| A |
Back to top |
|
ABCD syndrome
|
|
1
|
0
|
|
Abdominal obesity-metabolic syndrome 1; AOMS1
|
Metabolic syndrome X
|
2
|
0
|
|
Abdominal obesity-metabolic syndrome 3; AOMS3
|
|
1
|
0
|
|
Abnormal pregnancies
|
|
1
|
0
|
|
Absence epilepsy
|
early onset absence epilepsy
|
2
|
0
|
|
Acatalasemia
|
acatalasia |
catalase deficiency |
Takahara disease
|
1
|
0
|
|
Acetyl-CoA acetyltransferase-2 deficiency; ACAT2D
|
|
1
|
0
|
|
Achondroplasia
|
|
1
|
0
|
|
Achromatopsia 2; ACHM2
|
Achromatopsia
|
1
|
0
|
|
Achromatopsia 3; ACHM3
|
Achromatopsia
|
1
|
0
|
|
Acne inversa, familial, 3; ACNINV3
|
Hidradenitis suppurativa
|
1
|
0
|
|
Acne vulgaris
|
adult acne
|
0
|
1
|
|
Acrodermatitis enteropathica
|
|
1
|
0
|
|
Acrodysostosis 1 with or without hormone resistance; ACRDYS1
|
Acrodysostosis |
Acrodysostosis with multiple hormone resistance
|
1
|
0
|
|
Acromegaly
|
|
1
|
0
|
|
Acromesomelia and painful neuropathy
|
acromesomelic dysplasia |
neuropathy
|
1
|
0
|
|
Activated PI3K delta syndrome
|
APDS/PASLI |
Immunodeficiency 14 |
p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency
|
1
|
3
|
|
Acute biphenotypic leukemia
|
|
1
|
0
|
|
Acute encephalopathy with biphasic seizures and late reduced diffusion
|
|
1
|
0
|
|
Acute lymphocytic leukemia (ALL)
|
Acute lymphoblastic leukemia
|
3
|
2
|
|
Acute myeloblastic leukemia with maturation
|
|
2
|
0
|
|
Acute myeloblastic leukemia without maturation
|
|
1
|
0
|
|
Acute myeloid leukemia
|
Acute myelogenous leukemia
|
6
|
5
|
|
Acute myeloid leukemia with abnormal bone marrow eosinophils
|
|
2
|
0
|
|
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
|
|
1
|
0
|
|
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
|
|
2
|
0
|
|
Acute myelomonocytic leukemia
|
|
1
|
0
|
|
Acute pancreatitis
|
|
0
|
1
|
|
Acute promyelocytic leukemia; APL
|
|
1
|
0
|
|
Addison disease
|
Hypoadrenocorticism, familial
|
1
|
0
|
|
Adolescent idiopathic scoliosis
|
|
1
|
0
|
|
Adrenal hypoplasia, congenital; AHC
|
Addison's disease |
Adrenal hypoplasia, cytomegalic type |
Cytomegalic congenital adrenal hypoplasia |
hypoadrenalism |
primary/chronic adrenal insufficiency
|
1
|
0
|
|
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
|
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency |
Congenital adrenal insufficiency
|
1
|
0
|
|
Adrenocortical insufficiency
|
|
1
|
0
|
|
Adult T-cell leukemia
|
Adult T-cell leukemia/lymphoma |
ATLL
|
0
|
1
|
|
Advanced sleep-phase syndrome, familial, 2; FASPS2
|
Advanced sleep phase syndrome |
Familial advanced sleep-phase syndrome
|
1
|
0
|
|
Agammaglobulinemia, autosomal recessive
|
agammaglobulinemia 7 |
agammaglobulinemia, non-Bruton type |
AGM7
|
1
|
0
|
|
Agammaglobulinemia 6, Autosomal recessive; AGM6
|
Agammaglobulinemia |
Autosomal agammaglobulinemia
|
1
|
0
|
|
Agammaglobulinemia, X-linked
|
Bruton-type agammaglobulinemia
|
1
|
0
|
|
Alagille syndrome 2; ALGS2
|
Alagille syndrome |
Alagille syndrome due to a NOTCH2 point mutation
|
1
|
0
|
|
Aland Island eye disease; AIED
|
|
1
|
0
|
|
Alcohol dependence
|
|
6
|
0
|
|
Alcoholic liver disease
|
alcoholic hepatosteatosis
|
1
|
0
|
|
Alcohol sensitivity
|
acetaldehyde dehydrogenase deficiency |
alcohol flush reaction
|
1
|
0
|
|
Aldosterone-producing adenoma
|
|
1
|
0
|
|
Aleukemic mast cell leukemia
|
|
1
|
0
|
|
ALK-positive anaplastic large cell lymphoma
|
Anaplastic large cell lymphoma
|
1
|
0
|
|
ALK-positive large B-cell lymphoma
|
|
1
|
0
|
|
Allergic conjunctivitis
|
|
0
|
8
|
|
Allergic rhinitis
|
atopic rhinitis |
hay fever |
Non-seasonal allergic rhinitis |
Perenial allergic rhinitis |
pollenosis |
seasonal allergic rhinitis
|
0
|
13
|
|
Allergic urticaria
|
hives
|
0
|
10
|
|
Allograft rejection
|
|
1
|
4
|
|
Alopecia areata
|
circumscribed alopecia
|
0
|
3
|
|
Alpha-1 antitrypsin deficiency (A1ATD)
|
|
1
|
0
|
|
Alpha-methylacetoacetic aciduria
|
Beta-ketothiolase deficiency
|
1
|
0
|
|
Alternating hemiplegia of childhood 1; AHC1
|
Alternating hemiplegia of childhood
|
1
|
0
|
|
Alzheimer disease
|
Alzheimer's disease
|
8
|
0
|
|
Alzheimer disease 3
|
Alzheimer's disease |
Early-onset autosomal dominant Alzheimer disease
|
1
|
0
|
|
Alzheimer disease 4
|
Alzheimer's disease |
Early-onset autosomal dominant Alzheimer disease
|
1
|
0
|
|
Amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1
|
Amelogenesis imperfecta |
Hypomaturation amelogenesis imperfecta
|
1
|
0
|
|
Amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2
|
Amelogenesis imperfecta |
Hypomaturation amelogenesis imperfecta
|
1
|
0
|
|
Amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5
|
Amelogenesis imperfecta |
Hypomaturation amelogenesis imperfecta
|
1
|
0
|
|
Amyotrophic lateral sclerosis
|
|
3
|
0
|
|
Amyotrophic lateral sclerosis 19; ALS19
|
Amyotrophic lateral sclerosis
|
1
|
0
|
|
Amyotrophic lateral sclerosis 16, juvenile; ALS16
|
Juvenile amyotrophic lateral sclerosis
|
1
|
0
|
|
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
|
|
2
|
0
|
|
Amyotrophic lateral sclerosis with frontotemporal dementia
|
|
1
|
0
|
|
Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia; ALS22
|
Amyotrophic lateral sclerosis
|
1
|
0
|
|
Anaphylactic shock
|
hypersensitivity reaction disease
|
0
|
1
|
|
Anaplastic large cell lymphoma
|
|
0
|
1
|
|
Andersen-Tawil syndrome
|
Andersen cardiodysrhythmic periodic paralysis |
Andersen's syndrome |
Andersen syndrome |
Cardiodysrhythmic potassium-sensitive periodic paralysis
|
1
|
0
|
|
Androgen insensitivity syndrome; AIS
|
Complete androgen insensitivity syndrome
|
1
|
0
|
|
Angelman syndrome
|
|
2
|
0
|
|
Angina pectoris
|
|
1
|
0
|
|
Angioedema, hereditary, type III; HAE3
|
Hereditary angioedema |
Hereditary angioedema type 3
|
1
|
0
|
|
Angioedema induced by ACE inhibitors, susceptibility to; AEACEI
|
Renin-angiotensin-aldosterone system-blocker-induced angioedema
|
1
|
0
|
|
Ankylosing spondylitis
|
Bekhterev syndrome |
Marie-Strumpell disease
|
0
|
14
|
|
Anosmia, isolated congenital; ANIC
|
Congenital anosmia
|
1
|
0
|
|
Antiphospholipid syndrome
|
|
1
|
0
|
|
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
|
|
1
|
0
|
|
Anxiety
|
|
3
|
0
|
|
Aortic aneurysm, familial abdominal, 1; AAA1
|
Familial abdominal aortic aneurysm |
Familial thoracic aortic aneurysm and aortic dissection
|
1
|
0
|
|
Aortic aneurysm, familial thoracic 7; AAT7
|
Familial thoracic aortic aneurysm and aortic dissection |
thoracic aortic aneurysm
|
1
|
0
|
|
Aortic aneurysm, familial thoracic 8; AAT8
|
Familial thoracic aortic aneurysm and aortic dissection |
thoracic aortic aneurysm
|
1
|
0
|
|
Apert syndrome
|
|
1
|
0
|
|
Aromatase deficiency
|
|
1
|
0
|
|
Aromatase excess syndrome
|
|
1
|
0
|
|
Aromatic L-amino acid decarboxylase deficiency
|
|
1
|
0
|
|
Arrhythmogenic cardiomyopathy
|
|
0
|
1
|
|
Arterial hypertension
|
|
1
|
0
|
|
Arteriosclerosis
|
|
1
|
0
|
|
Arthrogryposis multiplex congenita
|
lethal congenital contracture syndrome-9
|
1
|
0
|
|
Aspergillosis
|
|
1
|
0
|
|
Aspirin exacerbated respiratory diseases
|
|
1
|
1
|
|
Asthma
|
|
7
|
78
|
|
Asthma-related traits, susceptibility to, 5
|
|
1
|
0
|
|
Asthma, susceptibility to
|
|
12
|
0
|
|
Asthma, susceptibility to, 1
|
|
1
|
0
|
|
Asthma, susceptibility to, 2
|
|
1
|
0
|
|
Ataxia-telangiectasia
|
|
1
|
0
|
|
Ataxia-telangiectasia variant
|
|
1
|
0
|
|
Atherosclerosis susceptibility
|
|
7
|
0
|
|
Athyreosis
|
|
1
|
0
|
|
Atopic dermatitis
|
|
2
|
17
|
|
Atrial Fibrillation
|
|
2
|
0
|
|
Atrial fibrillation, familial, 10; ATFB10
|
Familial atrial fibrillation
|
1
|
0
|
|
Atrial fibrillation, familial, 12; ATFB12
|
Familial atrial fibrillation
|
1
|
0
|
|
Atrial fibrillation, familial, 3; ATFB3
|
Familial atrial fibrillation
|
1
|
0
|
|
Atrial fibrillation, familial, 7; ATFB7
|
Familial atrial fibrillation
|
1
|
0
|
|
Atrial fibrillation, familial, 9; ATFB9
|
Familial atrial fibrillation
|
1
|
0
|
|
Atrial stand still
|
Atrial cardiomyopathy with heart block
|
1
|
0
|
|
Atypical chronic myeloid leukemia
|
|
1
|
0
|
|
Atypical Rett syndrome
|
|
1
|
0
|
|
Autism
|
Autism spectrum disorder
|
4
|
0
|
|
Autoimmune disease
|
hypersensitivity reaction disease
|
1
|
0
|
|
Autoimmune lymphoproliferative syndrome; ALPS
|
|
1
|
1
|
|
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A
|
Autoimmune lymphoproliferative syndrome
|
1
|
0
|
|
Autoimmune lymphoproliferative syndrome, type III; ALPS3
|
Autoimmune lymphoproliferative syndrome
|
1
|
0
|
|
Autoimmune lymphoproliferative syndrome, type V; ALPS5
|
Autoimmune lymphoproliferative syndrome |
CTLA4 haploinsuffiency with autoimmune infiltration; CHAI
|
1
|
0
|
|
Autoimmune lymphoproliferative syndrome with recurrent viral infections
|
Autoimmune lymphoproliferative syndrome |
Autoimmune lymphoproliferative syndrome, type IIB; ALPS2B |
Caspase 8 deficiency
|
1
|
0
|
|
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; APS1
|
Autoimmune polyendocrine syndrome type 1
|
1
|
0
|
|
Autoimmune thrombocytopenic purpura
|
idiopathic thrombocytopenic purpura |
Immune thrombocytopenia |
Immune thrombocytopenic purpura |
ITP |
primary immune thrombocytopenia |
primary thrombocytopenic purpura
|
0
|
5
|
|
Autoimmune thyroid disorders
|
|
1
|
0
|
|
Autoinflammation with infantile enterocolitis; AIFEC
|
|
1
|
0
|
|
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
|
|
1
|
0
|
|
Autosomal dominant hyperinsulinism due to SUR1 deficiency
|
Hyperinsulinemic hypoglycemia |
Hyperinsulinemic hypoglycemia, familial, 1; HHF1
|
1
|
0
|
|
Autosomal recessive centronuclear myopathy
|
Centronuclear myopathy
|
1
|
0
|
|
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
|
|
1
|
0
|
|
Autosomal recessive hyperinsulinism due to SUR1 deficiency
|
Hyperinsulinemic hypoglycemia |
Hyperinsulinemic hypoglycemia, familial, 1; HHF1
|
1
|
0
|
|
Autosomal recessive systemic lupus erythematosus
|
|
1
|
0
|
|
Axial spondyloarthritis
|
Axial SpA
|
0
|
1
|
|
Azoospermia
|
|
0
|
0
|
| |
| B |
Back to top |
|
Bare lymphocyte syndrome, type II
|
Immunodeficiency by defective expression of HLA class 2
|
1
|
0
|
|
Bartter syndrome, antenatal, type 1
|
Antenatal Bartter syndrome |
Bartter disease
|
1
|
0
|
|
Bartter syndrome, antenatal, type 2
|
Antenatal Bartter syndrome |
Bartter disease
|
1
|
0
|
|
Basal cell carcinoma
|
|
1
|
0
|
|
Basal ganglia calcification, idiopathic, 4; IBGC4
|
Basal ganglia calcification |
Bilateral striopallidodentate calcinosis
|
1
|
0
|
|
B-cell chronic lymphocytic leukemia
|
B-CLL |
lymphoplasmacytic leukemia |
small lymphocytic lymphoma
|
2
|
5
|
|
B-cell lymphoma
|
|
1
|
3
|
|
B-cell non-hodgkin lymphoma
|
|
1
|
1
|
|
Beare-Stevenson cutis gyrata syndrome
|
Cutis gyrata - acanthosis nigricans - craniosynostosis
|
1
|
0
|
|
Beckwith-Wiedemann syndrome
|
|
1
|
0
|
|
Behavioral variant of frontotemporal dementia
|
|
1
|
0
|
|
Behcet syndrome
|
Behçet disease |
Behcet's disease
|
3
|
0
|
|
Benign Adult Familial Myoclonic Epilepsy
|
|
1
|
0
|
|
Benign essential blepharospasm
|
Blepharospasm
|
1
|
0
|
|
Benign familial infantile epilepsy
|
Benign familial infantile convulsions |
Benign familial infantile seizures
|
2
|
0
|
|
Benign paroxysmal torticollis of infancy
|
|
1
|
0
|
|
Benign Samaritan congenital myopathy
|
|
1
|
0
|
|
Bent bone dysplasia syndrome
|
FGFR2-related bent bone dysplasia
|
1
|
0
|
|
Bilateral frontoparietal polymicrogyria
|
|
1
|
0
|
|
Bilateral renal dysplasia
|
|
1
|
0
|
|
Birk-Barel mental retardation dysmorphism syndrome
|
Birk-Barel syndrome |
Intellectual disability, Birk-Barel type
|
1
|
0
|
|
Bladder cancer
|
|
3
|
0
|
|
Blau syndrome; BLAUS
|
|
1
|
0
|
|
Bleeding disorder, platelet-type, 8; BDPLT8
|
P2Y12 defect
|
1
|
0
|
|
Bleeding disorder, platelet-type, 13, susceptibility to
|
Bleeding diathesis due to thromboxane synthesis deficiency
|
1
|
0
|
|
Body mass index quantitative trait locus 10; BMIQ10
|
|
1
|
0
|
|
Bone density defects
|
|
1
|
0
|
|
Bone mineral density, low, susceptibility to
|
|
1
|
0
|
|
Bone resorption
|
|
1
|
0
|
|
Bosch-Boonstra-Schaaf optic atrophy syndrome; BBSOAS
|
Optic atrophy-intellectual disability syndrome
|
1
|
0
|
|
Brachydactyly-mental retardation syndrome; BDMR
|
2q37 microdeletion syndrome
|
1
|
0
|
|
Brachydactyly, type A2; BDA2
|
Brachydactyly
|
1
|
0
|
|
Brachydactyly, type B1; BDB1
|
Brachydactyly |
Brachydactyly type B
|
1
|
0
|
|
Brachydactyly, type C; BDC
|
Brachydactyly
|
1
|
0
|
|
Brachyolmia type 3
|
Autosomal dominant brachyolmia |
Brachyolmia
|
1
|
0
|
|
Bradyopsia
|
PERRS |
prolonged electroretinal response suppression
|
1
|
0
|
|
Brain dopamine-serotonin vesicular transport disease
|
|
1
|
0
|
|
Branched-chain ketoacid dehydrogenase kinase deficiency
|
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
|
1
|
0
|
|
Breast cancer
|
|
18
|
0
|
|
Bronchial asthma
|
|
1
|
0
|
|
Bronchiectasis with or without elevated sweat chloride 1, BESC1
|
Bronchiectasis |
Idiopathic bronchiectasis
|
2
|
0
|
|
Bronchiectasis with or without elevated sweat chloride 2; BESC2
|
Bronchiectasis |
Idiopathic bronchiectasis
|
1
|
0
|
|
Bronchiectasis with or without elevated sweat chloride 3; BESC3
|
Bronchiectasis |
Idiopathic bronchiectasis
|
1
|
0
|
|
Bronchospasm
|
bronchial disease
|
0
|
1
|
|
Brugada syndrome
|
|
1
|
0
|
|
Brugada syndrome 1; BRGDA1
|
Brugada syndrome
|
2
|
0
|
|
Brugada syndrome 3; BRGDA3
|
Brugada syndrome
|
1
|
0
|
|
Brugada syndrome 8; BRGDA8
|
Brugada syndrome
|
1
|
0
|
|
Brugada syndrome 9; BRGDA9
|
Brugada syndrome
|
1
|
0
|
|
Brunner syndrome
|
Monoamine oxidase A deficiency
|
1
|
0
|
|
Budd-Chiari syndrome
|
|
2
|
0
|
|
Bullous diffuse cutaneous mastocytosis
|
|
1
|
0
|
|
Bullous pemphigoid
|
|
1
|
0
|
|
Butyrylcholinesterase deficiency
|
|
1
|
0
|
| |
| C |
Back to top |
|
Camptodactyly, tall stature, and hearing loss syndrome
|
Camptodactyly - tall stature - scoliosis - hearing loss
|
1
|
0
|
|
Cancer
|
|
2
|
0
|
|
Candidemia
|
Candidiasis
|
1
|
0
|
|
CANDLE syndrome
|
Autoinflammation, lipodystrophy, and dermatosis syndrome |
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
|
1
|
0
|
|
Cantu Syndrome
|
Hypertrichotic osteochondrodysplasia, Cantu type
|
2
|
0
|
|
Carboxypeptidase N deficiency
|
|
1
|
0
|
|
Cardiac arrhythmia
|
|
2
|
0
|
|
Cardiac conduction disease with or without dilated cardiomyopathy; CCDD
|
|
1
|
0
|
|
Cardiac hypertrophy
|
|
1
|
0
|
|
Cardiofaciocutaneous syndrome 1; CFC1
|
Cardiofaciocutaneous syndrome
|
1
|
0
|
|
Cardiofaciocutaneous syndrome 2; CFC2
|
Cardiofaciocutaneous syndrome
|
1
|
0
|
|
Cardiofaciocutaneous syndrome 3; CFC3
|
Cardiofaciocutaneous syndrome
|
1
|
0
|
|
Cardiofaciocutaneous syndrome 4; CFC4
|
Cardiofaciocutaneous syndrome
|
1
|
0
|
|
Cardiomyopathy, dilated, 1E; CMD1E
|
Dilated cardiomyopathy |
Familial isolated dilated cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, dilated, 1G; CMD1G
|
Dilated cardiomyopathy |
Familial isolated dilated cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, dilated, 1O; CMD1O
|
Dilated cardiomyopathy |
Familial isolated dilated cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, dilated, 1U; CMD1U
|
Dilated cardiomyopathy |
Familial isolated dilated cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, dilated, 1V; CMD1V
|
Dilated cardiomyopathy |
Familial isolated dilated cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, familial hypertrophic, 1; CMH1
|
Familial hypertrophic cardiomyopathy |
Familial isolated hypertrophic cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, familial hypertrophic 6; CMH6
|
Familial hypertrophic cardiomyopathy |
Familial isolated hypertrophic cardiomyopathy
|
1
|
0
|
|
Cardiomyopathy, familial hypertrophic, 9; CMH9
|
Familial hypertrophic cardiomyopathy |
Familial isolated hypertrophic cardiomyopathy
|
1
|
0
|
|
Cardiovascular disease
|
|
2
|
0
|
|
Carney complex, type 1; CNC1
|
Carney complex
|
1
|
0
|
|
Carotid intimal medial thickness 1
|
|
1
|
0
|
|
Cataract 26, multiple types; CTRCT26
|
|
1
|
0
|
|
Caudal agenesis type II
|
|
1
|
0
|
|
Celiac disease
|
|
3
|
1
|
|
Celiac disease, susceptibility to, 3; CELIAC3
|
Celiac disease |
Gluten-sensitive enteropathy, susceptibility to, 3
|
1
|
0
|
|
Central areolar choroidal dystrophy
|
|
1
|
0
|
|
Central core disease of muscle
|
Central core disease |
Central core myopathy |
Moderate multiminicore disease with hand involvement
|
1
|
0
|
|
Central hypoventilation syndrome, congenital; CCHS
|
Haddad syndrome |
Ondine-Hirschsprung disease
|
1
|
0
|
|
Cerebellar ataxia
|
|
1
|
0
|
|
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN
|
|
1
|
0
|
|
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL
|
Hereditary multi-infarct dementia
|
1
|
0
|
|
Cerebral malaria
|
Malaria, susceptibility to
|
1
|
0
|
|
Cerebral sinovenous thrombosis
|
|
2
|
0
|
|
Cerebrovascular disease
|
|
1
|
0
|
|
Ceroid lipofuscinosis, neuronal, 10
|
Cathepsin D deficiency |
CLN10 disease |
Neuronal ceroid lipofuscinosis
|
1
|
0
|
|
Ceroid lipofuscinosis, neuronal, 13
|
CLN13 disease |
Neuronal ceroid lipofuscinosis
|
1
|
0
|
|
Cervical cancer
|
|
4
|
0
|
|
Cervical dystonia
|
Autosomal dominant cervical dystonia
|
1
|
0
|
|
Channelopathy-associated congenital insensitivity to pain
|
|
1
|
0
|
|
CHAPLE disorder; CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)
|
|
0
|
1
|
|
Charcot-Marie-Tooth disease type 2A
|
CMT2A2B
|
1
|
0
|
|
Charcot-Marie-Tooth disease, X-linked dominant, 6
|
X-linked Charcot-Marie-Tooth disease type 6
|
1
|
0
|
|
Chiari II malformation
|
|
1
|
0
|
|
Childhood absence epilepsy
|
|
1
|
0
|
|
Childhood acute lymphoblastic leukemia
|
acute lymphocytic leukemia
|
1
|
0
|
|
Chondrodysplasia, acromesomelic, with genital anomalies
|
|
1
|
0
|
|
Chondrodysplasia, Blomstrand type; BOCD
|
Blomstrand lethal chondrodysplasia
|
1
|
0
|
|
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
1
|
0
|
|
Chromosome 16p13.3 deletion syndrome
|
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
|
1
|
0
|
|
Chromosome 1p36 deletion syndrome
|
|
1
|
0
|
|
Chromosome 10q23 deletion syndrome
|
Juvenile polyposis of infancy
|
1
|
0
|
|
Chromosome 15q13.3 deletion syndrome
|
15q13.3 microdeletion syndrome |
Chromosome 15q13.3 microdeletion syndrome
|
1
|
0
|
|
Chromosome 22q11.2 deletion syndrome, distal
|
Distal 22q11.2 microdeletion syndrome
|
1
|
0
|
|
Chromosome 15q11-q13 duplication syndrome
|
|
1
|
0
|
|
Chronic granulomatous disease
|
Bridges-Good syndrome |
CGD |
Congenital dysphagocytosis |
Quie syndrome
|
0
|
1
|
|
Chronic idiopathic urticaria
|
|
0
|
2
|
|
Chronic lymphocytic leukemia
|
B-cell chronic lymphocytic leukemia |
Chronic lymphatic leukemia |
Chronic lymphoid leukemia
|
4
|
11
|
|
Chronic myelogenous leukemia
|
chronic granulocytic leukemia |
CML |
myeloid leukemia, chronic
|
0
|
1
|
|
Chronic myeloid leukemia
|
|
2
|
0
|
|
Chronic myelomonocytic leukemia
|
|
1
|
0
|
|
Chronic neuropathic pain
|
|
1
|
0
|
|
Chronic neutrophilic leukemia
|
|
1
|
0
|
|
Chronic obstructive pulmonary disease
|
|
0
|
42
|
|
CINCA syndrome
|
Chronic infantile neurological cutaneous articular syndrome
|
1
|
1
|
|
Classical phenylketonuria
|
Phenylketonuria
|
1
|
0
|
|
Classic mast cell leukemia
|
|
1
|
0
|
|
Cocoon syndrome
|
|
1
|
0
|
|
Coenzyme Q10 deficiency, primary, 4
|
Autosomal recessive ataxia due to ubiquinone deficiency |
Coenzyme Q10 deficiency disease
|
1
|
0
|
|
Coffin-Lowry syndrome
|
|
1
|
0
|
|
Coffin-Siris syndrome
|
|
1
|
0
|
|
Cognitive impairment with or without cerebellar ataxia
|
|
1
|
0
|
|
Cold agglutinin disease
|
autoimmune hemolytic anemia |
chronic cold agglutinin disease |
cold agglutinin syndrome
|
0
|
1
|
|
Colitis
|
|
3
|
5
|
|
Colorectal cancer
|
|
18
|
0
|
|
Colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6
|
Hereditary nonpolyposis colon cancer
|
1
|
0
|
|
Combined cervical dystonia
|
|
1
|
0
|
|
Combined immunodeficiency
|
|
1
|
0
|
|
Common variable immunodeficiency
|
|
3
|
0
|
|
Complement component C1r/C1s deficiency
|
Immunodeficiency due to an early component of complement deficiency
|
1
|
0
|
|
Complement component C1s deficiency
|
Immunodeficiency due to an early component of complement deficiency
|
1
|
0
|
|
Complement factor B deficiency; CFBD
|
|
1
|
0
|
|
Complement factor D deficiency; CFDD
|
Factor D deficiency |
Recurrent Neisseria infections due to factor D deficiency
|
1
|
0
|
|
Complete hydatidiform mole
|
Hydatidiform mole, recurrent, 1; HYDM1
|
1
|
0
|
|
Cone-rod dystrophy 6; CORD6
|
Cone rod dystrophy
|
1
|
0
|
|
Cone-rod dystrophy 9; CORD9
|
Cone rod dystrophy
|
1
|
0
|
|
Cone-rod dystrophy, X-linked, 3; CORDX3
|
Cone rod dystrophy
|
1
|
0
|
|
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
|
Congenital adrenal hyperplasia
|
1
|
0
|
|
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
|
Congenital adrenal hyperplasia
|
1
|
0
|
|
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency
|
Congenital adrenal hyperplasia
|
1
|
0
|
|
Congenital amegakaryocytic thrombocytopenia
|
|
1
|
0
|
|
Congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT
|
|
1
|
0
|
|
Congenital bilateral absence of vas deferens
|
|
1
|
0
|
|
Congenital bilateral aplasia of the vas deferens
|
|
1
|
0
|
|
Congenital heart defects, multiple types, 4; CHTD4
|
Complete atrioventricular canal |
Partial atrioventricular canal
|
1
|
0
|
|
Congenital hyperaldosteronism
|
|
0
|
0
|
|
Congenital hyperinsulinemic hypoglycemia
|
|
1
|
0
|
|
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
|
CLOVE syndrome
|
1
|
0
|
|
Congenital mesoblastic nephroma
|
|
1
|
0
|
|
Congenital non-bullous ichthyosiform erythroderma
|
|
1
|
0
|
|
Congenital stationary night blindness
|
|
1
|
0
|
|
Congenital toxoplasmosis
|
|
1
|
0
|
|
Corneal dystrophy, Fleck
|
CFD |
corneal dystrophy, Francois-Neetens speckled ro flecked
|
1
|
0
|
|
Corneal dystrophy, gelatinous drop-like; GDLD
|
Gelatinous drop-like corneal dystrophy
|
1
|
0
|
|
Corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED
|
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
|
1
|
0
|
|
Cornelia de Lange syndrome 5
|
Cornelia de Lange syndrome
|
1
|
0
|
|
Coronary artery disease
|
|
1
|
0
|
|
Coronary heart disease, susceptibility to, 5
|
Coronary heart disease
|
1
|
0
|
|
Coronary heart disease, susceptibility to, 6
|
Coronary heart disease
|
1
|
0
|
|
Coronary restenosis
|
|
1
|
0
|
|
Cortical dysplasia, complex, with other brain malformations 1; CDCBM1
|
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
|
1
|
0
|
|
Cortical dysplasia, complex, with other brain malformations 6; CDCBM6
|
|
1
|
0
|
|
Cortisone reductase deficiency 2
|
Hyperandrogenism due to cortisone reductase deficiency
|
1
|
0
|
|
Costello syndrome; CSTLO
|
|
1
|
0
|
|
Cowden syndrome 5; CWS5
|
Cowden disease |
Cowden syndrome
|
1
|
0
|
|
Cowden syndrome 6; CWS6
|
Cowden disease |
Cowden syndrome
|
1
|
0
|
|
Craniopharyngioma
|
|
1
|
0
|
|
Craniorachischisis
|
|
1
|
0
|
|
Craniosynostosis and dental anomalies
|
|
1
|
0
|
|
Crimean-Congo hemorrhagic fever
|
|
1
|
0
|
|
Crohn's disease
|
Crohn disease |
Inflammatory bowel disease 1; IBD1
|
4
|
27
|
|
Crouzon syndrome
|
Crouzon disease
|
1
|
0
|
|
Crouzon syndrome with acanthosis nigricans
|
|
1
|
0
|
|
Cryptorchidism
|
|
1
|
0
|
|
Cutaneous mastocytoma
|
|
1
|
0
|
|
Cutaneous T cell lymphoma
|
CTCL |
cutaneous T-cell lymphoma
|
0
|
2
|
|
Cutaneous telangiectasia and cancer syndrome, familial
|
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
|
1
|
0
|
|
Cyclic neutropenia
|
Cyclic hematopoiesis
|
1
|
0
|
|
Cystic fibrosis
|
|
1
|
0
|
| |
| D |
Back to top |
|
Deafness, autosomal dominant 2A; DFNA2A
|
Autosomal dominant nonsyndromic deafness |
Autosomal dominant non-syndromic sensorineural deafness type DFNA
|
1
|
0
|
|
Deafness, autosomal dominant 41; DFNA41
|
Autosomal dominant nonsyndromic deafness |
Autosomal dominant non-syndromic sensorineural deafness type DFNA
|
1
|
0
|
|
Deafness, autosomal recessive 30; DFNB30
|
Autosomal recessive nonsyndromic deafness |
Autosomal recessive non-syndromic sensorineural deafness type DFNB
|
1
|
0
|
|
Deafness, autosomal recessive 35; DFNB35
|
Autosomal recessive nonsyndromic deafness |
Autosomal recessive non-syndromic sensorineural deafness type DFNB
|
1
|
0
|
|
Deafness-infertility syndrome
|
Deafness, sensineural, and male infertility
|
1
|
0
|
|
Dedifferentiated liposarcoma
|
Liposarcoma
|
1
|
0
|
|
Deficiency of IL-36R antagonist
|
DITRA
|
0
|
1
|
|
Deficiency of IL-1 receptor antagonist
|
DIRA |
Interleukin-1 receptor antagonist deficiency |
OMPP |
sterile multifocal osteomyelitis with periostitis and pustulosis
|
0
|
1
|
|
Dehydrated hereditary stomatocytosis
|
|
1
|
0
|
|
Dental ankylosis
|
Tooth ankylosis
|
1
|
0
|
|
Dermatitis
|
|
1
|
14
|
|
Diabetes mellitus, insulin-dependent, 12; IDDM12
|
Insulin-dependent diabetes mellitus 12 |
type 1 diabetes mellitus
|
1
|
0
|
|
Diabetes mellitus, insulin-dependent, 22; IDDM22
|
|
1
|
0
|
|
Diabetes mellitus, insulin-dependent; IDDM
|
Type 1 diabetes mellitus
|
3
|
1
|
|
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A
|
Insulin-resistance syndrome type A
|
1
|
0
|
|
Diabetes mellitus, noninsulin-dependent; NIDDM
|
Diabetes mellitus, Type II; T2D |
Maturity onset diabetes |
Type 2 diabetes mellitus
|
15
|
1
|
|
Diabetes mellitus, permanent neonatal; PNDM
|
DEND syndrome |
Developmental delay-epilepsy-neonatal diabetes syndrome |
Permanent neonatal diabetes mellitus
|
3
|
0
|
|
Diabetes mellitus, transient neonatal, 2
|
Transient neonatal diabetes mellitus
|
1
|
0
|
|
Diabetes mellitus, transient neonatal, 3
|
Transient neonatal diabetes mellitus
|
1
|
0
|
|
Diamond-Blackfan anemia
|
|
1
|
0
|
|
Diarrhea 6; DIAR6
|
Chronic diarrhea due to guanylate cyclase 2C overactivity
|
1
|
0
|
|
Diarrhea 7; DIAR7
|
Congenital chronic diarrhea with protein-losing enteropathy
|
1
|
0
|
|
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
|
Hyperinsulinemic hypoglycemia, familial, 1; HHF1
|
1
|
0
|
|
Diffuse cutaneous systemic sclerosis
|
|
1
|
1
|
|
Diffuse large B-cell lymphoma
|
DLBCL |
DLBL
|
1
|
2
|
|
DiGeorge syndrome
|
|
1
|
0
|
|
Digital arthropathy-brachydactyly; familial; FDAB
|
Familial digital arthropathy-brachydactyly
|
1
|
0
|
|
Donohue syndrome
|
Leprechaunism
|
1
|
0
|
|
Dravet syndrome
|
Epileptic encephalopathy, early infantile, 6; EIEE6 |
Severe myoclonic epilepsy of infancy; SMEI
|
4
|
0
|
|
Duchenne muscular dystrophy
|
|
0
|
2
|
|
Dystonia 9; DYT9
|
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
|
1
|
0
|
|
Dystonia 3, torsion, X-linked; DYT3
|
X-linked dystonia-parkinsonism
|
1
|
0
|
| |
| E |
Back to top |
|
Early Infantile Epileptic Encephalopathy 42 (EIEE42)
|
|
1
|
0
|
|
Early infantile epileptic encephalopathy-69; EIEE69
|
EIEE69; Developmental and Epileptic Encephalopathy
|
1
|
0
|
|
Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy
|
|
1
|
0
|
|
Early repolarization syndrome
|
|
1
|
0
|
|
Ectodermal dysplasia-syndactyly syndrome
|
|
1
|
0
|
|
Eiken syndrome
|
|
1
|
0
|
|
Emesis
|
|
2
|
0
|
|
Enchondromatosis, multiple, Ollier type
|
Dyschondroplasia |
Enchondromatosis |
Ollier disease |
Osteochondromatosis
|
1
|
0
|
|
Endocrine-cerebroosteodysplasia
|
Endocrine-cerebro-osteodysplasia syndrome
|
1
|
0
|
|
Endocrine tumors
|
|
1
|
0
|
|
Endometrial cancer
|
|
5
|
0
|
|
Endometriosis
|
|
1
|
0
|
|
Endotoxin hyporesponsiveness
|
|
1
|
0
|
|
Enhanced S-cone syndrome; ESCS
|
Goldmann-Favre syndrome
|
1
|
0
|
|
Eosinophilic esophagitis
|
|
0
|
1
|
|
Epidermolysis bullosa dystrophica, autosomal recessive
|
Epidermolysis bullosa dystrophica |
Severe generalized recessive dystrophic epidermolysis bullosa
|
1
|
0
|
|
Epilepsy
|
|
5
|
0
|
|
Epilepsy and Autism
|
|
1
|
0
|
|
Epilepsy and Intellectual Disability
|
|
1
|
0
|
|
Epilepsy, childhood absence, susceptibility to, 2; ECA2
|
Childhood absence epilepsy
|
1
|
0
|
|
Epilepsy, childhood absence, susceptibility to, 5; ECA5
|
Childhood absence epilepsy
|
1
|
0
|
|
Epilepsy, childhood absence, susceptibility to, 6; ECA6
|
Childhood absence epilepsy
|
1
|
0
|
|
Epilepsy, focal, with speech disorder and with or without mental retardation; FESD
|
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6
|
Idiopathic generalized epilepsy
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10
|
Generalized epilepsy with febrile seizures-plus |
Idiopathic generalized epilepsy
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 11; EIG11
|
Idiopathic generalized epilepsy
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 12; EIG12
|
Idiopathic generalized epilepsy
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 13; EIG13
|
Childhood absence epilepsy |
Idiopathic generalized epilepsy |
Juvenile myoclonic epilepsy
|
1
|
0
|
|
Epilepsy, idiopathic generalized, susceptibility to, 8; EIG8
|
Idiopathic generalized epilepsy
|
1
|
0
|
|
Epilepsy, juvenile myoclonic, susceptibility to, 7; EJM7
|
Juvenile myoclonic epilepsy
|
1
|
0
|
|
Epilepsy, juvenile myoclonic, susceptibility to, 8; EJM8
|
Juvenile myoclonic epilepsy
|
1
|
0
|
|
Epilepsy, nocturnal frontal lobe, 1; ENFL1
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
1
|
0
|
|
Epilepsy, nocturnal frontal lobe, 3; ENFL3
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
1
|
0
|
|
Epilepsy, nocturnal frontal lobe 4, ENFL4
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
1
|
0
|
|
Epilepsy, nocturnal frontal lobe, 5; ENFL5
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
1
|
0
|
|
Epilepsy, progressive myoclonic 7; EPM7
|
Progressive myoclonus epilepsy
|
1
|
0
|
|
Epileptic encephalopathy
|
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 11; EIEE11
|
Early infantile epileptic encephalopathy |
Infantile epileptic encephalopathy
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 13; EIEE13
|
Early infantile epileptic encephalopathy |
Infantile epileptic encephalopathy
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 14; EIEE14
|
Infantile epileptic encephalopathy |
Malignant migrating partial seizures of infancy
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 24; EIEE24
|
Early infantile epileptic encephalopathy |
Infantile epileptic encephalopathy
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 2; EIEE2
|
Early infantile epileptic encephalopathy |
Infantile epileptic encephalopathy
|
1
|
0
|
|
Epileptic encephalopathy, early infantile, 7; EIEE7
|
Early infantile epileptic encephalopathy |
Infantile epileptic encephalopathy
|
1
|
0
|
|
Epileptic encephalopathy with continuous spike-and-wave during sleep
|
|
1
|
0
|
|
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
Wolcott-Rallison syndrome
|
1
|
0
|
|
Episodic ataxia, type 1; EA1
|
Episodic ataxia |
Hereditary continuous muscle fiber activity
|
1
|
0
|
|
Episodic ataxia, type 2; EA2
|
Episodic ataxia |
Familial paroxysmal ataxia
|
1
|
0
|
|
Episodic pain syndrome, familial, 1; FEPS1
|
Familial episodic pain syndrome |
Familial episodic pain syndrome with predominantly upper body involvement
|
1
|
0
|
|
Episodic pain syndrome, familial, 2; FEPS2
|
Sodium channelopathy-related small fiber neuropathy
|
1
|
0
|
|
Episodic pain syndrome, familial, 3; FEPS3
|
Familial episodic pain syndrome |
Familial episodic pain syndrome with predominantly lower limb involvement
|
1
|
0
|
|
Erythermalgia
|
Primary erythermalgia |
Sodium channelopathy-related small fiber neuropathy
|
1
|
0
|
|
Erythrocytosis, familial, 1; ECYT1
|
Primary familial polycythemia
|
1
|
0
|
|
Erythrocytosis, familial, 3; ECYT3
|
Autosomal dominant secondary polycythemia
|
1
|
0
|
|
Esophageal cancer
|
|
4
|
0
|
|
Estrogen resistance; ESTRR
|
Estrogen resistance syndrome
|
1
|
0
|
|
Extraskeletal myxoid chondrosarcoma
|
|
1
|
0
|
|
Exudative vitreoretinopathy 1; EVR1
|
Exudative vitreoretinopathy |
Familial exudative vitreoretinopathy
|
1
|
0
|
| |
| F |
Back to top |
|
Factor V deficiency
|
|
1
|
0
|
|
Factor VII deficiency
|
|
2
|
0
|
|
Factor VIII deficiency
|
|
1
|
0
|
|
Factor X deficiency
|
|
1
|
0
|
|
Factor XI deficiency
|
hemophilia C |
plasma thromboplastin antecedent (PTA) deficiency |
Rosenthal syndrome
|
1
|
0
|
|
Factor XII deficiency
|
|
1
|
0
|
|
Failure of tooth eruption, primary; PFE
|
|
1
|
0
|
|
Familial amyloid cardiomyopathy
|
Transthyretin amyloid cardiopathy |
Transthyretin amyloidosis |
Transthyretin-related familial amyloid cardiomyopathy |
TTR-related cardiac amyloidosis
|
1
|
0
|
|
Familial cerebral saccular aneurysm
|
|
1
|
0
|
|
Familial cold autoinflammatory syndrome 1; FCAS1
|
Familial cold urticaria
|
1
|
2
|
|
Familial cold autoinflammatory syndrome 2; FCAS2
|
NLRP12-associated hereditary periodic fever syndrome
|
1
|
0
|
|
Familial cold autoinflammatory syndrome 4; FCAS4
|
|
1
|
0
|
|
Familial combined hyperlipidemia
|
|
1
|
0
|
|
Familial gestational hyperthyroidism
|
|
1
|
0
|
|
Familial hyperaldosteronism type I
|
Glucocorticoid-remediable aldosteronism; GRA
|
1
|
0
|
|
Familial hyperaldosteronism type III
|
|
1
|
0
|
|
Familial Hyperaldosteronism Type IV
|
|
1
|
0
|
|
Familial hypocalciuric hypercalcemia type 1
|
|
1
|
0
|
|
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
|
|
1
|
0
|
|
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
|
|
1
|
0
|
|
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
|
|
1
|
0
|
|
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
|
|
1
|
0
|
|
Familial isolated hypoparathyroidism due to impaired PTH secretion
|
|
1
|
0
|
|
Familial pancreatic carcinoma
|
Pancreatic cancer |
Pancreatic carcinoma
|
1
|
0
|
|
Familial partial lipodystrophy associated with PPARG mutations
|
Familial partial lipodystrophy |
Lipodystrophy, familial partial, type 3; FPLD3
|
1
|
0
|
|
Familial partial lipodystrophy due to AKT2 mutations
|
Familial partial lipodystrophy
|
1
|
0
|
|
Familial prostate cancer
|
Prostate cancer
|
2
|
0
|
|
Familial thrombocytosis
|
essential thrombocythaemia |
hemorrhagic thrombocythemia |
hereditary thrombocythemia |
primary thrombocytosis
|
2
|
0
|
|
Fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1
|
|
2
|
0
|
|
Febrile and afebrile seizures
|
|
1
|
0
|
|
Febrile Convulsions, Familial 8, FEB8
|
Generalized epilepsy with febrile seizures-plus
|
1
|
0
|
|
Febrile seizures, familial, 1; FEB1
|
|
1
|
0
|
|
Febrile seizures, familial, 4; FEB4
|
|
1
|
0
|
|
Fertile eunuch syndrome
|
|
1
|
0
|
|
FG syndrome 4
|
FG syndrome |
Keller syndrome
|
1
|
0
|
|
Fibrodysplasia ossificans progressiva
|
|
1
|
0
|
|
Fibrosarcoma
|
|
1
|
0
|
|
Fibrosis
|
|
1
|
0
|
|
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A
|
Congenital fibrosis of extraocular muscles
|
1
|
0
|
|
focal dermal hypoplasia
|
|
1
|
0
|
|
Focal segmental glomerulosclerosis 2; FSGS2
|
Focal segmental glomerulosclerosis
|
1
|
0
|
|
Follicular lymphoma
|
|
0
|
1
|
|
Frontotemporal dementia
|
|
1
|
0
|
|
Functional dyspepsia
|
Dyspepsia
|
1
|
0
|
| |
| G |
Back to top |
|
GABA-transaminase deficiency
|
GABA aminotransferase deficiency |
Gamma-aminobutyric acid transaminase deficiency
|
1
|
0
|
|
Galactosialidosis
|
|
1
|
0
|
|
Gastric cancer
|
Stomach cancer
|
8
|
0
|
|
Gastric cancer, hereditary diffuse; HDGC
|
|
1
|
0
|
|
Gastritis
|
|
1
|
0
|
|
Gastrointestinal neuroendocrine tumor
|
|
1
|
0
|
|
Gastrointestinal stromal tumor
|
|
2
|
0
|
|
Generalized epilepsy and paroxysmal dyskinesia
|
|
1
|
0
|
|
Generalized epilepsy with febrile seizures-plus
|
|
1
|
0
|
|
Generalized epilepsy with febrile seizures plus, type 1; GEFSP1
|
Generalized epilepsy with febrile seizures-plus
|
1
|
0
|
|
Generalized epilepsy with febrile seizures plus, type 2; GEFSP2
|
Generalized epilepsy with febrile seizures-plus
|
1
|
0
|
|
Generalized epilepsy with febrile seizures plus; type 3; GEFSP3
|
Generalized epilepsy with febrile seizures-plus
|
1
|
0
|
|
Generalized epilepsy with febrile seizures plus, type 7; GEFSP7
|
Generalized epilepsy with febrile seizures-plus
|
1
|
0
|
|
Generalized juvenile polyposis/juvenile polyposis coli
|
Juvenile polypolis syndrome; JPS
|
1
|
0
|
|
Generalized resistance to thyroid hormone
|
Thyroid hormone resistance, generalized, autosomal dominant; GRTH |
Thyroid hormone resistance, generalized, autosomal recessive; GRTH |
Thyroid hormone resistance syndrome
|
1
|
0
|
|
Giant cell glioblastoma
|
Glioma susceptibility 1; GLM1
|
4
|
0
|
|
Gitelman syndrome
|
|
1
|
0
|
|
Glioblastoma
|
Glioblastoma multiforme |
Glioma susceptibility 1; GLM1
|
2
|
0
|
|
Gliosarcoma
|
|
4
|
0
|
|
Glucocorticoid deficiency 1; GCCD1
|
Familial glucocorticoid deficiency
|
1
|
0
|
|
Glucocorticoid resistance, generalized; GCCR
|
|
1
|
0
|
|
Glucocorticoid sensitivity
|
|
1
|
0
|
|
Glucose/galactose malabsorption; GGM
|
Glucose-galactose malabsorption
|
1
|
0
|
|
GLUT1 deficiency syndrome 1; GLUT1DS1
|
Encephalopathy due to GLUT1 deficiency
|
1
|
0
|
|
GLUT1 deficiency syndrome 2; GLUT1DS2
|
Paroxysmal exertion-induced dyskinesia
|
1
|
0
|
|
Glycogen storage disease due to muscle phosphorylase kinase deficiency
|
Glycogen storage disease IX
|
1
|
0
|
|
Glycogen storage disease II; GSD2
|
Glycogen storage disease due to acid maltase 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 |
Pompe disease
|
1
|
0
|
|
Glycogen storage disease IXc
|
Glycogen storage disease due to liver phosphorylase kinase deficiency |
Glycogen storage disease IX
|
1
|
0
|
|
Glycogen storage disease of heart, lethal congenital
|
|
1
|
0
|
|
Gout
|
|
1
|
3
|
|
Graft versus host disease
|
graft-versus-host disease |
GvHD
|
1
|
7
|
|
Gram negative infection
|
|
1
|
0
|
|
Graves' disease
|
|
1
|
2
|
|
Griscelli syndrome, type 2
|
|
1
|
0
|
|
Growth hormone deficiency, isolated partial; GHDP
|
Short stature due to GHSR deficiency
|
1
|
0
|
|
Growth hormone insensitivity, partial; GHIP
|
Short stature due to partial GHR deficiency
|
1
|
0
|
| |
| H |
Back to top |
|
Haim-Munk syndrome
|
|
1
|
0
|
|
Hairy cell leukemia
|
|
1
|
0
|
|
Hajdu-Cheney syndrome; HJCYS
|
Acroosteolysis dominant type
|
1
|
0
|
|
Hartsfield syndrome
|
|
1
|
0
|
|
Hashimoto-Pritzker syndrome
|
|
1
|
0
|
|
Hashimoto thyroiditis
|
Autoimmune thyroiditis |
Hashimoto struma
|
1
|
0
|
|
Hawkinsinuria
|
|
1
|
0
|
|
Heart failure
|
|
1
|
0
|
|
Hemangioma, capillary infantile
|
Familial capillary hemangioma
|
2
|
0
|
|
Hematological malignancies
|
|
1
|
0
|
|
Hemimegalencephaly
|
|
2
|
0
|
|
Hemolytic anemia due to glutathione reductase deficiency
|
|
1
|
0
|
|
Hemolytic uremic syndrome, atypical, susceptibility to, 4
|
Atypical hemolytic-uremic syndrome with B factor anomaly |
Hemolytic-uremic syndrome
|
1
|
0
|
|
Hemophagocytic lymphohistiocytosis
|
Hemophagocytic syndrome
|
1
|
1
|
|
Hepatitis C infection
|
|
1
|
0
|
|
Hepatocellular carcinoma
|
|
4
|
0
|
|
Hereditary angioedema
|
HAE
|
0
|
2
|
|
Hereditary breast and ovarian cancer syndrome
|
Hereditary breast ovarian cancer
|
1
|
0
|
|
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
|
hemorrhagic telangiectasia type 1 |
Osler hemorrhagic telangiectasia syndrome |
Osler-Rendu-Weber disease
|
1
|
0
|
|
Hereditary motor and sensory neuropathy, type IIC, HMSN2C
|
Autosomal dominant Charcot-Marie-Tooth disease type 2C |
Charcot-Marie-Tooth disease type 2
|
1
|
0
|
|
Hereditary myopathy with early respiratory failure
|
Hereditary proximal myopathy with early respiratory failure
|
1
|
0
|
|
Hereditary nonpolyposis colon cancer
|
|
2
|
0
|
|
Hereditary pancreatitis
|
Hereditary chronic pancreatitis
|
4
|
0
|
|
Hereditary sensory and autonomic neuropathy type 2
|
Hereditary sensory and autonomic neuropathy
|
1
|
0
|
|
Hereditary sensory and autonomic neuropathy type 5
|
Hereditary sensory and autonomic neuropathy
|
1
|
0
|
|
Heritable pulmonary arterial hypertension
|
|
2
|
0
|
|
Herpes simplex encephalitis, susceptibility to, 2
|
Herpes simplex virus encephalitis |
Herpetic encephalitis
|
1
|
0
|
|
Herpetic encephalitis
|
Herpes simplex encephalitis |
Herpes simplex virus encephalitis |
HSV encephalitis
|
1
|
0
|
|
Heterotaxy, visceral, 4, autosomal; HTX4
|
Situs ambiguus |
Visceral heterotaxy
|
1
|
0
|
|
Hirschsprung disease
|
|
2
|
0
|
|
Hirschsprung disease, cardiac defects, and autonomic dysfunction
|
|
1
|
0
|
|
Hirschsprung disease, susceptibility to, 1; HSCR1
|
Hirschsprung disease
|
1
|
0
|
|
Hirschsprung disease, susceptibility to, 2; HSCR2
|
Hirschsprung disease
|
1
|
0
|
|
Honey-droplet corneal dystrophy
|
|
1
|
0
|
|
Human immunodeficiency virus type 1, susceptibility to
|
Human immunodeficiency virus infectious disease
|
8
|
0
|
|
Huntington disease
|
Huntington's disease
|
2
|
0
|
|
Hydrocephalus
|
|
1
|
0
|
|
Hydromyelia
|
|
1
|
0
|
|
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
|
|
1
|
0
|
|
Hyperalgesia
|
|
1
|
0
|
|
Hyperammonemia due to carbonic anhydrase VA deficiency
|
|
1
|
0
|
|
Hyperchlorhidrosis, isolated
|
|
1
|
0
|
|
Hypercholesterolemia
|
|
1
|
0
|
|
Hypercholesterolemia; autosomal dominant, 3
|
Familial hypercholesterolemia
|
1
|
0
|
|
Hypercholesterolemia, familial
|
|
1
|
0
|
|
Hyperekplexia, hereditary 1; HKPX1
|
Hereditary hyperekplexia
|
1
|
0
|
|
Hyperekplexia 2; HKPX2
|
Hereditary hyperekplexia
|
1
|
0
|
|
Hypereosinophilic syndrome, idiopathic; HES
|
Hypereosinophilic syndrome of undetermined significance
|
1
|
1
|
|
Hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator
|
|
1
|
0
|
|
Hyper-IgD syndrome
|
Hyperimmunoglobulinemia D with periodic fever
|
1
|
0
|
|
Hyperinsulinemic hypoglycemia, familial, 2; HHF2
|
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
Hyperinsulinemic hypoglycemia |
Persistent hyperinsulinemic hypoglycemia of infancy
|
1
|
0
|
|
Hyperinsulinemic hypoglycemia, familial, 3; HHF3
|
Hyperinsulinemic hypoglycemia |
Hyperinsulinism due to glucokinase deficiency
|
1
|
0
|
|
Hyperinsulinemic hypoglycemia, familial, 5; HHF5
|
Hyperinsulinemic hypoglycemia |
Hyperinsulinism due to INSR deficiency
|
1
|
0
|
|
Hyperinsulinism due to HNF4A deficiency
|
Hyperinsulinism
|
1
|
0
|
|
Hyperkalemic Periodic Paralysis; HYPP
|
|
1
|
0
|
|
Hypertension, essential
|
|
3
|
0
|
|
Hyperuricemic nephropathy, familial juvenile 2; HNFJ2
|
Familial juvenile hyperuricemic nephropathy |
Hyperuricemia - anemia - renal failure
|
1
|
0
|
|
Hypocalcemia, autosomal dominant, with Bartter syndrome
|
Autosomal dominant hypocalcemia |
Bartter syndrome with hypocalcemia
|
1
|
0
|
|
Hypochondroplasia
|
|
1
|
0
|
|
Hypoglycemia, Leucine-Induced; LIH
|
|
1
|
0
|
|
Hypogonadotropic hypogonadism 11 with or without anosmia; HH11
|
Kallmann syndrome |
Normosmic congenital hypogonadotropic hypogonadism
|
1
|
0
|
|
Hypogonadotropic hypogonadism 2 with or without anosmia; HH2
|
Kallmann syndrome |
Normosmic congenital hypogonadotropic hypogonadism
|
1
|
0
|
|
Hypogonadotropic hypogonadism 3 with or without anosmia; HH3
|
Kallmann syndrome
|
1
|
0
|
|
Hypogonadotropic hypogonadism 7 with or without anosmia; HH7
|
Idiopathic hypogonadotropic hypogonadism |
Isolated hypogonadotropic hypogonadism
|
1
|
0
|
|
Hypogonadotropic hypogonadism 8 with or without anosmia; HH8
|
Kallmann syndrome |
Normosmic congenital hypogonadotropic hypogonadism
|
1
|
0
|
|
Hypoinsulinemic hypoglycemia with hemihypertrophy
|
|
1
|
0
|
|
Hypokalemic periodic paralysis, type 1; HOKPP1
|
Hypokalemic periodic paralysis
|
1
|
0
|
|
Hypokalemic periodic paralysis, type 2; HOKPP2
|
Hypokalemic periodic paralysis
|
1
|
0
|
|
Hypomagnesemia 2, renal; HOMG2
|
Autosomal dominant primary hypomagnesemia with hypocalciuria
|
1
|
0
|
|
Hyponatremia
|
|
1
|
0
|
|
Hypopituitarism with pituitary stalk interruption
|
|
1
|
0
|
|
Hypoplasminogenemia
|
Plasminogen deficiency type 1
|
1
|
0
|
|
Hypospadias 1, X-linked; HYSP1
|
Familial hypospadia
|
1
|
0
|
|
Hypothalamic amenorrhea
|
|
1
|
0
|
|
Hypothyroidism, congenital, nongoitrous, 1; CHNG1
|
Congenital hypothyroidism |
Hypothyroidism due to TSH receptor mutations
|
1
|
0
|
|
Hypothyroidism, congenital, nongoitrous, 3; CHNG3
|
Congenital hypothyroidism |
Peripheral resistance to thyroid hormones
|
1
|
0
|
|
Hypothyroidism, congenital, nongoitrous, 6; CHNG6
|
Congenital hypothyroidism |
Peripheral resistance to thyroid hormones
|
1
|
0
|
|
Hypotrichosis 8; HYPT8
|
Hypotrichosis |
Hypotrichosis simplex |
Woolly hair
|
1
|
0
|
| |
| I |
Back to top |
|
Ichthyosis, congenital, autosomal recessive 4A; ARCI4A
|
Lamellar ichthyosis
|
1
|
0
|
|
Ichthyosis, congenital, autosomal recessive 11; ARCI11
|
Ichthyosis-hypotrichosis syndrome
|
1
|
0
|
|
Ichthyosis, congenital, autosomal recessive 4B; ARCI4B
|
Harlequin ichthyosis
|
1
|
0
|
|
Idiopathic hypogonadotropic hypogonadism
|
|
1
|
0
|
|
Idiopathic pulmonary fibrosis
|
|
1
|
6
|
|
Idiopathic ventricular fibrillation
|
|
1
|
0
|
|
IgE responsiveness, atopic; IGER
|
|
2
|
0
|
|
Immunodeficiency 9
|
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
|
1
|
0
|
|
Immunodeficiency, common variable, 3; CVID3
|
Common variable immunodeficiency
|
1
|
0
|
|
Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)
|
|
1
|
0
|
|
Immunodeficiency 15; IMD15
|
Severe combined immunodeficiency due to IKK2 deficiency
|
1
|
0
|
|
Immunodeficiency 18; IMD18
|
CD3epsilon deficiency |
Immunodeficiency 18, SCID variant |
Immunodeficiency 18, Severe combined immunodeficiency variant |
Severe combined immunodeficiency |
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
|
1
|
0
|
|
Immunodeficiency 35; IMD35
|
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency |
Tyrosine kinase 2 deficiency
|
1
|
0
|
|
Immunodeficiency 26 with or without neurologic abnormalities; IMD26
|
Severe combined immunodeficiency due to DNA-PKcs deficiency
|
1
|
0
|
|
Immunoglobulin A vasculitis
|
Henoch-Schönlein Purpura
|
1
|
0
|
|
Increased analgesia from kappa-opioid receptor agonist, female-specific
|
|
1
|
0
|
|
Indifference to pain, congenital, autosomal recessive; CIP
|
Channelopathy-associated congenital insensitivity to pain
|
1
|
0
|
|
Infantile nephronophthisis
|
|
1
|
0
|
|
Inflammation
|
|
1
|
0
|
|
Inflammatory bowel disease
|
Inflammatory bowel disease
|
1
|
7
|
|
Inflammatory myofibroblastic tumor
|
|
1
|
1
|
|
Inflammatory skin and bowel disease, neonatal, 1; NISBD1
|
Neonatal inflammatory skin and bowel disease
|
1
|
0
|
|
Inflammatory skin and bowel disease, neonatal, 2; NISBD2
|
Neonatal inflammatory skin and bowel disease
|
1
|
0
|
|
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
|
|
1
|
0
|
|
Injury aggravation in neurotrauma
|
|
1
|
0
|
|
Insensitivity to pain, congenital, with anhidrosis; CIPA
|
Hereditary sensory and autonomic neuropathy |
Hereditary sensory and autonomic neuropathy type 4
|
1
|
0
|
|
Insomnia
|
|
1
|
0
|
|
Insulin-like growth factor I, resistance to
|
Growth delay due to insulin-like growth factor I resistance
|
1
|
0
|
|
Insulinoma
|
|
1
|
0
|
|
Intermittent hypoxia-induced atherogenesis
|
|
1
|
0
|
|
Interstitial cystitis
|
|
2
|
1
|
|
Intervertebral disc disease; IDD
|
|
1
|
0
|
|
Intrahepatic cholestasis of pregnancy
|
|
1
|
0
|
|
Invasive pneumococcal disease, recurrent isolated, 1; IPD1
|
|
1
|
0
|
|
IRAK4 deficiency
|
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
|
1
|
0
|
|
Iron-refractory iron deficiency anemia; IRIDA
|
IRIDA syndrome
|
1
|
0
|
|
Irritable bowel syndrome
|
|
4
|
0
|
|
Ischemia
|
|
1
|
0
|
|
Ischemia-reperfusion injury
|
|
1
|
0
|
|
Isolated autosomal dominant hypomagnesemia, Glaudemans type
|
|
1
|
0
|
|
Isolated bone marrow mastocytosis
|
|
1
|
0
|
|
Isolated brachycephaly
|
|
1
|
0
|
|
Isolated cloverleaf skull syndrome
|
|
1
|
0
|
|
Isolated growth hormone deficiency type IB
|
|
1
|
0
|
|
Isolated growth hormone deficiency, Type III
|
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
|
1
|
0
|
|
Isolated plagiocephaly
|
|
1
|
0
|
| |
| J |
Back to top |
|
Jackson-Weiss syndrome
|
Craniosynostosis - midfacial hypoplasia - foot abnormalities
|
2
|
0
|
|
Jervell and Lange-Nielsen syndrome 1; JLNS1
|
Jervell and Lange-Nielsen syndrome |
Jervell-Lange Nielsen syndrome
|
1
|
0
|
|
JMP syndrome
|
Autoinflammation, lipodystrophy, and dermatosis syndrome |
Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
|
1
|
0
|
|
Juvenile idiopathic arthritis
|
JIA |
juvenile Still's disease
|
0
|
3
|
|
Juvenile idiopathic arthritis- polyarticular
|
|
0
|
0
|
|
Juvenile idiopathic arthritis- systemic
|
systemic juvenile rheumatoid arthritis
|
0
|
4
|
|
Juvenile myelomonocytic leukemia; JMML
|
|
2
|
0
|
|
Juvenile myoclonic epilepsy
|
|
1
|
0
|
|
Juvenile rheumatoid factor-negative polyarthritis
|
|
1
|
0
|
| |
| K |
Back to top |
|
Kawasaki disease
|
infantile polyarteritis |
mucocutaneous lymph node syndrome
|
1
|
0
|
|
keratoconjunctivitis sicca
|
dry eye disease |
KCS |
keratitis sicca
|
0
|
2
|
|
Keratosis, seborrheic
|
Seborrheic keratosis
|
2
|
0
|
|
King-Denborough syndrome
|
|
1
|
0
|
|
Kleefstra syndrome
|
|
1
|
0
|
|
Klinefelter syndrome
|
Klinefelter's syndrome
|
1
|
0
|
| |
| L |
Back to top |
|
Lacrimoauriculodentodigital syndrome
|
LADD syndrome
|
2
|
0
|
|
Landau-Kleffner syndrome
|
|
1
|
0
|
|
Large congenital melanocytic nevus
|
Congenital melanocytic nevus
|
1
|
0
|
|
Laron syndrome
|
|
1
|
0
|
|
Lateral meningocele syndrome; LMNS
|
|
1
|
0
|
|
Leber congenital amaurosis 11; LCA11
|
Amaurosis congenita of Leber |
Leber congenital amaurosis
|
1
|
0
|
|
Leber congenital amaurosis 16; LCA16
|
Amaurosis congenita of Leber |
Leber congenital amaurosis
|
1
|
0
|
|
Leber congenital amaurosis 1; LCA1
|
Amaurosis congenita of Leber |
Leber congenital amaurosis
|
1
|
0
|
|
Legionnaire disease, susceptibility to
|
Legionnaires' disease
|
1
|
0
|
|
Lennox-Gastaut syndrome
|
|
2
|
0
|
|
LEOPARD syndrome 2; LPRD2
|
LEOPARD syndrome
|
1
|
0
|
|
LEOPARD syndrome 3; LPRD3
|
LEOPARD syndrome
|
1
|
0
|
|
Leprosy, susceptibility to, 3; LPRS3
|
|
1
|
0
|
|
Leprosy, susceptibility to, 5; LPRS5
|
Leprosy
|
1
|
0
|
|
Lethal congenital contractural syndrome 2; LCCS2
|
|
1
|
0
|
|
Lethal congenital contractural syndrome 3; LCCS3
|
|
1
|
0
|
|
leukocyte adhesion deficiency type 1
|
|
1
|
0
|
|
Leukoencephalopathy, diffuse hereditary, with spheroids
|
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
|
1
|
0
|
|
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
|
|
1
|
0
|
|
Leydig cell hypoplasia due to complete LH resistance
|
|
1
|
0
|
|
Leydig cell hypoplasia due to partial LH resistance
|
|
1
|
0
|
|
Leydig cell hypoplasia, type 1
|
|
1
|
0
|
|
Liddle syndrome; LIDLS
|
|
2
|
0
|
|
Li-Fraumeni syndrome
|
|
1
|
0
|
|
Ligneous conjunctivitis
|
|
1
|
0
|
|
Limited cutaneous systemic sclerosis
|
|
1
|
0
|
|
Lipodystrophy, familial partial, type 6; FPLD6
|
Familial partial lipodystrophy
|
1
|
0
|
|
Lipoma
|
|
1
|
0
|
|
Lipomyelocele
|
|
1
|
0
|
|
Lipomyelomeningocele
|
|
1
|
0
|
|
Lissencephaly 3
|
Lissencephaly due to TUBA1A mutation
|
1
|
0
|
|
Localized scleroderma
|
circumscribed scleroderma |
localised morphea |
morphea
|
0
|
1
|
|
Loeys-Dietz syndrome 1; LDS1
|
Loeys-Dietz syndrome
|
1
|
0
|
|
Loeys-Dietz syndrome 2; LDS2
|
Aortic aneurysm, familial thoratic 3; AAT3 |
Familial thoracic aortic aneurysm and aortic dissection |
Loeys-Dietz syndrome |
Marfan syndrome type 2
|
1
|
0
|
|
Lone Atrial Fibrillation
|
|
1
|
0
|
|
Long QT syndrome
|
|
0
|
0
|
|
Long QT syndrome 13; LQT13
|
Long QT syndrome |
Romano-Ward syndrome
|
1
|
0
|
|
Long QT syndrome 1; LQT1
|
Long QT syndrome |
Romano-Ward syndrome
|
1
|
0
|
|
Long QT syndrome 2; LQT2
|
Long QT syndrome |
Romano-Ward syndrome
|
1
|
0
|
|
Long QT syndrome 3; LQT3
|
Long QT syndrome |
Romano-Ward syndrome
|
1
|
0
|
|
Lung cancer
|
|
13
|
0
|
|
Lupus erythematosus
|
|
1
|
5
|
|
Lupus nephritis
|
|
1
|
1
|
|
Lyme disease
|
|
1
|
0
|
|
Lymphedema, hereditary IA
|
Hereditary lymphedema |
Milroy disease
|
1
|
0
|
|
Lymphoadenopathic mastocytosis with eosinophilia
|
|
1
|
0
|
|
Lymphoma, Hodgkin, Classic; CHL
|
Hodgkin lymphoma |
Hodgkin's lymphoma
|
1
|
3
|
|
Lymphoma, non-hodgkin, familial
|
Non-Hodgkin lymphoma
|
4
|
2
|
|
Lymphoproliferative syndrome 1
|
Autosomal recessive lymphoproliferative disease |
Lymphoproliferative disease
|
1
|
0
|
|
Lymphoproliferative syndrome, X-linked, 2; XLP2
|
Duncan disease |
Duncan's syndrome |
Lymphoproliferative disease |
X-linked lymphoproliferative disease
|
1
|
0
|
| |
| M |
Back to top |
|
Macrodactyly of fingers, unilateral
|
|
1
|
0
|
|
Macular degeneration, age-related, 10; ARMD10
|
Age related macular degeneration
|
1
|
0
|
|
Macular degeneration, age-related, 12; ARMD12
|
Age-related macular degeneration
|
1
|
0
|
|
Macular degeneration, age-related, 14; ARMD14
|
Age-related macular degeneration
|
1
|
0
|
|
Macular degeneration, age-related, 1; ARMD1
|
Age-related macular degeneration
|
1
|
0
|
|
Maffucci syndrome
|
|
0
|
0
|
|
Major affective disorder 1; MAFD1
|
Bipolar affective disorder |
Manic depressive-psychosis
|
5
|
0
|
|
Major affective disorder 2; MAFD2
|
Bipolar affective disorder
|
1
|
0
|
|
Major depressive disorder; MDD
|
|
4
|
1
|
|
Male infertility with normal virilization due to meiosis defect
|
|
1
|
0
|
|
Malignant hyperthermia, susceptibility to, 5
|
Malignant hyperthermia
|
1
|
0
|
|
Malignant hyperthermia, susceptibility to, 1; MHS1
|
Malignant hyperthermia
|
1
|
0
|
|
Malignant mesothelioma
|
|
1
|
0
|
|
Malignant migrating partial seizures of infancy
|
|
1
|
0
|
|
Mantle cell lymphoma
|
|
3
|
3
|
|
Mast cell disease
|
Maculopapular cutaneous mastocytosis |
Typical urticaria pigmentosa |
Urticaria pigmentosa
|
1
|
0
|
|
Mastocytosis
|
|
1
|
4
|
|
Maternal hyperphenylalaninemia
|
|
1
|
0
|
|
Maturity-onset diabetes of the young; MODY
|
|
2
|
0
|
|
Maturity-onset diabetes of the young, type 11; MODY11
|
Maturity-onset diabetes of the young |
MODY
|
1
|
0
|
|
Maturity-onset diabetes of the young, type 1; MODY1
|
Maturity-onset diabetes of the young |
MODY
|
1
|
0
|
|
Maturity-onset diabetes of the young, type 2; MODY2
|
Maturity-onset diabetes of the young |
MODY
|
1
|
0
|
|
Meconium ileus
|
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
|
1
|
0
|
|
Medulloblastoma
|
|
2
|
0
|
|
Megalencephaly-capillary malformation-polymicrogyria syndrome
|
|
1
|
0
|
|
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1
|
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
|
1
|
0
|
|
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2
|
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
|
1
|
0
|
|
Megaloblastic anemia due to dihydrofolate reductase deficiency
|
Constitutional megaloblastic anemia with severe neurologic disease
|
1
|
0
|
|
Melanocytic nevus syndrome, congenital; CMNS
|
Congenital melanocytic nevus |
Large congenital melanocytic nevus
|
1
|
0
|
|
Melanoma
|
|
1
|
0
|
|
Melanoma, cutaneous malignant, susceptibility to, 1; CMM1
|
|
1
|
0
|
|
Melanoma, cutaneous malignant, susceptibility to, 3; CMM3
|
Familial melanoma
|
1
|
0
|
|
Melanoma, cutaneous malignant, susceptibility to, 5; CMM5
|
Familial melanoma
|
1
|
0
|
|
Melanoma, cutaneous malignant, susceptibility to, 8; CMM8
|
|
1
|
0
|
|
Melanosis, neurocutaneous; NCMS
|
|
1
|
0
|
|
Melioidosis, susceptibility to
|
|
1
|
0
|
|
Membranous nephropathy, susceptibility to; MBNP
|
|
1
|
0
|
|
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
|
X-linked intellectual disability, Najm type
|
1
|
0
|
|
Mental retardation, autosomal dominant 16; MRD16
|
Autosomal dominant non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, autosomal dominant 30; MRD30
|
|
1
|
0
|
|
Mental retardation, autosomal dominant 6; MRD6
|
Autosomal dominant non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, autosomal dominant 7; MRD7
|
Autosomal dominant non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, autosomal dominant 8; MRD8
|
Autosomal dominant non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, autosomal recessive, 6; MRT6
|
Autosomal recessive non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, hearing impairment, cranial malformations, hyperactivity
|
|
1
|
0
|
|
Mental retardation, language delay, hyperactivity, aggression, hearing impairment, cranial malformation, seizures
|
|
1
|
0
|
|
Mental retardation syndrome, X-linked, Siderius type
|
X-linked intellectual disability, Siderius type
|
1
|
0
|
|
Mental retardation, X-linked 19; MRX19
|
Non-specific X-linked mental retardation |
X-linked non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, X-linked 30; MRX30
|
Non-specific X-linked mental retardation |
X-linked non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, X-linked 88; MRX88
|
Non-specific X-linked mental retardation |
X-linked non-syndromic intellectual disability
|
1
|
0
|
|
Mental retardation, X-linked, syndromic, Claes-Jensen type
|
Syndromic X-linked intellectual disability due to JARID1C mutation
|
0
|
0
|
|
Mental retardation, X-linked, syndromic, Wu type; MRXSW
|
X-linked intellectual disability due to GRIA3 anomalies
|
1
|
0
|
|
Metabolic syndrome
|
Metabolic syndrome X
|
2
|
0
|
|
Metaphyseal anadysplasia 2; MANDP2
|
Metaphyseal anadysplasia
|
1
|
0
|
|
Metaphyseal chondrodysplasia, Jansen type
|
Jansen's metaphyseal chondrodysplasia
|
1
|
0
|
|
Metastatic melanoma
|
|
1
|
0
|
|
Metatropic dysplasia
|
|
1
|
0
|
|
Mevalonic aciduria
|
|
1
|
0
|
|
Microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2
|
|
1
|
0
|
|
Microcephaly 12, primary, autosomal recessive; MCPH12
|
Autosomal recessive primary microcephaly
|
1
|
0
|
|
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR
|
Microcephaly - lymphedema - chorioretinopathy
|
1
|
0
|
|
Microphthalmia, syndromic 12; MCOPS12
|
Matthew-Wood syndrome
|
1
|
0
|
|
Microvascular complications of diabetes, susceptibility to, 1; MVCD1
|
|
0
|
0
|
|
Microvascular complications of diabetes, susceptibility to, 3; MVCD3
|
|
1
|
0
|
|
Migraine, familial hemiplegic, 1; FHM1
|
Familial hemiplegic migraine |
Familial or sporadic hemiplegic migraine
|
1
|
0
|
|
Migraine, familial hemiplegic, 3; FHM3
|
Familial hemiplegic migraine |
Familial or sporadic hemiplegic migraine
|
1
|
0
|
|
Migraine, with or without aura, susceptibility to, 13
|
|
1
|
0
|
|
Mild hemophilia A
|
Hemophilia A; HEMA
|
1
|
0
|
|
Mild hemophilia B
|
Hemophilia B; HEMB
|
1
|
0
|
|
Mild hyperphenylalaninemia
|
|
1
|
0
|
|
Mild phenylketonuria
|
Phenylketonuria
|
1
|
0
|
|
Minicore myopathy with external ophthalmoplegia
|
Congenital multicore myopathy with external ophthalmoplegia
|
1
|
0
|
|
Minimally differentiated acute myeloblastic leukemia
|
|
1
|
0
|
|
Minimal pigment oculocutaneous albinism type 1
|
|
1
|
0
|
|
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
|
1
|
0
|
|
Mitochondrial neurogastrointestinal encephalomyopathy
|
Mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
|
1
|
0
|
|
Mitochondrial pyruvate carrier deficiency
|
Familial atrial fibrillation
|
1
|
0
|
|
Moderately severe hemophilia A
|
Hemophilia A; HEMA
|
1
|
0
|
|
Moderately severe hemophilia B
|
Hemophilia B; HEMB
|
1
|
0
|
|
Mosaic variegated aneuploidy syndrome
|
|
1
|
0
|
|
Mosaic variegated aneuploidy syndrome 1; MVA1
|
Mosaic variegated aneuploidy syndrome
|
1
|
0
|
|
Muckle-Wells syndrome
|
CAPS2 |
cryopyrin-associated periodic syndrome 2 |
MWS |
urticaria-deafness-amyloidosis syndrome
|
1
|
2
|
|
Mucolipidosis IV
|
|
1
|
0
|
|
Mucopolysaccharidosis type IVA
|
|
1
|
0
|
|
Muenke syndrome
|
|
1
|
0
|
|
Multicentric Castleman disease
|
Multicentric giant lymph node hyperplasia
|
0
|
1
|
|
Multicentric osteolysis, nodulosis, and arthropathy
|
Nodulosis-arthropathy-osteolysis syndrome
|
2
|
0
|
|
Multiple endocrine neoplasia IIA
|
Multiple endocrine neoplasia
|
1
|
0
|
|
Multiple endocrine neoplasia IIB
|
Multiple endocrine neoplasia
|
1
|
0
|
|
Multiple myeloma
|
plasma cell myeloma
|
1
|
4
|
|
Multiple pterygium syndrome, escobar variant; EVMPS
|
Autosomal recessive multiple pterygium syndrome |
Autosomal recessive non-lethal multiple pterygium |
Escobar syndrome
|
1
|
0
|
|
Multiple pterygium syndrome, lethal type; LMPS
|
Lethal multiple pterygium syndrome
|
3
|
0
|
|
Multiple sclerosis
|
|
10
|
6
|
|
Multiple self-healing squamous epithelioma, susceptibility to; MSSE
|
Multiple keratoacanthoma, Ferguson-Smith type
|
1
|
0
|
|
Muscular dystrophy, limb-girdle, type 2
|
|
1
|
0
|
|
Myasthenia gravis
|
|
1
|
4
|
|
Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C
|
Congenital myasthenic syndrome |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 16; CMS16
|
Congenital myasthenic syndrome |
Myasthenic syndrome, congenital, acetazolamide-responsive |
Postsynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Myasthenic syndrome, congenital, 6, presynaptic; CMS6
|
Congenital myasthenic syndrome |
Presynaptic congenital myasthenic syndromes
|
1
|
0
|
|
Mycobacterium tuberculosis, susceptibility to
|
|
3
|
0
|
|
Mycosis fungoides
|
Alibert-Bazin syndrome |
granuloma fungoides
|
0
|
1
|
|
Myelodysplastic syndrome
|
|
0
|
2
|
|
Myelofibrosis
|
Myelofibrosis with myeloid metaplasia
|
3
|
2
|
|
Myeloid neoplasm associated with FGFR1 rearrangement
|
|
1
|
0
|
|
Myeloid neoplasm associated with PDGFRA rearrangement
|
|
1
|
0
|
|
Myeloid neoplasm associated with PDGFRB rearrangement
|
|
1
|
0
|
|
Myeloma, multiple
|
|
1
|
0
|
|
Myelomeningocele
|
|
1
|
0
|
|
Myeloperoxidase deficiency; MPOD
|
|
1
|
0
|
|
Myeloproliferative disorder, chronic, with eosinophilia
|
Unclassified chronic myeloproliferative disease
|
1
|
0
|
|
myocarditis
|
|
1
|
0
|
|
Myoclonic-astastic epilepsy
|
|
1
|
0
|
|
Myoclonic dystonia
|
|
1
|
0
|
