| Diseases |
Alias |
|
| Hyperprolinemia, Type I |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
HYRPRO1
|
Hpi
|
|
Hyperprolinemia Type I
|
Hyperprolinemia 1
|
|
Proline Dehydrogenase Deficiency
|
|
|
| Schizophrenia 4 |
|
SCZD4
|
Schizophrenia, Susceptibility To, 4
|
|
Schizophrenia Susceptibility Locus, Chromosome 22q11-Related
|
Schizophrenia Susceptibility Locus Chromosome 22-Related
|
|
Schizophrenia, Type 4
|
|
|
| Hyperprolinemia |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
Proline Hydrogenase Deficiency
|
Prolinemia
|
|
Pyrroline Carboxylate Dehydrogenase Deficiency
|
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Proline Dehydrogenase Deficiency
|
Hyperprolinemia Type 2
|
|
|
| Schizoaffective Disorder |
|
Schizo-Affective Psychosis
|
Schizo-Affective Type Schizophrenia
|
|
Schizoaffective Psychosis
|
Schizoaffective Schizophrenia
|
|
Schizophrenia, Schizo-Affective Type
|
Schizophreniform Psychosis, Affective Type
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Specific Developmental Disorder |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia Type 2
|
HYRPRO2
|
|
Hpii
|
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia Type Ii
|
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Type 2 Hyperprolinemia
|
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia 2
|
|
|
| Digeorge Syndrome |
|
Chromosome 22q11.2 Deletion Syndrome
|
DGS
|
|
Hypoplasia Of Thymus And Parathyroids
|
Third And Fourth Pharyngeal Pouch Syndrome
|
|
22q11.2 Deletion Syndrome
|
Digeorge Sequence
|
|
Digeorge'S Syndrome
|
Pharyngeal Pouch Syndrome
|
|
Di-George Syndrome
|
Shprintzen Syndrome
|
|
|
| Bipolar Disorder |
|
Bipolar Depression
|
Manic Disorder
|
|
Depression, Bipolar
|
Bipolar Disorder Manic Phase
|
|
Depressive-Manic Psych.
|
Manic Bipolar Affective Disorder
|
|
Manic Bipolar I Disorder
|
Manic Depression
|
|
Manic Depressive Disorder
|
Mixed Bipolar Disorder
|
|
Bipolar Affective Disorder
|
Bipolar Affective Psychosis
|
|
Bipolar Spectrum Disorder
|
Manic Depressive Illness
|
|
Depression Bipolar
|
Bipolar Disorder, Mixed
|
|
Major Affective Disorder
|
Major Affective Disorder 1
|
|
Major Affective Disorder 2
|
|
|
| Phobic Disorder |
|
Phobic Disorders
|
Phobic Anxiety Disorder
|
|
|
| Histidine Metabolism Disease |
|
Disturbances Of Histidine Metabolism
|
Disorder Of Histidine Metabolism
|
|
Disturbance Of Histidine Metabolism
|
|
|
| Prolidase Deficiency |
|
Hyperimidodipeptiduria
|
Imidodipeptidase Deficiency
|
|
Peptidase Deficiency
|
PD
|
|
Deficiency Of Prolidase
|
Imidodipeptiduria
|
|
Proline Dipeptidase Deficiency
|
|
|
| Bipolar I Disorder |
|
Manic Depression Nos
|
Manic-Depressive Illness
|
|
Bipolar Disorder Nos
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Schizophrenia 15 |
|
SCZD15
|
Schizophrenia 15 With Or Without An Affective Disorder
|
|
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related
|
Schizophrenia Susceptibility Locus Chromosome 22q13-Related
|
|
Schizophrenia, Type 15
|
|
|
| Substance-Induced Psychosis |
|
|
| Schizophrenia 18 |
|
SCZD18
|
Schizophrenia 18 With Or Without An Affective Disorder
|
|
Schizophrenia Susceptibility 18
|
Chromosome 7q36.3 Duplication Syndrome, 362-Kb
|
|
Schizophrenia, Type 18
|
|
|
| Hyperlysinemia, Type I |
|
Hyperlysinemia
|
Lysine Intolerance
|
|
Alpha-Aminoadipic Semialdehyde Synthase Deficiency
|
Lysine:Alpha-Ketoglutarate Reductase Deficiency
|
|
L-Lysine:Nad-Oxido-Reductase Deficiency
|
Lysine Alpha-Ketoglutarate Reductase Deficiency
|
|
Alpha-Aminoadipic Semialdehyde Deficiency Disease
|
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
|
|
Saccharopinuria
|
Hyperlysinemia Type I
|
|
Hyperlysinemias
|
L-Lysine Nad-Oxido-Reductase Deficiency
|
|
Familial Hyperlysinemia
|
Saccharopine Dehydrogenase Deficiency Disease
|
|
Hyperlysinemia, 1
|
HYPLYS1
|
|
Saccharopine Dehydrogenase Deficiency
|
|
|
| Delusional Disorder |
|
Persistent Delusional Disorders
|
Delusional Perception
|
|
Induced Delusional Disorder
|
|
|
| Conjunctival Folliculosis |
|
Acute Follicular Conjunctivitis
|
|
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| Thyroid Dyshormonogenesis 6 |
|
TDH6
|
Genetic Defect In Thyroid Hormonogenesis 6
|
|
Thyroid Hormonogenesis, Genetic Defect In, 6
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6
|
|
Chdh6
|
Congenital Hypothyroidism Due To Dyshormonogenesis Type 6
|
|
|
| Disease Of Mental Health |
|
Mental Health
|
Mental Disorders
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Anterograde Amnesia |
|
|
| Drug Psychosis |
|
Drug-Induced Psychosis
|
Drug-Induced Psychotic Disorder
|
|
Psychoses, Substance-Induced
|
Psychoses, Drug
|
|
|
| Drug-Induced Mental Disorder |
|
|
| Pyrimidine Metabolic Disorder |
|
Disorder Of Pyrimidine Metabolism
|
Pyrimidine Metabolism Disorder
|
|
|
| Capgras Syndrome |
|
|
| Brain Glioblastoma Multiforme |
|
Brain Glioblastoma
|
Glioblastoma Multiforme Of Brain
|
|
Glioblastoma Nos
|
|
|
| Multiple Personality Disorder |
|
Dissociative Identity Disorder
|
Multiple Personality
|
|
|
| Pseudomembranous Conjunctivitis |
|
|
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Cednik Syndrome
|
CEDNIK
|
|
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome
|
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
|
|
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome
|
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
|
|
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma
|
Neurocutaneous Syndromes
|
|
|
| Schizophrenia 3 |
|
SCZD3
|
Schizophrenia Susceptibility Locus, Chromosome 6-Related
|
|
Schizophrenia 3 With Or Without An Affective Disorder
|
|
|
| Schizophreniform Disorder |
|
Schizophreniform Disorders
|
Psychotic Disorders
|
|
|
| Mitochondrial Pyruvate Carrier Deficiency |
|
|
| Heimler Syndrome 2 |
|
HMLR2
|
Peroxisome Biogenesis Disorder 4c
|
|
Pbd4c
|
Peroxisomal Biogenesis Disorder 4c
|
|
Heimler Syndrome, Type 2
|
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
Chromosome 22q11.2 Microduplication Syndrome
|
22q11.2 Microduplication Syndrome
|
|
22q11.2 Duplication Syndrome
|
Duplication 22q11.2
|
|
Trisomy 22q11.2
|
22q11.2 Duplication
|
|
Dup(22)(Q11)
|
|
|
| Chromosome 6q24-Q25 Deletion Syndrome |
|
Chromosome 6q25-Q25 Deletion Syndrome
|
6q25 Microdeletion Syndrome
|
|
Monosomy 6q25
|
Del(6)(Q25)
|
|
|
| Physical Disorder |
|
|
| Dicarboxylic Aminoaciduria |
|
Glutamate-Aspartate Transport Defect
|
Dicarboxylicaminoaciduria
|
|
DCBXA
|
Renal Aminoacidurias
|
|
|
| Heparin Cofactor Ii Deficiency |
|
Thrombophilia Due To Heparin Cofactor Ii Deficiency
|
THPH10
|
|
Hcf Ii Deficiency
|
Hcf2 Deficiency
|
|
Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency
|
Hcf 2 Deficiency
|
|
Thrombophilia Due To Heparin Cofactor 2 Deficiency
|
Thrombophilia, Due To Heparin Cofactor Ii Deficiency
|
|
|
| Histidinemia |
|
Histidine Ammonia-Lyase Deficiency
|
Hal Deficiency
|
|
Histidase Deficiency
|
His Deficiency
|
|
Histidinuria
|
Hyperhistidinemia
|
|
HISTID
|
Histidinuria Renal Tubular Defect
|
|
|
| Postaxial Acrofacial Dysostosis |
|
Miller Syndrome
|
POADS
|
|
Genee-Wiedemann Syndrome
|
Postaxial Acrodysostosis
|
|
Genee-Wiedemann Acrofacial Dysostosis
|
Acrofacial Dysostosis, Genee-Wiedmann Type
|
|
Mandibulfacial Dysostosis With Postaxial Limb Anomalies
|
Gwafd
|
|
Poads Syndrome
|
Postaxial Acrofacial Dysostosis Syndrome
|
|
Wildervanck-Smith Syndrome
|
Acrofacial Dysostosis, Genee-Wiedemann Type
|
|
Mandibulofacial Dysostosis With Postaxial Limb Anomalies
|
Genée-Wiedemann Syndrome
|
|
Chromosome 11p Deletion Syndrome
|
|
|
| Schizotypal Personality Disorder |
|
|
| Phobia, Specific |
|
Specific Phobia
|
Simple Phobia
|
|
Phobia, Simple
|
Isolated Phobia
|
|
|
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Nezelof Syndrome
|
T-Lymphocyte Deficiency
|
|
TIDTA
|
Immune Defect Due To Absence Of Thymus
|
|
Thymic Aplasia
|
Nezelof'S Syndrome
|
|
Thymic Dysplasia With Normal Immunoglobulins
|
Thymic Aplasia Syndrome
|
|
T-Lymphocyte Immunodeficiency
|
|
|
| Schizophrenia 2 |
|
SCZD2
|
Schizophrenia Susceptibility Locus, Chromosome 11q-Related
|
|
Schizophrenia Susceptibility Locus Chromosome 11q-Related
|
|
|
| Anthracosis |
|
Black Lung
|
Coal Workers' Pneumoconiosis
|
|
Melanoedema
|
Black Lung Disease
|
|
Pneumoconiosis
|
Coal Miner'S Pneumoconiosis
|
|
Coal Workers' Lung
|
Coal Worker'S Pneumoconiosis
|
|
Coal Workers Pneumoconiosis
|
Coal Miners' Lung
|
|
Coal Miners' Pneumoconiosis
|
Coal Pneumoconiosis
|
|
Colliers' Anthracosis
|
Colliers' Lung
|
|
Lung Melanosis
|
Miners' Asthma
|
|
Miners' Lung
|
Pneumomelanosis
|
|
Cwp - [Coalworkers Pneumoconiosis]
|
Fibrosis Of Lung With Anthracosilicosis
|
|
Lung Fibrosis With Anthracosis
|
Miners' Pneumoconiosis
|
|
Carbon Lung
|
Coalworker Lung
|
|
Collier'S Asthma
|
Anthracosilicosis
|
|
Lung Anthracosis
|
|
|
| Dyscalculia |
|
Disorder Of Arithmetical Skills
|
Mathematics Disorder
|
|
Developmental Arithmetic Disorder
|
|
|
| Schizoid Personality Disorder |
|
|
| Entropion |
|
|
| Deafness, Autosomal Recessive 1a |
|
DFNB1A
|
Deafness, Digenic, Gjb2/Gjb3
|
|
Autosomal Recessive Nonsyndromic Deafness 1a
|
Deafness, Digenic, Gjb2/Gjb6
|
|
Deafness, Digenic Gjb2/Gjb6
|
Autosomal Recessive Deafness 1a
|
|
Deafness, Autosomal Recessive, 1a
|
Deafness Digenic Gjb2/Gjb3
|
|
Deafness Digenic Gjb2/Gjb6
|
Deafness Neurosensory Autosomal Recessive 1
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
|
|
Nsrd1
|
Deafness, Autosomal Recessive, Type 1a
|
|
|
| Atrial Septal Defect 9 |
|
ASD9
|
Atrial Heart Septal Defect 9
|
|
Septal Defect, Atrial, Type 9
|
|
|
| Van Den Ende-Gupta Syndrome |
|
VDEGS
|
Blepharophimosis, Arachnodactyly, And Congenital Contractures
|
|
Marden-Walker-Like Syndrome
|
Marden-Walker-Like Syndrome Without Psychomotor Retardation
|
|
Marden Walker Like Syndrome
|
Marden-Walker-Like Syndrome Without Psychmotor Retardation
|
|
Van Den Ende Gupta Syndrome
|
Marden Walker Like Syndrome Without Psychomotor Retardation
|
|
Blepharophimosis Arachnodactyly And Congenital Contractures
|
|
|
| Bone Structure Disease |
|
|
| Paranoid Schizophrenia |
|
Chronic Paranoid Schizophrenia
|
Paranoid Type Schizophrenia
|
|
Paranoid Type Schizophrenia Subchronic State
|
Paraphrenia - Late
|
|
Paraphrenic Schizophrenia
|
Schizophrenia, Paranoid
|
|
|
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
45,X/46,Xy Mgd
|
45,X0/46,Xy Mgd
|
|
45,X0/46,Xy Mixed Gonadal Dysgenesis
|
|
|
| Inherited Metabolic Disorder |
|
Inborn Errors Of Metabolism
|
Inborn Metabolic Disorder
|
|
Inborn Metabolism Disorder
|
Metabolic Hereditary Disorder
|
|
Inborn Error Of Metabolism
|
Metabolism, Inborn Errors
|
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Severe X-Linked Mitochondrial Encephalomyopathy
|
COXPD6
|
|
Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6
|
Mitochondrial Encephalomyopathy Due To Coxpd6
|
|
Encephalomyopathy, Mitochondrial, X-Linked
|
Encephalomyopathy Mitochondrial X-Linked
|
|
Oxidative Phosphorylation Deficiency, Combined, Type 6
|
|
|
| Mental Depression |
|
Depression
|
Depressive Disorder
|
|
|
| Learning Disability |
|
Learning Disabilities
|
Learning Disorders
|
|
Academic Skill Disorder
|
Learning Disorder
|
|
|
| Speech And Communication Disorders |
|
Language Disorder
|
Communication Disorder
|
|
Language Disorders
|
Communication Disorders
|
|
Speech Language Disorder
|
Speech-Language Disorder
|
|
Communication Impairment
|
Speech And Language Disorder
|
|
|
| Heart Septal Defect |
|
Septal Defect
|
Heart Septal Defects
|
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Waisman Syndrome |
|
Early-Onset Parkinsonism-Intellectual Disability Syndrome
|
Bgmr
|
|
Wsn
|
Laxova-Opitz Syndrome
|
|
WSMN
|
Parkinsonism, Early-Onset, With Mental Retardation
|
|
Basal Ganglion Disorder With Mental Retardation
|
Basal Ganglia Disorder With Intellectual Disability
|
|
Laxova Brown Hogan Syndrome
|
X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
|
|
|
| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
|
Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
|
Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
|
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
|
Biot
|
Carboxylase Deficiency, Multiple, Late-Onset
|
|
Late-Onset Mcd
|
Mcd Juvenile Form
|
|
Biotin Deficiency Disease
|
|
|
| Oculogyric Crisis |
|
|
| Orotic Aciduria |
|
Hereditary Orotic Aciduria
|
Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
|
|
Uridine Monophosphate Synthase Deficiency
|
Umps Deficiency
|
|
Uridine Monophosphate Synthetase Deficiency
|
Orotic Aciduria I
|
|
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency
|
Oprt And Odc Deficiency
|
|
Ump Synthase Deficiency
|
Orotic Aciduria Ii
|
|
Oroticaciduria 1
|
Orotic Aciduria Hereditary
|
|
Orotic Aciduria Type 1
|
Hereditary Orotic Aciduria Without Megaloblastic Anemia
|
|
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency
|
Ump Synthtase Deficiency
|
|
Umps
|
Orotidylic Decarboxylase Deficiency
|
|
Orotic Aciduria 1
|
ORAC1
|
|
Aciduria, Orotic
|
Hereditary Orotic Aciduria, Type 1
|
|
Orotic Aciduria Nos
|
Orotaciduric Anaemia
|
|
Orotic Aciduria Anaemia
|
Orotic Aciduria Megaloblastic Anaemia
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Familial Thyroid Dyshormonogenesis |
|
Thyroid Dyshormonogenesis
|
Familial Dyshormonogenetic Goiter
|
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
|
Oat Deficiency
|
Okt Deficiency
|
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
| Cannabis Abuse |
|
|
| Tricuspid Atresia |
|
Congenital Agenesis Of The Tricuspid Valve
|
|
|
| Urea Cycle Disorder |
|
Urea Cycle Disorders
|
Urea Cycle Disorders, Inborn
|
|
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Disorder Of Urea Cycle Metabolism
|
|
Urea Cycle Defect
|
Ucd
|
|
Disorder Of The Urea Cycle Metabolism
|
Disorder Of Urea Cycle
|
|
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Ammonia Metabolic Disorder
|
|
|
| Argininosuccinic Aciduria |
|
Argininosuccinate Lyase Deficiency
|
Asl Deficiency
|
|
Argininosuccinic Acid Lyase Deficiency
|
Argininosuccinase Deficiency
|
|
Argininosuccinic Acidemia
|
Arginosuccinase Deficiency
|
|
Asa Deficiency
|
Argininosuccinicaciduria
|
|
Asauria
|
Deficiency Of Argininosuccinate Lyase
|
|
Asld
|
Arginino Succinase Deficiency
|
|
Argininosuccinate Acidemia
|
Inborn Error Of Urea Synthesis, Arginino Succinic Type
|
|
Urea Cycle Disorder, Arginino Succinase Type
|
Argininosuccinyl-Coa Lyase Deficiency
|
|
Asa
|
Argininosuccinatelyase Deficiency
|
|
ARGINSA
|
Aciduria Argininosuccinic
|
|
Citrullinemia
|
Argininosuccinic Acidaemia
|
|
Metabolic Disorder Of Arginosuccinic Acid
|
|
|
| Parasitic Protozoa Infectious Disease |
|
Protozoan Infections
|
Mastigophora Infectious Disease
|
|
Sarcomastigophora Infectious Disease
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Secondary Progressive Multiple Sclerosis |
|
Secondary-Progressive Ms
|
Spms
|
|
Multiple Sclerosis, Chronic Progressive
|
Chronic Progressive Multiple Sclerosis
|
|
Multiple Sclerosis, Secondary Progressive
|
|
|
| Xanthinuria |
|
Xanthine Dehydrogenase Deficiency
|
Xanthine Oxidase Deficiency
|
|
Hereditary Xanthinuria
|
Xanthic Urolithiasis
|
|
Xanthine Stone Disease
|
Xanthinuria, Type I
|
|
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase
|
Xdh Deficiency
|
|
Classic Xanthinuria
|
Xanthinuria, Type Ii
|
|
Classical Xanthinuria
|
Xanthine Calculus
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Dihydropyrimidinase Deficiency |
|
Dihydropyrimidinuria
|
Dpys Deficiency
|
|
Dph Deficiency
|
DPYSD
|
|
Dihydrouracil Amidohydrolase Deficiency
|
Dihydropyrimidinuria Due To Dpys Deficiency
|
|
|
| Babesiosis |
|
Babesiasis
|
Infection By Babesia
|
|
Piroplasmosis
|
Human Babesiosis
|
|
Babesia Parasite Infection
|
Piroplasma Infection
|
|
|
| Sleeping Sickness |
|
African Trypanosomiasis
|
African Sleeping Sickness
|
|
Trypanosomiasis, Human East-African
|
Trypanosomiasis, East African
|
|
Trypanosomiasis African
|
Trypanosomiasis, African
|
|
Human African Trypanosomiasis
|
|
|
| Alkaptonuria |
|
Homogentisic Acid Oxidase Deficiency
|
Alcaptonuria
|
|
AKU
|
Deficiency Of Homogentisicase
|
|
Homogentisate 1,2-Dioxygenase Deficiency
|
Alkaptonuric Ochronosis
|
|
Homogentisic Acidura
|
Ochronosis, Hereditary
|
|
Hereditary Ochronosis
|
Ochronosis
|
|
Homogentisicaciduria
|
Deficiency Of Homogentisate Oxygenase
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Iminoglycinuria |
|
Iminoglycinuria, Digenic
|
IG
|
|
|
| Dysthymic Disorder |
|
Dysthymia
|
Chronic Depressive Disorder
|
|
Chronic Depression
|
Depressive Personality
|
|
Depressive Personality Disorder
|
Persistent Depressive Disorder
|
|
Persistent Depression
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Social Phobia |
|
Phobia, Social
|
Phobia Social
|
|
Phobic Anxiety Disorder
|
|
|
| Reye Syndrome |
|
Reye'S Syndrome
|
Rasmussen Encephalitis
|
|
Fatty Liver With Encephalopathy
|
Rasmussen'S Encephalitis
|
|
Re
|
Rs
|
|
Rasmussen Syndrome
|
Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome
|
|
Reye Encephalopathy
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Atrophic Muscular Disease |
|
Muscular Disorders, Atrophic
|
|
|
| Cataract 8, Multiple Types |
|
Ccv
|
Cataract, Congenital, Volkmann Type
|
|
CTRCT8
|
Cataract 8 Multiple Types
|
|
Cataract Congenital Volkmann Type
|
Cutaneous Collagenous Vasculopathy
|
|
|
| Brody Disease |
|
Brody Myopathy
|
BROD
|
|
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency
|
Myopathy, Brody
|
|
|
| Generalized Anxiety Disorder |
|
|
| Strongyloidiasis |
|
Disseminated Strongyloidiasis
|
Anguilluliasis
|
|
Anguillulosis
|
Infection By Strongyloides
|
|
Threadworm Infection
|
Enterobiasis
|
|
|
| Vitamin D-Dependent Rickets |
|
|
| Anxiety |
|
Anxiety Disorder
|
Anxiety Disorders
|
|
Anxiety State
|
Anxieties
|
|
Anxiety Neurosis
|
|
|
| Lysinuric Protein Intolerance |
|
LPI
|
Dibasic Amino Aciduria Ii
|
|
Hyperdibasic Aminoaciduria
|
Dibasic Aminoaciduria 2
|
|
Dibasicamino Aciduria Ii
|
Congenital Lysinuria
|
|
Lpi - Lysinuric Protein Intolerance
|
|
|
| Orofacial Cleft |
|
|
| Glutathione Synthetase Deficiency |
|
5-Oxoprolinuria
|
Pyroglutamic Aciduria
|
|
Pyroglutamicaciduria
|
Glutathione Synthetase Deficiency With 5-Oxoprolinuria
|
|
GSSD
|
Oxoprolinase Deficiency
|
|
5-Oxoprolinemia
|
Deficiency Of Glutathione Synthase
|
|
Deficiency Of Glutathione Synthetase
|
Pyroglutamic Acidemia
|
|
GSS DEFICIENCY
|
Gluthathione Synthetase Deficiency
|
|
5-Oxoprolinase Deficiency
|
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Scad Deficiency
|
Acads Deficiency
|
|
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency
|
Scadh Deficiency
|
|
Short-Chain Acyl-Coa Dehydrogenase Deficiency
|
Deficiency Of Butyryl-Coa Dehydrogenase
|
|
Short Chain Acyl-Coa Dehydrogenase Deficiency
|
ACADSD
|
|
Scadd
|
Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
|
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of
|
Acyl-Coa Dehydrogenase Short-Chain Deficiency
|
|
|
| Speech Disorder |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
MADD
|
Ethylmalonic-Adipicaciduria
|
|
Ema
|
Glutaric Acidemia Iia
|
|
Glutaric Acidemia Iib
|
Ga Ii
|
|
Glutaric Acidemia Iic
|
Glutaric Acidemia Type 2
|
|
Glutaric Acidemia Ii
|
Glutaric Aciduria Ii
|
|
Electron Transfer Flavoprotein Deficiency
|
Glutaric Aciduria Type 2
|
|
Mad Deficiency
|
Glutaric Acidemia Type Ii
|
|
Glutaric Aciduria 2
|
Etfa Deficiency
|
|
Etfb Deficiency
|
Etfdh Deficiency
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Ga2
|
|
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
|
Electron Transfer Flavoprotein Dehydrogenase Deficiency
|
|
Ga 2
|
Glutaric Acidemia 2
|
|
Glutaric Acidemia, Type 2
|
Glutaric Aciduria, Type 2
|
|
Mad
|
Multiple Fad Dehydrogenase Deficiency
|
|
Ethylmalonic Adipic Aciduria
|
Glutaricaciduria Ii
|
|
Glutaric Aciduria 2a
|
GA2A
|
|
Gaiia
|
Glutaricaciduria Iia
|
|
Glutaric Aciduria 2b
|
GA2B
|
|
Gaiib
|
Glutaricaciduria Iib
|
|
Glutaric Aciduria 2c
|
GA2C
|
|
Gaiic
|
Glutaricaciduria Iic
|
|
Glutaricaciduria, Type Iia
|
Glutaric Acidemia Type 2a
|
|
Glutaric Acidemia Type 2c
|
Glutaric Aciduria Iia
|
|
Glutaric Aciduria Iib
|
Glutaric Aciduria Iic
|
|
|
| T Cell Deficiency |
|
T Cell Immunodeficiency
|
T Lymphocyte Deficiency
|
|
T Lymphocyte Immunodeficiency
|
T-Lymphocyte Deficiency
|
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Tomaculous Neuropathy
|
Hereditary Neuropathy With Liability To Pressure Palsies
|
|
HNPP
|
Polyneuropathy, Familial Recurrent
|
|
Neuropathy, Recurrent, With Pressure Palsies
|
Current Pressure-Sensitive Neuropathy
|
|
Familial Recurrent Polyneuropathy
|
Heterozygous Microdeletion 17p11.2p12
|
|
Potato-Grubbing Palsy
|
Tulip-Bulb Digger'S Palsy
|
|
Compression Neuropathy
|
Entrapment Neuropathy
|
|
Familial Pressure Sensitive Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
|
Hereditary Pressure Sensitive Neuropathy
|
Inherited Tendency To Pressure Palsies
|
|
Hereditary Liability To Pressure Palsies
|
Nerve Compression Syndrome
|
|
Entrapment Neuropathies
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Multiple Carboxylase Deficiency |
|
Mcd
|
Holocarboxylase Synthetase Deficiency
|
|
|
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
|
Chronic Inflammatory Demyelinating Polyneuropathy
|
Cidp
|
|
Polyradiculoneuropathy Chronic Inflammatory Demyelinating
|
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Potocki-Lupski Syndrome |
|
PTLS
|
Chromosome 17p11.2 Duplication Syndrome
|
|
17p11.2 Microduplication Syndrome
|
Duplication 17p11.2 Syndrome
|
|
Trisomy 17p11.2
|
Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
|
|
17p11.2 Duplication Syndrome
|
Dup(17)(P11.2p11.2)
|
|
Pls
|
Chromosome 17, Trisomy 17p11 2
|
|
|
| Amme Complex |
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
|
ATS-MR
|
|
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
|
Chromosome Xq22.3 Telomeric Deletion Syndrome
|
|
Amme Syndrome
|
Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
|
|
|
| Carbohydrate Metabolic Disorder |
|
Inborn Errors Of Carbohydrate Metabolism
|
Disorder Of Carbohydrate Metabolism
|
|
Carbohydrate Metabolism, Inborn Errors
|
Disorder Of Carbohydrate Transport And Metabolism
|
|
Inborn Carbohydrate Metabolism Disorder
|
Inborn Carbohydrate Metabolic Disorder
|
|
Carbohydrate Metabolism Disorder
|
Carbohydrate Metabolism Disorders
|
|
Disorders Of Carbohydrate Metabolism
|
Congenital Disorders Of Carbohydrate Metabolism
|
|
Inherited Disorders Of Carbohydrate Metabolism
|
|
|
| Mood Disorder |
|
Mood Disorders
|
Episodic Mood Disorder
|
|
|
| Substance Abuse |
|
Substance-Related Disorders
|
Substance Abuse Problem
|
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
G6pd Deficiency
|
Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Deficiency Of Glucose-6-Phosphate Dehydrogenase
|
Glucose 6 Phosphate Dehydrogenase Deficiency
|
|
Deficiency Of G-6pd
|
G6pdd
|
|
|
| Citrullinemia, Classic |
|
Citrullinemia
|
Classic Citrullinemia
|
|
Argininosuccinate Synthetase Deficiency
|
Ass Deficiency
|
|
Citrullinemia Type I
|
CTLN1
|
|
Citrullinuria
|
Citrullinemia, Type I
|
|
Argininosuccinic Acid Synthetase Deficiency
|
Ctnl1
|
|
Citrullinemia 1
|
Deficiency Of Citrulline-Aspartate Ligase
|
|
Cit
|
Argininosuccinate Synthase Deficiency
|
|
Argininosuccinic Acid Synthase Deficiency
|
Citrullinemia Type 1
|
|
Citrullinemia Classical
|
|
|
| Bernard-Soulier Syndrome |
|
Giant Platelet Syndrome
|
BSS
|
|
Von Willebrand Factor Receptor Deficiency
|
Bdplt1
|
|
Platelet Glycoprotein Ib Deficiency
|
Bernard-Soulier Syndrome, Type A1
|
|
Bernard-Soulier Syndrome, Type B
|
Bernard Soulier Syndrome
|
|
Deficiency Of Platelet Glycoprotein 1b
|
Hemorrhagiparous Thrombocytic Dystrophy
|
|
Bernard-Soulier Syndrome Type C
|
Bleeding Disorder, Platelet-Type, 1
|
|
Glycoprotein Ib, Platelet, Deficiency Of
|
Giant Platelet Disorder, Isolated
|
|
Giant Platelet Disease
|
Macrothrombocytopenia, Familial Bernard-Soulier Type
|
|
Bernard-Soulier Syndrome, Type C
|
Bernard - Soulier Thrombopathy
|
|
Hemorrhagic Dystrophic Thrombocytopenia
|
Thrombopathy, Bernard-Soulier
|
|
Platelet Glycoprotein 1b, Deficiency Of
|
Hemorrhagioparous Thrombocytic Dystrophy
|
|
Bernard-Soulier Syndrome Type A1
|
Bernard-Soulier Syndrome Type B
|
|
Bleeding Disorder Platelet-Type 1
|
Gpd
|
|
Macrothrombocytopenia, Familial, Bernard-Soulier Type
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Central Nervous System Disease |
|
Cns Disorder
|
CNS
|
|
Cns Diseases
|
Central Nervous System Diseases
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Integumentary System Disease |
|
|
| Phelan-Mcdermid Syndrome |
|
Chromosome 22q13.3 Deletion Syndrome
|
22q13.3 Deletion Syndrome
|
|
Telomeric 22q13 Monosomy Syndrome
|
PHMDS
|
|
Deletion 22q13 Syndrome
|
22q13.3 Deletion
|
|
Deletion 22q13.3 Syndrome
|
Monosomy 22q13
|
|
Monosomy 22q13.3
|
22q13 Deletion Syndrome
|
|
Monosomy 22q13 Syndrome
|
22q13 Deletion
|
|
Chromosome Deletion
|
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Hermansky-Pudlak Syndrome 1 |
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
HPS1
|
|
Delta Storage Pool Disease
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
|
Hermansky-Pudlak Syndrome, Type 1
|
Platelet Storage Pool Deficiency
|
|
|
| Sensory System Disease |
|
|
| Disease By Infectious Agent |
|
Infectious Disease
|
Infectious Diseases
|
|
|
| Acquired Metabolic Disease |
|
|
| Perinatal Necrotizing Enterocolitis |
|
Necrotizing Enterocolitis
|
Enterocolitis Necrotizing
|
|
Enterocolitis, Necrotizing
|
Necrotizing Enterocolitis In Fetus Or Newborn
|
|
Perinatal Necrotising Enterocolitis
|
Pseudomembranous Enterocolitis In Newborn
|
|
Nec
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Holt-Oram Syndrome |
|
HOS
|
Atriodigital Dysplasia
|
|
Heart-Hand Syndrome
|
Atrio-Digital Syndrome
|
|
Cardiac-Limb Syndrome
|
Heart-Hand Syndrome, Type 1
|
|
Ventriculo-Radial Syndrome
|
Hos1
|
|
Heart Hand Syndrome
|
Atrio Digital Syndrome
|
|
Hos 1
|
Atriodigital Dysplasia Type 1
|
|
Heart-Hand Syndrome Type 1
|
Holt Oram Syndrome
|
|
|
| Stereotypic Movement Disorder |
|
Stereotypy Habit Disorder
|
Stereotyped Repetitive Movements
|
|
Stereotyped Disorder
|
Stereotypes Nos
|
|
Stereotype Habit Disorder
|
|
|
| Trypanosomiasis |
|
|
| Ventricular Septal Defect |
|
Ventricular Septal Defects
|
Interventricular Septal Defect
|
|
Heart Septal Defects, Ventricular
|
Ventricular Septal Abnormality
|
|
Interventricular Septum Defect
|
Ventricular Septum Defect
|
|
Vsd - [Ventricular Septum Defect]
|
Congenital Ventricular Septal Defect
|
|
Single Ventricular Septal Defect
|
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Vlcad Deficiency
|
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Lcad Deficiency
|
|
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
ACADVLD
|
Acadl Deficiency
|
|
Vlcadd
|
Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadvl
|
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
|
|
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency
|
Vlcad-C
|
|
Vlcad-H
|
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
|
|
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency
|
Acyl-Coa Dehydrogenase Long-Chain Deficiency
|
|
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase
|
Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
|
|
|
| Cystinuria |
|
CSNU
|
Cystinuria Type B
|
|
Cystinuria Type A
|
Cystinuria, Type I, Formerly
|
|
Csnu1, Formerly
|
Cystinuria, Type Ii, Formerly
|
|
Cystinuria, Type Iii, Formerly
|
Csnu3, Formerly
|
|
Cystinuria, Type Non-I, Formerly
|
Cystinuria-Lysinuria
|
|
Cystinuria-Lysinuria Syndrome
|
Csnu1
|
|
Csnu3
|
Cystinuria 1
|
|
Cystinuria Type A/B
|
Cystinuria Type I
|
|
Cystinuria Type Ii
|
Cystinuria Type Iii
|
|
Cystinuria Type Non-I
|
Cystinuria, Type A/B
|
|
Cystinuria Type 1
|
Cystinuria - Lysinuria
|
|
Csnu - [Cystinuria]
|
Cystine Disease
|
|
|
| Cutis Laxa |
|
Generalized Elastolysis
|
Loose Skin
|
|
Dermatolysis
|
Dermatomegaly
|
|
Cutis Laxa Syndrome
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Agoraphobia |
|
Fear Of Open Spaces
|
Phobia Of Going Out
|
|
|
| Phenylketonuria |
|
Phenylalanine Hydroxylase Deficiency
|
PKU
|
|
Pah Deficiency
|
Folling Disease
|
|
Maternal Phenylketonuria
|
Phenylketonurias
|
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
|
Folling'S Disease
|
Phenylalaninemia
|
|
Mild Phenylketonuria
|
Mild Pku
|
|
Variant Pku
|
Variant Phenylketonuria
|
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
|
Hyperphenylalaninemia
|
HPA
|
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| Retinitis Pigmentosa 11 |
|
RP11
|
Retinitis Pigmentosa-11
|
|
Retinitis Pigmentosa, Type 11
|
|
|
| Supravalvular Aortic Stenosis |
|
SVAS
|
Supravalvar Aortic Stenosis
|
|
Supravalvar Aortic Stenosis, Eisenberg Type
|
Aortic Supravalvular Stenosis
|
|
Aortic Stenosis, Supravalvular
|
Supra-Valvular Aortic Stenosis
|
|
Stenosis, Aortic Supravalvular
|
Stenosis, Supravalvular Aortic
|
|
Supravalvular Stenosis, Aortic
|
Aortic Stenosis Supravalvular
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
MERRF
|
|
Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
|
|
Myoencephalopathy Ragged-Red Fiber Disease
|
Myoclonic Epilepsy - Ragged Red Fibers
|
|
Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
|
Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
|
Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
|
Myoclonus With Epilepsy With Ragged Red Fibers
|
|
|
| Glucose Metabolism Disease |
|
Glucose Metabolism Disorders
|
Disorder Of Glucose Metabolism
|
|
|
| Primary Bacterial Infectious Disease |
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Parathyroid Gland Disease |
|
Parathyroid Diseases
|
Disease Of Parathyroid Glands
|
|
Parathyroid Disease
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Polymicrogyria |
|
|
| Urinary System Disease |
|
Abnormality Of The Urinary System
|
Non-Neoplastic Urinary Tract Disease
|
|
Urinary Tract Disease
|
Urinary Tract Diseases
|
|
Urinary Tract Anomaly
|
Urologic Diseases
|
|
Non-Neoplastic Urinary System Disorder
|
Congenital Malformation Of The Urinary System
|
|
|
| Autoimmune Disease Of Central Nervous System |
|
|
| Tic Disorder |
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| Immune System Disease |
|
Abnormality Of The Immune System
|
Immune System And Disorders
|
|
Immune System Diseases
|
|
|
| Thoracic Cancer |
|
Thoracic Tumor
|
Thorax Cancer
|
|
Thorax Neoplasm
|
Tumor Of Thorax
|
|
Thoracic Neoplasms
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Polyhydramnios |
|
|
| Muscular Disease |
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Overnutrition |
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Toxic Encephalopathy |
|
Neurotoxicity
|
Neurotoxicity Syndromes
|
|
Neurotoxicity Syndrome
|
Encephalopathy, Toxic
|
|
|
| Blood Coagulation Disease |
|
Blood Coagulation Disorders
|
Coagulation Protein Disease
|
|
Inherited Blood Coagulation Disease
|
Postpartum Coagulation Defect
|
|
Postpartum Coagulation Defect With Delivery
|
Coagulation Protein Disorders
|
|
Puerperal Coagulopathy
|
|
|
| Demyelinating Disease |
|
Demyelinating Diseases
|
Demyelinating Disorder
|
|
|
| Alcohol Use Disorder |
|
Alcohol Abuse
|
Alcoholism
|
|
Ethanol Abuse
|
Alcohol Addiction
|
|
Alcohol Dependence
|
Alcoholic Intoxication, Chronic
|
|
Alcohol-Related Disorders
|
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Placenta Disease |
|
Placenta Diseases
|
Placenta Disorder
|
|
Pregnancy Complications
|
Placenta Disorders
|
|
|
| Autonomic Nervous System Neoplasm |
|
Tumor Of Autonomic Nervous System
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
| Germ Cell Cancer |
|
Malignant Germ Cell Tumor
|
Neoplasms, Germ Cell And Embryonal
|
|
Germ Cell Neoplasm
|
Germ Cell Tumour
|
|
Malignant Tumor Of The Germ Cell
|
Neoplasms Germ Cell
|
|
Malignant Germ Cell Neoplasm
|
|
|
| Male Reproductive System Disease |
|
Genital Diseases, Male
|
Disorder Of Male Reproductive System
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Respiratory System Disease |
|
Abnormality Of The Respiratory System
|
Respiration Disorders
|
|
Respiratory Tract Diseases
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Eye Degenerative Disease |
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Peripheral Nervous System Neoplasm |
|
Peripheral Nervous System Neoplasms
|
Nerve Sheath Neoplasm
|
|
Neoplasm Of Peripheral Nerve
|
Tumor Of Pns
|
|
Nerve Sheath Neoplasms
|
Nerve Sheath Tumors
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
|
Sne
|
Leigh'S Disease
|
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
|
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
|
Subacute Necrotizing Encephalomyelopathy
|
Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
|
Infantile Necrotizing Encephalomyelopathy
|
|
Juvenile Subacute Necrotizing Encephalomyelopathy
|
Leigh'S Necrotizing Encephalopathy
|
|
Subacute Necrotizing Encephalopathy
|
Juvenile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
Encephalopathy, Subacute Necrotizing, Juvenile
|
|
Maternally Inherited Leigh Syndrome
|
Subacute Necrotising Encephalomyelopathy
|
|
Subacute Necrotising Encephalopathy
|
|
|
| Cardiovascular System Disease |
|
Abnormality Of The Cardiovascular System
|
Cardiovascular Disease
|
|
Disease Of Subdivision Of Hemolymphoid System
|
Disorder Of Cardiovascular System
|
|
Cardiovascular Diseases
|
|
|
| Blood Platelet Disease |
|
Platelet Disorder
|
Blood Platelet Disorders
|
|
Thrombocytopathy
|
Platelet Dysfunction
|
|
Platelet Disorders
|
Qualitative Platelet Deficiency
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
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Acute Myeloid Leukaemia With Myelodysplasia-Related Features
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|
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| Amyotrophic Lateral Sclerosis 1 |
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Amyotrophic Lateral Sclerosis
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ALS
|
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Lou Gehrig Disease
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Amyotrophic Lateral Sclerosis Type 1
|
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Charcot Disease
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ALS1
|
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Amyotrophic Lateral Sclerosis, Susceptibility To
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Fals
|
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Lou Gehrig'S Disease
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Mnd
|
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Motor Neuron Disease
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Familial Amyotrophic Lateral Sclerosis
|
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Amyotrophic Lateral Sclerosis 1, Familial
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Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
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Motor Neuron Disease, Bulbar
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Motor Neurone Disease
|
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Amyotrophic Lateral Sclerosis With Dementia
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Dementia With Amyotrophic Lateral Sclerosis
|
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis
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Sclerosis, Lateral, Amyotrophic
|
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Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
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Als - [Amyotrophic Lateral Sclerosis]
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Wasting Palsy
|
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Amyotrophic Paralysis
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Amyotrophy Lateral Sclerosis
|
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Wasting Paralysis
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Spinal Progressive Amyotrophy
|
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Progressive Atrophic Paralysis
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|
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| Connective Tissue Disease |
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Connective Tissue Diseases
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Connective Tissue Disorder
|
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Abnormality Of Connective Tissue
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Disorder Of Connective Tissue
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Connective Tissue Disorders
|
|
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| Huntington Disease |
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Huntington'S Disease
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Huntington Chorea
|
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Huntington'S Chorea
|
HD
|
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Huntington Chronic Progressive Hereditary Chorea
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Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
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Chronic Progressive Hereditary Chorea
|
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Hc - [Huntington Chorea]
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Hereditary Chorea
|
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Progressive Hereditary Chorea
|
|
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| Prader-Willi Syndrome |
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Prader-Labhart-Willi Syndrome
|
PWS
|
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Willi-Prader Syndrome
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Prader-Willi Syndrome Due To Translocation
|
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Prader-Willi Syndrome Due To Imprinting Mutation
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Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
|
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Prader Willi Syndrome
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Upd(15)Mat
|
|
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| Leukodystrophy |
|
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| Leukemia, Acute Lymphoblastic |
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Acute Lymphoblastic Leukemia
|
ALL
|
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Acute Lymphocytic Leukemia
|
Leukemia, Acute Lymphocytic, Susceptibility To, 1
|
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Acute Lymphoblastic Leukaemia
|
Precursor Lymphoblastic Lymphoma/Leukemia
|
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Precursor Lymphoid Neoplasm
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Leukemia, Acute Lymphoblastic, Susceptibility To
|
|
B-Cell Acute Lymphoblastic Leukemia
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Leukemia, Acute Lymphocytic 1
|
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Acute Lymphocytic Leukaemia
|
Acute Lymphoblastic Leukemia/Lymphoma
|
|
All1
|
Childhood Acute Lymphoblastic Leukemia
|
|
Leukemia Acute Lymphoblastic 1
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Leukemia Acute Lymphoblastic B-Hyperdiploid
|
|
Leukemia Acute Lymphocytic
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Leukemia Acute Lymphocytic 1
|
|
Leukemia B-Cell Acute Lymphoblastic
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Leukemia T-Cell Acute Lymphoblastic
|
|
Leukemia, Acute Lymphoblastic, 3
|
ALL3
|
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Lymphoblastic Leukemia Acute
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Leukemia, Acute, Lymphoblastic
|
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
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Leukemia, Lymphocytic, Acute, L1
|
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Leukemia, Acute Lymphoblastic, Susceptibility To, 3
|
|
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| Body Mass Index Quantitative Trait Locus 11 |
|
OBESITY
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Obesity, Susceptibility To
|
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Leanness, Inherited
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Obesity, Susceptibility To, Bmiq11
|
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Obesity, Mild, Early-Onset
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Obesity, Association With
|
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Obesity, Early-Onset, Susceptibility To
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Obesity, Severe
|
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Obesity, Severe, And Type Ii Diabetes
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Obesity, Late-Onset
|
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Obesity , Susceptibility To
|
BMIQ11
|
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Obesity Bmiq11
|
Obesity, Early-Onset
|
|
Simple Obesity Nos
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Excess Fat
|
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Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
|
Adiposis
|
|
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| Parkinson Disease, Late-Onset |
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Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
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Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
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Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Type 2 Diabetes Mellitus |
|
Insulin Resistance
|
NIDDM
|
|
Type 2 Diabetes
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
T2D
|
Noninsulin-Dependent Diabetes Mellitus
|
|
Diabetes Mellitus, Type Ii
|
Maturity-Onset Diabetes
|
|
Insulin Resistance, Severe, Digenic
|
Diabetes Mellitus, Type 2
|
|
Diabetes Mellitus, Noninsulin-Dependent
|
Diabetes Mellitus, Noninsulin-Dependent, Association With
|
|
Diabetes Mellitus, Noninsulin-Dependent, Late Onset
|
Hypertension, Insulin Resistance-Related, Susceptibility To
|
|
Insulin Resistance, Susceptibility To
|
Non-Insulin-Dependent Diabetes Mellitus
|
|
Type Ii Diabetes Mellitus
|
Adult-Onset Diabetes Mellitus
|
|
Maturity-Onset Diabetes Mellitus
|
Diabetes Mellitus Type 2
|
|
Type Ii Diabetes
|
Type 2 Diabetes Mellitus, Susceptibility To
|
|
Diabetes, Type 2
|
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
|
|
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 2, Susceptibility To
|
|
Diabetes Mellitus, Noninsulin-Dependent, 2
|
Diabetes Mellitus, Type Ii, Susceptibility To
|
|
Hypertension, Insulin Resistance-Related
|
Adult-Onset Diabetes
|
|
Aodm
|
Diabetes Mellitus, Adult-Onset
|
|
Diabetes Mellitus Type Ii
|
Diabetes Mellitus Type 2, Susceptibility To
|
|
Diabetes, Type Ii, Susceptibility To
|
Diabetes Type 2
|
|
Diabetes Mellitus
|
Adult Onset Diabetes
|
|
Maturity Onset Diabetes
|
Nonketotic Diabetes
|
|
Non-Insulin Dependent Diabetes Mellitus
|
T2dm - [Type 2 Diabetes Mellitus]
|
|
Niddm - [Non Insulin Dependent Diabetes Mellitus]
|
Dm2
|
|
Dm Type Ii
|
Diabetic Type 2
|
|
Insulin Requiring Type 2 Diabetes
|
Noninsulin Dependent Diabetes
|
|
Non-Insulin-Dependent Diabetes Mellitus Without Complications
|
Diabetes Due To Insulin Secretory Defect
|
|
Diabetes Mellitus Due To Insulin Secretory Defect
|
Non-Insulin-Dependent Diabetes Of The Young
|
|
Senile Diabetes
|
Nonketotic Hyperglycaemia
|
|
Stable Diabetes
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
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