joint keratoses
Follicular lymphoma
Follicular stimulating hormone-resistant ovaries
Foot contractures - muscle atrophy - oculomotor apraxia
FOP
Foramina parietalia permagna
Forbes disease
Formiminoglutamic aciduria
Formiminotransferase cyclodeaminase deficiency
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
Foveal hypoplasia - presenile cataract
Fowler syndrome
FPAH
FPD/AML syndrome
FPHH
FPLCA
FPLD1
FPLD2
FPLD3
FPS/AML syndrome
FRA
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
FRAM
François-Neetens speckled corneal dystrophy
Franceschetti-Klein syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
FraX syndrome
FRAXA syndrome
FRAXE intellectual deficit
FRAXF syndrome
FRDA
Free sialic acid storage disease, infantile form
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome variant
French-Canadian type COX deficiency
French-Canadian type cytochrome C oxidase deficiency
French-Canadian type Leigh syndrome
Fried syndrome
Friedreich ataxia
Friedreich-like ataxia
Frontometaphyseal dysplasia
Frontonasal dysplasia with alopecia and genital abnomality
Frontonasal dysplasia with alopecia and genital anomaly
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontotemporal dementia with amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease
Fructokinase deficiency
Fructose-1,6-bisphosphatase deficiency
FS1
FS2
FSH dystrophy
FSH-RO
FSHD
FTCD deficiency
FTD-ALS
FTD-MND
FTH1-associated iron overload
FTH1-related iron overload
Fuchs endothelial corneal dystrophy
Fucosidosis
Fuhrmann syndrome
Fuhrmann-Rieger-de Sousa syndrome
Fukuhara syndrome
Fumarase deficiency
Fumaric aciduria
Fumaryl acetoacetase deficiency
Fumaryl acetoacetate hydrolase deficiency
Functional methionine synthase deficiency type cblDv1
Functional methionine synthase deficiency type cblE
Functional methionine synthase deficiency type cblG
Fundus albipunctatus
Fundus flavimaculatus
Fusion of metacarpals 4 and 5
FV and FVIII combined deficiency
FXS
FXTAS syndrome
G6P deficiency type a
G6P deficiency type b
G6P translocase deficiency
G6PT deficiency
GA1
GABA transaminase deficiency
GABEB
Galactokinase deficiency
Galactokinase deficiency galactosemia
Galactosamine-6-sulfatase deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
Galactosemia type 2
Galactosialidosis
Galactosyltransferase I deficiency
GALK deficiency
GALK-D
GALNS deficiency
GALNT3-CDG
GALT deficiency
Gamma-aminobutyric acid transaminase deficiency
Gamma-cystathionase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Gamma-sarcoglycanopathy
Gamstorp disease
Gamstorp episodic adynamy
GAMT deficiency
GAPO syndrome
Gardner syndrome
Gass disease
Gastric intrinsic factor deficiency
Gastric linitis plastica
Gastrinoma
Gastrointestinal stromal tumor
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher disease type 3C
Gaucher disease, subacute neuronopathic type
Gaucher-like disease
Gélineau disease
Günther disease
GBE deficiency, adult neuromuscular form
GBE deficiency, childhood combined hepatic and myopathic form
GBE deficiency, childhood neuromuscular form
GBE deficiency, congenital neuromuscular form
GBE deficiency, fatal perinatal neuromuscular form
GBE deficiency, non progressive hepatic form
GBE deficiency, progressive hepatic form
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
GCD1
GCD2
GCDHD
GCDI
GCDII
GCL
GCL4
GCPS
GCS1-CDG
GDCD
GDD
GDE deficiency
GEFS+
Gelatinous drop-like corneal dystrophy
Geleophysic dwarfism
Geleophysic dysplasia
Gelsolin amyloidosis
Gemss syndrome
Generalized arterial calcification of infancy
Generalized atrophic benign epidermolysis bullosa
Generalized cervical and upper-limb-onset dystonia
Generalized congenital lipodystrophy
Generalized congenital lipodystrophy type 4
Generalized congenital lipodystrophy with myopathy
Generalized deciduous skin type A
Generalized deciduous skin type B
Generalized dominant dystrophic epidermolysis bullosa
Generalized EBS, non-Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Generalized epilepsy - paroxysmal dyskinesia
Generalized epilepsy with febrile seizures-plus context
Generalized epimerase deficiency galactosemia
Generalized galactose epimerase deficiency
Generalized GALE deficiency
Generalized GALE-D
Generalized hematopoietic hypoplasia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Generalized juvenile polyposis/juvenile polyposis coli
Generalized mitis RDEB
Generalized peeling skin syndrome type A
Generalized peeling skin syndrome type B
Generalized pseudohypoaldosteronism type 1
Generalized pustular psoriasis
Generalized resistance to thyroid hormone
Generalized UDP-galactose-4-epimerase deficiency
Generalized uridine diphosphate galactose-4-epimerase deficiency
Genetic hyperferritinemia without iron overload
Genetic recurrent myoglobinuria
Genetic transient congenital hypothyroidism
Genitopatellar syndrome
Gentile syndrome
Geographic corneal dystrophy
GEPD
Geroderma osteodysplastica
Gerstmann-Straussler-Scheinker syndrome
GFND
GH receptor deficiency
Ghosal hematodiaphyseal dysplasia
Ghosal syndrome
Giant axonal neuropathy
Giant cell arteritis
Giant cell chondrodysplasia
Giant cell glioblastoma
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
Giant platelet syndrome
Gillespie syndrome
GIST
GIST-paraganglioma dyad
Gitelman syndrome
Glanzmann thrombasthenia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Gliosarcoma
Globodontia
Globozoospermia
Glomangiomatosis
Glomerulopathy with fibronectin deposits
Glomuvenous malformation
Gloomy face syndrome
GLRX5-related sideroblastic anemia
Glucocorticoid resistance
Glucocorticoid sensitive hypertension
Glucocorticoid-remediable aldosteronism
Glucosamine N-acetyl-6-sulfatase deficiency
Glucose transporter type 1 deficiency
Glucose-galactose malabsorption
Glucosidase 1 deficiency
Glucosyltransferase 1 deficiency
Glucosyltransferase 2 deficiency
Glut-1 deficiency Syndrome
Glut1-DS
Glutamate decarboxylase deficiency
Glutamate formiminotransferase deficiency
Glutamate-cysteine ligase deficiency
Glutaric acidemia type 1
Glutaric acidemia type 3
Glutaric aciduria type 1
Glutaric aciduria type 3
Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA oxidase deficiency
Glutaryl-coenzyme A dehydrogenase deficiency
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glutathionuria
Glycerol kinase deficiency, adult form
Glycerol kinase deficiency, infantile form
Glycerol kinase deficiency, juvenile form
Glycine cleavage system L protein deficiency
Glycine N-methyltransferase deficiency
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, juvenile onset
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to G6P deficiency type a
Glycogen storage disease due to G6P deficiency type b
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Glycogen storage disease due to glucose-6-phosphatase deficiency type b
Glycogen storage disease due to GLUT2 deficiency
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 glycogenin 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 LAMP-2 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 glycogen synthase 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 phosphoglucomutase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease type 0a
Glycogen storage disease type 0b
Glycogen storage disease type 11
Glycogen storage disease type 12
Glycogen storage disease type 14
Glycogen storage disease type 15
Glycogen storage disease type 1a
Glycogen storage disease type 1b
Glycogen storage disease type 2, adult onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type 2, juvenile onset
Glycogen storage disease type 3
Glycogen storage disease type 4, adult neuromuscular form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogen storage disease type 4, non progressive hepatic form
Glycogen storage disease type 4, progressive hepatic form
Glycogen storage disease type 5
Glycogen storage disease type 6B
Glycogen storage disease type 7
Glycogen storage disease type 9A
Glycogen storage disease type 9B
Glycogen storage disease type 9C
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXa
Glycogen storage disease type IXb
Glycogen storage disease type IXc
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogen storage disease type XV
Glycogenosis due to acid maltase deficiency, adult onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis due to acid maltase deficiency, juvenile onset
Glycogenosis due to aldolase A deficiency
Glycogenosis due to glucose-6-phosphatase deficiency type a
Glycogenosis due to glucose-6-phosphatase deficiency type b
Glycogenosis due to glucose-6-phosphatase transport defect
Glycogenosis due to GLUT2 deficiency
Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis due to glycogenin deficiency
Glycogenosis due to lactate dehydrogenase H-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to LAMP-2 deficiency
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogenosis due to muscle beta-enolase deficiency
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis due to phosphoglucomutase deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate mutase deficiency
Glycogenosis type 0a
Glycogenosis type 0b
Glycogenosis type 11
Glycogenosis type 12
Glycogenosis type 13
Glycogenosis type 14
Glycogenosis type 15
Glycogenosis type 2, adult onset
Glycogenosis type 2, infantile onset
Glycogenosis type 2, juvenile onset
Glycogenosis type 3
Glycogenosis type 4, adult neuromuscular form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogenosis type 4, fatal perinatal neuromuscular form
Glycogenosis type 4, non progressive hepatic form
Glycogenosis type 4, progressive hepatic form
Glycogenosis type 5
Glycogenosis type 6B
Glycogenosis type 7
Glycogenosis type 9A
Glycogenosis type 9B
Glycogenosis type 9C
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type Ia
Glycogenosis type Ib
Glycogenosis type IXa
Glycogenosis type IXb
Glycogenosis type IXc
Glycogenosis type IXd
Glycogenosis type IXe
Glycogenosis type XV
Glycolic aciduria
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM2-gangliosidosis, AB variant
GM2-gangliosidosis, B variant, adult form
GM2-gangliosidosis, B variant, infantile form
GM2-gangliosidosis, B variant, juvenile form
GM2-gangliosidosis, B1 variant
GMN
Gnathodiaphyseal dysplasia
GNS deficiency
Goiter - deafness
Golabi-Rosen syndrome
Goldberg syndrome
Goldberg-Shprintzen megacolon syndrome
Goldmann-Favre syndrome
Goldston syndrome
Goltz syndrome
Goltz-Gorlin syndrome
Gonadotropic deficiency
Gonadotropin-independent female-limited sexual precocity
Gorlin syndrome
GOSHS
Gottron syndrome
GPA
gPAPP deficiency
GPP
GPS
GRA
Gracile bone dysplasia
GRACILE syndrome
Graham Little syndrome
Graham Little-Piccardi-Lassueur syndrome
Graham-Cox syndrome
Grand-Kaine-Fulling syndrome
Granular corneal dystrophy type 1
Granular corneal dystrophy type 2
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Granular corneal dystrophy type III
Granular-lattice corneal dystrophy
Granulomatosis with polyangiitis
Gravidic intrahepatic cholestasis
Gray platelet syndrome
Gräsbeck-Imerslund disease
Green jaundice
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Greither disease
Grisart-Destrée syndrome
Griscelli disease type 1
Griscelli disease type 2
Griscelli disease type 3
Griscelli-Pruniéras syndrome type 1
Griscelli-Pruniéras syndrome type 2
Griscelli-Pruniéras syndrome type 3
Gronblad-Strandberg-Touraine syndrome
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth delay - alopecia - pseudoanodontia - optic atrophy
Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Growth delay - deafness- intellectual deficit
Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth hormone receptor deficiency
Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
Growth retardation-mild developmental delay-chronic hepatitis syndrome
GSD due to acid maltase deficiency, adult onset
GSD due to acid maltase deficiency, infantile onset
GSD due to acid maltase deficiency, juvenile onset
GSD due to aldolase A deficiency
GSD due to G6P deficiency type a
GSD due to G6P deficiency type b
GSD due to G6PT deficiency
GSD due to GLUT2 deficiency
GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
GSD due to glycogen branching enzyme deficiency, progressive hepatic form
GSD due to glycogen debranching enzyme deficiency
GSD due to glycogenin deficiency
GSD due to hepatic glycogen synthase deficiency
GSD due to lactate dehydrogenase H-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
GSD due to LAMP-2 deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
GSD due to liver glycogen phosphorylase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD due to muscle and heart glycogen synthase deficiency
GSD due to muscle beta-enolase deficiency
GSD due to muscle glycogen phosphorylase deficiency
GSD due to muscle phosphofructokinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD due to phosphoglucomutase deficiency
GSD due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate mutase deficiency
GSD type 0a
GSD type 0b
GSD type 1 non a
GSD type 11
GSD type 12
GSD type 14
GSD type 15
GSD type 1a
GSD type 1b
GSD type 2, adulte onset
GSD type 2, infantile onset
GSD type 2, juvenile onset
GSD type 3
GSD type 4, adult neuromuscular form
GSD type 4, childhood combined hepatic and myopathic form
GSD type 4, childhood neuromuscular form
GSD type 4, congenital neuromuscular form
GSD type 4, fatal perinatal neuromuscular form
GSD type 4, non progressive hepatic form
GSD type 4, progressive hepatic form
GSD type 5
GSD type 6B
GSD type 7
GSD type 9A
GSD type 9B
GSD type 9C
GSD type 9D
GSD type 9E
GSD type IXa
GSD type IXb
GSD type IXc
GSD type IXd
GSD type IXe
GSD type XV
GSDIa
GSDIb
GSDIII
GSDIV, adult neuromuscular form
GSDIV, childhood combined hepatic and myopathic form
GSDIV, childhood neuromuscular form
GSDIV, congenital neuromuscular form
GSDIV, fatal perinatal neuromuscular form
GSDIV, non progressive hepatic form
GSDIV, progressive hepatic form
GSDXIII
GSDXIV
GTP cyclohydrolase I deficiency
GTPCH deficiency
GTPCH1-deficient dopa-responsive dystonia
GTPCH1-deficient DRD
Guam disease
Guanidinoacetate methyltransferase deficiency
Guibaud-Vainsel syndrome
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
Guttate hypopigmentation and punctate palmoplantar keratoderma
Guttmacher syndrome
Gyrate atrophy of choroid and retina
H syndrome
H-ABC
Haddad syndrome
HADH deficiency
HAE 2
HAE 3
HAE-I
HAE-II
HAE-III
Hailey-Hailey disease
Haim-Munk syndrome
Hair-nail ectodermal dysplasia
Hairy cell leukemia
Hajdu-Cheney syndrome
Hall-Hittner syndrome
HAM syndrome
Hamamy syndrome
Hamartomatous intestinal polyposis
Hamel cerebro-palato-cardiac syndrome
HANAC syndrome
Hand-foot-genital syndrome
Hand-foot-uterus syndrome
Hanot syndrome
Harboyan syndrome
HARD syndrome
Hardcastle syndrome
Harlequin ichthyosis
Hartnup disorder
Hartnup syndrome
Hartsfield-Bixler-Demyer syndrome
Hashimoto-Pritzker syndrome
Hawkinsinuria
Hay-Wells syndrome
Hb Bart's hydrops fetalis
HbC - beta-thalassemia
HbE - beta-thalassemia
HbH disease
HbLepore - beta-thalassemia
HbS - beta-thalassemia
HbSC disease
HbSD disease
HbSE disease
HBSL
HCHWA, Arctic type
HCHWA, Dutch type
HCHWA, Flemish type
HCHWA, Icelandic type
HCHWA, Iowa type
HCHWA, Italian type
HCHWA, Piedmont type
HCHWA-D
HCL
HCS
HDL1
HDL2
HDL4
HDLS
HDR syndrome
Head and neck squamous cell carcinoma
Hearing loss - encephaloneuropathy - obesity - valvulopathy
Heart-hand syndrome type 1
Heart-hand syndrome, Slovenian type
Hecht syndrome
Hecht-Beals syndrome
HED-ID
Heinz body anemia
Helicoid peripapillary chorioretinal degeneration
Hemi 3 syndrome
Hemicorporal hypertrophy
Hemihypertrophy
Hemimegalencephaly
Hemochromatosis due to defect in ferroportin
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin Bart's hydrops fetalis
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin H disease
Hemoglobin Lepore - beta-thalassemia
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 without diarrhea with anti-factor H antibodies
Hemolytic-uremic syndrome without diarrhea with B factor anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
Hemolytic-uremic syndrome without diarrhea with H factor anomaly
Hemolytic-uremic syndrome without diarrhea with I factor anomaly
Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly
Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
Hemophilia C
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hemorrhagiparous thrombocytic dystrophy
Hennekam syndrome
HEP
Heparan sulfamidase deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Hepatic veno-occlusive disease - immunodeficiency
Hepatocellular carcinoma, childhood-onset
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Hepatoencephalopathy due to COXPD1
Hepatoerythropoietic porphyria
Hepatolenticular degeneration
Hepatorenal tyrosinemia
Hereditary acrokeratotic poikiloderma, Weary type
Hereditary amyloid nephropathy due to apolipoprotein AI variant
Hereditary amyloid nephropathy due to Apolipoprotein AII variant
Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary amyloid nephropathy due to lysozyme variant
Hereditary amyloidosis, Finnish type
Hereditary angioedema type 1
Hereditary angioedema type 2
Hereditary angioedema type 3
Hereditary angioneurotic edema type 1
Hereditary angioneurotic edema type 2
Hereditary angioneurotic edema type 3
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
Hereditary arterial and articular multiple calcification syndrome
Hereditary benign chorea
Hereditary brain cavernous angioma
Hereditary brain cavernous hemangioma
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary breast carcinoma
Hereditary bundle branch defect
Hereditary CDI
Hereditary central diabetes insipidus
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary ceruloplasmin deficiency
Hereditary chronic pancreatitis
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Hereditary clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to PITX1 point mutation
Hereditary combined deficiency of factors II, VII, IX and X
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary cranium bifidum
Hereditary cryohydrocytosis type 2
Hereditary cryohydrocytosis with reduced stomatin
Hereditary crystalline stromal dystrophy of Schnyder
Hereditary cystatin C amyloid angiopathy
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
Hereditary essential myoclonus
Hereditary expansile polyostotic osteolytic dysplasia
Hereditary ferritinopathy
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
Hereditary gingival fibromatosis
Hereditary gingival hyperplasia
Hereditary hemorrhagic telangiectasia
Hereditary hollow visceral myopathy
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hypercholanemia
Hereditary hyperekplexia
Hereditary hyperexplexia
Hereditary hyperferritinemia with congenital cataracts
Hereditary hyperferritinemia-cataract syndrome
Hereditary hyperphosphatasia
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypotrichosis simplex
Hereditary hypotrichosis simplex of the scalp
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Hereditary inclusion body myopathy type 2
Hereditary inclusion body myopathy type 3
Hereditary inclusion body myopathy with early respiratory failure
Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency
Hereditary keratitis
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary leiomyomatosis with renal cell cancer
Hereditary lymphedema type I
Hereditary methemoglobinemia due to hemoglobin mutation
Hereditary mixed polyposis syndrome
Hereditary motor and sensory neuropathy type 3
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary motor and sensory neuropathy, Lom type
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type
Hereditary motor and sensory neuropathy, Russe Type
Hereditary mucosal leukokeratosis
Hereditary multi-infarct dementia
Hereditary multiple cutaneous leiomyomas
Hereditary multiple glomangiomas
Hereditary myoclonus - progressive distal muscular atrophy
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neurogenic diabetes insipidus
Hereditary neuropathy with liability to pressure palsies
Hereditary neutrophilia
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal cancer
Hereditary North American Indian childhood cirrhosis
Hereditary ochronosis
Hereditary orotic aciduria
Hereditary Parkinson disease
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hereditary pheochromocytoma-paraganglioma
Hereditary prepubertal gynecomastia
Hereditary progressive dystonia with marked diurnal fluctuation
Hereditary proximal myopathy with early respiratory failure
Hereditary pulmonary arterial hypertension
Hereditary renal amyloidosis due to apolipoprotein AI variant
Hereditary renal amyloidosis due to apolipoprotein AII variant
Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
Hereditary renal amyloidosis due to lysozyme variant
Hereditary renal hypouricemia
Hereditary retinoblastoma
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 3
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 with hyperhidrosis and gastrointestinal dysfunction
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hereditary site-specific ovarian cancer syndrome
Hereditary spastic paraparesis type 15
Hereditary spherocytosis
Hereditary symmetrical aplastic nevi of temples
Hereditary thrombocythemia
Hereditary thrombocytosis with transverse limb defect
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary thrombophilia due to congenital HRG deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to PC deficiency
Hereditary unconjugated hyperbilirubinemia type 1
Hereditary unconjugated hyperbilirubinemia type 2
Hereditary vascular retinopathy
Hereditary vascular retinopathy - Raynaud phenomenon - migraine
Hereditary vitamin D-resistant rickets
Hereditary whispering dysphonia
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Hereditary xerocytosis
Heredopathia atactica polyneuritiformis
Heritable pulmonary arterial hypertension
Hermansky-Pudlak syndrome type 2
Hermansky-Pudlak syndrome type 7
Hermansky-Pudlak syndrome type 8
Hermansky-Pudlak syndrome type 9
Hermansky-Pudlak syndrome with neutropenia
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis
HERNS syndrome
Herpes simplex encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
Hers disease
Herva disease
Heterozygous microdeletion 17p11.2p12
Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Hexosaminidase A deficiency, adult form
Hexosaminidase A deficiency, B1 variant
Hexosaminidase A deficiency, infantile form
Hexosaminidase A deficiency, juvenile form
Hexosaminidase activator deficiency
Hexosaminidases A and B deficiency, adult form
Hexosaminidases A and B deficiency, infantile form
Hexosaminidases A and B deficiency, juvenile form
HFGS
HGPPS
HGSNAT deficiency
HHCS
HHH syndrome
HHRH
HHT
HI
HI/HA syndrome
HIBM-ERF
HIBM2
HIBM3
Hidrotic ectodermal dysplasia
HIDS
High bone mass OI
High bone mass osteogenesis imperfecta
High myopia-sensorineural deafness syndrome
High-grade ependymoma
HIGM1
HIGM2
HIGM3
HIGM5
Hippel-Lindau disease
Hirayama disease
Hirschsprung disease
Hirschsprung disease and intellectual deficit due to 2q22 microdeletion
Hirschsprung disease and intellectual deficit due to a point mutation
Hirschsprung disease and intellectual deficit due to del(2)(q22)
Hirschsprung disease and intellectual deficit due to monosomy 2q22
Histidase deficiency
Histidinemia
Histidinuria
Histiocytoid cardiomyopathy
HJMD
HLA class 2-negative severe combined immunodeficiency
HLP type 3
HLRCC
HMG-CoA synthase deficiency
HMSN 3
HMSN 4
HMSN 5
HMSN, Lom type
HMSNP
HMSNR
HNED
HNPCC
HNPP
HNSCC
HoFH
HOGA
Holmes-Gang syndrome
Holmes-Schepens syndrome
Holocarboxylase synthetase deficiency
Holoprosencephaly - ectrodactyly - cleft lip palate
Holt-Oram syndrome
HOMG1
HOMG2
HOMG3
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homogentisic acid oxidase deficiency
Homozygous alpha0-thalassemia
Homozygous familial hypercholesterolemia
Homozygous familial hypobetalipoproteinemia
Honey-droplet corneal dystrophy
Honeycomb corneal dystrophy
Horizontal gaze palsy with progressive scoliosis
Horton disease
HOS
Howell-Evans syndrome
Hoyeraal-Hreidarsson syndrome
HPD with marked diurnal fluctuation
HPFH - beta-thalassemia
HPFH - sickle cell disease
HPMR
HPRT complete deficiency
HPRT deficiency grade IV
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
HPS with pulmonary fibrosis
HPS without pulmonary fibrosis
HPS2
HPS7
HPS8
HPS9
HPT-JT
HRD syndrome
HSAN with hyperhidrosis and gastrointestinal dysfunction
HSAN with spastic paraplegia
HSAN2
HSAN3
HSAN4
HSAN5
HSAN6
HSAN7
HSAS
HSCR
HSD10 deficiency, atypical type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 deficiency, neonatal type
HSD10 disease, atypical type
HSD10 disease, classic type
HSD10 disease, infantile type
HSD10 disease, neonatal type
HSH
HSV encephalitis
HT-EDS
Hunter syndrome type A
Hunter syndrome type B
Huntington chorea
Huntington disease
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like 4
HUPRA syndrome
Hurler disease
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
HVDRR
HVR
Hyaline body myopathy
Hyaline membrane disease
Hyalinosis cutis et mucosae
Hyaluronidase deficiency
Hydranencephaly
Hydrocephalus - agyria - retinal dysplasia
Hydrocephalus with stenosis of aqueduct of Sylvius
Hydrocephalus-agyria-retinal dysplasia syndrome
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Hydrolethalus
Hydrometrocolpos - postaxial polydactyly
Hydronephrosis - inverted smile
Hydrops - ectopic calcification - motheaten
Hydroxymethylglutaric aciduria
Hyper-IgD syndrome
Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Hyperandrogenism due to cortisone reductase deficiency
Hyperargininemia
Hyperbilirubinemia type 2
Hyperbilirubinemia, Rotor type
Hyperbiliverdinemia
Hypercalcemic tumoral calcinosis
Hypercalciuria - bilateral macular coloboma
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperdibasic aminoaciduria type 2
Hyperekplexia
Hyperekplexia - epilepsy
Hypergonadotropic ovarian dysgenesis
Hyperimidodipeptiduria
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulin E syndrome type 1
Hyperimmunoglobulin E syndrome type 2
Hyperimmunoglobulin E-recurrent infection syndrome
Hyperimmunoglobulinemia D syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism due to HADH deficiency
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to UCP2 deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemic periodic paralysis
Hyperkalemic PP
HyperKPP
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia type 3
Hyperlipoproteinemia type 1
Hyperlipoproteinemia type 3
Hyperlipoproteinemia type 4
Hyperlipoproteinemia type 5
Hyperlysinemia
Hyperlysinemia type I
Hyperlysinemia type II
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hypermethioninemia encephalopathy due to ADK deficiency
Hyperornithinemia
Hyperornithinemia - gyrate atrophy of choroid and retina
Hyperornithinemia-hyperammonemia-homocitrullinuria
Hyperostosid corticalis deformans juvenilis
Hyperostosis corticalis generalisata
Hyperostosis generalisata with striations
Hyperparathyroidism - jaw tumor syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemic embryopathy
Hyperphosphatasia-intellectual deficiency syndrome
HyperPP
Hyperprolinemia type 1
Hyperprolinemia type 2
Hyperprostaglandin E syndrome
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Hyperthermia of anesthesia
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Hypertrichotic osteochondrodysplasia, Cantu type
Hypertrophic neuropathy of infancy
Hyperuricemia - anemia - renal failure
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypocalcemic vitamin D-dependent rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcified amelogenesis imperfecta
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodontia - dysplasia of nails
Hypodontia - nail dysgenesis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalemic periodic paralysis
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia intestinal type 1
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomyelination - congenital cataract
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis
Hypoparathyroidism - Addison's disease - mucocutaneous candidosis
Hypoparathyroidism - deafness - renal disease
Hypoparathyroidism - intellectual deficit - dysmorphism
Hypoparathyroidism - short stature - intellectual deficit - seizures
Hypopigmentation - immunodeficiency with or without neurologic impairment
Hypopigmentation - neurologic impairment
Hypopigmentation and punctate keratosis of the palms and soles
Hypopigmentation-deafness syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoplasminogenemia
Hypoplastic amelogenesis imperfecta
Hypoplastic left heart syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypoplastic tibiae - postaxial polydactyly
Hypoproconvertinemia
Hypoprothrombinemia
Hypothalamic hamartoblastoma syndrome
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Hypothyroidism - cleft palate
Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Hypothyroidism due to TSH receptor mutations
Hypotonia - cystinuria syndrome
Hypotonia - failure to thrive - microcephaly
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Hypotonia with lactic acidemia and hyperammonemia
Hypotonia-cerebral atrophy-hyperglycinemia syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotrichosis - congenital ichthyosis
Hypotrichosis - lymphedema - telangiectasia
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypotrichosis with juvenile macular degeneration
Hypotrichosis with juvenile macular dystrophy
Hypotrichosis, Marie Unna type
Hypotrichosis-deafness syndrome
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
HYPP
I-cell disease
IAHSP
IBM2
IBM3
IBMPFD
ICCA syndrome
ICF syndrome
Ichthyosis - hypotrichosis - sclerosing cholangitis
Ichthyosis bullosa of Siemens
Ichthyosis congenita, harlequin type
Ichthyosis exfoliativa
Ichthyosis fetalis, Harlequin type
Ichthyosis follicularis - alopecia - photophobia
Ichthyosis follicularis - atrichia - photophobia
Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix, Curth-Macklin type
Ichthyosis prematurity syndrome
Ichthyosis variegata
Ichthyosis with confetti
Ichthyosis-hypotrichosis syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
IDCS T-B+ par déficit en chaîne gamma
Idiopathic aplastic anemia
Idiopathic basal ganglia calcification
Idiopathic bronchiectasis
Idiopathic CD4 lymphocytopenia
Idiopathic central precocious puberty
Idiopathic dystonia
Idiopathic hypercalciuria
Idiopathic hypereosinophilic syndrome
Idiopathic immunoglobulin deficiency
Idiopathic infantile arterial calcification
Idiopathic juvenile osteoporosis
Idiopathic multicentric osteolysis with or without nephropathy
Idiopathic myelofibrosis
Idiopathic obliterative arteriopathy
Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary fibrosis
Idiopathic torsion dystonia
Idiopathic torsion dystonia of mixed type
Idiopathic ventricular fibrillation, Brugada type
Idiopathic ventricular fibrillation, not Brugada type
IDMDC
Iduronate 2-sulfatase deficiency type A
Iduronate 2-sulfatase deficiency type B
IED
IFAP syndrome
IFD
Ig-mediated membranoproliferative glomerulonephritis
Ig-mediated MPGN
IGF-1 deficiency
IgG subclass deficiency with IgA subclass deficiency
IHSC
IJO
IMAGe syndrome
Iminoglycinuria
Immigration delay disease
Immotile cilia syndrome
Immune brachial plexus neuropathy
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immunodeficiency - centromeric instability - facial anomalies
Immunodeficiency - microcephaly - chromosomal instability
Immunodeficiency by defective expression of HLA class 1
Immunodeficiency by defective expression of HLA class 2
Immunodeficiency due to a C1, C4, or C2 component complement deficiency
Immunodeficiency due to a C5 to C9 component complement deficiency
Immunodeficiency due to a late component of complements deficiency
Immunodeficiency due to an early component of complement deficiency
Immunodeficiency due to CD25 deficiency
Immunodeficiency due to ficolin3 deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency with factor H anomaly
Immunodeficiency with factor I anomaly
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
Imperforate anus with hand, foot and ear anomalies
INAD
INAD1
Inclusion body beta-thalassemia
Inclusion body myopathy type 2
Inclusion body myopathy type 3
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incomplete hydatidiform mole
Incomplete molar pregnancy
Incomplete situs inversus
Incontinentia pigmenti
Index finger anomaly - Pierre Robin syndrome
Infant acute respiratory distress syndrome
Infant ARDS
Infant respiratory distress syndrome
Infantile arteriosclerosis
Infantile autosomal recessive medullary cystic kidney disease
Infantile Bartter syndrome with deafness
Infantile Canavan disease
Infantile cardiomyopathy with histiocytoid change
Infantile cerebellar-retinal degeneration
Infantile cerebral Gaucher disease
Infantile convulsions and choreoathetosis
Infantile cortical hyperostosis
Infantile dystonia-parkinsonism
Infantile epileptic-dyskinetic encephalopathy
Infantile glycine encephalopathy
Infantile GM1 gangliosidosis
Infantile GM2 gangliosidosis 0 variant
Infantile hereditary endothelial dystrophy
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypophosphatasia
Infantile juvenile polyposis syndrome
Infantile Krabbe disease
Infantile malignant osteopetrosis
Infantile myofibromatosis
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Infantile optic atrophy with chorea and spastic paraplegia
Infantile osteopetrosis with neuroaxonal dysplasia
Infantile phosphoethanolaminuria
Infantile Rathburn disease
Infantile Refsum disease
Infantile regressive hypertriglyceridemia and fatty liver
Infantile regressive hypertriglyceridemia and hepatosteatosis
Infantile reversible cytochrome c oxidase deficiency myopathy
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Infantile spasms
Infantile spinal muscular atrophy
Infantile subacute necrotizing encephalopathy with leukodystrophy
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Infantile systemic hyalinosis
Infantile xanthomatous cardiomyopathy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Inflammatory amyloidosis
Inflammatory myofibroblastic tumor
Inflammatory peeling skin syndrome
Inherited acute myeloid leukemia
Inherited AML
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Inherited CJD
Inherited congenital spastic quadriplegia
Inherited congenital spastic tetraplegia
Inherited Creutzfeldt-Jakob disease
Inherited deficiency of transcobalamin
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
Inherited glutamine synthetase deficiency
Inherited GS deficiency
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Inherited zinc deficiency
Insensitivity to pain - anhidrosis
Insulin-resistance syndrome type A
Intelectual deficiency - epilepsy - endocrine disorders
Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Intellectual deficit - craniofacial dysmorphism - cryptorchidism
Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia
Intellectual deficit - hypotonia - facial dysmorphism
Intellectual deficit - hypsarrhythmia
Intellectual deficit - nasal papillomata
Intellectual deficit - obesity - brain malformations - facial dysmorphism
Intellectual deficit - sparse hair - brachydactyly
Intellectual deficit - truncal obesity - retinal dystrophy - micropenis
Intellectual deficit associated with fragile site FRAXE
Intellectual deficit, Birk-Barel type
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
Intellectual deficit, X-linked - psychosis - macroorchidism
Intellectual deficit, X-linked, Cantagrel type
Intellectual deficit, X-linked, Nascimento type
Intellectual deficit, X-linked, Raymond type
Intellectual deficit, X-linked, Siderius type
Intellectual deficit, X-linked, Snyder type
Intellectual deficit, X-linked, Stocco Dos Santos type
Intellectual deficit, X-linked, Turner type
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-strabismus syndrome
Interleukin-1 receptor antagonist deficiency
Interleukin-2 receptor alpha chain deficiency
Intermediate BCKD deficiency
Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
Intermediate branched-chain ketoaciduria
Intermediate leucinosis
Intermediate maple syrup urine disease
Intermediate MSUD
Intermediate nemaline myopathy
Intermediate osteopetrosis
Intermediate severe Salla disease
Intermediate spinal muscular atrophy
Intermittent BCKD deficiency
Intermittent branched-chain 2-ketoacid dehydrogenase deficiency
Intermittent hydrarthrosis
Intermittent maple syrup urine disease
Intermittent MSUD
Intestinal epithelial dysplasia
Intestinal hypomagnesemia with secondary hypocalcemia
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intrahepatic cholestasis of pregnancy
Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Intravascular large B-cell lymphoma
Intravascular lymphomatosis
Intrinsic factor deficiency
Inverse JEB
Inverse RDEB
Inverse recessive dystrophic epidermolysis bullosa
Inverted smile - neurogenic bladder
IOSCA
IPAH
IPD
IPEX
IPS
IRAK4 deficiency
IRD
IRIDA syndrome
Iris coloboma-ptosis-intellectual deficit syndrome
Iron-refractory iron deficiency anemia
Iron-sulphur cluster deficiency myopathy
Isaacs-Mertens syndrome
Ischiopatellar dysplasia
ISCU myopathy
Isobutyric aciduria
Isobutyryl-CoA dehydrogenase deficiency
ISOD
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Isolated acute necrotizing encephalopathy
Isolated adermatoglyphia
Isolated ANE
Isolated anencephaly/exencephaly
Isolated aniridia
Isolated anophthalmia - microphthalmia
Isolated ATP synthase deficiency
Isolated autosomal dominant hypomagnesemia
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Isolated bone marrow mastocytosis
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated congenital acropachy
Isolated congenital controlateral synkinesia
Isolated congenital digital clubbing
Isolated congenital gonadotropin deficiency
Isolated congenital megalocornea
Isolated congenital mirror movements
Isolated congenital nail clubbing
Isolated congenitally uncorrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great vessels
Isolated CoQ-cytochrome C reductase deficiency
Isolated COX deficiency
Isolated cytochrome C oxidase deficiency
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated delta-SPD
Isolated delta-storage pool disease
Isolated dense-SPD
Isolated dense-storage pool disease
Isolated dolichocephaly
Isolated ectopia lentis
Isolated focal cortical dysplasia type IIb
Isolated follicle stimulating hormone deficiency
Isolated frontonasal dysplasia
Isolated FSH deficiency
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated hemihyperplasia
Isolated IgG subclass deficiency
Isolated Klippel-Feil syndrome
Isolated macrencephaly
Isolated median cleft syndrome
Isolated megalencephaly
Isolated mitochondrial neurosensory deafness
Isolated mitochondrial respiratory chain complex I deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated mitochondrial respiratory chain complex IV deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Isolated mitochondrial sensorineural deafness
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated optic nerve hypoplasia
Isolated osteopoikilosis
Isolated plagiocephaly
Isolated polycystic liver disease
Isolated prothyroliberin deficiency
Isolated protirelin deficiency
Isolated pure microphthalmia
Isolated renal magnesium wasting
Isolated scaphocephaly
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-CoQ reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
Isolated sulfite oxidase deficiency
Isolated thyroid-stimulating hormone deficiency
Isolated thyroliberin deficiency
Isolated thyrotropin-releasing factor deficiency
Isolated thyrotropin-releasing hormone deficiency
Isolated trehalose intolerance
Isolated TRF deficiency
Isolated TRH deficiency
Isolated trigonocephaly
Isolated TSH deficiency
Isolated TSH-releasing factor deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Isolated vitamin E deficiency
Isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia
ISSD
Ivemark II syndrome
Ivemark syndrome
IVIC syndrome
IWC
Jackson-Weiss syndrome
Jacobs syndrome
JAE
Jaffe-Lichtenstein disease
Jalili syndrome
JALS
Jankovic-Rivera syndrome
Jarcho-Levin syndrome
JATD
Jawad syndrome
JEB-H
JEB-I
JEB-lo
JEB-nH gen
JEB-nH loc
JEB-PA
Jervell and Lange-Nielsen syndrome
Jeune asphyxiating thoracic dystrophy
Jeune syndrome
JHD
JMADUE
JMP syndrome
Job syndrome
Johanson-Blizzard syndrome
Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
Joubert syndrome
Joubert syndrome type A
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
Joubert syndrome with renal defect
Joubert syndrome with retinopathy
Joubert syndrome with Senior-Loken syndrome
Joubert-Boltshauser syndrome
JPG
JPLS
JS type B
JS-H
JS-O
JS-OR
JS-R
Juberg-Marsidi syndrome
Junctional epidermolysis bullosa - pyloric atresia
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa, Disentis type
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Juvenile absence epilepsy
Juvenile amyotrophic lateral sclerosis
Juvenile autosomal recessive medullary cystic kidney disease
Juvenile Canavan disease
Juvenile cataract - microcornea - renal glucosuria
Juvenile Charcot disease
Juvenile chronic myelomonocytic leukemia
Juvenile glaucoma
Juvenile GM1 gangliosidosis
Juvenile GM2 gangliosidosis 0 variant
Juvenile hemochromatosis
Juvenile hereditary epithelial dystrophy of Meesmann
Juvenile Huntington chorea
Juvenile Huntington disease
Juvenile hyaline fibromatosis
Juvenile Lou Gehrig disease
Juvenile muscular atrophy of distal upper extremity
Juvenile muscular atrophy of the distal upper limb
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile osteoporosis
Juvenile Paget disease
Juvenile Paget's disease
Juvenile PLS
Juvenile polyposis of infancy
Juvenile primary lateral sclerosis
Juvenile rheumatoid factor-negative polyarthritis
Juvenile sialidosis type 2
Juvenile spinal muscular atrophy
Juvenile-onset multiple carboxylase deficiency
Juvenile-onset vitelliform macular dystrophy
JWS
Kabuki make-up syndrome
Kabuki syndrome
Kaeser syndrome
Kahler's disease
Kallmann syndrome
Kanzaki disease
Kappa-chain deficiency
Kaufman-Mckusick syndrome
KBG syndrome
Kearns-Sayre syndrome
Kelley-Seegmiller syndrome
Kennedy disease
Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness
Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
Keratoderma hereditarium mutilans
Keratoderma hereditarium mutilans with ichthyosis
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
Keratosis extremitatum hereditaria progrediens
Keratosis follicularis
Keratosis follicularis spinulosa decalvans
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Keratosis palmoplantar - periodontopathy
Keratosis palmoplantaris - corneal dystrophy
Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis
Keratosis palmoplantaris - periodontopathia - onychogryposis
Keratosis palmoplantaris striata
Keratosis palmoplantaris striata et areata
Keratosis palmoplantaris transgrediens et progrediens
Keratosis palmoplantaris transgrediens of Siemens
Keratosis palmoplantaris varians of Wachters
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Keratosis palmoplantaris-esophageal carcinoma syndrome
Ketoacidosis due to beta-ketothiolase deficiency
Ketohexokinase deficiency
Ketotic hyperglycinemia
Keutel syndrome
KID syndrome
KID/HID syndrome
Kindler syndrome
King-Denborough syndrome
Kinky hair disease
Kinky hair syndrome
Kjellin syndrome
Kjer disease
Kleeblattschaedel syndrome
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
Klein-Waardenburg syndrome
KLICK syndrome
Klippel-Feil deformity - conductive deafness - absent vagina
Klippel-Feil malformation
Klippel-Feil sequence
Klippel-Trénaunay syndrome
Kniest dysplasia
Knobloch syndrome
Knobloch-Layer syndrome
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome
Kohlschutter-Tonz syndrome
Kok disease
Koolen-De Vries syndrome due to a point mutation
Kostmann syndrome
Koussef-Nichols syndrome
Kowarski syndrome
Krabbe disease, classic form
Krabbe disease, early-onset
Krabbe disease, late-onset
Kreiborg-Pakistani syndrome
KS
Kufor-Rakeb syndrome
Kugelberg-Welander disease
Kuskokwim disease
Kynureninase deficiency
L-2-HGA
L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric aciduria
L-CMD
L-CPT1 deficiency
L-CPTI deficiency
L-glyceric aciduria
LAAHD
Lacrimo-auriculo-dento-digital syndrome
Lacrimo-auriculo-radio-dental syndrome
Lactate dehydrogenase A deficiency
Lactate dehydrogenase B deficiency
LAD-1 variant
LAD-I
LAD-II
LAD-III
LADD syndrome
LAEB
Lafora disease
Laing distal myopathy
Laing early-onset distal myopathy
LAM
LAMB-2-related infantile-onset nephrotic syndrome
Lamellar cataract
Lamellar ichthyosis
Laminopathy type Decaudain-Vigouroux
Laminopathy with severe metabolic syndrome and myopathy
LAMM syndrome
Landau-Kleffner syndrome
Landouzy-Dejerine myopathy
Langer mesomelic dysplasia
Langer-Giedion syndrome
LARD syndrome
Large cell lymphoma of the mediastinum
Large congenital melanocytic nevus
Laron syndrome
Laron syndrome with immunodeficiency
Laron-like syndrome
Laron-type dwarfism
Larsen-like syndrome, B3GAT3 type
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngo-onycho-cutaneous syndrome
Late hereditary endothelial dystrophy
Late-infantile GM1 gangliosidosis
Late-infantile/juvenile Krabbe disease
Late-onset autosomal recessive medullary cystic kidney disease
Late-onset citrullinemia type 1
Late-onset citrullinemia type I
Late-onset junctional epidermolysis bullosa
Late-onset multiple carboxylase deficiency
Late-onset retinal degeneration
Lathosterolosis
Lattice corneal dystrophy type 1
Lattice corneal dystrophy type I
Laurin-Sandrow syndrome
Léri-Weill dyschondrosteosis
Léri-Weill syndrome
LBSL
LCAD
LCCS1
LCCS2
LCCS3
LCD1
LCDI
LCHAD deficiency
LCHADD
LCM
LCMN
LCPS
LDD
LDH-H subunit deficiency
LDH-M subunit deficiency
Le Merrer syndrome
Leber 'plus' disease
Leber congenital amaurosis
Leber hereditary optic neuropathy
Leber miliary aneurysm
Leber optic atrophy
Left ventricular hypertrabeculation
Left ventricular noncompaction
Legg-Calvé-Perthes disease
Legius syndrome
Leigh disease with leukodystrophy
Leigh disease with myopathy
Leigh disease with nephrotic syndrome
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Leisti-Hollister-Rimoin syndrome
Lennox-Gastaut syndrome
Lenz microphthalmia
Lenz-Majewski hyperostotic dwarfism
LEOPARD syndrome
Lepore - beta-thalassemia
Leprechaunism
Lesch-Nyhan syndrome
Lethal acantholytic epidermolysis bullosa
Lethal arteriopathy syndrome due to FBLN4 deficiency
Lethal arthrogryposis - anterior horn cell disease
Lethal ataxia with deafness and optic atrophy
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Lethal multiple pterygium syndrome
Lethal neurodegenerative disorder due to copper transport defect
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal osteogenesis imperfecta
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome, Boissel type
Lethal popliteal pterygium syndrome
Lethal restrictive dermopathy
Lethal variant of Simpson-Golabi-Behmel syndrome
Leukemic reticuloendotheliosis
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type II
Leukocyte adhesion deficiency type III
Leukocyte adhesion deficiency-1 variant
Leukodystrophy with oligodontia
Leukoencephalopathy - dystonia - motor neuropathy
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukonychia totalis
Leukotriene C4 synthase deficiency
Levine-Critchley syndrome
Levy-Hollister syndrome
Lewandowsky-Lutz syndrome
Leydig cel hypoplasia due to complete LH receptor inactivation
Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cel hypoplasia due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to LHB deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial LH resistance
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
LGMD1A
LGMD1B
LGMD1C
LGMD1D
LGMD1E
LGMD1F
LGMD2 due to desmin deficiency
LGMD2A
LGMD2B
LGMD2C
LGMD2D
LGMD2E
LGMD2F
LGMD2G
LGMD2H
LGMD2I
LGMD2J
LGMD2K
LGMD2L
LGMD2M
LGMD2N
LGMD2O
LGMD2P
LGMD2Q
LGMD2S
LGMD2T
Lhermitte-Duclos disease
LHON
LI
Li-Fraumeni syndrome
Liddle syndrome
Liebenberg syndrome
LIG4 syndrome
Ligase 4 syndrome
Ligneous conjunctivitis
Limb girdle dystrophy with epidermolysis bullosa simplex
Limb girdle muscular dystrophy due to calpain deficiency
Limb girdle muscular dystrophy due to FKRP deficiency
Limb girdle muscular dystrophy due to telethonin deficiency
Limb, scalp and skull defects
Limb-girdle muscular dystrophy - intellectual deficit
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Limb-girdle muscular dystrophy due to myotilin deficiency
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Limb-girdle muscular dystrophy with Paget disease of bone
Limb-mammary syndrome
Limit dextrinosis
Limited cutaneous systemic scleroderma
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Lindau disease
Lindsay-Burn syndrome
Linear nevus sebaceus syndrome
Linitis plastica of the stomach
Lip-pit syndrome
Lipoamide dehydrogenase deficiency
Lipoatrophic diabetes
Lipodystrophy - Rieger anomaly - diabetes
Lipoic acid synthase deficiency
Lipoid proteinosis
Lipomucopolysaccharidosis
Lipoprotein glomerulopathy
Lissencephaly due to 17p13.3 deletion
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 1 due to doublecortin gene mutation
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy
Liver glycogen phosphorylase deficiency
LMNA-related cardiocutaneous progeria syndrome
LMNA-related congenital muscular dystrophy
LMPS
LMS
Lobar holoprosencephaly
Lobster-claw deformity
LOC syndrome
Localized deciduous skin
Localized epidermolysis bullosa simplex
Localized junctional epidermolysis bullosa, non-Herlitz type
Localized PSS
Localized pustular psoriasis
Loeys-Dietz syndrome type 1
Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome with osteoarthritis
LOGIC syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Long QT interval - deafness
Long QT syndrome - syndactyly
Long QT syndrome type 8
LORD
Loricrin keratoderma
Lou Gehrig disease
Louis-Bar syndrome
Low phospholipid associated cholelithiasis
Lowe disease
Lowe oculo-cerebro-renal syndrome
Lowe syndrome
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
LPG
LPI
LPL deficiency
LPP
LQT7
LQT8
LTBL
LTC4 synthase deficiency
Lubag
Lubag syndrome
Lucey-Driscoll syndrome
Lujan syndrome
Lujan-Fryns syndrome
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Luteinizing hormone-releasing hormone deficiency with ataxia
Lutz-Lewandowsky epidermodysplasia verruciformis
LVNC
Lymphangioleiomyomatosis
Lymphedema - distichiasis
Lymphedema - lymphangiectasia - intellectual deficit
Lymphoadenopathic mastocytosis with eosinophilia
Lymphoplasmacytic immunocytoma
Lymphoplasmacytic leukemia
Lymphoplasmacytic lymphoma
Lymphoplasmacytoid immunocytoma
Lynch syndrome
Lysine alpha-ketoglutarate reductase deficiency
Lysinuric protein intolerance
Lysosomal alpha-D-mannosidase deficiency, adult form
Lysosomal alpha-D-mannosidase deficiency, infantile form
Lysosomal glycogen storage disease with normal acid maltase activity
Lysosomal membrane cobalamin transporter deficiency
Lysozyme amyloidosis
Lytico-Bodig disease
M hemoglobinopathy
Mabry syndrome
MAC
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Macias Flores-Garcia Cruz-Rivera syndrome
Macrocephaly - alopecia - cutis laxa - scoliosis
Macrocephaly - cutis marmorata telangiectatica congenita
Macrocephaly-autism syndrome
Macrocephaly-capillary malformation syndrome
Macrodactyly of fingers, unilateral
Macrostomia
MACS syndrome
Macular corneal dystrophy
Macular dystrophy with flecks
MAE
Maeda syndrome
Maffucci syndrome
Majeed syndrome
Major hyperlipidemia
Mal de Meleda
Malattia leventinese
Male infertility associated with large-headed multiflagellar polyploid spermatozoa
Male infertility due to NANOS1 mutation
Male infertility with normal virilization due to maturation arrest
Male infertility with normal virilization due to meiosis defect
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Male sterility due to chromosome Y deletion
Male-limited precocious puberty
Malignant angioendotheliomatosis
Malignant hyperpyrexia
Malignant hyperthermia
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Malignant paroxysmal ventricular tachycardia
Malonic aciduria
Malonyl-CoA decarboxylase deficiency
Malouf syndrome
MALT lymphoma
MALToma
Man of stone
Man5GlcNAc2-PP-Dol flippase deficiency
Mandibular hypoplasia-deafness-progeroid syndrome
Mandibulfacial dysostosis with postaxial limb anomalies
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis with preaxial limb anomalies
Mandibulofacial dysostosis without limb anomalies
Mandibulofacial dysostosis, Guion-Almeida type
Mandibulofacial dysostosis-microcephaly syndrome
Manitoba oculotrichoanal syndrome
Mannosyltransferase 1 deficiency
Mannosyltransferase 2 deficiency
Mannosyltransferase 6 deficiency
Mannosyltransferase 7-9 deficiency
Mannosyltransferase 8 deficiency
Mantle cell lymphoma
Mantle zone lymphoma
Marble brain disease
Marchiafava-Micheli disease
Marden-Walker-like syndrome
Marfan syndrome type 1
Marfan syndrome type 2
Marfanoid craniosynostosis syndrome
Marie Unna congenital hypotrichosis
Marie Unna hereditary hypotrichosis
Marinesco-Sjögren syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
Maroteaux-Malamut syndrome
Maroteaux-Verloes-Stanescu syndrome
Marshall syndrome
Marshall-Smith syndrome
Martin-Bell syndrome
Martin-Probst syndrome
Martsolf syndrome
MASA syndrome
Mast syndrome
MAT deficiency
MAT I/III deficiency
Maternal hyperphenylalaninemia
Maternal phenylketonuria
Maternal PKU
Maternal riboflavin deficiency
Maternal uniparental disomy of chromosome 14
Maternally-inherited infantile subacute necrotizing encephalopathy
Maternally-inherited Leigh disease
Maternally-inherited Leigh syndrome
Maternally-inherited spastic paraplegia
Maternally-inherited SPG
Matthew-Wood syndrome
Maturity-onset diabetes of the young
Maumenee corneal dystrophy
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mazabraud syndrome
Ménière disease
MC4R deficiency
MCAD deficiency
MCADD
MCAHS type 2
MCAP
McArdle disease
MCC deficiency
McCabe's disease
MCCD
McCune-Albright syndrome
MCD
MCDR2
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
MCEE deficiency
McGrath syndrome
McKusick-Kaufman syndrome
MCL
McLeod neuroacanthocytosis syndrome
MCM
MCMTC
MCOPS3
MCOPS5
MCOPS6
MCOPS7
MCOPS8
MCOPS9
MCPH
MCSZ
MCT8 deficiency
MD
MD1
MDC1A
MDP syndrome
Meacham syndrome
Meacham-Winn-Culler syndrome
MEB disease with bilateral multicystic leucodystrophy
MEB syndrome
MECD
Meckel syndrome
Meckel syndrome type 7
Meckel-Gruber syndrome
Meckel-like syndrome type 1
Meconium ileus due to guanylate cyclase 2C deficiency
Med-DLBCL
MED1
MED4
MED5
MEDAC syndrome
Mediastinal diffuse large-cell lymphoma with sclerosis
Mediterranean anemia
Medium chain acyl-CoA dehydrogenase deficiency
MEDNIK syndrome
Medullary plasmacytoma
Medulloblastoma with extensive nodularity
Meesmann corneal dystrophy
Megacolon - microcephaly
Megaconial congénital muscular dystrophy
Megaduodenum and/or megacystis
Megalencephalic leukodystrophy
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly - cutis marmorata telangiectatica congenita
Megalencephaly - cystic leukodystrophy
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalocornea - spherophakia - secondary glaucoma
MEGDEL syndrome
Meier-Blumberg-Imahorn syndrome
Meier-Gorlin syndrome
Melanoma and neural system tumor syndrome
Melanoma of soft part
Melanoma-astrocytoma syndrome
Melanoma-pancreatic cancer syndrome
Melanosis diffusa congenita
Melanosis universalis hereditaria
MELAS syndrome
Meleda disease
Melnick-Needles syndrome
Melorheostosis with osteopoikilosis
Membranoproliferative glomerulonephritis type 2
MEN 1
MEN2A
MEN2B
MEN4
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
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 interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Menkes disease
Menkes syndrome
Mental retardation - truncal obesity - retinal dystrophy - micropenis
Merosin-negative congenital muscular dystrophy
MERRF syndrome
Mesodermic dysplasia
Mesomelia-synostoses syndrome
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dwarfism, Langer type
Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
Metabolic myopathy due to lactate transporter defect
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 chondromatosis with D-2-hydroxyglutaric aciduria
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Metatropic dwarfism
Metatropic dysplasia
Methacrylic aciduria
Methionine adenosyltransferase deficiency
Methotrexate intoxication
Methotrexate poisoning
Methylcobalamin deficiency type cblDv1
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylene tetrahydrofolate reductase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria, type cblF
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Methylmalonic acidemia, TCb1R type
Methylmalonic acidemia, TCbIR type
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic aciduria with homocystinuria, type cblC
Methylmalonic aciduria with homocystinuria, type cblD
Methylmalonic aciduria with homocystinuria, type cblF
Methylmalonic aciduria with homocystinuria, type cblJ
Methylmalonic aciduria with homocystinuria, type cblX
Mevalonic aciduria
Meyer-Schwickerath syndrome
MFDM syndrome
MFS1
MFS2
MGA type 1
MGA2
MGA3
MGA5
MGAT2-CDG
MHBD deficiency, classic type
MHBD deficiency, infantile type
MHBD deficiency, neonatal type
mHPA
MIC-CAP syndrome
MIC-CM syndrome
MICPCH
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Micro syndrome
Microcephalia vera
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Dauber type
Microcephalic primordial dwarfism, Walsh type
Microcephaly - immunodeficiency - lymphoreticuloma
Microcephaly - intellectual deficit - tracheoesophageal fistula type 1
Microcephaly - intracranial calcification - intellectual deficit
Microcephaly - lymphedema - chorioretinopathy
Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
Microcephaly - oculo-digito-esophageal-duodenal syndrome type 1
Microcephaly - polymicrogyria - corpus callosum agenesis
Microcephaly - seizures - developmental delay
Microcephaly and chromosomal instability without immunodeficiency
Microcephaly vera
Microcephaly-capillary malformation syndrome
Microcephaly-cutaneous capillary malformation syndrome
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-digital anomalies-normal intelligence type 1
Microcephaly-intellectual deficit-tracheoesophageal fistula syndrome type 2
Microcoria - congenital nephrosis
Microcornea - rod-cone dystrophy - cataract - posterior staphyloma
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Microcystic corneal dystrophy
Microcytic anemia with liver iron overload
Microdeletion 22q11.2
Microdeletion 9q22.3
Microdontia - type I microtia - deafness
Microduplication 17p12
Microform holoprosencephaly
Microform HPE
Micrognathia digital syndrome
Microlissencephaly
Microlissencephaly type A
Micromelic dysplasia - dislocation of radius
Microphthalmia - anophthalmia - coloboma
Microphthalmia - cataract
Microphthalmia - dermal aplasia - sclerocornea
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Microphthalmia with brain and digit anomalies
Microphthalmia with colobomatous cyst
Microphthalmia with limb anomalies
Microphthalmia with linear skin defects syndrome
Microphthalmia, Lenz type
Microtia
Microvillous inclusion disease
MIDAS syndrome
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Middle-East syndrome
Midline interhemispheric variant of holoprosencephaly
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
MIH
MIH type HPE
MIHF
MIHV
Mild Canavan disease
Mild factor IX deficiency
Mild factor VIII deficiency
Mild hemophilia A
Mild hemophilia B
Mild HPA
Mild hyperphenylalaninemia
Mild nemaline myopathy
Mild osteogenesis imperfecta
Mild peroxismal disorder due to PEX10 deficiency
Mild phenylketonuria
Mild PKU
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Miller syndrome
Miller-Dieker syndrome
Milroy disease
MILS
Minimal pigment oculocutaneous albinism type 1
Minimally differentiated acute myeloblastic leukemia
Minkowski-Chauffard disease
MIRAS
Mirror hands and feets - nasal defects
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Mitochondrial aconitase deficiency
Mitochondrial aspartate-glutamate carrier 1 deficiency
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
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 maintenance syndrome due to MGME1 deficiency
Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
Mitochondrial encephalomyopathy - aminoacidopathy
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial HSP60 chaperonopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial membrane protein associated neurodegeneration
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with reversible complex IV deficiency
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial nonsyndromic neurosensory deafness
Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial spinocerebellar ataxia with epilepsy
Mitochondrial trifunctional protein deficiency
Mixed renal tubular acidosis
Mixed RTA
Mixed sclerosing bone dystrophy
Miyoshi myopathy
MK
MLASA
MLC
MLCRD
MLD, adult form
MLD, juvenile form
MLD, late infantile form
MLS
MLS syndrome
MMCAT syndrome
MMEP syndrome
MMPEI
MMPSI
MMT type 1
MMT type 2
MNGIE
MNK
MOCOD type A
MOCOD type B
MOCOD type C
MODED syndrome type 1
Moderate multiminicore disease with hand involvement
Moderately severe factor IX deficiency
Moderately severe factor VIII deficiency
Moderately severe hemophilia A
Moderately severe hemophilia B
MODY syndrome
MODY5
Mohr-Tranebjaerg syndrome
Monilethrix
Moniliform hair syndrome
Monoamine oxidase A deficiency
Monocarboxylate transporter 8 deficiency
Monocyte - B - natural killer - dendritic cell deficiency
Monocytopenia and mycobacterial infection syndrome
Monocytopenia with susceptibility to infections
MonoMAC
Monomelic amyotrophy
Mononeuritis multiplex with brachial predilection
Monosomy 11p13
Monosomy 12p12.1
Monosomy 12q14
Monosomy 13q14
Monosomy 14q12
Monosomy 14q22-q23
Monosomy 14q22q23
Monosomy 15q13.3
Monosomy 15q26
Monosomy 16q24.3
Monosomy 17p13.3
Monosomy 17q11
Monosomy 17q12
Monosomy 17q21.31
Monosomy 17q23.1-q23.2
Monosomy 17q23.1q23.2
Monosomy 1p21.3
Monosomy 1p36
Monosomy 1pter
Monosomy 1qter
Monosomy 20p12.3
Monosomy 22q11
Monosomy 22q13
Monosomy 2p21
Monosomy 2q23.1
Monosomy 2q32
Monosomy 2q32-q33
Monosomy 2q32q33
Monosomy 2q33.1
Monosomy 2q37-qter
Monosomy 3pter
Monosomy 5p
Monosomy 5q14.3
Monosomy 6q16
Monosomy 6q25
Monosomy 7q11.23
Monosomy 7q31
Monosomy 8p11.2
Monosomy 8p23.1
Monosomy 8q13
Monosomy 8q24.1
Monosomy 9q22.3
Monostotic fibrous dysplasia
MOPD type II
MORM syndrome
Morning glory syndrome
Morquio disease type A
Morquio disease type B
Mosaic variegated aneuploidy syndrome
MOTA syndrome
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to monosomy 2q22
Moyamoya disease
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
MP OCA type 1
MPAN
MPD1
MPDU1-CDG
MPEI
MPI-CDG
mPKU
MPO deficiency
MPPH syndrome
MPS1H
MPS1H/S
MPS1S
MPS6, rapidly progressing
MPS6, slowly progressing
MPSI
MPSIVA
MPSIVB
MPSVI, rapidly progressing
MPSVI, slowly progressing
MRCLS
MRCS syndrome
MRGH
MRKH syndrome type 1
MRKH syndrome type 2
MRXSH
MSA
MSA, cerebellar type
MSA, parkinsonian type
MSA-c
MSA-p
MSBD syndrome
MSCAE
MSD
MSMD due to complete IFNgammaR1 deficiency
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete IL12B deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interferon gamma receptor 1 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
MSMD due to complete interleukin 12B deficiency
MSMD due to complete ISG15 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
MSMD due to partial IRF8 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
MSMD due to partial STAT1 deficiency
MSSE
mtDNA deletion syndrome with progressive myopathy
mtDNA deletion syndromesyndrome with limb-girdle weakness
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
mtDNA depletion syndrome, hepatocerebrorenal form
mtDNA depletion syndrome, myopathic form
mtDNA maintenance syndrome due to MGME1 deficiency
MTHFR deficiency
Muckle-Wells syndrome
Mucocutaneous venous malformations
Mucolipidosis type 2
Mucolipidosis type 3
Mucolipidosis type 4
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type 1H/S
Mucopolysaccharidosis type 1S
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2A
Mucopolysaccharidosis type 2B
Mucopolysaccharidosis type 3A
Mucopolysaccharidosis type 3B
Mucopolysaccharidosis type 3C
Mucopolysaccharidosis type 3D
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 4B
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Mucopolysaccharidosis type 7
Mucopolysaccharidosis type 9
Mucopolysaccharidosis type VI, rapidly progressing
Mucopolysaccharidosis type VI, slowly progressing
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
Mucosulfatidosis
Mucoviscidosis
Muenke syndrome
MUHH
Muir-Torre syndrome
MULIBREY dwarfism
MULIBREY nanism
Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric osteolysis - nodulosis - arthropathy
Multifocal ventricular premature beats
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Multiple cartilaginous exostoses
Multiple congenital anomalies - hypotonia - seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple contracture syndrome, Finnish type
Multiple contracture syndrome, Israeli-Bedouin type
Multiple cutaneous and uterine leiomyomas
Multiple endocrine deficiency - Addison's disease - candidiasis
Multiple endocrine deficiency - Addison's disease - candidosis
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 3
Multiple endocrine neoplasia type 4
Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
Multiple epiphyseal dysplasia - myopia - deafness
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 glomus tumors
Multiple hamartoma syndrome
Multiple intestinal atresia
Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects
Multiple keratoacanthoma, Ferguson-Smith type
Multiple keratoacanthoma, Muir-Torre type
Multiple mastocytoma
Multiple myeloma
Multiple osteochondromas
Multiple paragangliomas associated with erythrocytosis
Multiple paragangliomas associated with polycythemia
Multiple pituitary hormone deficiencies, genetic forms
Multiple self-healing squamous epithelioma
Multiple sulfatase deficiency
Multiple synostoses syndrome
Multiple system atrophy, cerebellar type
Multiple system atrophy, parkinsonian type
MURCS association
Murray-Puretic-Drescher syndrome
Muscle enolase deficiency
Muscle filaminopathy
Muscle phosphoglycerate mutase deficiency
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscle-eye-brain syndrome
Muscle-liver-brain-eye nanism
Muscular dystrophy, Selcen type
Muscular enolase deficiency
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
MUTYH-related AFAP
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial polyposis coli
MUTYH-related attenuated FAP
MVA
MyD88 deficiency
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myelodysplastic syndromes
Myelofibrosis with myeloid metaplasia
Myeloid neoplasm associated with FGFR1 rearrangement
Myeloid neoplasm associated with PDGFRA rearrangement
Myeloid neoplasm associated with PDGFRB rearrangement
Myelomatosis
Myeloperoxidase deficiency
Myelosclerosis with myeloid metaplasia
Myhre syndrome
Myhre-Riley-Smith syndrome
Myoadenylate deaminase deficiency
Myoclonic atonic epilepsy
Myoclonic dystonia
Myoclonic-astatic epilepsy in early childhood
Myoclonus epilepsy associated with ragged-red fibers
Myoclonus-dystonia syndrome
Myofibrillar myopathy with early respiratory failure
Myopathie distale type Markesbery-Griggs
Myopathy due to phosphoglycerate mutase deficiency
Myopathy with exercise intolerance, Swedish type
Myopathy, lactic acidosis and sideroblastic anemia
Myophosphorylase deficiency
Myosclerosis
Myositis ossificans progressiva
Myostatin-related muscle hypertrophy
Myotilin-related myofibrillar myopathy without spheroid body
Myotonia - painful contractions
Myotonia congenita
Myotonia fluctuans
Myotonia permanens
Myotonic chondrodystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Myotubular myopathy
Myxofibrosarcoma
Myxoid malignant fibrous histiocytoma
Myxoid/round cell liposarcoma
Myxoma - spotty pigmentation - endocrine overactivity
Myxoma with fibrous dysplasia
N-acetyl-alpha-glucosaminidase deficiency
N-acetyl-glucosamine 1-phosphotransferase deficiency
N-acetylgalactosamine-6-sulfate sulfatase deficiency
N-acetylglucosaminyltransferase 2 deficiency
N-acyl-L-amino acid amidohydrolase deficiency
Na-H exchange deficiency
NADH-cytochrome b5reductase deficiency type 1
NADH-cytochrome b5reductase deficiency type 2
NADH-diaphorase deficiency type 1
NADH-diaphorase deficiency type 2
Naegeli syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NAFD
NAGA deficiency type 1
NAGA deficiency type 2
NAGA deficiency type 3
Nager acrofacial dysostosis
Nager syndrome
NAGS deficiency
Nail-patella syndrome
Nails-only DEB
NAIT
Naito-Oyanagi disease
Najjar syndrome
Nakajo-Nishimura syndrome
Nakamura-Osame syndrome
NALD
Nance deafness
Nance-Horan syndrome
Nanophthalmia
NAO syndrome
NAPS12
Narcolepsy without cataplexy
Narcolepsy-cataplexy
NARP syndrome
Nasu-Hakola disease
Native American myopathy
Navajo brainstem syndrome
Navajo neurohepatopathy
Navajo neuropathy
Naxos disease
NBCCS
NBIA due to C19orf12 mutation
NBIA1, atypical form
NBIA1, classic form
NBIA4
NBIA5
NBS
NBS-like disorder
NBSLD
NCAH
NCL, Northern epilepsy variant
NCRNA disease
Neonatal acute respiratory distress with surfactant metabolism deficiency
Neonatal adrenoleukodystrophy
Neonatal Canavan disease
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Neonatal glycine encephalopathy
Neonatal inflammatory skin and bowel disease
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal Marfan syndrome
Neonatal MFS
Neonatal multiple carboxylase deficiency
Neonatal osseous dysplasia type 1
Neonatal respiratory distress syndrome
Neonatal severe primary hyperparathyroidism
Nephroblastoma
Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nephrolithiasis type 1
Nephrolithiasis type 2
Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit
Nephronophthisis with retinal dystrophy
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
NEPPK
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neural crest tumor
Neuralgic amyotrophy
Neuralgic shoulder amyotrophy
Neuraminidase deficiency with beta-galactosidase deficiency
Neurilemmomatosis
Neuroblastoma
Neurocutaneous syndrome, Bicknell type
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 1, atypical form
Neurodegeneration with brain iron accumulation type 1, classic form
Neurodegeneration with brain iron accumulation type 4
Neurodegeneration with brain iron accumulation type 5
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal melanolysosomal disease
Neuroectodermal syndrome, Zunich type
Neuroferritinopathy
Neurofibromatosis 1-like syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Neurofibromatosis type 1 microdeletion syndrome
Neurofibromatosis type 2
Neurofibromatosis type 3
Neurogenic acroosteolysis
Neurogenic muscle weakness - ataxia - retinitis pigmentosa
Neurogenic scapuloperoneal syndrome
Neurologic Waardenburg-Shah syndrome
Neurological conditions associated with aminoacylase 1 deficiency
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Neuropathy - ataxia - retinitis pigmentosa
Neuropathy with hearing impairment
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Neutral lipid storage disease with ichthyosis
Neutral lipid storage disease with myopathy without ichthyosis
Neutral lipid storage myopathy
Neutrophil immunodeficiency syndrome
Neutrophil-specific granule deficiency
Nevoid basal cell carcinoma syndrome
Nevus sebaceus of Jadassohn
Nevus sebaceus syndrome
NF1 microdeletion syndrome
NF1-like syndrome
NF2
NF3
NFJ syndrome
NGPS
NHD
NHEJ1 deficiency
NHSA4
NHSA5
NICCD
Nicolaides-Baraitser syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, classic form
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
nIHH
Niikawa-Kuroki syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
NISCH syndrome
NLRP12-associated hereditary periodic fever syndrome
NLSDI
NLSDM
NNS
Nodular urticaria pigmentosa
Nodulosis-arthropathy-osteolysis syndrome
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Non-bullous congenital ichthyosiform erythroderma
Non-cerebral juvenile Gaucher disease
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-deforming osteogenesis imperfecta
Non-DS-AMKL
non-dysgerminomatous germ cell tumor of the testis
Non-epidermolytic palmoplantar keratoderma
Non-familial retinoblastoma
Non-fluent variant PPA
Non-hereditary retinoblastoma
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
Non-PKU HPA
Non-polyposis Turcot syndrome
Non-progressive cerebellar ataxia - intellectual deficit
Non-progressive cerebellar ataxia with intellectual deficit
Non-seminomatous germ cell tumor of the testis
Non-skeletal hyper-IgE syndrome
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Non-syndromic bicornal synostosis
Non-syndromic biliary atresia
Non-syndromic congenital retinal non-attachment
Non-syndromic metopic craniosynostosis
Non-syndromic sagittal synostosis
Non-syndromic unicoronal synostosis
Nonaka myopathy
Nonne-Milroy lymphedema
Noonan syndrome
Noonan syndrome-like disorder with JMML
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Noradrenaline deficiency
Norepinephrine deficiency
Norman disease
Norman-Landing disease
Normocalcemic tumoral calcinosis
Normomorphic sialidosis
Normosmic congenital hypogonadotropic hypogonadism
normosmic idiopathic hypogonadotropic hypogonadism
Norrie disease
Norrie-Warburg disease
Northern epilepsy
Norum disease
Notochordal sarcoma
NPHP3-related Meckel-like syndrome
NS
NS-ARID
NSHPT
NSIAD
Nuclear cataract
Null syndrome
O'Donnell-Pappas syndrome
OA1
OAS
Oberklaid-Danks syndrome
Obesity due to congenital leptin deficiency
Obesity due to leptin receptor gene deficiency
Obesity due to MC3R deficiency
Obesity due to melanocortin 4 receptor deficiency
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to SIM1 deficiency
OCA1-MP
OCA1-TS
OCA1A
OCA1B
OCA2
OCA3
OCA4
OCA6
OCA7
Occipital encephalocele
Occipital horn syndrome
Occipital malformations of cortical development
Occipital MCD
Occipital pachygyria and polymicrogyria
Occlusive infantile arteriopathy
Occult macular dystrophy
Ochoa syndrome
OCMD
OCR
OCRL
OCT deficiency
Ocular albinism type 1
Ocular albinism with congenital sensorineural deafness
Ocular albinism, Nettleship-Falls type
Ocular form of osteogenesis imperfecta
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculo-digito-esophageal-duodenal syndrome type 1
Oculo-oto-radial syndrome
Oculoauricular syndrome, Schorderet type
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal dystrophy
Oculocerebrorenal syndrome
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 Amish
Oculocutaneous tyrosinemia
Oculodentodigital dysplasia
Oculodentoosseous dysplasia
Oculofaciocardiodental syndrome
Oculomelic amyoplasia
Oculootodental syndrome
Oculopharyngeal muscular dystrophy
Oculotrichoanal syndrome
ODDD syndrome
ODED syndrome type 1
Odonto-onycho-dermal dysplasia
Odontohypophosphatasia
Odontoleukodystrophy
OFC syndrome
OFCD syndrome
OFD1
OFD14
OFD4
OFD6
OFDI
OFDSI
Ogden syndrome
Oguchi disease
Oguchi syndrome
Ohaha syndrome
OHSS
Ohtahara syndrome
OI type 1
OI type 2
OI type 3
OI type 4
OI type 5
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13
OL-EDA-ID
Olfacto-genital pathological sequence
Oligoarticular juvenile arthritis
Oligodontia
Oligodontia - cancer predisposition syndrome
Oligophrenin-1 syndrome
Olivopontocerebellar hypoplasia
Ollier disease
Olmsted syndrome
OMD
Omenn syndrome
OMPP
Oncocytic cardiomyopathy
Ondine curse
Ondine syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Onychoosteodysplasia
OOD
OODD
OPA3, autosomal dominant
OPHN1 syndrome
Ophthalmoacromelic syndrome
Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Opitz trigonocephaly syndrome
Opitz trigonocephaly-like syndrome
Opitz-Kaveggia syndrome
OPMD
Oppenheim dystonia
OPPG
Opsismodysplasia
Optic atrophy - deafness- polyneuropathy - myopathy
Optic atrophy plus syndrome
Oral-facial-digital syndrome type 1
Oral-facial-digital syndrome type 14
Oral-facial-digital syndrome type 4
Oral-facial-digital syndrome type 6
Organoid nevus syndrome
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 6
Oroticaciduria
Orotidylic decarboxylase deficiency
Osler-Vaquez disease
OSMED
Osteochondritis dissecans and short stature
Osteochondritis of the capital femoral epiphysis
Osteochondromuscular dystrophy
Osteochondrosis of the capital femoral epiphysis
Osteocraniosplenic syndrome
Osteocraniostenosis
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta - congenital joint contractures
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
Osteogenic sarcoma
Osteoglophonic dwarfism
Osteopathia striata - cranial sclerosis
Osteopetrosis - hypogammaglobulinemia
Osteopetrosis autosomal dominant type 2
Osteopetrosis with renal tubular acidosis
Osteopoikilosis - short stature - intellectual deficit
Osteoporosis - pseudoglioma
Osteosarcoma
Osteosclerosis - developmental delay - craniosynostosis
OTC deficency
Otodental dysplasia
Otodental syndrome
Otofaciocervical syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Otospondylomegaepiphyseal dysplasia
Ovarian adenocarcinoma
Ovarian hyperstimulation syndrome
Ovarian malignant Sertoli-Leydig cell tumor
Ovarian Sertoli-Leydig cell cancer
Ovarioleukodystrophy
Overgrowth - macrocephaly - facial dysmorphism
Overhydrated hereditary stomatocytosis
Owren disease
OXCT1 deficiency
Oxoglutaricaciduria
Oxoprolinuria due to oxoprolinase deficiency
Oxysterol 7-alpha-hydroxylase deficiency
P2Y12 defect
P5CS deficiency
P5N deficiency
Pachydermoperiostosis
Pachyonychia congenita
PAFAH1B1-associated lissencephaly
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
Painful congenital myotonia
Painful myotonia
PAIS
Palatodigital syndrome, Catel-Manzke type
Pallidopyramidal syndrome
Pallister-Hall syndrome
Palmoplantar and periorificial keratoderma
Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis
Palmoplantar hyperkeratosis - periodontopathia - onychogryposis
Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar hyperkeratosis, Nagashima type
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis
Palmoplantar keratoderma - periodontopathia - onychogryposis
Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Palmoplantar keratoderma, Nagashima type
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-hearing loss syndrome
Palmoplantar pustulosis
PAN, pediatric onset
Pancreatic and cerebellar agenesis
Pancreatic hypoplasia - diabetes - congenital heart disease
Pancreatic insufficiency - anemia - hyperostosis
Pancytopenia due to IKZF1 mutations
Panhypopituitarism
PAPA syndrome
Papillary or follicular thyroid carcinoma
Papillary renal cell adenocarcinoma
Papillary renal cell carcinoma
Papillo-renal syndrome
Papilloma of choroid plexus
Papillon-Léage-Psaume syndrome
Papillon-Lefèvre syndrome
Papular atrichia
Paraganglioma - somatostatinoma - polycythemia
Paraganglioma and gastric stromal sarcoma
Parahemophilia
Paramyotonia congenita
Paramyotonia congenita of Von Eulenburg
Parastremmatic dwarfism
Parathyroid carcinoma
Parietal foramina
Parietal foramina with cleidocranial dysostosis
Parietal foramina with cleidocranial dysplasia
Paris-Trousseau thrombocytopenia
PARK14
PARK9
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Parkinsonim due to ATP13A2 deficiency
Parkinsonism with alveolar hypoventilation and mental depression
Parkinsonism-dementia-ALS complex
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal kinesigenic choreathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Paroxysmal nocturnal hemoglobinuria
Paroxysmal non-kinesigenic dyskinesia
Paroxysmal ventricular fibrillation
Paroxystic non-kinesigenic choreoathetosis
Partial acquired lipodystrophy
Partial agenesis of the pancreas
Partial androgen insensitivity syndrome
Partial androgen resistance syndrome
Partial atrioventricular canal
Partial chromosome Y deletion
Partial congenital cataract
Partial deficiency of methylmalonyl-CoA mutase
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
Partial facial palsy with urinary abnormalities
Partial gigantism - nevi - hemihypertrophy - macrocephaly
Partial hydatidiform mole
Partial LCAT deficiency
Partial mevalonate kinase deficiency
Partial molar pregnancy
Partial pancreatic agenesis
Partial situs inversus
Partington syndrome
Partington-Mulley syndrome
Pascual-Castroviejo syndrome type 1
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Paternal uniparental disomy of chromosome 14
Paternal uniparental disomy of chromosome 6
Pauciarticular chronic arthritis
PC
PCARP
PCCA
PCD
PCH1
PCH2
PCH4
PCH5
PCH6
PCH8
PCH9
PCI deficiency
PCLD
PCT
PCWH
PDALS
PDDRI
PDH phosphatase deficiency
PDHAD
PDHBD
PDP
PDS
PED
Pediatric polyarteritis nodosa
Pediatric systemic lupus erythematosus
Peeling skin syndrome type A
Peeling skin syndrome type B
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease type II
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, null syndrome
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Pelizaeus-Merzbacher-like due to GJC2 mutation
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Pelviscapular dysplasia
Pena-Shokeir syndrome type 1
Pena-Shokeir syndrome type 2
Pendred syndrome
Pentosuria
PEO - myopathy - emaciation
PEPCK1 deficiency
PEPCK2 deficiency
Perheentupa syndrome
Pericardial constriction - growth failure
Pericarditis - arthropathy - camptodactyly
Perinatal lethal bent bone dysplasia
Perinatal lethal Gaucher disease
Perinatal lethal hypophosphatasia
Perinatal lethal phosphoethanolaminuria
Perinatal lethal Rathburn disease
Periodic disease
Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease
Peripheral neuropathy and optic atrophy
Peripheral neuropathy, Fiskerstrand type
Peripheral PNET
Peripheral primitive neuroectodermal tumor
Peripheral resistance to thyroid hormones
Periventricular nodular heterotopia
Perlman syndrome
Permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Peroxisomal acyl-CoA oxidase deficiency
Peroxisomal alanine-glyoxylate aminotransferase deficiency
Perrault syndrome
PERRS
Perry syndrome
Persistent fetal vasculature syndrome
Persistent hyperplastic primary vitreous
Persistent Müllerian derivatives
Persistent Müllerian duct syndrome
Persistent polyclonal B-cell lymphocytosis
Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
Perthes disease
Peters anomaly
Peters anomaly with short limb dwarfism
Peters congenital glaucoma
Peters-plus syndrome
Peutz-Jeghers syndrome
PFCP
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
PFIC1
PFIC2
PFIC3
PFVS
PGM-CDG
PHA2B
PHA2C
PHA2D
PHA2E
Phakomatosis pigmentokeratotica
PHARC syndrome
Pharmacogenetic myopathy of anesthesia
Phelan-McDermid syndrome
Phenotypic diarrhea
Phenylketonuria type 2
Phenylketonuric embryopathy
Phenytoin embryofetopathy
PHID
PHNED
Phocomelia, Schinzel type
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoglucomutase 1 deficiency
Phospholipase A2-associated neurodegeneration
Phosphomannomutase 2 deficiency
Phosphomannose isomerase deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoserine aminotransferase deficiency
PHPV
PHSH
Phytanic acid oxidase deficiency
Phytosterolemia
Piccardi-Lassueur-Little syndrome
Piebaldism
Pierre Robin sequence - congenital heart defect - talipes
Pierre Robin sequence - fetal chondrodysplasia
Pierre Robin sequence - hyperphalangy - clinodactyly
Pierre Robin syndrome - congenital heart defect - talipes
Pierre Robin syndrome - fetal chondrodysplasia
Pierre Robin syndrome - hyperphalangy - clinodactyly
Pierre Robin syndrome with hyperphalangy and clinodactyly
Pierson syndrome
PIGL-CDG
PIGM-CDG
Pigment anomaly - ectrodactyly - hypodontia
Pigmentary orthochromatic leukodystrophy
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
Pigmented paravenous retinochoroidal atrophy
Pilocytic astrocytoma
Pilomatricoma
Pilomatrixoma
Pingelapese blindness
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
PJS
PKAN, atypical form
PKAN, classic form
PKDYS
PKU type 2
PLA2G6-related dystonia-parkinsonism
PLAID
PLAN
Plaque-form urticaria pigmentosa
Plasma cell myeloma
Plasma thromboplastin antecedent deficiency
Plasminogen deficiency type 1
Platelet alpha-granule deficiency
Platinum oculocutaneous albinism
Platyspondylic dysplasia, Torrance type
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
PLCG2-associated antibody deficiency and immune dysregulation
Pleuro-pulmonary blastoma family tumor susceptibility syndrome
Pleuropulmonary blastoma family tumor susceptibility syndrome
PLO-SL
PLOSL
PLP1 null syndrome
PLS
PLSD-T
PMDS
PMED
PMLD1
PMM2-CDG
PNDM
PNH
PNP deficiency
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
POADS
Poikiloderma of Kindler
Poikiloderma of Rothmund-Thomson type 2
Poikiloderma with neutropenia
Poikiloderma with neutropenia, Clericuzio type
Pokkuri death syndrome
POLD
Polyarthritis without rheumatoid factor
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycythemia rubra vera
Polycythemia vera
Polydactyly - cleft lip/palate - psychomotor retardation
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Polyepiphyseal dysplasia type 1
Polyepiphyseal dysplasia type 4
Polyepiphyseal dysplasia type 5
Polymicrogyria due to TUBB2B mutation
Polymicrogyria with optic nerve hypoplasia
Polymorphic vitelline macular degeneration
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Polyostotic fibrous dysplasia
Polyps and spots syndrome
Polysyndactyly, bilateral
Polysyndactyly, Haas type
Polysyndactyly, unilateral
POMC deficiency
Pompe disease, adult onset
Pompe disease, infantile onset
Pompe disease, juvenile onset
Pontocerebellar hypoplasia due to CHMP1A mutation
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
Popliteal web syndrome
POR deficiency
PORD
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Porokeratotic eccrine nevus
Porokeratotic eccrine ostial and dermal duct nevus
Porphyria cutanea tarda
Porphyria due to ALA dehydratase deficiency
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Porphyria variegata
Postaxial acrodysostosis
Postaxial acrofacial dysostosis
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Postaxial syndactyly with metacarpal synostosis
Posterior column ataxia - retinitis pigmentosa
Posterior polar cataract
Posterior polymorphous corneal dystrophy
Posterior polymorphous dystrophy
Posterior subcapsular cataract
Postsynaptic congenital myasthenic syndromes
Potato-grubbing palsy
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
PPB family tumor susceptibility syndrome
PPBFTDS
PPBL
PPC
PPCD
PPK mutilans and deafness
PPK, Nagashima type
PPK-deafness syndrome
PPKP1
PPM-X
PPNAD
PPNET
PPP
PPRCA
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
Prader-Willi-like syndrome due to deletion 6q16
Preaxial acrodysostosis
Preaxial deficiency - postaxial polydactyly - hypospadias
Preaxial polydactyly type 2, bilateral
Preaxial polydactyly type 2, unilateral
Preaxial polydactyly type 4, bilateral
Preaxial polydactyly type 4, unilateral
Precursor B-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia/lymphoma
Precursor B-cell acute lymphocytic leukemia
Precursor B-cell acute lymphocytic leukemia/lymphoma
Precursor T-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia/lymphoma
Precursor T-cell acute lymphocytic leukemia
Precursor T-cell acute lymphocytic leukemia/lymphoma
Preeclampsia
Pregnancy-related cholestasis
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
Premature chromosome condensation with microcephaly and intellectual deficit
Prenatal benign hypophosphatasia
Prenatal benign phosphoethanolaminuria
Prenatal benign Rathburn disease
Presynaptic congenital myasthenic syndromes
Pretibial DEB
Pretibial dystrophic epidermolysis bullosa
Primary acquired sideroblastic anemia
Primary antibody deficiency
Primary biliary cirrhosis
Primary biliary cirrhosis and systemic scleroderma
Primary blepharospasm
Primary calpainopathy
Primary CD59 deficiency
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Primary congenital erythrocytosis
Primary dystonia, DYT4 type
Primary dystonia, DYT6 type
Primary erythermalgia
Primary familial amyloidosis of the cornea
Primary familial and congenital polycythemia
Primary familial polycythemia
Primary Fanconi renotubular syndrome
Primary Fanconi syndrome
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Primary hyperkalemic periodic paralysis
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hyperPP
Primary hypogammaglobulinemia
Primary hypomagnesemia with secondary hypocalcemia
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
Primary insulin-like growth factor deficiency
Primary lateral sclerosis
Primary mediastinal clear cell lymphoma of B-cell type
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 peritoneal carcinoma
Primary peritoneal serous carcinoma
Primary pigmented nodular adrenocortical disease
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Primary sclerosing cholangitis
Primary systemic amyloidosis
Primary systemic carnitine deficiency
Primitive anophthalmia
Proaccelerin deficiency
Progeria
Progeria-associated arthropathy
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progressiva symmetrica erythrokeratodermia
Progressive cephalothoracic lipodystrophy
Progressive cerebello-cerebral atrophy
Progressive cone dystrophy
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
Progressive deforming osteogenesis imperfecta
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive diaphyseal dysplasia
Progressive diffuse palmoplantar keratoderma
Progressive diffuse PPK
Progressive epilepsy - intellectual deficit, Finnish type
Progressive external ophthalmoplegia - myopathy - emaciation
Progressive external ophthalmoplegia and scoliosis
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonic epilepsy type 1
Progressive myoclonic epilepsy type 2
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy with dystonia
Progressive neuronal degeneration of childhood with liver disease
Progressive neurosensory deafness - hypertrophic cardiomyopathy
Progressive neurosensory hearing loss - hypertrophic cardiomyopathy
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
Progressive pseudorheumatoid arthropathy of childhood
Progressive retinal dystrophy due to retinol transport defect
Progressive sensorineural deafness - hypertrophic cardiomyopathy
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Progressive supranuclear palsy - apraxia of speech
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Progressive symmetric erythrokeratodermia
Progressive symmetric erythrokeratodermia, Gottron type
Prolidase deficiency
Proliferative vasculopathy and hydranencephaly/hydrocephaly
Proline oxidase deficiency
Prolonged electroretinal response supression
Properdin deficiency
Propionic acidemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
Protein defect of cystin transport
Proteus syndrome
Proteus-like syndrome
Prothrombin deficiency
Protoporphyrinogen oxidase deficiency
Proud-Levine-Carpenter syndrome
Proximal 11p deletion syndrome
Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
Proximal myotonic dystrophy
Proximal myotonic myopathy
Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit
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
Pruriginous dystrophic epidermolysis bullosa
PSAT deficiency
PSC
Pseudo-Angelman syndrome
Pseudo-Best disease
Pseudo-Hurler polydystrophy
Pseudo-Morquio syndrome type 2
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudo-TORCH syndrome
Pseudo-vitelliform macular dystrophy
Pseudo-Von Willebrand disease
Pseudo-Von Willebrand disease type 2B
Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
Pseudoadrenoleukodystrophy
Pseudoaldosteronism
Pseudohyperaldosteronism type 1
Pseudohyperaldosteronism type 2
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Pseudothalidomide syndrome
Pseudotoxoplasmosis syndrome
Pseudovitamin D-deficient rickets
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum-like syndrome
Pseudoxanthomatous DCM
Pseudoxanthomatous diffuse cutaneous mastocytosis
PSIS
PSP-AOS
PSP-CBS
PSP-corticobasal syndrome
PSP-p
PSP-PAGF
PSP-parkinsonism
PSP-PNFA
PSP-pure akinesia with gait freezing
PSS type A
PSS type B
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
PT-VWD
PTA deficiency
PTC syndrome
Pulmonary alveolar microlithiasis
Pulmonary capillary hemangiomatosis
Pulmonary venoocclusive disease
Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Pulmonic stenosis with 'cafe-au-lait' spots
Pulverulent cataract
Punctate palmoplantar keratoderma type 1
Pure familial acute myeloid leukemia
Pure familial AML
Pure hair and nail ectodermal dysplasia
Pure Joubert syndrome
Puretic syndrome
Purine nucleoside phosphorylase deficiency
Purtilo syndrome
Pustulosis palmaris et plantaris
PV
PXE
PXE-like syndrome
Pycnodysostosis
PYCR1 deficiency
PYCR1-related DeBarsy syndrome
Pyknodysostosis
Pyknolepsy
Pyogenic arthritis - pyoderma gangrenosum - acne
Pyogenic bacterial infections due to MyD88 deficiency
Pyridoxa-phosphate dependent seizures
Pyridoxal phosphate-responsive seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyridoxine-responsive seizures
Pyrroline-5-carboxylate reductase 1 deficiency
Pyruvate carboxylase deficiency type A
Pyruvate carboxylase deficiency type B
Pyruvate carboxylase deficiency type C
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex component E2 deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
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
Pyruvate dehydrogenase protein X component deficiency
Pyruvate kinase deficiency of erythrocytes
QT long syndrome type 7
Quadriceps-sparing myopathy
Quaternary A syndrome
Quebec platelet disorder
Question mark ear syndrome
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
Rabson-Mendenhall syndrome
RAD50 deficiency
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Radial longitidinal meromelia, bilateral
Radial longitidinal meromelia, unilateral
Radicular dentin dysplasia
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
RAE
Raine syndrome
Rambam-Hasharon syndrome
RAPADILINO syndrome
Rapid-onset dystonia-parkinsonism
RAPK
Rare isolated myopia
RARS
RBCD
RCAD syndrome
RDEB generalisata gravis
RDEB generalisata mitis
RDEB, centripetalis
RDEB, Hallopeau-Siemens type
RDEB, non-Hallopeau-Siemens type
RDEB-Ce
RDEB-generalized other
RDEB-I
RDEB-O
RDEB-sev gen
Reactive amyloidosis
REAR syndrome
Recessive congenital methemoglobinemia type 1
Recessive congenital methemoglobinemia type 2
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Recessive dystrophic epidermolysis bullosa-generalized other
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Recessive mitochondrial ataxia syndrome
Recessive X-linked ichthyosis
Recurrent acute necrotizing encephalopathy
Recurrent infection due to specific granule deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Recurrent infections-bone marrow fibrosis-nephromegaly syndrome
Recurrent infections-myelofibrosis-nephromegaly syndrome
Recurrent intrahepatic cholestasis of pregnancy
Recurrent Neisseria infections due to factor D deficiency
Red oculocutaneous albinism
Reducing body myopathy
Refetoff syndrome
Refractory anemia
Refractory anemia with excess blasts
Refractory anemia with ringed sideroblasts
Refsum disease
Reginato-Schiapachasse syndrome
Regressive metaphyseal dysplasia
Reis-Bücklers corneal dystrophy
Remnant disease
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated FJHN
REN-associated kidney disease
Renal coloboma syndrome
Renal cysts - maturity-onset diabetes of the young
Renal cysts and diabetes syndrome
Renal dysfunction - early-onset diabetes
Renal dysplasia - retinal aplasia
Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia
Renal embryonic tumor
Renal glucosuria
Renal hypomagnesemia type 2
Renal hypomagnesemia type 3
Renal pseudohypoaldosteronism type 1
Renal tubular acidosis type 1a
Renal tubular acidosis type 1b
Renal tubular acidosis type 1c
Renal tubular acidosis type 3
Renal tubular dysgenesis of genetic origin
Renal tubulopathy - encephalopathy - liver failure
Renal-ear-anal-radial syndrome
Renal-hepatic-pancreatic dysplasia
Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Rendu-Osler disease
Rendu-Osler-Weber disease
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
Renohepaticopancreatic dysplasia
Resistance to IGF-1
Resistance to thyroid stimulating hormone
Resistance to thyrotropin-releasing hormone syndrome
Reticular dysgenesis
Reticular pigment anomaly of flexures
Reticulate acropigmentation of Kitamura
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy
Retinal detachment - occipital encephalocele
Retinal macular dystrophy type 2
Retinitis pigmentosa
Retinitis punctata albescens
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Retinopathy - anemia- central nervous system anomalies
Retinopathy of prematurity
Retinopathy, Burgess-Black type
Retinoschisis with early nyctalopia
Retrolental fibroplasia
Rett syndrome
Rett syndrome variant
Reversible infantile cytochrome c oxidase deficiency
Reversible infantile respiratory chain deficiency
Revesz-DeBuse syndrome
Reynolds syndrome
RFT1-CDG
Rh deficiency syndrome
Rh-null syndrome
Rhabdoid tumor predisposition syndrome
Rhabdomyomatous dysplasia - cardiopathy - genital anomalies
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
RI-CMT type A
RI-CMT type B
RI-CMT type C
Riboflavin transporter deficiency
Richadson-Kirk syndrome
Richardson syndrome
Richieri Costa-Pereira syndrome
Richner-Hanhart syndrome
Ricker disease
Ricker syndrome
Rieger anomaly
Rieger anomaly - partial lipodystrophy
Rieger syndrome
Rigid spine syndrome
Riley-Day syndrome
RIN2 deficiency
RIN2 syndrome
Ring dermoid of cornea
Ring dermoid syndrome
Rippling muscle disease
Ritscher-Schinzel syndrome
rMED
RNF135-related overgrowth syndrome
Roberts syndrome
Roberts-SC phocomelia syndrome
Robinow-Unger syndrome
Rod monochromacy
Rod monochromatism
Rogers syndrome
Rokitansky sequence
Rolandic epilepsy - speech dyspraxia
Romano-Ward long QT syndrome
Romano-Ward syndrome
ROP
Rosenthal factor deficiency
Rosenthal syndrome
Rothmund-Thomson syndrome type 2
Rotor syndrome
Round-headed spermatozoa
Roussy-Lévy syndrome
RRS
RSH syndrome
RTPS
RTS2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rudd-Klimek syndrome
Rufous oculocutaneous albinism
RXLI
S cone monochromacy
S cone monochromatism
Saccharopine dehydrogenase deficiency
Saccharopinuria
Sack-Barabas syndrome
Sacral agenesis syndrome
Sacral regression syndrome
SADDAN
Saethre-Chotzen syndrome
Saguenay-Lac-St. Jean cytochrome oxidase deficiency
Saguenay-Lac-St. Jean type Leigh syndrome
Saldino-Mainzer syndrome
Salla disease
Salt-and-pepper syndrome
SAM syndrome
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
SANDO
Sandrow syndrome
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Sanjad-Sakati syndrome
Santavuori congenital muscular dystrophy
Sarcoidosis
Sarcosine dehydrogenase complex deficiency
Sarcosinemia
Sarcotubular myopathy
Say-Barber-Biesecker-Young-Simpson syndrome
SBBYSS
SBCAD deficiency
SBMA
SC phocomelia
SC pseudothalidomide syndrome
SCA1
SCA10
SCA11
SCA12
SCA13
SCA14
SCA15/16
SCA17
SCA18
SCA19/22
SCA2
SCA23
SCA26
SCA27
SCA28
SCA29
SCA3, Joseph type
SCA3, Machado type
SCA31
SCA35
SCA36
SCA4
SCA5
SCA6
SCA7
SCA8
SCAD deficiency
SCADD
SCAE
Scalp-ear-nipple syndrome
SCAN 2
SCAN1
Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit
Scapuloperoneal amyotrophy
SCAR1
SCAR10
SCAR11
SCAR12
SCAR14
SCAR5
SCAR7
SCAR8
SCAR9
SCCD
SCD
SCHAD deficiency
Schöpf-Schulz-Passarge syndrome
Scheie syndrome
Schimke immuno-osseous dysplasia
Schimke syndrome
Schimmelpenning syndrome
Schindler disease type 1
Schindler disease type 2
Schindler disease type 3
Schinzel syndrome
Schinzel-Giedion syndrome
Schizencephaly
Schlichting dystrophy
Schneckenbecken dysplasia
Schnyder corneal dystrophy
Schnyder crystalline corneal dystrophy
Schnyder crystalline dystrophy sine crystals
Schwannomatosis
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
SCID due to adenosine deaminase deficiency
SCID due to artemis deficiency
SCID due to CARD11 deficiency
SCID due to complete RAG1/2 deficiency
SCID due to CORO1A deficiency
SCID due to coronin-1A deficiency
SCID due to DCLRE1C deficiency
SCID due to DNA-PKcs deficiency
SCID due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
SCID with leukopenia
SCID, Athabascan type
SCID, Athabaskan type
SCIDX1
Scleroatonic muscular dystrophy
Sclerosteosis
SCN4
SCOT deficiency
Scott syndrome
Scott-Taor syndrome
SCRA
SCS
SD/THE
SD2, Debeer type
SD2, Vordingborg type
SD2a
SD2b
SD3
SD5
SDCD, CHST3 type
sdCHC
SDHx-related paraganglioma-pheochromocytoma
SDYS
Sea-blue histiocytosis
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
SEC23B-CDG
Seckel syndrome
Secondary amyloidosis
Secondary hypertrophic osteoperiostosis with pernio
SECORD
SEDC
Sedlackova syndrome
Seemanova syndrome type 2
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
SEI
Seitelberger disease
Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance
Selective cobalamin malabsorption with proteinuria
Selective IgG subclass deficiency
Selective pituitary resistance to thyroid hormone
Selective tooth agenesis
Self-healing collodion baby
Self-healing squamous epithelioma type 1
Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
SEMD type 2
SEMD, aggrecan type
SEMD, MATN3-related
SEMD, matrilin-3 type
SEMD, Missouri type
SEMD-JL
SEMD-MD
SEMDJL1
SEMDJL2
Semilobar holoprosencephaly
Seminoma of the testis
Seminomatous germ cell tumor of the testis
SENDA
Sengers syndrome
Senior-Boichis syndrome
Senior-Loken syndrome
Sensenbrenner syndrome
Sensorineural deafness with dilated cardiomyopathy
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss - pontobulbar palsy
Sensorineural hearing loss with dilated cardiomyopathy
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Senter syndrome
SEOAN due to MFN2 deficiency
Sepiapterin reductase deficiency
Septo-optic dysplasia
Septo-optic dysplasia spectrum
Septopreoptic holoprosencephaly
Septopreoptic HPE
SERKAL syndrome
Serous surface papillary carcinoma
Serum neuritis
SeSAME syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Severe Canavan disease
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency with leukopenia
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
Severe congenital encephalopathy due to MECP2 mutation
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
Severe congenital nemaline myopathy
Severe congenital neutropenia - pulmonary hypertension - superficial venous angiectasis
Severe congenital neutropenia 4
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe dystrophinopathy, Duchenne type
Severe early-childhood-onset retinal dystrophy
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe factor IX deficiency
Severe factor VIII deficiency
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Severe generalized RDEB
Severe generalized recessive dystrophic epidermolysis bullosa
Severe hemophilia A
Severe hemophilia B
Severe infantile axonal neuropathy with respiratory failure
Severe intellectual deficit and progressive spastic paraplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Severe limb deficit
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe myoclonic epilepsy of infancy
Severe neonatal-onset encephalopathy with microcephaly
Severe neurodegenerative syndrome due to BSCL2 deficiency
Severe neurodegenerative syndrome with lipodystrophy
Severe osteogenesis imperfecta
Severe PMD
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy
Severe X-linked mitochondrial encephalomyopathy
Sex reversion - kidneys, adrenal and lung dysgenesis
SGBS
SGBS1
SGBS2
SGLT1 deficiency
SGLT2 deficiency
SGS
Shabbir syndrome
Shah-Waardenburg syndrome
SHCB
Sheldon-Hall syndrome
SHFLD syndrome
SHFM
SHFM associated with aplasia of long bones
Short chain acyl-CoA dehydrogenase deficiency
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Verma-Naumoff type
Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia
Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
Short stature - pituitary and cerebellar defects - small sella turcica
Short stature due to GHSR deficiency
Short stature due to growth hormone qualitative anomaly
Short stature due to growth hormone resistance
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Short stature due to partial GHR deficiency
Short stature due to partial growth hormone receptor deficiency
Short stature due to primary acid-labile subunit deficiency
Short stature due to STAT5b deficiency
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 syndrome
Short/branched-chain acyl-coA dehydrogenase deficiency
Shox-related short stature
Shprintzen syndrome
Shprintzen-Goldberg syndrome
Shwachman-Diamond syndrome
Sialidosis type 1
Sialuria
Sialuria, French type
SIANRF
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Sickle cell disease
SIDDT
Silver Syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Single upper central incisor
Single ventricular septal defect
Sinoatrial node dysfunction and deafness
Sipple syndrome
Sitosterolemia
Situs ambiguous
Situs ambiguus
Situs inversus
Situs inversus totalis
Sjögren-Larsson syndrome
SJS
SJS1
Skeletal dysplasia, Greenberg type
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
SLC35A1-CDG
SLC35A2-CDG
SLC35A3-CDG
SLC35C1-CDG
SLC35D1-CDG
SLE, pediatric onset
SLOS
SLSJ-COX deficiency
SLSN
Sly disease
SMA type 3
SMA-I
SMA-II
SMA-III
SMA-IV
SMA1
SMA2
SMA3
SMA4
SMALED1
SMALED2
Small lymphocytic lymphoma
Small non-cleaved cell lymphoma
Small patella syndrome
SMARD
SMARD1
SMAX2
SMD-CRD
SMEI
Smith-Fineman-Myers syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia
SMMCI
Smouldering systemic mastocytosis
Snowflake vitreoretinal degeneration
Snyder-Robinson syndrome
SOD
Sodium channelopathy-related small fiber neuropathy
SOFT syndrome
SOLAMEN syndrome
Solitary fibrous tumor
Solitary mastocytoma
Solitary median maxillary central incisor syndrome
Solomon syndrome
Sommer-Young-Wee-Frye syndrome
SOPH syndrome
Sorsby's fundus dystrophy
Sotos syndrome
Southeast Asian ovalocytosis
SPARCA
SPARCA1
Spastic gait type 2
Spastic paraparesis type 2
Spastic paraplegia - intellectual deficit - thin corpus callosum
Spastic paraplegia - Paget disease of bone
Spastic paraplegia - retinal degeneration
Spastic paraplegia due to neuropathy target esterase mutation
Spastic paraplegia due to NTE mutation
Spastic paraplegia type 2
Spastic paraplegia-amyotrophy of hands and feet
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spasticity - intellectual deficit - X-linked epilepsy
SPAX1
SPAX3
SPAX4
SPAX5
SPD, Debeer type
SPD, Vordingborg type
SPD1
SPD2
Spectrin-associated autosomal recessive cerebellar ataxia
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
SPENCD
SPG1
SPG10
SPG11
SPG12
SPG13
SPG15
SPG17
SPG18
SPG2
SPG20
SPG21
SPG26
SPG28
SPG30
SPG31
SPG35
SPG39
SPG4
SPG42
SPG43
SPG44
SPG45
SPG46
SPG48
SPG49
SPG53
SPG54
SPG55
SPG56
SPG58
SPG5A
SPG6
SPG7
SPG8
Spheroid body myopathy
Spherophakia - brachymorphia
Spinal and bulbar muscular atrophy
Spinal muscular atrophy with arthrogryposis
Spinal muscular atrophy with respiratory distress
Spinal muscular atrophy, adult form
Spinobulbar muscular atrophy
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 with axonal neuropathy
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 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8
Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia with epilepsy
Split hand - split foot - deafness
Split hand foot malformation
Split hand-split foot malformation
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
SPOAN
Spondylo-humero-femoral dysplasia
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondylocarpotarsal synostosis
Spondyloenchondrodysplasia
Spondyloenchondromatosis
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia type 2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity type 1
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, anauxetic type
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepiphyseal dysplasia - nephrotic syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda - progressive arthropathy
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia - cone-rod dystrophy
Spondylometaphyseal dysplasia with enchondromatous changes
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sutcliffe type
Spondyloperipheral dysplasia - short ulna
Spongy myocardium
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Sporadic infantile subacute necrotizing encephalopathy
Sporadic Leigh disease
Sporadic Leigh syndrome
Sporadic olivopontocerebellar atrophy type 1
Sporadic OPCA type 1
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
SPR deficiency
Spranger-Wiedemann disease
Sprinz-Nelson syndrome
SPS
SQTS
Squamous cell carcinoma of head and neck
SRD5A3-CDG
SSPS
SSR4-CDG
SSS
Stapes ankylosis with broad thumbs and toes
STAR syndrome
Stargardt disease
Stark-Kaeser syndrome
Static encephalopathy of childhood with neurdegeneration in adulthood
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome
Steatocystoma multiplex
Steele-Richardson-Olszewski disease
Steely hair disease
Steely hair syndrome
Steinert disease
Steinert myotonic dystrophy
Stem cell leukemia/lymphoma
Sterile multifocal osteomyelitis with periostitis and pustulosis
Steroid sulfatase deficiency
Sterol 27-hydroxylase deficiency
Sterol C5-desaturase deficiency
Stevens-Johnson syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome type 3
Stickler syndrome, nonocular type
Stiff baby syndrome
Stiff skin syndrome
Still disease
Stilling-Turk-Duane syndrome
Stomatin-deficient cryohydrocytosis
Strümpell disease
Striate palmoplantar keratoderma
STT3A-CDG
STT3B-CDG
Stuart-Prower factor deficiency
Sturge-Weber syndrome
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
Subacute myeloid leukemia
Subacute spongiform encephalopathy, Gerstmann-Straussler type
Subcortical band heterotopia
Subcortical laminar heterotopia
Subepithelial amyloidosis of the cornea
Subtelomeric 1p36 deletion
Succinic semialdehyde dehydrogenase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Sudden infant death - dysgenesis of the testes
Sudden unexplained nocturnal death syndrome
Sujansky-Leonard 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
Sulfocysteinuria
SUNDS
Superficial epidermolytic ichthyosis
Superficial granular corneal dystrophy
Supravalvar aortic stenosis
Supravalvular aortic stenosis
SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related CMT4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Susceptibility to viral and mycobacterial infections
SVAS
Sveinsson chorioretinal atrophy
SWS
Swyer syndrome
Sympathoblastoma
Symphalangism - brachydactyly
Symphalangism, Cushing type
Symptomatic form of hemophilia A in female carriers
Symptomatic form of hemophilia B in female carriers
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Synaptic congenital myasthenic syndromes
Syncopal paroxysmal tachycardia
Syncopal tachyarythmia
Syndactyly - telecanthus - anogenital and renal malformations
Syndactyly of fingers 4 and 5
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly type 7
Syndactyly type 8
Syndactyly-ectodermal dysplasia-cleft/lip palate
Syndromatic diarrhea
Syndrome 'cherry-red spot-myoclonus'
Syndrome de Myhre-Rikey-Smith
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndromic bile duct paucity due to a JAG1 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation
Syndromic bile duct paucity due to monosomy 20p12
Syndromic diarrhea
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Syndromic microphthalmia type 3
Syndromic microphthalmia type 5
Syndromic microphthalmia type 6
Syndromic microphthalmia type 7
Syndromic microphthalmia type 8
Syndromic microphthalmia type 9
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Syndromic Moyamoya disease
Syndromic multisystem autoimmune disease due to Itch deficiency
Syndromic recessive X-linked ichthyosis
Syndromic RXLI
Syndromic X-linked ichthyosis
Syndromic X-linked intellectual deficit due to JARID1C mutation
Syndromic X-linked intellectual disability type 10
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
Synostotic plagiocephaly
Synovial sarcoma
Synovialosarcoma
Synpolydactyly type 1
Synpolydactyly type 2
Synpolydactyly, Debeer type
Synpolydactyly, Vordingborg type
Synspondylism
Syntelencephaly
Systemic AL amyloidosis
Systemic immunoglobulinic amyloidosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Systemic polyarthritis
Systemic primary carnitine deficiency
Systemic sclerosis sine scleroderma
Systemic-onset juvenile idiopathic arthritis
T-ALL
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD45 deficiency
T-B+ SCID due to gamma chain deficiency
T-B+ SCID due to IL-7Ralpha deficiency
T-B+ SCID due to JAK3 deficiency
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 gamma chain 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, X-linked
T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
TAC
Takao syndrome
Takayasu arteritis
TALDO
Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava
Tall stature - scoliosis - macrodactyly of the great toes
Tall stature - scoliosis - macrodactyly of the halluces
Tangier disease
Tapetochoroidal dystrophy
Tappeiner-Pfleger disease
TAR syndrome
TARP syndrome
Tarsal-carpal coalition syndrome
Tarui disease
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
TBCD
TBS
TCP
TD1
TD2
TDO syndrome
Telangiectasia macularis eruptiva perstans
Telomeric 15q deletion
Telomeric deletion 17p
Telomeric deletion 1q
Telomeric deletion 4p
Telomeric duplication Xq
Telomeric monosomy 3p
Temperature-sensitive oculocutaneous albinism type 1
Temporal arteritis
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Temtamy-Shalash syndrome
Ter Haar syndrome
Terminal osseous dysplasia - pigmentary defects
Tessier number 4 facial cleft
Testicular dysgerminoma
Testicular dysgerminomatous germ cell tumor
Testicular non seminomatous germ cell tumor
Testicular non-dysgerminomatous germ cell tumor
Testicular regression syndrome
Testicular seminoma
Testicular seminomatous germ cell tumor
Testotoxicosis
Tetraamelia - multiple malformations
Tetrahydrobiopterin-responsive HPA/PKU
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Tetralogy of Fallot
Teunissen-Cremers syndrome
TFP deficiency
TFPD
TFR2-related hemochromatosis
TH-SHFM
Thanatophoric dwarfism - cloverleaf skull
Thanatophoric dwarfism type 1
Thanatophoric dwarfism type 2
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine-responsive BCKD deficiency
Thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency
Thiamine-responsive encephalopathy
Thiamine-responsive maple syrup urine disease
Thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thiamine-responsive MSUD
Thiel-Behnke corneal dystrophy
Thiopurine S-methyltransferase deficiency
Thomas type SCA3
Thomsen and Becker disease
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
THR resistance syndrome
Thrombocytopenia - absent radius
Thrombocytopenia with congenital dyserythropoietic anemia
Thyroid dyshormonogenesis
Thyroid hypoplasia
Thyrotoxic hypokalemic periodic paralysis
Thyrotoxic periodic paralysis
Tibial aplasia - ectrodactyly
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
Tibial muscular dystrophy
Tietz syndrome
Timothy syndrome
TMD
TMEM165-CDG
TNDM
TNF receptor 1 associated periodic syndrome
Toes absent, bilateral
Toes absent, unilateral
Tomaculous neuropathy
Tooth and nail syndrome
Torg-Winchester syndrome
Total color blindness
Total congenital cataract
Total spina bifida aperta
Total spina bifida cystica
Touraine-Solente-Gole syndrome
Townes syndrome
Townes-Brocks syndrome
TPT-PS syndrome
Transaldolase deficiency
Transcobalamin deficiency
Transcobalamin II deficiency
Transcortin deficiency
Transgrediens et progrediens palmoplantar keratoderma
Transgrediens et progrediens PPK
Transgrediens palmoplantar keratoderma of Siemens
Transient bullous dermolysis of the newborn
Transient familial neonatal hyperbilirubinemia
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Transient neonatal diabetes mellitus
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2
Transient neonatal MAD deficiency
Transient neonatal MADD
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Transitional PMD
Translocation carcinoma
Translocation renal cell carcinoma
Transthyretin amyloid cardiopathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
Transthyretin-related familial amyloid cardiomyopathy
TRAPS syndrome
Treacher-Collins syndrome
Tricho-dento-osseous syndrome
Tricho-hepato-enteric syndrome
Trichopoliodystrophy
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
Trichothiodystrophy
Trigonocephaly C syndrome
Triose phosphate-isomerase deficiency
Triphalangeal thumb - polysyndactyly syndrome
Triple A syndrome
Triple H syndrome
Trismus - pseudocamptodactyly
Trisomy 14q11.2
Trisomy 17p11.2
Trisomy 17p13.3
Trisomy 17q11.2
Trisomy 22q11.2
Trisomy 5p13
Trisomy 5q35
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Trisomy Xq28
Tritan colour blindness
Tritanopia
TRMA
Tropical calcific chronic pancreatitis
Tropical pancreatitis
Troyer syndrome
TRS
True hermaphroditism
True microcephaly
Truncus arteriosus
TS OCA type 1
TTR amyloid neuropathy
TTR-related amyloid cardiomyopathy
TTR-related cardiac amyloidosis
Tuberculosis
Tuberous sclerosis
Tuberous sclerosis complex
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Tubular aggregate myopathy
Tufting enteropathy
Tulip-bulb digger's palsy
Tumor necrosis factor receptor 1 associated periodic syndrome
Tumor susceptibility linked to germline BAP1 mutations
Turban tumor syndrome
Turcot syndrome with polyposis
Turner-Kieser syndrome
Tylosis - oesophageal carcinoma
Typical nemaline myopathy
Typical urticaria pigmentosa
Tyrosinase-negative oculocutaneous albinism
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Tyrosinemia type II
Tyrosinemia type III
UCMD
Udd myopathy
UGT deficiency type 1
UGT deficiency type 2
UIP
ULD
Ulick syndrome
Ullrich disease
Ulnar-mammary syndrome
Ulnar-mammary syndrome of Pallister
UMOD-associated familial juvenile hyperuricemic nephropathy
UMOD-associated FJHN
UMPH1 deficiency
UMS
Unclassified chronic myeloproliferative disease
Undifferentiated myeloproliferative disease
Unilateral megalencephaly
Unilateral multicystic renal dysplasia
Unilateral PPD2
Unilateral renal dysplasia
Unilateral retinoblastoma
Universal melanosis
Unverricht-Lundborg disease
UPD(14)mat
UPD(14)pat
UPD(15)mat
UPD(6)pat
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Upshaw-Schulman syndrome
Urbach-Wiethe disease
Urban-Rifkin-Davis syndrome
Urethral obstruction sequence
Uridine 5' monophosphate hydrolase deficiency
Uridine monophosphate synthetase deficiency
Urocanic aciduria
Urofacial syndrome
Urticaria - deafness - amyloidosis
USH1
USH2
USH3
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Usual interstitial pneumonia
UV-sensitive syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
v-AT
VACTERL association
VACTERL with hydrocephalus
VACTERL/VATER association
Vacuolar myopathy
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van Buchem disease
Van den Ende-Gupta syndrome
Van der Hoeve syndrome
Van der Knaap syndrome
Van der Woude syndrome
Van Maldergem syndrome
Vanishing testes syndrome
Vanishing testis syndrome
Vaquez disease
Variant phenylketonuria
Variant PKU
Variegate porphyria
VATER association
Váradi syndrome
Váradi-Papp syndrome
Västerbotten dystrophy
VCAN-related vitreoretinopathy
VDDI
VDDR II
VDDR-I
VDEGS
VDRR II
Velocardiofacial syndrome
Venous malformations with glomus cells
Verloes-David syndrome
Very long chain acyl-CoA dehydrogenase deficiency
VHL
Vici syndrome
Viljoen-Smart syndrome
Virilizing ovarian tumor
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Vitamin B12-responsive methylmalonic aciduria type cblA
Vitamin B12-responsive methylmalonic aciduria, type cblB
Vitamin B12-responsive methylmalonic aciduria, type cblDv2
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Vitamin B12-unresponsive methylmalonic aciduria type mut-
Vitamin B12-unresponsive methylmalonic aciduria type mut0
Vitamin B6-responsive seizures
Vitamin D dependent rickets type I
Vitamin D-dependency type I
Vitamin D-dependent rickets type II
Vitamin D-resistant rickets type II
Vitelliform macular dystrophy type 2
Vitiligo-associated autoimmune disease
Vitreoretinal degeneration, Wagner type
VLCAD deficiency
VLCADD
VMCM
VMGLOM
VODI syndrome
Vohwinkel syndrome
Vohwinkel syndrome - ichthyosis
Volubilis syndrome
Von Hippel-Lindau disease
Von Hippel-Lindau syndrome
Von Hippel-Lindau-dependent polycythemia
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
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
Von Willebrand disease, platelet type
Vuopala disease
VWS
Waardenburg anophthalmia syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2 with ocular albinism
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Waardenburg syndrome with limb anomalies
Waardenburg-Hirschsprung syndrome
Waardenburg-Jonker corneal dystrophy
Waardenburg-Shah syndrome
WABS
Wagenmann-Froboese syndrome
Wagner disease
Wagner syndrome
WAGR syndrome
Waldenström macroglobulinemia
Walker-Warburg syndrome
Walt Disney dwarfism
WARBM
Warburg micro syndrome
Warburton-Anyane-Yeboa syndrome
Warman-Mulliken-Hayward syndrome
Warsaw breakage syndrome
Warts-hypogammaglobulinemia-infections-myelokathexis
WAS
Watson syndrome
WDLS
Weaver syndrome
Wegener granulomatosis
Weill-Marchesani syndrome
Weissenbacher- Zweymuller syndrome
Well-differentiated liposarcoma
Well-differentiated thyroid carcinoma
Werdnig-Hoffmann disease
Wermer syndrome
Werner mesomelic syndrome
Werner syndrome
West syndrome
Westphall disease
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
WHIM syndrome
Whistling face syndrome
White sponge nevus
White sponge nevus of Cannon
Wieacker-Wolff syndrome
Wiedemann-Steiner syndrome
Willebrand disease type 1
Willebrand disease type 3
Williams syndrome
Williams-Beuren syndrome
Wilms tumor
Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit
Wilms tumor and pseudohermaphroditism
Wilson disease
Wilson-Turner syndrome
Winchester syndrome
Winged helix deficiency
Winged scapula
Wiskott-Aldrich syndrome
Witkop syndrome
Witschel dystrophy
WL syndrome
WNT4 deficiency
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Woodhouse-Sakati syndrome
Woolly hair
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Wooly hair
Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Worth syndrome
Wrinkled skin syndrome
Wrinkly skin syndrome
WRS
WS
WS4
WS4 plus
WSS
WWS
X-linked acqueductal stenosis
X-linked agammaglobulinemia
X-linked Alport syndrome
X-linked Angelman-like syndrome
X-linked anhidrotic ectodermal dysplasia
X-linked bulbospinal amyotrophy
X-linked cardioskeletal myopathy and neutropenia
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
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 chondrodysplasia punctata type 2
X-linked cleft palate and ankyloglossia
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
X-linked congenital adrenal hypoplasia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
X-linked congenital generalized hypertrichosis
X-linked copper deficiency
X-linked creatine transporter deficiency
X-linked cutis laxa
X-linked deafness - intellectual deficit syndrome
X-linked deafness type 2
X-linked dHMN
X-linked diffuse leiomyomatosis - Alport syndrome
X-linked distal arthrogryposis multiplex congenita
X-linked distal hereditary motor neuropathy
X-linked distal spinal muscular atrophy
X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia
X-linked dominant chondrodysplasia punctata
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dSMA
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked dysplasia gigantism syndrome
X-linked dystonia-parkinsonism
X-linked Emery-Dreifuss muscular dystrophy
X-linked epilepsy - learning disabilities - behavior disorders
X-linked HSAS
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked hypophosphatemic rickets
X-linked ichthyosis
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked incomplete achromatopsia
X-linked infantile spinal muscular atrophy
X-linked intellectual deficit - cardiomegaly - congestive heart failure
X-linked intellectual deficit - cerebellar hypoplasia
X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
X-linked intellectual deficit - dystonia - dysarthria
X-linked intellectual deficit - gynecomastia - obesity
X-linked intellectual deficit - hypotonia
X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus
X-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia
X-linked intellectual deficit - nail dystrophy - seizures
X-linked intellectual deficit - seizures - short stature - midface hypoplasia
X-linked intellectual deficit with isolated growth hormone deficiency
X-linked intellectual deficit with marfanoid habitus
X-linked intellectual deficit, Cabezas type
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Najm type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, South African type
X-linked intellectual deficit, Sutherland-Haan type
X-linked intellectual disability due to GRIA3 anomalies
X-linked intellectual disability, Hedera type
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
X-linked isolated neurosensory deafness type DFN
X-linked isolated neurosensory hearing loss type DFN
X-linked isolated sensorineural deafness type DFN
X-linked isolated sensorineural hearing loss type DFN
X-linked juvenile retinoschisis
X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies
X-linked lissencephaly type 1
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lymphoproliferative disease
X-linked McLeod syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
X-linked mental retardation with marfanoid habitus
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
X-linked mixed deafness with perilymphatic gusher
X-linked MSMD due to CYBB deficiency
X-linked MSMD due to IKBKG deficiency
X-linked MSMD due to NEMO deficiency
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked non progressive cerebellar ataxia
X-linked non-specific intellectual deficit
X-linked non-syndromic intellectual deficit
X-linked nonsyndromic neurosensory deafness type DFN
X-linked nonsyndromic neurosensory hearing loss type DFN
X-linked nonsyndromic sensorineural deafness type DFN
X-linked nonsyndromic sensorineural hearing loss type DFN
X-linked Opitz BBB/G syndrome
X-linked Opitz G/BBB syndrome
X-linked Opitz syndrome
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked recessive ocular albinism
X-linked retinoschisis
X-linked severe congenital neutropenia
X-linked sideroblastic anemia
X-linked sideroblastic anemia - ataxia
X-linked spastic paraplegia type 2
X-linked spinal muscular atrophy type 2
X-linked stapes gusher syndrome
X-linked thrombocytopenia with normal platelets
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Xanthine dehydrogenase deficiency
Xanthine oxidase deficiency
Xanthine oxidoreductase deficiency
Xanthinuria type I
Xanthinuria type II
Xanthomatosis with sisterolemia
Xanthous oculocutaneous albinism
Xanthurenic aciduria
XDAT
XDH and AOX dual deficiency
XDH deficiency
XDP
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group C
Xeroderma pigmentosum complementation group D
Xeroderma pigmentosum complementation group E
Xeroderma pigmentosum complementation group F
Xeroderma pigmentosum complementation group G
Xeroderma pigmentosum variant
XGPT deficiency
XHED
XHIGM
XLAG syndrome
XLCNM
XLDPP
XLG
XLH
XLI
XLMR with marfanoid habitus
XLMTM
XLOA
XLOS
XLP
XLRS
XLSA
XLTT
XMEA
XMEN
XO deficiency
XOR deficiency
XPA
XPB
XPC
XPD
XPDS
XPE
XPF
XPG
XPV
Xq22.3 microdeletion syndrome
Xq27.3-q28 microduplication syndrome
Xq27.3q28 duplication syndrome
XX female gonadal dysgenesis
XX gonodal dysgenesis - deafness
XX, male syndrome
XX-GD
XY sex reversal - adrenal failure
Xylitol dehydrogenase deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency
XYLT1-CDG
Yakut short stature syndrome
Yellow oculocutaneous albinism
Yorifuji-Okuno syndrome
Young adult-onset dHMN
Young adult-onset distal hereditary motor neuropathy
Young adult-onset Parkinsonism
Young-onset Parkinson disease
Yunis-Varon syndrome
ZASP-related myofibrillar myopathy
ZASPopathy
Zellweger syndrome
Zellweger-like contiguous gene deletion syndrome
Zeta-associated-protein 70 deficiency
Zimmer phocomelia
Zinsser-Engman-Cole syndrome
Zlotogora-Ogur syndrome
Zlotogora-Zilberman-Tenenbaum syndrome
Zollinger-Ellison syndrome
Zonular cataract
ZS
Zunich-Kaye syndrome


Genes included in ODCs:

AAAS
AAGAB
AARS
AARS2
AASS
ABAT
ABCA1
ABCA12
ABCA3
ABCA4
ABCB11
ABCB4
ABCB6
ABCB7
ABCC2
ABCC6
ABCC8
ABCC9
ABCD1
ABCD4
ABCG5
ABCG8
ABHD12
ABHD5
ABL1
ACAD8
ACAD9
ACADL
ACADM
ACADS
ACADSB
ACADVL
ACAN
ACAT1
ACE
ACO2
ACOX1
ACP2
ACP5
ACSF3
ACSL4
ACTA1
ACTA2
ACTB
ACTC1
ACTG1
ACTG2
ACTN1
ACTN2
ACTN4
ACVR1
ACVR2B
ACVRL1
ACY1
ADA
ADAM10
ADAM17
ADAM9
ADAMTS10
ADAMTS13
ADAMTS17
ADAMTS18
ADAMTS2
ADAMTSL2
ADAMTSL4
ADAR
ADAT3
ADCK3
ADCK4
ADCY10
ADCY5
ADD3
ADK
ADORA2A
ADRA2B
ADSL
AFF1
AFF2
AFG3L2
AFP
AGA
AGBL1
AGGF1
AGK
AGL
AGPAT2
AGPS
AGRN
AGT
AGTR1
AGTR2
AGXT
AHCY
AHI1
AICDA
AIFM1
AIMP1
AIP
AIPL1
AIRE
AK1
AK2
AKAP9
AKR1C2
AKR1C4
AKR1D1
AKT1
AKT2
AKT3
ALAD
ALAS2
ALB
ALDH18A1
ALDH1A3
ALDH3A2
ALDH4A1
ALDH5A1
ALDH6A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG10
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ALK
ALMS1
ALOX12B
ALOXE3
ALPL
ALS2
ALX1
ALX3
ALX4
AMACR
AMELX
AMER1
AMH
AMHR2
AMMECR1
AMN
AMPD1
AMPD2
AMPD3
AMT
ANG
ANK1
ANK2
ANK3
ANKH
ANKRD11
ANKRD26
ANKRD55
ANKS6
ANO10
ANO3
ANO5
ANO6
ANTXR1
ANTXR2
AP1S1
AP1S2
AP2S1
AP3B1
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APC
APCDD1
APOA1
APOA2
APOA5
APOB
APOC2
APOC3
APOE
APOL1
APP
APRT
APTX
AQP2
AQP5
AR
ARFGEF2
ARG1
ARHGAP24
ARHGAP31
ARHGDIA
ARHGEF10
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARL11
ARL13B
ARL2BP
ARL6
ARMC4
ARMC5
ARNT2
ARSA
ARSB
ARSE
ARVCF
ARX
ASAH1
ASCL1
ASL
ASNS
ASPA
ASPM
ASPSCR1
ASS1
ASXL1
ASXL3
ATCAY
ATF1
ATIC
ATL1
ATL3
ATM
ATN1
ATOH7
ATP10A
ATP11A
ATP13A2
ATP1A2
ATP1A3
ATP2A1
ATP2A2
ATP2B3
ATP2C1
ATP5A1
ATP5E
ATP6AP2
ATP6V0A2
ATP6V0A4
ATP6V1B1
ATP7A
ATP7B
ATP8A2
ATP8B1
ATPAF1
ATPAF2
ATR
ATRIP
ATRX
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
ATXN8
AUH
AURKC
AUTS2
AVP
AVPR2
AXIN2
B2M
B3GALNT2
B3GALT6
B3GALTL
B3GAT3
B3GNT1
B4GALNT1
B4GALT1
B4GALT7
B9D1
B9D2
BAAT
BAG3
BANF1
BAP1
BARD1
BAZ1B
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCHE
BCKDHA
BCKDHB
BCKDK
BCL11A
BCL2
BCL6
BCL7B
BCMO1
BCOR
BCR
BCS1L
BDNF
BEAN1
BEST1
BFSP1
BFSP2
BHLHA9
BICC1
BICD2
BIN1
BIRC3
BLK
BLM
BLNK
BLOC1S3
BLOC1S6
BLVRA
BMP1
BMP15
BMP2
BMP4
BMPER
BMPR1A
BMPR1B
BMPR2
BMS1
BOLA3
BPGM
BRAF
BRCA1
BRCA2
BRCC3
BRIP1
BSCL2
BSND
BTD
BTK
BTNL2
BTRC
BUB1
BUB1B
BUB3
C10ORF11
C10ORF2
C11ORF95
C12ORF57
C12ORF65
C15ORF41
C19ORF12
C1QA
C1QB
C1QC
C1QTNF5
C1R
C1S
C2
C21ORF59
C2ORF71
C3
C4A
C4B
C4ORF26
C5
C5ORF42
C6
C7
C8A
C8B
C8G
C8ORF37
C9
C9ORF72
CA2
CA4
CA8
CABP2
CABP4
CACNA1A
CACNA1C
CACNA1D
CACNA1F
CACNA1H
CACNA1S
CACNA2D1
CACNA2D2
CACNA2D4
CACNB2
CACNB4
CACNG2
CALM1
CALR
CAMKMT
CAMTA1
CANT1
CAPN3
CAPN5
CARD11
CARD14
CARD9
CARS
CASC5
CASK
CASP10
CASP8
CASQ2
CASR
CAT
CATSPER1
CATSPER2
CAV1
CAV3
CBFA2T3
CBFB
CBL
CBLN2
CBS
CBX2
CC2D1A
CC2D2A
CCBE1
CCDC103
CCDC11
CCDC114
CCDC39
CCDC40
CCDC50
CCDC6
CCDC65
CCDC78
CCDC8
CCDC88C
CCM2
CCND1
CCR6
CCT5
CD109
CD151
CD19
CD247
CD27
CD2AP
CD320
CD3D
CD3E
CD3G
CD40
CD40LG
CD46
CD59
CD79A
CD79B
CD81
CD8A
CD96
CDAN1
CDC6
CDC73
CDH1
CDH15
CDH23
CDH3
CDHR1
CDK4
CDK5RAP2
CDK6
CDKL5
CDKN1A
CDKN1B
CDKN1C
CDKN2A
CDKN2B
CDKN2C
CDKN2D
CDON
CDSN
CDT1
CEACAM16
CEBPA
CEBPE
CECR1
CEL
CENPJ
CEP135
CEP152
CEP164
CEP290
CEP41
CEP57
CEP63
CEP89
CERKL
CERS3
CETP
CFB
CFC1
CFD
CFH
CFHR1
CFHR3
CFHR5
CFI
CFL2
CFP
CFTR
CHAT
CHD2
CHD7
CHEK2
CHKB
CHL1
CHM
CHMP1A
CHMP2B
CHMP4B
CHN1
CHRDL1
CHRM3
CHRNA1
CHRNA2
CHRNA4
CHRNA7
CHRNB1
CHRNB2
CHRND
CHRNE
CHRNG
CHST14
CHST3
CHST6
CHST8
CHSY1
CIB2
CIITA
CIRH1A
CISD2
CITED2
CLCA4
CLCF1
CLCN1
CLCN2
CLCN5
CLCN7
CLCNKA
CLCNKB
CLDN1
CLDN14
CLDN16
CLDN19
CLEC7A
CLIC2
CLIP2
CLMP
CLN3
CLN5
CLN6
CLN8
CLPP
CLRN1
CLTC
CNBP
CNGA1
CNGA3
CNGB1
CNGB3
CNNM2
CNNM4
CNOT3
CNTN1
CNTN2
CNTN4
CNTNAP2
COA5
COCH
COG1
COG4
COG5
COG6
COG7
COG8
COL10A1
COL11A1
COL11A2
COL14A1
COL17A1
COL18A1
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
COL4A6
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COL7A1
COL8A2
COL9A1
COL9A2
COL9A3
COLEC11
COLQ
COMP
COMT
COQ2
COQ6
COQ9
CORO1A
COX10
COX14
COX15
COX20
COX4I2
COX6B1
COX7B
CP
CPA6
CPOX
CPS1
CPT1A
CPT2
CR2
CRADD
CRB1
CRBN
CREB1
CREB3L1
CREB3L2
CREB3L3
CREBBP
CRELD1
CRH
CRKL
CRLF1
CRTAP
CRX
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGB
CRYGC
CRYGD
CRYGS
CRYM
CSF1R
CSF2RA
CSF2RB
CSF3R
CSNK1D
CSPP1
CSRP3
CST3
CSTA
CSTB
CTC1
CTCF
CTDP1
CTGF
CTH
CTLA4
CTNNA3
CTNNB1
CTNND2
CTNS
CTRC
CTSA
CTSC
CTSD
CTSF
CTSH
CTSK
CUBN
CUL3
CUL4B
CUL7
CXCR4
CYB5A
CYB5R3
CYBA
CYBB
CYC1
CYCS
CYFIP1
CYLD
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP21A2
CYP24A1
CYP26B1
CYP26C1
CYP27A1
CYP27B1
CYP2R1
CYP2U1
CYP4F22
CYP4V2
CYP7A1
CYP7B1
D2HGDH
DACT1
DAG1
DAO
DARS
DARS2
DAZ1
DAZ2
DAZ3
DAZ4
DBH
DBT
DCAF17
DCC
DCHS1
DCLRE1C
DCN
DCTN1
DCTN4
DCX
DCXR
DDB2
DDC
DDHD1
DDHD2
DDIT3
DDOST
DDR2
DDX11
DDX3X
DDX3Y
DDX59
DEPDC5
DES
DFNA5
DFNB31
DFNB59
DGAT1
DGKE
DGUOK
DHCR24
DHCR7
DHDDS
DHFR
DHH
DHODH
DHTKD1
DIABLO
DIAPH1
DIAPH3
DICER1
DIRC1
DIRC2
DIRC3
DIS3L2
DISP1
DKC1
DKK1
DLAT
DLD
DLG3
DLK1
DLL1
DLL3
DLX3
DLX5
DMD
DMGDH
DMP1
DMPK
DMRT1
DMRT2
DNA2
DNAAF1
DNAAF2
DNAAF3
DNAH11
DNAH5
DNAI1
DNAI2
DNAJB2
DNAJB6
DNAJC19
DNAJC30
DNAJC5
DNAJC6
DNAL1
DNASE1L3
DNM1L
DNM2
DNMT1
DNMT3B
DOCK6
DOCK8
DOK7
DOLK
DPAGT1
DPCR1
DPM1
DPM2
DPM3
DPP6
DPP9
DPY19L2
DPYD
DPYS
DPYSL3
DRC1
DRD2
DRD5
DSC2
DSC3
DSE
DSG1
DSG2
DSG4
DSP
DSPP
DST
DTNA
DTNBP1
DUOX2
DUOXA2
DUSP6
DUX4
DYM
DYNC1H1
DYNC2H1
DYRK1A
DYSF
DYX1C1
EARS2
EBP
ECE1
ECEL1
ECM1
EDA
EDA2R
EDAR
EDARADD
EDN1
EDN3
EDNRB
EEF2
EFEMP1
EFEMP2
EFHC1
EFNB1
EFTUD2
EGF
EGFR
EGLN1
EGR2
EHHADH
EHMT1
EIF2AK3
EIF2AK4
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF4A3
EIF4G1
EIF4H
ELAC2
ELANE
ELF4
ELMOD3
ELN
ELOVL4
EMD
EMG1
EMX2
ENAM
ENG
ENO3
ENPP1
EOGT
EOMES
EP300
EPAS1
EPB41L1
EPB42
EPCAM
EPG5
EPHA2
EPHB2
EPHX1
EPM2A
EPOR
EPS8L3
ERBB3
ERBB4
ERC1
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ERF
ERG
ERLIN2
ERMARD
ESCO2
ESPN
ESR1
ESRRB
ETFA
ETFB
ETFDH
ETHE1
ETV1
ETV4
ETV6
EVC
EVC2
EWSR1
EXOSC3
EXT1
EXT2
EYA1
EYA4
EYS
EZH2
F10
F11
F12
F13A1
F13B
F2
F5
F7
F8
F9
FA2H
FADD
FAH
FAM111A
FAM111B
FAM126A
FAM134B
FAM13A
FAM161A
FAM20A
FAM20C
FAM58A
FAM83H
FAN1
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FARS2
FAS
FASLG
FASTKD2
FAT4
FBLN1
FBLN5
FBN1
FBN2
FBP1
FBXL4
FBXO7
FBXW4
FCN3
FECH
FERMT1
FERMT3
FGA
FGB
FGD1
FGD4
FGF10
FGF14
FGF16
FGF17
FGF23
FGF3
FGF8
FGF9
FGFR1
FGFR2
FGFR3
FGG
FH
FHIT
FHL1
FHL2
FIG4
FIP1L1
FKBP10
FKBP14
FKBP6
FKRP
FKTN
FLCN
FLI1
FLII
FLNA
FLNB
FLNC
FLRT3
FLT3
FLT4
FLVCR1
FLVCR2
FMR1
FN1
FNBP4
FOLR1
FOS
FOXC1
FOXC2
FOXD3
FOXE1
FOXE3
FOXF1
FOXG1
FOXH1
FOXI1
FOXL2
FOXN1
FOXO1
FOXP1
FOXP2
FOXP3
FOXRED1
FRAS1
FREM1
FREM2
FRG1
FSCN2
FSHB
FSHR
FTCD
FTH1
FTL
FTO
FTSJ1
FUCA1
FUS
FUZ
FXN
FXYD2
FYCO1
FZD4
FZD6
G6PC
G6PC3
GAA
GABRA1
GABRA3
GABRB3
GABRD
GABRG2
GAD1
GALC
GALE
GALK1
GALNS
GALNT3
GALT
GAMT
GAN
GARS
GAS1
GATA1
GATA2
GATA3
GATA4
GATA5
GATA6
GATAD1
GATAD2B
GATM
GBA
GBA2
GBE1
GCDH
GCH1
GCK
GCLC
GCM2
GCSH
GDAP1
GDF1
GDF2
GDF3
GDF5
GDF6
GDI1
GDNF
GFAP
GFER
GFI1
GFI1B
GFM1
GFPT1
GGCX
GGT1
GH1
GHR
GHRHR
GHSR
GIF
GIGYF2
GIPC3
GJA1
GJA3
GJA5
GJA8
GJB1
GJB2
GJB3
GJB4
GJB6
GJC2
GK
GLA
GLB1
GLDC
GLE1
GLI2
GLI3
GLIS2
GLIS3
GLMN
GLRA1
GLRB
GLRX5
GLUD1
GLUL
GLYCTK
GM2A
GMPPA
GMPPB
GNA11
GNAI3
GNAL
GNAO1
GNAQ
GNAS
GNAT1
GNAT2
GNB4
GNE
GNMT
GNPAT
GNPTAB
GNPTG
GNRH1
GNRHR
GNS
GOLGA5
GORAB
GOSR2
GP1BA
GP1BB
GP6
GP9
GPC1
GPC3
GPC4
GPC6
GPD1
GPD1L
GPHN
GPI
GPIHBP1
GPR143
GPR179
GPR35
GPR56
GPR98
GPSM2
GREM1
GRHL2
GRHL3
GRHPR
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIP1
GRK1
GRM1
GRM6
GRN
GRXCR1
GSN
GSR
GSS
GTF2H5
GTF2I
GTF2IRD1
GUCA1A
GUCA1B
GUCY2C
GUCY2D
GUSB
GYG1
GYS1
GYS2
H6PD
HACE1
HADH
HADHA
HADHB
HAL
HAMP
HARS
HARS2
HAX1
HBA2
HBB
HBD
HBG1
HBG2
HCCS
HCFC1
HCN4
HCRT
HDAC4
HDAC6
HDAC8
HDAC9
HEATR2
HEPACAM
HERC2
HES7
HESX1
HEXA
HEXB
HFE
HFE2
HGD
HGF
HGSNAT
HIBCH
HIC1
HINT1
HIRA
HK1
HLA-A
HLA-B
HLA-DPB1
HLA-DQB1
HLA-DRA
HLA-DRB1
HLCS
HLF
HMBS
HMGA2
HMGCL
HMGCS2
HMX1
HNF1A
HNF1B
HNF4A
HNRNPA1
HNRNPA2B1
HNRNPH1
HOGA1
HOXA1
HOXA11
HOXA13
HOXA2
HOXB1
HOXB13
HOXC13
HOXD10
HOXD13
HPD
HPGD
HPRT1
HPS1
HPS3
HPS4
HPS5
HPS6
HPSE2
HR
HRAS
HRG
HS6ST1
HSD11B1
HSD11B2
HSD17B10
HSD17B3
HSD17B4
HSD3B2
HSD3B7
HSF4
HSPB1
HSPB3
HSPB8
HSPBAP1
HSPD1
HSPG2
HTRA1
HTRA2
HTT
HUWE1
HYAL1
HYDIN
HYLS1
IBA57
ICAM1
ICK
ICOS
IDH1
IDH2
IDH3B
IDS
IDUA
IER3IP1
IFITM5
IFNG
IFNGR1
IFNGR2
IFRD1
IFT122
IFT140
IFT172
IFT43
IFT80
IFT88
IGBP1
IGF1
IGF1R
IGF2
IGFALS
IGFBP7
IGH
IGHG1
IGHG2
IGHM
IGHMBP2
IGKC
IGLL1
IGSF1
IHH
IKBKAP
IKBKG
IKZF1
IL10
IL10RA
IL10RB
IL11RA
IL12A
IL12B
IL12RB1
IL12RB2
IL17F
IL17RA
IL17RD
IL1RAPL1
IL1RN
IL21R
IL23R
IL2RA
IL2RB
IL2RG
IL31RA
IL36RN
IL6
IL7R
ILDR1
IMPAD1
IMPDH1
IMPG1
IMPG2
INF2
ING1
ING3
INHBA
INPP5E
INPPL1
INS
INSR
INVS
IQCB1
IQSEC2
IRAK1
IRAK4
IRF5
IRF6
IRF8
IRX5
ISCU
ISG15
ISPD
ITCH
ITGA2
ITGA2B
ITGA3
ITGA6
ITGA7
ITGA8
ITGA9
ITGB2
ITGB3
ITGB4
ITK
ITM2B
ITPR1
IVD
IYD
JAG1
JAK2
JAK3
JAM3
JPH3
JRK
JUP
KAL1
KANK1
KANSL1
KARS
KAT6A
KAT6B
KBTBD13
KCNA1
KCNA5
KCNAB2
KCNC3
KCND3
KCNE1
KCNE1L
KCNE2
KCNE3
KCNH2
KCNJ1
KCNJ10
KCNJ11
KCNJ13
KCNJ18
KCNJ2
KCNJ5
KCNJ8
KCNK3
KCNK9
KCNMA1
KCNQ1
KCNQ2
KCNQ3
KCNQ4
KCNT1
KCNV2
KCTD1
KCTD7
KDM5C
KDM6A
KDR
KERA
KHDC3L
KHK
KIAA0196
KIAA0319L
KIAA1033
KIAA1279
KIAA1377
KIAA1549
KIAA2022
KIF11
KIF1A
KIF1B
KIF1C
KIF21A
KIF22
KIF23
KIF5A
KIF7
KIRREL3
KISS1
KISS1R
KIT
KITLG
KL
KLF1
KLF11
KLHL3
KLHL40
KLHL41
KLHL7
KLK4
KLKB1
KLLN
KMT2A
KMT2D
KNG1
KRAS
KRIT1
KRT1
KRT10
KRT12
KRT13
KRT14
KRT16
KRT17
KRT2
KRT3
KRT4
KRT5
KRT6A
KRT6B
KRT6C
KRT71
KRT74
KRT81
KRT83
KRT85
KRT86
KRT9
KYNU
L1CAM
L2HGDH
LAMA2
LAMA3
LAMA4
LAMB1
LAMB2
LAMB3
LAMC2
LAMC3
LAMP2
LAMTOR2
LARGE
LARP7
LARS
LARS2
LAT2
LBR
LCA5
LCAT
LCK
LCT
LDB3
LDHA
LDHB
LDLR
LDLRAP1
LEFTY2
LEMD3
LEP
LEPR
LEPRE1
LEPREL1
LETM1
LFNG
LGI1
LHB
LHCGR
LHFPL5
LHX1
LHX3
LHX4
LIFR
LIG4
LIM2
LIMK1
LIN28B
LINS
LIPA
LIPC
LIPH
LIPI
LIPN
LIPT1
LITAF
LMAN1
LMBR1
LMBRD1
LMF1
LMNA
LMNB1
LMNB2
LMX1B
LOR
LOXHD1
LPAR6
LPIN1
LPIN2
LPL
LRAT
LRBA
LRIG2
LRIT3
LRP2
LRP4
LRP5
LRP6
LRPAP1
LRPPRC
LRRC6
LRRC8A
LRRFIP2
LRRK2
LRSAM1
LRTOMT
LTBP2
LTBP3
LTBP4
LTC4S
LYRM7
LYST
LYZ
LZTFL1
LZTR1
MAF
MAFB
MAGEL2
MAGT1
MAK
MALT1
MAMLD1
MAN1B1
MAN2B1
MANBA
MANF
MAOA
MAP2K1
MAP2K2
MAP3K1
MAPK1
MAPK10
MAPT
MARS
MARS2
MARVELD2
MASP1
MASP2
MASTL
MAT1A
MATN3
MATR3
MAX
MBD5
MBTPS2
MC1R
MC2R
MC3R
MC4R
MCCC1
MCCC2
MCEE
MCFD2
MCM4
MCOLN1
MCPH1
MCTP2
MDM2
MECOM
MECP2
MED12
MED13L
MED23
MED25
MEF2C
MEFV
MEG3
MEGF10
MEGF8
MEN1
MEOX1
MERTK
MESP2
MET
MFN2
MFRP
MFSD8
MGAT2
MGME1
MGMT
MGP
MIB1
MID1
MID2
MIF
MIP
MIPOL1
MIR17HG
MITF
MKKS
MKRN3
MKS1
MLC1
MLH1
MLH3
MLLT10
MLPH
MLX
MLXIPL
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMEL1
MMP1
MMP13
MMP14
MMP2
MMP20
MMP9
MN1
MNX1
MOCOS
MOCS1
MOCS2
MOG
MOGS
MPDU1
MPDZ
MPI
MPL
MPLKIP
MPO
MPST
MPV17
MPZ
MRAP
MRE11A
MRPL3
MRPL44
MRPS16
MRPS22
MS4A1
MSH2
MSH6
MSMB
MSR1
MSRB3
MST1
MSTN
MSX1
MSX2
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MTAP
MTFMT
MTHFD1
MTHFR
MTM1
MTMR14
MTMR2
MTO1
MTPAP
MTR
MTRR
MTTP
MUC1
MUC5B
MUSK
MUT
MUTYH
MVK
MYB
MYBPC1
MYBPC3
MYC
MYCN
MYD88
MYF6
MYH11
MYH14
MYH2
MYH3
MYH6
MYH7
MYH7B
MYH8
MYH9
MYL2
MYLK
MYO15A
MYO1A
MYO1E
MYO3A
MYO5A
MYO5B
MYO6
MYO7A
MYOC
MYOT
MYPN
NAA10
NAB2
NABP1
NAGA
NAGLU
NAGS
NAIP
NALCN
NANOS1
NBAS
NBEAL2
NBN
NCF1
NCF2
NCF4
NCOA4
NDE1
NDN
NDP
NDRG1
NDUFA1
NDUFA10
NDUFA11
NDUFA13
NDUFA2
NDUFA4
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEFH
NEFL
NEK1
NEK2
NEK8
NELFA
NEU1
NEUROD1
NEUROG3
NEXN
NF1
NF2
NFIX
NFKB2
NFKBIA
NFU1
NGF
NHEJ1
NHLRC1
NHP2
NHS
NIN
NIPA1
NIPAL4
NIPBL
NKX2-1
NKX2-5
NKX2-6
NKX3-2
NLRP1
NLRP12
NLRP3
NLRP7
NME8
NMNAT1
NNT
NOD2
NODAL
NOG
NOL3
NONO
NOP10
NOP56
NOS1AP
NOTCH2
NOTCH3
NPC1
NPC2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NPM1
NPPA
NPR2
NR0B1
NR1H4
NR2E3
NR3C1
NR3C2
NR4A2
NR4A3
NR5A1
NRAS
NRL
NRTN
NRXN1
NSD1
NSDHL
NSMF
NSUN2
NT5C2
NT5C3A
NT5E
NTNG1
NTRK1
NTRK2
NTRK3
NUBPL
NUMA1
NUP155
NUP62
NYX
OAT
OBFC1
OBSL1
OCA2
OCLN
OCRL
OFD1
OGDH
OPA1
OPA3
OPHN1
OPLAH
OPN1LW
OPN1MW
OPN1SW
OPTN
ORAI1
ORC1
ORC4
ORC6
OSMR
OSTM1
OTC
OTOA
OTOF
OTOG
OTOGL
OTX2
OXCT1
P2RX2
P2RY11
P2RY12
PABPN1
PACRG
PACS1
PAFAH1B1
PAH
PAK3
PALB2
PANK2
PAPSS2
PARK2
PARK7
PAX1
PAX2
PAX3
PAX4
PAX5
PAX6
PAX7
PAX8
PAX9
PBX1
PC
PCBD1
PCCA
PCCB
PCDH15
PCDH19
PCK1
PCK2
PCM1
PCNT
PCSK1
PCSK9
PCYT1A
PDCD10
PDE11A
PDE4D
PDE6A
PDE6B
PDE6C
PDE6D
PDE6G
PDE6H
PDE8B
PDGFB
PDGFRA
PDGFRB
PDHA1
PDHB
PDHX
PDK3
PDP1
PDSS1
PDSS2
PDX1
PDYN
PDZD7
PEPD
PER2
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PFN1
PGAM2
PGAP2
PGAP3
PGK1
PGM1
PHC1
PHEX
PHF21A
PHF6
PHF8
PHGDH
PHKA1
PHKA2
PHKB
PHKG1
PHKG2
PHOX2A
PHOX2B
PHYH
PICALM
PIEZO1
PIEZO2
PIGA
PIGL
PIGM
PIGN
PIGO
PIGT
PIGV
PIK3CA
PIK3R1
PIK3R2
PIK3R5
PIKFYVE
PINK1
PIP4K2A
PIP5K1C
PITPNM3
PITX1
PITX2
PITX3
PKD1
PKHD1
PKLR
PKP1
PKP2
PLA2G5
PLA2G6
PLAGL1
PLAU
PLCB1
PLCB4
PLCD1
PLCE1
PLCG2
PLEC
PLEKHG4
PLEKHG5
PLEKHM1
PLG
PLIN1
PLN
PLOD1
PLOD2
PLOD3
PLP1
PLS3
PLXND1
PML
PMM2
PMP22
PMS1
PMS2
PNKD
PNKP
PNP
PNPLA1
PNPLA2
PNPLA6
PNPO
PNPT1
POC1A
POFUT1
POGLUT1
POLD1
POLE
POLG
POLG2
POLH
POLR1C
POLR1D
POLR3A
POLR3B
POMC
POMGNT1
POMGNT2
POMK
POMP
POMT1
POMT2
PON1
PON2
PON3
POP1
POR
PORCN
POT1
POU1F1
POU2AF1
POU3F4
POU4F3
POU6F2
PPARG
PPARGC1A
PPIB
PPM1B
PPM1K
PPOX
PPP2R2B
PPT1
PQBP1
PRCC
PRCD
PRDM16
PRDM5
PRDM8
PREPL
PRF1
PRG4
PRICKLE1
PRKAR1A
PRKCD
PRKCG
PRKCSH
PRKDC
PRKG1
PRKRA
PRNP
PROC
PRODH
PROK2
PROKR2
PROM1
PROP1
PROS1
PROZ
PRPF3
PRPF31
PRPF6
PRPF8
PRPH
PRPH2
PRPS1
PRRT2
PRRX1
PRSS1
PRSS12
PRSS2
PRSS56
PRTN3
PRX
PSAP
PSAT1
PSEN1
PSEN2
PSMB8
PSMC3IP
PSPH
PSTPIP1
PTCH1
PTCH2
PTDSS1
PTEN
PTF1A
PTH
PTH1R
PTHLH
PTPLA
PTPN11
PTPN2
PTPN22
PTPRC
PTPRO
PTPRQ
PTRF
PTS
PUS1
PVRL1
PVRL4
PXDN
PYCR1
PYGL
PYGM
QDPR
RAB18
RAB23
RAB27A
RAB28
RAB33B
RAB39B
RAB3GAP1
RAB3GAP2
RAB40AL
RAB7A
RAC2
RAD21
RAD50
RAD51
RAD51C
RAD51D
RAF1
RAG1
RAG2
RAI1
RANBP2
RAPSN
RARA
RARB
RARS2
RASA1
RAX
RAX2
RB1
RBBP8
RBCK1
RBM10
RBM20
RBM28
RBM8A
RBMY1A1
RBP3
RBP4
RBPJ
RD3
RDH12
RDH5
RDX
RECQL4
REEP1
RELA
RELN
REN
RET
RFC2
RFT1
RFX5
RFX6
RFXANK
RFXAP
RGR
RGS9
RGS9BP
RHAG
RHBDF2
RHCE
RHD
RHO
RHOH
RIMS1
RIN2
RIPK4
RIT1
RLBP1
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASEL
RNASET2
RNF135
RNF139
RNF213
RNF216
ROBO2
ROBO3
ROGDI
ROM1
ROR2
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RPGRIP1L
RPL11
RPL15
RPL21
RPL26
RPL35A
RPL5
RPS10
RPS14
RPS17
RPS19
RPS24
RPS26
RPS6KA3
RPS7
RPSA
RRM2B
RS1
RSPH1
RSPH4A
RSPH9
RSPO1
RSPO4
RTEL1
RTL1
RTN2
RTTN
RUNX1
RUNX1T1
RUNX2
RYR1
RYR2
SAA1
SACS
SAG
SALL1
SALL4
SAMD9
SAMHD1
SAR1B
SARDH
SARS2
SAT1
SATB2
SBDS
SBF1
SBF2
SC5D
SCARB2
SCARF2
SCN10A
SCN11A
SCN1A
SCN1B
SCN2A
SCN2B
SCN3B
SCN4A
SCN4B
SCN5A
SCN8A
SCN9A
SCNN1A
SCNN1B
SCNN1G
SCO1
SCO2
SCP2
SDCCAG8
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SEC23A
SEC23B
SEC63
SECISBP2
SEMA3A
SEMA3E
SEMA4A
SEMA5A
SEPN1
SEPSECS
SEPT14
SEPT9
SERAC1
SERPINA1
SERPINA3
SERPINA6
SERPINA7
SERPINB6
SERPINB7
SERPINC1
SERPINE1
SERPINF1
SERPINF2
SERPING1
SERPINH1
SERPINI1
SETBP1
SETX
SF3B4
SFPQ
SFTPA1
SFTPA2
SFTPB
SFTPC
SFXN4
SGCA
SGCB
SGCD
SGCE
SGCG
SGSH
SH2B1
SH2B3
SH2D1A
SH3BP2
SH3PXD2B
SH3TC2
SHANK3
SHFM1
SHH
SHOC2
SHOX
SHROOM4
SI
SIGMAR1
SIL1
SIM1
SIX1
SIX3
SIX5
SIX6
SKI
SKIV2L
SLC11A1
SLC11A2
SLC12A1
SLC12A3
SLC12A6
SLC16A1
SLC16A12
SLC16A2
SLC17A5
SLC17A8
SLC18A2
SLC19A2
SLC19A3
SLC1A3
SLC20A2
SLC22A12
SLC22A5
SLC24A1
SLC24A4
SLC24A5
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC25A3
SLC25A38
SLC25A4
SLC26A2
SLC26A3
SLC26A4
SLC26A5
SLC27A4
SLC29A3
SLC2A1
SLC2A10
SLC2A2
SLC2A9
SLC30A10
SLC33A1
SLC34A1
SLC34A2
SLC34A3
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC35D1
SLC36A2
SLC37A4
SLC39A13
SLC39A4
SLC3A1
SLC40A1
SLC45A2
SLC46A1
SLC4A1
SLC4A11
SLC4A4
SLC52A1
SLC52A2
SLC52A3
SLC5A1
SLC5A2
SLC5A5
SLC5A7
SLC6A18
SLC6A19
SLC6A20
SLC6A3
SLC6A5
SLC6A8
SLC7A7
SLC7A9
SLC9A3R1
SLC9A6
SLCO1B1
SLCO1B3
SLCO2A1
SLCO5A1
SLITRK6
SLURP1
SLX4
SMAD3
SMAD4
SMAD9
SMARCA2
SMARCA4
SMARCA5
SMARCAD1
SMARCAL1
SMARCB1
SMARCE1
SMC1A
SMC3
SMCHD1
SMN2
SMOC1
SMOC2
SMPD1
SMPX
SMS
SNAI2
SNAP29
SNCA
SNRNP200
SNRPE
SNRPN
SNTA1
SNX10
SNX3
SOD1
SOHLH1
SORL1
SOS1
SOST
SOX10
SOX17
SOX18
SOX2
SOX3
SOX5
SOX9
SP110
SP7
SPAG1
SPAST
SPATA16
SPATA7
SPECC1L
SPG11
SPG20
SPG21
SPG7
SPIB
SPINK1
SPINK5
SPINT2
SPP1
SPR
SPRED1
SPRY4
SPTA1
SPTAN1
SPTB
SPTBN2
SPTLC1
SPTLC2
SQSTM1
SRCAP
SRD5A2
SRD5A3
SRGAP3
SRP72
SRPX2
SRY
SS18
SSR4
SSX1
SSX2
ST14
ST3GAL3
ST3GAL5
STAC3
STAMBP
STAR
STAT1
STAT3
STAT4
STAT5B
STAT6
STEAP3
STIL
STIM1
STK11
STK4
STOX1
STRA6
STRC
STS
STT3A
STT3B
STUB1
STX11
STX16
STX1A
STXBP1
STXBP2
SUCLA2
SUCLG1
SUFU
SUGCT
SULF1
SUMF1
SUOX
SURF1
SUZ12
SYCP3
SYN1
SYNE1
SYNE2
SYNE4
SYNGAP1
SYNJ1
SYP
SYT14
SZT2
T
TAC3
TACC1
TACC3
TACO1
TACR3
TACSTD2
TAF1
TAF15
TAL1
TALDO1
TAP1
TAP2
TAPBP
TARDBP
TAT
TAZ
TBC1D20
TBC1D24
TBC1D7
TBCE
TBK1
TBL2
TBP
TBX1
TBX15
TBX19
TBX2
TBX20
TBX22
TBX3
TBX4
TBX5
TBX6
TBXA2R
TBXAS1
TCAP
TCF12
TCF3
TCF4
TCIRG1
TCL1A
TCN2
TCOF1
TCTN1
TCTN2
TCTN3
TDGF1
TDP1
TEAD1
TECPR2
TECR
TECTA
TEK
TENM3
TERT
TET2
TF
TFAP2A
TFAP2B
TFB1M
TFE3
TFEB
TFG
TFR2
TG
TGFA
TGFB1
TGFB2
TGFB3
TGFBI
TGFBR1
TGFBR2
TGFBR3
TGIF1
TGM1
TGM5
TGM6
TH
THAP1
THBD
THOC6
THPO
THRA
THRB
TIA1
TICAM1
TIMM8A
TIMP3
TINF2
TJP2
TK2
TLL1
TLR3
TLR4
TLX1
TLX3
TMC1
TMC6
TMC8
TMCO1
TMEM114
TMEM126A
TMEM127
TMEM138
TMEM165
TMEM185A
TMEM216
TMEM231
TMEM237
TMEM38B
TMEM43
TMEM5
TMEM67
TMEM70
TMIE
TMPO
TMPRSS15
TMPRSS3
TMPRSS4
TMPRSS6
TNC
TNFRSF10B
TNFRSF11A
TNFRSF11B
TNFRSF13B
TNFRSF13C
TNFRSF1A
TNFSF11
TNFSF12
TNFSF15
TNFSF4
TNK2
TNNC1
TNNI2
TNNI3
TNNT1
TNNT2
TNNT3
TNPO3
TNXB
TOP2A
TOPORS
TOR1A
TP53
TP63
TPI1
TPK1
TPM1
TPM2
TPM3
TPM4
TPMT
TPO
TPP1
TPR
TPRN
TRAF3
TRAF3IP2
TRAF6
TRAPPC11
TRAPPC2
TRAPPC9
TRB
TRDN
TREH
TREM2
TREX1
TRH
TRHR
TRIM24
TRIM27
TRIM32
TRIM33
TRIM37
TRIOBP
TRIP11
TRMT10A
TRMU
TRPA1
TRPC6
TRPM1
TRPM4
TRPM6
TRPM7
TRPS1
TRPV3
TRPV4
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSHR
TSHZ1
TSPAN12
TSPAN7
TSPEAR
TSPY1
TSPYL1
TTBK2
TTC19
TTC21B
TTC37
TTC7A
TTC8
TTI2
TTN
TTPA
TTR
TUBA1A
TUBA8
TUBB1
TUBB2B
TUBB3
TUBB4A
TUBGCP6
TUFM
TULP1
TUSC3
TWIST1
TWIST2
TXNRD2
TYK2
TYMP
TYR
TYROBP
TYRP1
UBA1
UBAC2
UBE2A
UBE3A
UBE3B
UBIAD1
UBQLN2
UBR1
UCHL1
UCP2
UFD1L
UGT1A1
UMOD
UMPS
UNC119
UNC13D
UNC93B1
UNG
UPB1
UPF3B
UPK3A
UQCC2
UQCRB
UQCRC2
UQCRQ
UROC1
UROD
UROS
USB1
USH1C
USH1G
USH2A
USP9Y
UVSSA
VAMP1
VANGL1
VANGL2
VAPB
VCAN
VCL
VCP
VDR
VEGFC
VHL
VIM
VIPAS39
VKORC1
VLDLR
VMA21
VPS13A
VPS13B
VPS33B
VPS35
VPS37A
VPS45
VRK1
VSX1
VSX2
VWF
WAS
WBSCR16
WBSCR22
WBSCR27
WDPCP
WDR11
WDR19
WDR34
WDR35
WDR45
WDR60
WDR62
WDR72
WDR81
WFS1
WHSC1
WIPF1
WISP3
WNK1
WNK4
WNT1
WNT10A
WNT10B
WNT3
WNT3A
WNT4
WNT5A
WNT7A
WRAP53
WRN
WT1
WWOX
XDH
XIAP
XK
XPA
XPC
XPNPEP2
XPNPEP3
XRCC2
XYLT1
YAP1
YARS
YARS2
YWHAE
ZAP70
ZBTB16
ZBTB18
ZBTB24
ZC3H14
ZC4H2
ZDHHC9
ZEB1
ZEB2
ZFP57
ZFP90
ZFPM2
ZFYVE26
ZIC1
ZIC2
ZIC3
ZIC4
ZMPSTE24
ZMYND10
ZNF141
ZNF335
ZNF365
ZNF408
ZNF41
ZNF423
ZNF469
ZNF513
ZNF592
ZNF674
ZNF711
ZNF750
ZNF81