PRODH - proline dehydrogenase 1 Gene

Also Known as POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5625

About PRODH

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:18,912,781-18,936,553 (from NCBI)

This gene has 15 transcripts (splice variants), 261 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in small intestine (RPKM 24.9), skin (RPKM 13.7) and 11 other tissues.

Summary

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

PRODH Products (3)

mRNA	Protein	Name
NM_001195226.2	NP_001182155.2	proline dehydrogenase 1, mitochondrial isoform 2
NM_001368250.2	NP_001355179.2	proline dehydrogenase 1, mitochondrial isoform 2
NM_016335.6	NP_057419.5	proline dehydrogenase 1, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables FAD binding	IDA IDA: Inferred from direct assay	15662599	GOA
enables proline dehydrogenase activity	EXP EXP: Inferred from Experiment	15662599	GOA
enables proline dehydrogenase activity	IDA IDA: Inferred from direct assay	15662599	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	23743200	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRODH Protein Structure

Pro_dh

0
100
200
300
400
500
600 a.a.

Protein Preferred Names	Protein Names
proline dehydrogenase 1, mitochondrial	p53-induced gene 6 protein

Related Diseases

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	Amnesia, Anterograde
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	Capgras Delusion Theory
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	MPYCD
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	Physical Illness
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	Schizotypal Personality
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	Marijuana 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	Anxiety Generalized
Strongyloidiasis	Disseminated Strongyloidiasis Anguilluliasis Anguillulosis Infection By Strongyloides Threadworm Infection Enterobiasis
Vitamin D-Dependent Rickets	Vddr
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	Cleft, Orofacial
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	Speech Disorders
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	Mtdna Depletion Syndrome
Polymicrogyria	Pmg
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	Tics Behavioral Tic
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 Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Leukodystrophy	Leukodystrophies
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK 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] 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

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-142035	N-Propargylglycine		99.70%	Unkown
HY-W016887	Glycyl-L-proline	Inducer	99.88%	Unkown
HY-111095S2	D-(-)-Lactic acid-13C-1		/	Unkown
HY-RS11192	PRODH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11193	PRODH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21030	Prodh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27547	Prodh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PRODH	RGD	RGD:1590932
Mus musculus	PRODH	MGD	MGI:97770