Testing Criteria

Show alternative names & symbols

Testing criteria Disorders Genes Date
Ichthyosis, X-Linked
  • Ichthyosis, X-Linked
    • Arsc, S Form, Included
    • Arylsulfatase C, Isozyme S, Included
    • Placental Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency Disease
  • steroid sulfatase
    • ARSC, S form, included
    • arylsulfatase C, isozyme S, included
    • ichthyosis, X-linked
    • placental steroid sulfatase deficiency
    • steroid sulfatase (microsomal), arylsulfatase C, isozyme S
    • steroid sulfatase (microsomal), isozyme S
    • steroid sulfatase deficiency
    • steroid sulfatase deficiency disease
2011
Immune Deficiency Syndromes, Primary, 72 Gene Panel
  • Agammaglobulinemia, X-Linked
    • Agammaglobulinemia, X-Linked, Type 1
    • Bruton-Type Agammaglobulinemia
    • Immunodeficiency 1
  • Autoimmune Lymphoproliferative Syndrome
    • Autoimmune Lymphoproliferative Syndrome Tpye 1a
    • Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
    • Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive, Included
    • Autoimmune Lymphoproliferative Syndrome, Type Ia, Included
    • Autoimmune Lymphoproliferative Syndrome, Type Ib, Included
    • Canale-Smith Syndrome
  • Autoimmune Lymphoproliferative Syndrome, Type IIA
    • Autoimmune Lymphoproliferative Syndrome, Type II
  • Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
    • Autoimmune Polyendocrine Syndrome, Type
    • Autoimmune Polyendocrine Syndrome, Type I
    • Autoimmune Polyendocrinopathy Syndrome, Type I
    • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant, Included
    • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
    • Autoimmune Polyglandular Syndrome, Type I
    • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis
    • Polyglandular Autoimmune Syndrome, Type I
    • Polyglandular Deficiency Syndrome, Persian-Jewish Type, Included
  • Bare Lymphocyte Syndrome, Type I
    • BLS, Type I
    • HLA Class I Deficiency
  • Bare Lymphocyte Syndrome, Type II
    • Bare Lymphocyte Syndrome
    • BLS, Type II
    • SCID, HLA Class II-Negative
    • Severe Combined Immunodeficiency, Hla Class II-Negative
  • Cartilage-Hair Hypoplasia
    • Metaphyseal Chondrodysplasia, Mckusick Type
  • Caspase 8 Deficiency
    • Autoimmune Lymphoproliferative Syndrome, Type IIB
  • Chediak-Higashi Syndrome
  • Combined Immunodeficiency, X-Linked
    • Immunodeficiency 6
  • Diarrhea 2, With Microvillus Atrophy
    • Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
    • Davidson Disease
    • Intractable Diarrhea Of Infancy
    • Microvillus Atrophy, Congenital
    • Microvillus Inclusion Disease
  • Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
    • CGD Due To Deficiency Of The Alpha Subunit Of Cytochrome B
    • CGD, Autosomal Recessive Cytochrome B-Negative
    • CYBA Deficiency
  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
    • CGD, Autosomal Recessive Cytochrome B-Positive, Type I
    • Granulomatous Disease, Chronic, Due To NCF1 Deficiency
    • NCF1, Deficiency Of
    • Neutrophil Cytosol Factor 1, Deficiency Of
    • p47-PHOX, Deficiency Of
    • SOC2, Deficiency Of
    • Soluble Oxidase Component II, Deficiency Of
  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
    • CGD, Autosomal Recessive Cytochrome B-Positive, Type II
    • Granulomatous Disease, Chronic, Due To NCF2 Deficiency
    • NCF2, Deficiency Of
    • Neutrophil Cytosol Factor 2, Deficiency Of
    • p67-PHOX, Deficiency Of
  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type III
    • CGD, Autosomal Recessive Cytochrome B-Positive, TYPE III
    • Granulomatous Disease, Chronic, Due To NCF4 Deficiency
  • Granulomatous Disease, Chronic, X-Linked
    • Chronic Granulomatous Disease, X-Linked
    • Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked
  • Griscelli Syndrome, Type 2
    • Griscelli Syndrome With Hemophagocytic Syndrome
    • Paid Syndrome
    • Partial Albinism And Immunodeficiency Syndrome
  • Growth Hormone Insensitivity With Immunodeficiency
    • Growth Hormone Insensitivity Due To Postreceptor Defect
    • Laron Syndrome Due To Postreceptor Defect
  • Hemophagocytic Lymphohistiocytosis, Familial, 2
  • Hemophagocytic Lymphohistiocytosis, Familial, 3
  • Hemophagocytic Lymphohistiocytosis, Familial, 4
  • Hemophagocytic Lymphohistiocytosis, Familial, 5
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 4
  • Hermansky-Pudlak Syndrome 6
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
    • Hies, Autosomal Dominant
    • Hyper-IgE Syndrome, Autosomal Dominant
    • Job Syndrome
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
    • HIES, Autosomal Recessive
    • Hyper-IgE Syndrome, Autosomal Recessive
  • Immunodeficiency 25
    • Immunodeficiency Due To Defect In CD3-Zeta
  • Immunodeficiency 27a
    • Atypical Mycobacterial Infection, Disseminated
    • Atypical Mycobacterial Infection, Familial Disseminated
    • Atypical Mycobacteriosis, Familial
    • Mycobacterial Disease, Mendelian Susceptibility To
  • Immunodeficiency 31b
    • Immunodeficiency 31B, Mycobacterial And Viral Infections, Autosomal Recessive
    • STAT1 Deficiency, Autosomal Recessive
  • Immunodeficiency 48
    • Selective T-Cell Defect
  • Immunodeficiency 8
  • Immunodeficiency 9
    • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1
  • Immunodeficiency With Hyper-IgM, Type 1
    • Hyper-IgM Immunodeficiency, X-Linked
    • Hyper-IgM Syndrome
    • Hyper-IgM Syndrome 1
  • Immunodeficiency With Hyper-IgM, Type 2
    • Hyper-IgM Syndrome 2
  • Immunodeficiency With Hyper-IgM, Type 3
    • Hyper-IgM Syndrome 3
  • Immunodeficiency With Hyper-IgM, Type 5
    • Hyper-IgM Syndrome 5
  • Immunodeficiency, Common Variable, 1
    • Antibody Deficiency Due To ICOS Defect
  • Immunodeficiency, Common Variable, 2
    • Antibody Deficiency Due To TACI Defect
    • Hypogammaglobulinemia Due To Taci Deficiency
  • Immunodeficiency, Common Variable, 8, With Autoimmunity
  • Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
  • Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
    • Autoimmunity-Immunodeficiency Syndrome, X-Linked
    • Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
    • Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
    • Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
    • Iddm-Secretory Diarrhea Syndrome
    • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly
    • Islets Of Langerhans, Absence Of, Included
    • Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
    • X-Linked Autoimmunity-Allergic Dysregulation Syndrome
  • Immunoglobulin A Deficiency 2
    • IGA, Selective Deficiency Of, TACI-Related
    • Immunoglobulin A, Selective Deficiency Of, TACI-Related
  • Inflammatory Bowel Disease 25, Autosomal Recessive
    • Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
  • Inflammatory Bowel Disease 28, Autosomal Recessive
    • Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
  • Lymphoproliferative Syndrome 1
    • Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1
  • Lymphoproliferative Syndrome 2
    • CD27 Deficiency
  • Lymphoproliferative Syndrome, X-Linked, 1
    • Duncan Disease
    • Ebv Susceptibility
    • Epstein-Barr VIrus Infection, Familial Fatal
    • Immunodeficiency 5
    • Immunodeficiency, X-Linked Progressive Combined Variable
    • Infectious Mononucleosis, Susceptibility To
    • Lymphoproliferative Disease, X-Linked
    • Lymphoproliferative Syndrome, X-Linked
    • Lyp
    • Purtilo Syndrome
    • Xlp
  • Lymphoproliferative Syndrome, X-Linked, 2
    • XIAP Deficiency
  • Omenn Syndrome
    • Reticuloendotheliosis, Familial, With Eosinophilia
    • Severe Combined Immunodeficiency With Hypereosinophilia
  • Purine Nucleoside Phosphorylase Deficiency
    • Nucleoside Phosphorylase Deficiency
  • Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
    • NHEJ1 Syndrome
    • SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
    • Athabaskan Severe Combined Immunodeficiency, Included
    • Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation
    • Severe Combined Immunodeficiency, Athabaskan-Type, Included
    • Severe Combined Immunodeficiency, Partial, Included
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Negative, Due To Adenosine Deaminase Deficiency
    • SCID Due To ADA Deficiency
    • SCID Due To ADA Deficiency, Early-Onset
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
    • Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
    • SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive
    • SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
  • Severe Combined Immunodeficiency, X-Linked
    • Immunodeficiency 4
    • Scid, X-Linked
    • Scidx
    • Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
  • Wiskott-Aldrich Syndrome
    • Aldrich Syndrome
    • Eczema-Thrombocytopenia-Immunodeficiency Syndrome
    • Immunodeficiency 2
  • activation-induced cytidine deaminase
  • adenosine deaminase
    • adenosine aminohydrolase
  • autoimmune regulator
    • autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
  • Bruton tyrosine kinase
    • agammaglobulinemia tyrosine kinase
    • agammaglobulinemia, x-linked, included
    • agammaglobulinemia, x-linked, type i, included
    • b-cell progenitor kinase
    • bruton agammaglobulinemia tyrosine kinase
    • bruton type agammaglobulinemia, included
    • hypogammaglobulinemia, x-linked, included
    • immunodeficiency 1, included
  • caspase 10
    • caspase 10, apoptosis-related cysteine peptidase
    • caspase 10, apoptosis-related cysteine protease
  • caspase 8
    • caspase 8, apoptosis-related cysteine peptidase
    • caspase 8, apoptosis-related cysteine protease
  • CD247 molecule
    • CD247 antigen
    • CD3z antigen, zeta polypeptide (TiT3 complex)
  • CD27 molecule
    • tumor necrosis factor receptor superfamily, member 7
  • CD3d molecule
    • CD3d antigen, delta polypeptide (TiT3 complex)
    • CD3d molecule, delta (CD3-TCR complex)
  • CD3e molecule
    • CD3e antigen, epsilon polypeptide (TiT3 complex)
    • CD3e molecule, epsilon (CD3-TCR complex)
  • CD3g molecule
    • CD3 antigen, gamma subunit
    • CD3-gamma
    • CD3g antigen, gamma polypeptide (TiT3 complex)
    • CD3g molecule, gamma (CD3-TCR complex)
    • T-cell antigen receptor complex, gamma subunit of T3
  • CD40 ligand
    • CD154
    • CD40 antigen ligand
    • CD40 ligand (tnf superfamily, member 5, hyper-igm syndrome)
    • GP39
    • TNF-related activation protein
    • tumor necrosis factor (ligand) superfamily, member 5 (hyper-IGM syndrome)
    • tumor necrosis factor ligand superfamily, member 5
  • CD40 molecule
    • CD40 molecule, TNF receptor superfamily member 5
    • tumor necrosis factor receptor superfamily, member 5
  • class II, major histocompatibility complex, transactivator
    • MHC class II transactivator
  • coronin 1A
    • coronin, actin-binding protein, 1A
    • HCORO1
    • p57
  • cytochrome b-245 beta chain
    • chronic granulomatous disease
    • cytochrome b(558), beta subunit
    • cytochrome b-245, beta chain
    • cytochrome b-245, beta polypeptide
    • NADPH oxidase 2
  • cytochrome b-245, alpha chain
    • cytochrome b light chain
    • cytochrome b(558), alpha subunit
    • cytochrome b-245, alpha polypeptide
  • dedicator of cytokinesis 8
  • DNA cross-link repair 1C
    • DNA cross-link repair 1c (PSO2 homolog, s. cerevisiae)
  • DNA ligase 4
    • DNA ligase IV
    • ligase IV, DNA, ATP-dependent
  • Fas cell surface death receptor
    • apoptosis antigen 1
    • FAS antigen
    • FAS (TNF receptor superfamily, member 6)
    • surface antigen APO 1
    • tumor necrosis factor receptor superfamily, member 6
  • Fas ligand
    • Fas ligand (TNF superfamily, member 6)
    • tumor necrosis factor (ligand) superfamily, member 6
  • forkhead box P3
  • HPS1, biogenesis of lysosomal organelles complex 3, subunit 1
    • Hermansky-Pudlak syndrome
    • Hermansky-Pudlak syndrome 1
    • HPS1 gene
    • pale ear, mouse, homolog of
  • HPS4, biogenesis of lysosomal organelles complex 3, subunit 2
    • Hermansky-Pudlak syndrome 4
    • HPS4 gene
    • light ear, mouse, homolog of
  • HPS6, biogenesis of lysosomal organelles complex 2, subunit 3
    • Hermansky-Pudlak syndrome 6
    • HPS6 gene
    • ruby-eye, mouse, homolog of
  • IL2-inducible T-cell kinase
    • EMT
    • LYK
    • PSCTK2
  • inducible T-cell co-stimulator
    • activation-inducible lymphocyte immunomediatory molecule
    • inducible costimulator
  • inhibitor of nuclear factor kappa B kinase subunit gamma
    • IKK-gamma
    • incontinentia pigmenti
    • inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    • NF-KAPPA-B Essential Modulator
  • interleukin 10
    • cytokine synthesis inhibitory factor
  • interleukin 10 receptor subunit alpha
    • interleukin 10 receptor
    • interleukin 10 receptor, alpha
  • interleukin 10 receptor subunit beta
    • cytokine receptor family II, member 4
    • interleukin 10 receptor, beta
  • interleukin 2 receptor subunit gamma
    • interleukin 2 receptor, gamma
    • interleukin 2 receptor, gamma
    • severe combined immunodeficiency
  • interleukin 7 receptor
  • janus kinase 3
    • janus kinase 3
    • janus kinase, leukocyte
  • LPS-responsive beige-like anchor protein
    • CDC4-like protein
    • cell division cycle 4-like protein
    • LPS-responsive vesicle trafficking, beach and anchor containing
  • lysosomal trafficking regulator
    • Chediak-Higashi syndrome 1
  • magnesium transporter 1
  • myosin VB
    • KIAA1119
  • neutrophil cytosolic factor 1
    • neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)
  • neutrophil cytosolic factor 2
    • neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)
  • neutrophil cytosolic factor 4
    • neutrophil cytosolic factor 4 (40kD)
    • neutrophil cytosolic factor 4, 40kDa
  • non-homologous end joining factor 1
    • Cernunnos
    • FLJ12610
    • non-homologous end-joining factor 1
    • XLF
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • ORAI calcium release-activated calcium modulator 1
    • transmembrane protein 142A
  • perforin 1
    • perforin 1 (pore forming protein)
    • pore-forming protein
  • protein kinase DNA-activated, catalytic polypeptide
  • protein tyrosine phosphatase, receptor type C
    • GP180
    • LCA
    • T200
  • purine nucleoside phosphorylase
    • nucleoside phosphorylase
  • RAB27A, member RAS oncogene family
  • recombination activating 1
    • recombination activating gene 1
    • recombination-activating gene 1
  • recombination activating 2
    • recombination activating gene 2
    • recombination-activating gene 2
  • regulatory factor X-associated ankyrin-containing protein
  • regulatory factor X-associated protein
  • regulatory factor X5
    • regulatory factor X, 5 (influences HLA class II expression)
  • RNA component of mitochondrial RNA processing endoribonuclease
    • cartilage-hair hypoplasia
  • SH2 domain containing 1A
    • duncan disease
    • lymphoproliferative disease, X-linked
    • lymphoproliferative syndrome, x-linked
    • SH2 domain protein 1A
    • signaling lymphocyte activation molecule-associated protein
    • slam-associated protein
  • signal transducer and activator of transcription 1
    • signal transducer and activator of transcription 1, 91kDa
    • transcription factor isgf-3 components p91/p84
  • signal transducer and activator of transcription 3
    • acute-phase response factor
    • signal transducer and activator of transcription 3 (acute-phase response factor)
  • signal transducer and activator of transcription 5A
    • MGF
  • signal transducer and activator of transcription 5B
  • syntaxin 11
  • syntaxin binding protein 2
    • UNC18, c. elegans, homolog of, 2
  • TAP binding protein
    • TAP binding protein (tapasin)
  • TNF receptor superfamily member 13B
    • CD267
    • IGAD2
    • TACI
    • tumor necrosis factor receptor superfamily, member 13B
  • transporter 1, ATP-binding cassette, sub-family B member
    • transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
  • transporter 2, ATP-binding cassette, sub-family B member
    • transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
  • unc-13 homolog D
    • Munc13-4
    • unc-13 homolog D (C. elegans)
  • uracil-DNA glycosylase
  • Wiskott-Aldrich syndrome
    • was gene
    • was protein
    • Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
  • X-linked inhibitor of apoptosis
    • baculoviral IAP repeat-containing 4
    • IAP-like protein
    • mammalian IAP homolog A
    • X-linked inhibitor of apoptosis
  • zeta-chain of T cell receptor associated protein kinase 70
    • protein tyrosine kinase ZAP70
    • SYK-related tyrosine kinase
    • zeta-associated protein, 70-KD
    • zeta-chain (TCR) associated protein kinase (70 kD)
    • zeta-chain (TCR) associated protein kinase 70kDa
    • zeta-chain-associated protein kinase
2014
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
  • Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
    • Autoimmunity-Immunodeficiency Syndrome, X-Linked
    • Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
    • Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
    • Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
    • Iddm-Secretory Diarrhea Syndrome
    • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly
    • Islets Of Langerhans, Absence Of, Included
    • Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
    • X-Linked Autoimmunity-Allergic Dysregulation Syndrome
  • forkhead box P3
2008
Inborn Errors of Metabolism (Amino Acid Disorders) 43 Gene Panel
  • Alkaptonuria
  • Aromatic L-Amino Acid Decarboxylase Deficiency
  • Brunner Syndrome
  • Canavan Disease
    • Acy2 Deficiency
    • Aminoacylase 2 Deficiency
    • Asp Deficiency
    • Aspa Deficiency
    • Aspartoacylase Deficiency
    • Canavan-Van Bogaert-Bertrand Disease
    • Spongy Degeneration Of Central Nervous System
  • Cutis Laxa, Autosomal Recessive, Type IIIA
    • Cutis Laxa, Corneal Clouding, And Mental Retardation
    • De Barsy Syndrome A
    • Progeroid Syndrome Of De Barsy
  • Cystathioninuria
  • Cystinuria
  • D-2-Hydroxyglutaric Aciduria 1
  • Dopamine Beta-Hydroxylase Deficiency, Congenital
  • Dystonia, Dopa-Responsive
    • Dopa-Responsive Dystonia, Autosomal Dominant
    • Dystonia 5
    • Dystonia, Dopa-Responsive, Autosomal Dominant
    • Dystonia, Progressive, With Diurnal Variation
    • Dystonia-Parkinsonism With Diurnal Fluctuation
    • Segawa Syndrome, Autosomal Dominant
  • Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
    • Sepiapterin Reductase Deficiency
    • SPR Deficiency
  • Epilepsy, Pyridoxine-Dependent
    • AASA Dehydrogenase Deficiency
    • Pyridoxine Dependency With Seizures
    • Pyridoxine-Dependent Epilepsy
  • Epileptic Encephalopathy, Early Infantile, 3
  • GABA-Transaminase Deficiency
  • Generalized Epilepsy With Febrile Seizures Plus, Type 3
    • GEFS+, Type 3
  • Glutaric Acidemia I
    • Glutaricacidemia I
    • Glutaricaciduria I
    • Glutaryl-CoA Dehydrogenase Deficiency
  • Glycine Encephalopathy
    • Hyperglycinemia, Nonketotic
    • Hyperglycinemia, Transient Neonatal, Included
  • Glycine N-Methyltransferase Deficiency
  • Gyrate Atrophy Of Choroid And Retina
    • Gyrate Atrophy
    • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
    • OAT Deficiency
    • OKT Deficiency
    • Ornithine Aminotransferase Deficiency
    • Ornithine Keto Acid Aminotransferase Deficiency
    • Ornithine-Delta-Aminotransferase Deficiency
  • Hartnup Disorder
  • Hawkinsinuria
  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
    • Cbs Deficiency
    • Cystathionine Beta-Synthase Deficiency
    • Homocystinuria
    • Homocystinuria With Or Without Response To Pyridoxine
  • Hyperekplexia, Hereditary 1
    • Exaggerated Startle Reaction
    • KOK Disease
    • Startle Disease, Familial
    • Startle Reaction, Exaggerated
    • Stiff-Baby Syndrome
    • Stiff-Man Syndrome, Congenital
    • Stiff-Person Syndrome, Congenital
  • Hyperglycinuria
  • Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, A
    • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
    • Pts Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, B
    • GTP Cyclohydrolase I Deficiency
    • Guanosine Triphosphate Cyclohydrolase I Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP
  • Hyperphenylalaninemia, BH4-Deficient, C
    • Dhpr Deficiency
    • Dihydropteridine Reductase Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Dhpr Deficiency
    • Qdpr Deficiency
    • Quinoid Dihydropteridine Reductase Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, D
    • Cadh Deficiency|Pcbd Deficiency
    • Hyperphenylalaninemia With Primapterinuria
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
  • Iminoglycinuria
  • L-2-Hydroxyglutaric Aciduria
    • L-2-Hydroxyglutaric Acidemia
  • Lysinuric Protein Intolerance
    • Dibasic Amino Aciduria II
  • Methionine Adenosyltransferase I/III Deficiency
    • Hypermethioninemia, Isolated Persistent
    • Mat Deficiency
    • Mat I/III Deficiency
    • Methionine Adenosyltransferase Deficiency
  • N-Acetylaspartate Deficiency
  • Parkinsonism-Dystonia, Infantile
  • Phenylketonuria
    • Folling Disease
    • Hyperphenylalaninemia, Mild, Included
    • Oligophrenia Phenylpyruvica
    • Pah Deficiency
    • Phenylalanine Hydroxylase Deficiency
    • Phenylalanine Hydroxylase, Included
    • Phenylalaninemia, Included
    • Pku
    • Pku1, Included
  • Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
  • Segawa Syndrome, Autosomal Recessive
    • Dopa-Responsive Dystonia, Autosomal Recessive
    • Dystonia, Dopa-Responsive, Autosomal Recessive
    • Parkinsonism, Infantile, Autosomal Recessive
    • Tyrosine Hydroxylase Deficiency, Included
  • Succinic Semialdehyde Dehydrogenase Deficiency
    • 4-Hydroxybutyric Aciduria
    • Gaba Metabolic Defect
    • Gamma-Hydroxybutyric Aciduria
    • Ssadh Deficiency
  • Sulfocysteinuria
    • Sulfite Oxidase Deficiency
  • Tyrosinemia, Type I
    • Fah Deficiency
    • Fumarylacetoacetase Deficiency
    • Fumarylacetoacetase, Included
    • Fumarylacetoacetate Hydrolase, Included
    • Hepatorenal Tyrosinemia
    • Tyrosinaemia
  • Tyrosinemia, Type II
  • 4-aminobutyrate aminotransferase
  • 4-hydroxyphenylpyruvate dioxygenase
  • 6-pyruvoyltetrahydropterin synthase
  • adenosylhomocysteinase
  • aldehyde dehydrogenase 18 family, member A1
    • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
  • aldehyde dehydrogenase 5 family, member A1
  • aldehyde dehydrogenase 7 family, member A1
    • 26G turgor protein homolog
    • alpha aminoadipic semialdehyde dehydrogenase
    • alpha-AASA dehydrogenase
    • alpha-aminoadipic semialdehyde dehydrogenase
    • antiquitin 1
    • delta1-piperideine-6-carboxylate dehydrogenease
    • P6C dehydrogenase
  • aminomethyltransferase
    • aminomethyltransferase (glycine cleavage system protein t)
    • glycine cleavage system t protein
    • mitochondrial glycine cleavage enzyme subunit t
  • aspartoacylase
    • aminoacylase 2
    • aspartoacylase
    • aspartoacylase (aminoacylase 2, canavan disease)
  • cystathionine gamma-lyase
  • cystathionine-beta-synthase
    • 0
  • D-2-hydroxyglutarate dehydrogenase
  • dopa decarboxylase
  • dopamine beta-hydroxylase
    • dopamine beta-hydroxylase (dopamine beta-monooxygenase)
  • fumarylacetoacetate hydrolase
    • fumarylacetoacetase
    • fumarylacetoacetate hydrolase (fumarylacetoacetase)
  • gamma-aminobutyric acid type A receptor, gamma 2 subunit
    • GABA-A receptor, gamma-2 polypeptide
    • gamma-aminobutyric acid (GABA) A receptor, gamma 2
  • glutaryl-CoA dehydrogenase
    • glutaricaciduria i
    • glutaryl-coa dehydrogenase deficiency
    • glutaryl-coenzyme a dehydrogenase
  • glycine cleavage system protein H
    • glycine cleavage system protein H (aminomethyl carrier)
  • glycine decarboxylase
    • GCSPNKH
    • glycine cleavage system p protein
    • glycine dehydrogenase
    • glycine dehydrogenase (decarboxylating)
    • glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p)
    • mitochondrial glycine cleavage enzyme subunit p
  • glycine N-methyltransferase
  • glycine receptor, alpha 1
    • glycine receptor, alpha 1 (startle disease/hyperekplexia)
    • glycine receptor, alpha-1 subunit
  • GTP cyclohydrolase 1
    • dopa-responsive dystonia
    • gtp cyclohydrolase i
  • homogentisate 1,2-dioxygenase
  • L-2-hydroxyglutarate dehydrogenase
  • methionine adenosyltransferase 1A
  • monoamine oxidase A
  • N-acetyltransferase 8 like
  • ornithine aminotransferase
  • phenylalanine hydroxylase
    • folling disease
    • hyperphenylalaninemia, mild, included
    • oligophrenia phenylpyruvica
    • pah deficiency
    • phenylalanine hydroxylase deficiency
    • phenylalanine hydroxylase, included
    • phenylalaninemia, included
    • phenylketonuria
    • pku
    • pku1, included
  • pterin-4 alpha-carbinolamine dehydratase 1
  • pyridoxamine 5'-phosphate oxidase
  • quinoid dihydropteridine reductase
  • sepiapterin reductase
    • sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • solute carrier family 25 member 22
    • glutamate carrier 1
    • solute carrier family 25 (mitochondrial carrier: glutamate) member 22
  • solute carrier family 3 member 1
    • solute carrier family 3 (cystine, dibasic and neutral amino acid transporter) member 1
  • solute carrier family 36 member 2
    • tramdorin
  • solute carrier family 6 member 19
  • solute carrier family 6 member 3
  • solute carrier family 7 member 7
    • solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • solute carrier family 7 member 9
    • solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
  • sulfite oxidase
  • tyrosine aminotransferase
  • tyrosine hydroxylase
2015
Inborn Errors of Metabolism (Fatty Acid Oxidation/Ketogenesis Disorders) 20 Gene Panel
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • HL Deficiency
    • HMG-CoA Lyase Deficiency
    • HMGCL Deficiency
    • Hydroxymethylglutaric Aciduria
  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency
    • HMGCS2 Deficiency
    • Mitochondrial HMG-CoA Synthase Deficiency
  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • HADH Deficiency
    • SCHAD Deficiency, Formerly
  • Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
    • ACADM Deficiency
    • Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    • MCAD Deficiency
    • MCADH Deficiency
  • Acyl-CoA Dehydrogenase, Short-Chain, Deficiency Of
    • ACADS Deficiency
    • Lipid-Storage Myopathy Secondary To Short-Chain Acyl-CoA Dehydrogenase Deficiency
    • SCAD Deficiency
    • SCADH Deficiency
  • Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency Of
    • VLCAD Deficiency
  • Brown-Vialetto-Van Laere Syndrome 1
    • Bulbar Palsy, Progressive, With Sensorineural Deafness
    • Pontobulbar Palsy With Deafness
  • Brown-Vialetto-Van Laere Syndrome 2
  • Carnitine Deficiency, Systemic Primary
    • Carnitine Deficiency, Primary
    • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
    • Carnitine Transporter, Plasma-Membrane, Deficiency Of
    • Carnitine Uptake Defect
    • Systemic Carnitine Deficiency
  • Carnitine Palmitoyltransferase I Deficiency
    • Carnitine Palmitoyltransferase IA Deficiency
    • CPT Deficiency, Hepatic, Type I
    • CPT I Deficiency
  • Carnitine Palmitoyltransferase II Deficiency, Infantile
    • Carnitine Palmitoyltransferase II Deficiency With Hypoketotic Hypoglycemia
    • Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
    • CPT II Deficiency, Hepatic
    • CPT2 Deficiency, Infantile
  • Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Antenatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Neonatal
    • CPT II Deficiency, Lethal Neonatal
    • CPT2 Deficiency, Lethal Neonatal
  • Carnitine Palmitoyltransferase II Deficiency, Myopathic, Stress-Induced
    • Carnitine Palmitoyltransferase II Deficiency, Adult-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Late-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Myopathic
    • Cpt II Deficiency, Myopathic
    • Cpt2 Deficiency, Late-Onset
  • Carnitine-Acylcarnitine Translocase Deficiency
    • Cact Deficiency
    • Carnitine-Acylcarnitine Carrier
    • Carnitine-Acylcarnitine Translocase
  • Fazio-Londe Disease
    • Bulbar Palsy, Progressive, Of Childhood
  • Hyperinsulinemic Hypoglycemia, Familial, 4
  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • LCHAD Deficiency
  • Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency
    • ACAD9 Deficiency
    • Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of
  • Mitochondrial Trifunctional Protein Deficiency
    • Trifunctional Protein Deficiency
  • Multiple Acyl-CoA Dehydrogenase Deficiency
    • Ethylmalonic-Adipicaciduria
    • GA II
    • Glutaric Acidemia II
    • Glutaric Aciduria II
  • Riboflavin Deficiency
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2
    • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
  • 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • acyl-CoA dehydrogenase family, member 9
  • acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    • acyl-coa dehydrogenase, medium-chain
    • acyl-coenzyme a dehydrogenase, c-4 to c-12 straight chain
    • medium-chain acyl-coa dehydrogenase
  • acyl-CoA dehydrogenase, very long chain
    • acyl-Coenzyme A dehydrogenase, very long chain
  • carnitine palmitoyltransferase 1A
    • carnitine palmitoyltransferase 1A (liver)
  • carnitine palmitoyltransferase 1B
    • carnitine palmitoyltransferase 1B (muscle)
  • carnitine palmitoyltransferase 2
    • carnitine palmitoyltransferase II
  • electron transfer flavoprotein alpha subunit
    • electron-transfer-flavoprotein, alpha polypeptide
    • electron-transfer-flavoprotein, alpha subunit
  • electron-transfer-flavoprotein dehydrogenase
    • electron-transferring-flavoprotein dehydrogenase
  • electron-transfer-flavoprotein, beta subunit
    • electron-transfer-flavoprotein, beta polypeptide
  • hydroxyacyl-CoA dehydrogenase
    • hydroxyacyl-coenzyme a dehydrogenase
    • l-3-hydroxyacyl-coenzyme a dehydrogenase, short chain
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    • hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit
    • long-chain hydroxyacyl-coa dehydrogenase
    • mitochondrial trifunctional protein, alpha subunit
    • trifunctional protein, alpha subunit
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • solute carrier family 22 member 5
    • solute carrier family 22 (organic cation/carnitine transporter) member 5
  • solute carrier family 25 member 20
    • cact deficiency, included
    • carnitine-acylcarnitine carrier
    • carnitine-acylcarnitine translocase
    • carnitine-acylcarnitine translocase deficiency, included
    • solute carrier family 25 (carnitine/acylcarnitine translocase) member 20
  • solute carrier family 52 member 1
    • G protein-coupled receptor 172B
    • G protein-coupled receptor 42
    • PERV-A receptor 2
    • porcine endogenous retrovirus, subgroup A, receptor 2
    • riboflavin transporter 1
    • solute carrier family 52 (riboflavin transporter), member 1
    • solute carrier family 52, riboflavin transporter, member 1
  • solute carrier family 52 member 2
    • G protein-coupled receptor 172A
    • PERV-A receptor 1
    • porcine endogenous retrovirus, subgroup A, receptor 1
    • riboflavin transporter 3
    • solute carrier family 52 (riboflavin transporter), member 2
    • solute carrier family 52, riboflavin transporter, member 2
  • solute carrier family 52 member 3
    • chromosome 20 open reading frame 54
    • riboflavin transporter 2
    • solute carrier family 52 (riboflavin transporter), member 3
    • solute carrier family 52, riboflavin transporter, member 3
2015
Inborn Errors of Metabolism (Hyperammonia and Fatty Acid Oxidation) 38 Gene Panel
  • 2,4-Dienoyl-CoA Reductase Deficiency
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • HL Deficiency
    • HMG-CoA Lyase Deficiency
    • HMGCL Deficiency
    • Hydroxymethylglutaric Aciduria
  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency
    • HMGCS2 Deficiency
    • Mitochondrial HMG-CoA Synthase Deficiency
  • Acetyl-CoA Acetyltransferase-2 Deficiency
  • Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
    • ACADM Deficiency
    • Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    • MCAD Deficiency
    • MCADH Deficiency
  • Acyl-CoA Dehydrogenase, Short-Chain, Deficiency Of
    • ACADS Deficiency
    • Lipid-Storage Myopathy Secondary To Short-Chain Acyl-CoA Dehydrogenase Deficiency
    • SCAD Deficiency
    • SCADH Deficiency
  • Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency Of
    • VLCAD Deficiency
  • Alpha-Methylacetoacetic Aciduria
    • 2-Methyl-3-Hydroxybutyric Acidemia|Beta-Ketothiolase Deficiency
    • 3-Ketothiolase Deficiency
    • 3-KTD Deficiency
    • 3-Oxothiolase Deficiency
    • Mat Deficiency
    • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
    • T2 Deficiency
  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • Carnitine Deficiency, Systemic Primary
    • Carnitine Deficiency, Primary
    • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
    • Carnitine Transporter, Plasma-Membrane, Deficiency Of
    • Carnitine Uptake Defect
    • Systemic Carnitine Deficiency
  • Carnitine Palmitoyltransferase I Deficiency
    • Carnitine Palmitoyltransferase IA Deficiency
    • CPT Deficiency, Hepatic, Type I
    • CPT I Deficiency
  • Carnitine Palmitoyltransferase II Deficiency, Infantile
    • Carnitine Palmitoyltransferase II Deficiency With Hypoketotic Hypoglycemia
    • Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
    • CPT II Deficiency, Hepatic
    • CPT2 Deficiency, Infantile
  • Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Antenatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Neonatal
    • CPT II Deficiency, Lethal Neonatal
    • CPT2 Deficiency, Lethal Neonatal
  • Carnitine Palmitoyltransferase II Deficiency, Myopathic, Stress-Induced
    • Carnitine Palmitoyltransferase II Deficiency, Adult-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Late-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Myopathic
    • Cpt II Deficiency, Myopathic
    • Cpt2 Deficiency, Late-Onset
  • Carnitine-Acylcarnitine Translocase Deficiency
    • Cact Deficiency
    • Carnitine-Acylcarnitine Carrier
    • Carnitine-Acylcarnitine Translocase
  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • Citrullinemia, Type II, Adult-Onset
    • Citrin Deficiency
  • Citrullinemia, Type II, Neonatal-Onset
    • Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency
  • GABA-Transaminase Deficiency
  • Hyperinsulinemic Hypoglycemia, Familial, 6
    • Hyperinsulinism-Hyperammonemia Syndrome
  • Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    • HHH Syndrome
    • Ornithine Translocase Deficiency
  • Isovaleric Acidemia
    • Isovaleric Acid Coa Dehydrogenase Deficiency
    • IVD Deficiency
  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • LCHAD Deficiency
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria And Homocystinuria, cblD Type
    • Methylmalonic Acidemia And Homocystinuria, cblD Type
  • Methylmalonic Aciduria, cblA Type
    • Methylmalonic Acidemia, cblA Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblA Type
  • Methylmalonic Aciduria, cblB Type
    • Methylmalonic Acidemia, cblB Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblB Type
  • Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency
    • ACAD9 Deficiency
    • Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of
  • Mitochondrial Trifunctional Protein Deficiency
    • Trifunctional Protein Deficiency
  • Multiple Acyl-CoA Dehydrogenase Deficiency
    • Ethylmalonic-Adipicaciduria
    • GA II
    • Glutaric Acidemia II
    • Glutaric Aciduria II
  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • Propionic Acidaemia
    • Glycinemia, Ketotic
    • Hyperglycinemia With Ketoacidosis And Leukopenia
    • Ketotic Hyperglycinemia
    • PCC Deficiency
    • Propionyl-CoA Carboxylase Deficiency
  • Succinyl-CoA:3-Oxoacid-CoA Transferase Deficiency
    • Ketoacidosis Due To SCOT Deficiency
    • SCOT Deficiency
    • Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency
    • Succinyl-CoA:Acetoacetate Transferase Deficiency
  • 2,4-dienoyl-CoA reductase 1
    • 2,4-dienoyl-CoA reductase 1, mitochondrial
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2
    • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
  • 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • 3-oxoacid CoA transferase 1
  • 4-aminobutyrate aminotransferase
  • acetyl-CoA acetyltransferase 1
  • acetyl-CoA acetyltransferase 2
  • acyl-CoA dehydrogenase family, member 9
  • acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    • acyl-coa dehydrogenase, medium-chain
    • acyl-coenzyme a dehydrogenase, c-4 to c-12 straight chain
    • medium-chain acyl-coa dehydrogenase
  • acyl-CoA dehydrogenase, very long chain
    • acyl-Coenzyme A dehydrogenase, very long chain
  • adenosylhomocysteinase
  • arginase 1
    • arginase, liver
  • argininosuccinate lyase
    • argininosuccinase
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
  • carnitine palmitoyltransferase 1A
    • carnitine palmitoyltransferase 1A (liver)
  • carnitine palmitoyltransferase 2
    • carnitine palmitoyltransferase II
  • electron transfer flavoprotein alpha subunit
    • electron-transfer-flavoprotein, alpha polypeptide
    • electron-transfer-flavoprotein, alpha subunit
  • electron-transfer-flavoprotein dehydrogenase
    • electron-transferring-flavoprotein dehydrogenase
  • electron-transfer-flavoprotein, beta subunit
    • electron-transfer-flavoprotein, beta polypeptide
  • glutamate dehydrogenase 1
    • glud
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    • hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit
    • long-chain hydroxyacyl-coa dehydrogenase
    • mitochondrial trifunctional protein, alpha subunit
    • trifunctional protein, alpha subunit
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • isovaleryl-CoA dehydrogenase
  • methylmalonic aciduria (cobalamin deficiency) cblA type
    • methylmalonic aciduria (cobalamin deficiency) type A
    • MMAA gene
  • methylmalonic aciduria (cobalamin deficiency) cblB type
    • cob(i)alamin adenosyltransferase
    • methylmalonic aciduria (cobalamin deficiency) type B
    • MMAB gene
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonic aciduria and homocystinuria, cblD type
    • chromosome 2 open reading frame 25
    • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • MMADHC gene
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • N-acetylglutamate synthase
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
  • propionyl-CoA carboxylase, alpha subunit
    • pccA complementation group
    • propionyl Coenzyme A carboxylase, alpha polypeptide
  • propionyl-CoA carboxylase, beta subunit
    • propionyl Coenzyme A carboxylase, beta polypeptide
  • solute carrier family 22 member 5
    • solute carrier family 22 (organic cation/carnitine transporter) member 5
  • solute carrier family 25 member 13
    • citrin
    • mitochondrial aspartate glutamate carrier 2
    • solute carrier family 25 (aspartate/glutamate carrier) member 13
    • solute carrier family 25, member 13 (citrin)
  • solute carrier family 25 member 15
    • ornithine transporter, mitochondrial, 1
    • solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • solute carrier family 25 member 20
    • cact deficiency, included
    • carnitine-acylcarnitine carrier
    • carnitine-acylcarnitine translocase
    • carnitine-acylcarnitine translocase deficiency, included
    • solute carrier family 25 (carnitine/acylcarnitine translocase) member 20
2015
Inborn Errors of Metabolism (Lysosomal Storage Disorders) 50 Gene Panel
  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • HADH Deficiency
    • SCHAD Deficiency, Formerly
  • Aspartylglucosaminuria
    • Aga Deficiency|Glycoasparaginase
    • Aspartylglucosaminidase Deficiency
    • Aspartylglycosaminuria
    • Glycosylasparaginase Deficiency
  • Ceroid Lipofuscinosis, Neuronal, 1
    • Ceroid Lipofuscinosis, Neuronal 1, Infantile
    • Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset
    • Infantile Neuronal Ceroid Lipofuscinosis
    • Neuronal Ceroid Lipofuscinosis, Infantile Finnish Type
    • Santavuori Disease
    • Santavuori-Haltia Disease
  • Ceroid Lipofuscinosis, Neuronal, 10
  • Ceroid Lipofuscinosis, Neuronal, 2
    • Ceroid Lipofuscinosis, Neuronal 2, Late Infantile
    • Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
    • Jansky-Bielschowsky Disease
    • Ncl, Late Infantile
    • Neuronal Ceroid Lipofuscinosis, Late Infantile
  • Ceroid Lipofuscinosis, Neuronal, 3
    • Batten Disease
    • Ceroid Lipofuscinosis, Neuronal 3, Juvenile
    • Neuronal Ceroid Lipofuscinosis, Juvenile Type
    • Vogt-Spielmeyer Disease
  • Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
  • Ceroid Lipofuscinosis, Neuronal, 5
    • Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
    • Finnish Vlincl, Included
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Finnish Variant, Included
  • Ceroid Lipofuscinosis, Neuronal, 6
    • Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant, Included
    • Vlincl, Included
  • Ceroid Lipofuscinosis, Neuronal, 7
  • Ceroid Lipofuscinosis, Neuronal, 8
  • Combined Saposin Deficiency
  • Cystinosis, Adult Nonnephropathic
    • Cystinosis, Benign Nonnephropathic
    • Cystinosis, Ocular Nonnephropathic
  • Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
    • Cystinosis, Intermediate
  • Cystinosis, Nephropathic
    • Cystinosin, Defect Of
    • Cystinosis, Infantile Nephropathic, Included
    • Lysosomal Cystine Transport Protein, Defect Of
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Farber Lipogranulomatosis
    • Ac Deficiency
    • Acid Ceramidase Deficiency
    • Ceramidase Deficiency
    • Farber Disease
    • N-Laurylsphingosine Deacylase Deficiency
  • Fucosidosis
    • Alpha-L-Fucosidase Deficiency
  • Galactosialidosis
    • Cathepsin A Deficiency
    • Goldberg Syndrome
    • Lysosomal Protective Protein Deficiency
    • Neuraminidase Deficiency With Beta-Galactosidase Deficiency
    • Neuraminidase/Beta-Galactosidase Expression
    • PPCA Deficiency
    • Protective Protein/Cathepsin A Deficiency
  • Gaucher Disease, Atypical, Due To Saposin C Deficiency
  • Gaucher Disease, Perinatal Lethal
  • Glycogen Storage Disease II
    • Acid Alpha-Glucosidase Deficiency
    • Acid Maltase Deficiency
    • Alpha-1,4-Glucosidase Deficiency
    • Cardiomegalia Glycogenica Diffusa
    • Gaa Deficiency
    • Glycogenosis, Generalized, Cardiac Form
    • GSD II
    • Pompe Disease
  • GM1-Gangliosidosis, Type I
    • Beta-Galactosidase-1 Deficiency
    • Gangliosidosis, Generalized GM1, Infantile Form
    • Gangliosidosis, Generalized GM1, Type 1
    • Gangliosidosis, Generalized GM1, Type I
    • GLB1 Deficiency
  • GM1-Gangliosidosis, Type II
    • Gangliosidosis, Generalized GM1, Juvenile Type
    • Gangliosidosis, Generalized GM1, Type 2
    • Gangliosidosis, Generalized GM1, Type II
  • GM1-Gangliosidosis, Type III
    • Gangliosidosis, Generalized GM1, Adult Type
    • Gangliosidosis, Generalized GM1, Chronic Type
    • Gangliosidosis, Generalized GM1, Type 3
    • Gangliosidosis, Generalized GM1, Type III
  • GM2-Gangliosidosis, AB Variant
    • Ab Variant Gm2-Gangliosidosis
    • Gm2 Activator Deficiency
    • Hexosaminidase Activator Deficiency
    • Tay-Sachs Disease, Ab Variant
  • Hurler Syndrome
  • Hurler-Scheie Syndrome
    • Hurler Syndrome
    • Mucopolysaccharidosis Type Ih
    • Mucopolysaccharidosis Type Ih/s
    • Mucopolysaccharidosis Type Is
    • Scheie Syndrome
  • Infantile Sialic Acid Storage Disease
    • N-Acetylneuraminic Acid Storage Disease
    • Nana Storage Disease
    • Sialuria, Infantile Form
  • Kanzaki Disease
    • Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type II
    • Naga Deficiency, Type II
    • Schindler Disease, Type Ii
  • Krabbe Disease
    • Galactocerebrosidase Deficiency
    • Galactosylceramide Beta-Galactosidase Deficiency
    • Galc Deficiency
    • Globoid Cell Leukodystrophy
    • Globoid Cell Leukoencephalopathy
  • Lysosomal Acid Lipase Deficiency
    • Cholesterol Ester Hydrolase Deficiency
    • Cholesteryl Ester Storage Disease
    • LAL Deficiency
    • LIPA Deficiency
  • Mannosidosis, Alpha B, Lysosomal
  • Mannosidosis, Beta A, Lysosomal
    • Beta-Mannosidase Deficiency
    • Beta-Mannosidosis
    • Lysosomal Beta-Mannosidase Deficiency
  • Metachromatic Leukodystrophy
    • Arsa Deficiency
    • Arylsulfatase A Deficiency
    • Cerebral Sclerosis, Diffuse, Metachromatic Form
    • Cerebroside Sulfatase Deficiency
    • Metachromatic Leukodystrophy, Adult, Included
    • Metachromatic Leukodystrophy, Juvenile, Included
    • Metachromatic Leukodystrophy, Late Infantile, Included
    • Metachromatic Leukoencephalopathy
    • Mld
    • Pseudoarylsulfatase A Deficiency, Included
    • Sulfatide Lipidosis
  • Metachromatic Leukodystrophy Due To Saposin B Deficiency
  • Mucolipidosis II Alpha/Beta
    • I-Cell Disease
    • ML II Alpha/Beta
    • Mucolipidosis II
  • Mucolipidosis III Alpha/Beta
    • ML III Alpha/Beta
    • Mucolipidosis III
    • Mucolipidosis IIIA
    • Pseudo-Hurler Polydystrophy
  • Mucolipidosis III Gamma
    • Ml III Gamma
    • Mucolipidosis III, Complementation Group C
    • Mucolipidosis III, Iranian Variant Form
    • Mucolipidosis III, Variant Form
    • Mucolipidosis IIIc
  • Mucolipidosis IV
    • Sialolipidosis
  • Mucopolysaccharidosis Type II
    • Hunter Syndrome
    • Ids Deficiency
    • Iduronate 2-Sulfatase Deficiency
    • Iduronate 2-Sulfatase, Included
    • Mps II
    • Sids Deficiency
    • Sulfoiduronate Sulfatase Deficiency
  • Mucopolysaccharidosis Type IIIA
    • Heparan Sulfate Sulfatase Deficiency
    • Sanfilippo Syndrome A
    • Sulfamidase Deficiency
  • Mucopolysaccharidosis Type IIIB
    • N-Acetyl-Alpha-D-Glucosaminidase Deficiency
    • NAGLU Deficiency
    • Sanfilippo Syndrome B
  • Mucopolysaccharidosis Type IVA
    • Galactosamine-6-Sulfatase Deficiency
    • Galactosamine-6-Sulfate Sulfatase, Included
    • GALNS Deficiency
    • Morquio Syndrome A
    • MPS IVA
  • Mucopolysaccharidosis Type IVB
    • Morquio Syndrome B
    • MPS IVB
  • Mucopolysaccharidosis Type VI
    • Arsb Deficiency
    • Arylsulfatase B Deficiency
    • Maroteaux-Lamy Syndrome
    • N-Acetylgalactosamine-4-Sulfatase Deficiency
  • Mucopolysaccharidosis, Type IIIC
    • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
    • Sanfilippo Syndrome C
  • Mucopolysaccharidosis, Type IIID
    • N-Acetylglucosamine-6-Sulfatase Deficiency
    • Sanfilippo Syndrome D
  • Mucopolysaccharidosis, Type IX
  • Mucopolysaccharidosis, Type VII
    • Beta-Glucuronidase Deficiency
    • Gusb Deficiency
    • Sly Syndrome
  • Multiple Sulfatase Deficiency
    • Mucosulfatidosis
    • Sulfatidosis, Juvenile, Austin Type
  • Neuraminidase Deficiency
    • Glycoprotein Neuraminidase Deficiency
    • Lipomucopolysaccharidosis
    • ML I
    • Mucolipidosis I
    • NEU Deficiency
    • NEU1 Deficiency
    • NEUG Deficiency
    • Neuraminidase 1 Deficiency
    • Sialidase Deficiency
    • Sialidosis, Type II
  • Niemann-Pick Disease, Type A
    • Sphingomyelin Lipidosis
    • Sphingomyelinase Deficiency
  • Niemann-Pick Disease, Type C1
    • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
    • Niemann-Pick Disease With Cholesterol Esterification Block
    • Niemann-Pick Disease Without Sphingomyelinase Deficiency
    • Niemann-Pick Disease, Chronic Neuronopathic Form
    • Niemann-Pick Disease, Nova Scotian Type, Included
    • Niemann-Pick Disease, Subacute Juvenile Form
    • Niemann-Pick Disease, Type C
    • Niemann-Pick Disease, Type D, Included
  • Niemann-Pick Disease, Type C2
  • Pycnodysostosis
    • Pyknodysostosis
  • Salla Disease
    • Sialuria, Finnish Type
  • Sandhoff Disease
    • Gm2-Gangliosidosis, Type II
    • Hexosaminidases A And B Deficiency
  • Schindler Disease, Type I
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type I
    • Naga Deficiency, Type I
    • Neuroaxonal Dystrophy, Schindler Type
  • Sialuria
  • Tay-Sachs Disease
    • B Variant GM2-Gangliosidosis
    • GM2-Gangliosidosis, Type I
    • HEXA deficiency
    • Hexosaminidase A Deficiency
  • alpha-L-fucosidase 1
    • fucosidase, alpha-L- 1, tissue
  • alpha-N-acetylgalactosaminidase
    • N-acetylgalactosaminidase, alpha
  • arylsulfatase A
    • arylsulphatase A
    • cerebroside 3-sulfatase
    • cerebroside 3-sulphatase
    • cerebroside-sulfatase
    • cerebroside-sulphatase
  • arylsulfatase B
  • arylsulfatase G
  • aspartylglucosaminidase
    • 0
  • cathepsin A
    • protective protein for beta-galactosidase (galactosialidosis)
  • cathepsin D
  • cathepsin K
    • cathepsin K (pycnodysostosis)
  • CLN3, battenin
    • batten, spielmeyer-vogt disease
    • battenin
    • ceroid-lipofuscinosis, neuronal 3
    • cln3 gene
    • juvenile neuronal ceroid lipofuscinosis
  • CLN5, intracellular trafficking protein
    • ceroid-lipofuscinosis, neuronal 5
  • CLN6, transmembrane ER protein
    • ceroid-lipofuscinosis, neuronal 6, late infantile, variant
    • CLN6 Gene
  • CLN8, transmembrane ER and ERGIC protein
    • ceroid-lipofuscinosis, neuronal 8
    • ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • cystinosin, lysosomal cystine transporter
    • cystinosin
    • cystinosis, nephropathic
  • DNAJ (Hsp40) homolog, subfamily C, member 19
    • DnaJ heat shock protein family (Hsp40) member C19
  • galactosamine (N-acetyl)-6-sulfate sulfatase
    • galactosamine-6-sulfatase deficiency
    • galactosamine-6-sulfate sulfatase, included
    • GALNS deficiency
    • morquio syndrome A
    • MPS IVa
    • mucopolysaccharidosis type IVa
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • galactosidase, beta 1
    • elastin receptor 1 (67kD)
    • elastin receptor 1, 67kDa
  • galactosylceramidase
    • galactosylceramidase (krabbe disease)
  • glucosamine (N-acetyl)-6-sulfatase
  • glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • glucosidase, alpha, acid
    • glycogen storage disease type II
    • pompe disease
  • glucosylceramidase beta
    • glucocerebrosidase
    • glucocerebrosidase beta
    • glucosidase, acid beta
    • glucosidase, beta, acid
    • glucosidase, beta; acid (includes glucosylceramidase)
  • glucuronidase, beta
  • GM2 ganglioside activator
  • heparan-alpha-glucosaminide N-acetyltransferase
  • hexosaminidase subunit alpha
    • hexosaminidase a (alpha polypeptide)
  • hexosaminidase subunit beta
    • hexosaminidase b (beta polypeptide)
  • hyaluronoglucosaminidase 1
  • iduronate 2-sulphatase
    • hunter syndrome
    • ids deficiency
    • iduronate 2-sulfatase
    • iduronate 2-sulfatase deficiency
    • mucopolysaccharidosis type II
    • sids deficiency
    • sulfoiduronate sulfatase deficiency
  • iduronidase, alpha-l-
    • alpha-l-iduronidase
    • iduronidase, alpha-l
  • lipase A, lysosomal acid type
    • cholesterol ester hydrolase
    • lipase A, lysosomal acid, cholesterol esterase
    • lysosomal acid lipase
  • major facilitator superfamily domain containing 8
    • ceroid-lipofuscinosis, neuronal 7, late infantile, variant
  • mannosidase, beta
  • mucolipin 1
  • N-acetyl-alpha-glucosaminidase
    • N-acetylglucosaminidase, alpha
    • sanfilippo disease IIIB
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits
  • N-acylsphingosine amidohydrolase 1
    • N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • N-sulfoglucosamine sulfohydrolase
    • heparan sulfate sulfatase
    • heparan sulphate sulphatase
    • mucopolysaccharidosis type IIIA
    • N-sulfoglucosamine sulfohydrolase
    • N-sulphoglucosamine sulphohydrolase
    • sulfamidase
    • sulphamidase
  • NPC intracellular cholesterol transporter 1
    • neurovisceral storage disease with vertical supranuclear ophthalmoplegia
    • niemann-pick disease with cholesterol esterification block
    • niemann-pick disease without sphingomyelinase deficiency
    • niemann-pick disease, chronic neuronopathic form
    • niemann-pick disease, nova scotian type, included
    • niemann-pick disease, subacute juvenile form
    • niemann-pick disease, type C
    • Niemann-Pick disease, type C1
    • niemann-pick disease, type D, included
  • NPC intracellular cholesterol transporter 2
    • Niemann-Pick disease, type C2
  • palmitoyl-protein thioesterase 1
    • ceroid-lipofuscinosis, neuronal 1, infantile
    • palmitoyl-protein thioesterase
    • palmitoyl-protein thioesterase 1
  • prosaposin
  • sialidase 1 (lysosomal sialidase)
    • sialidase 1
    • sialidase, lysosomal
  • solute carrier family 17 member 5
  • sphingomyelin phosphodiesterase 1
  • sulfatase modifying factor 1
  • tripeptidyl peptidase 1
    • cln2 gene
2015
Inborn Errors of Metabolism (Organic Acidaemias) 11 Gene Panel
  • Homocystinuria-Megaloblastic Anemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Methionine Synthase Deficiency
    • Methylcobalamin Deficiency, cblG Type
  • Malonyl-CoA Decarboxylase Deficiency
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria And Homocystinuria, cblD Type
    • Methylmalonic Acidemia And Homocystinuria, cblD Type
  • Methylmalonic Aciduria And Homocystinuria, cblF Type
    • Cobalamin F Disease; cblF
    • Cobalamin, Defect In Lysosomal Release Of
    • Methylmalonic Acidemia And Homocystinuria, cblF Type
    • Methylmalonic Aciduria Due To Vitamin B12-Release Defect
    • Vitamin B12 Lysosomal Release Defect
    • Vitamin B12 Storage Disease
  • Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
    • Methylmalonic Acidemia Due To Methylmalonyl-CoA Mutase Deficiency MMA Due To MCM Deficiency
    • Methylmalonic Aciduria, mut Type
  • Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
    • Methylmalonic Acidemia, TCblR Type
  • Methylmalonic Aciduria, cblA Type
    • Methylmalonic Acidemia, cblA Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblA Type
  • Methylmalonic Aciduria, cblB Type
    • Methylmalonic Acidemia, cblB Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblB Type
  • Methylmalonyl-CoA Epimerase Deficiency
    • Methylmalonic Aciduria III, Formerly
    • Methylmalonyl-CoA Racemase Deficiency
  • Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
    • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, SUCLA2-Related
  • 5-methyltetrahydrofolate-homocysteine methyltransferase
    • 5-methyltetrahydrofolate-homocysteine s-methyltransferase
    • methionine synthase
    • tetrahydropteroylglutamate methyltransferase
  • CD320 molecule
    • 8D6 antigen
    • CD320 antigen
    • transcobalamin receptor
  • LMBR1 domain containing 1
    • chromosome 6 open reading frame 209
    • NES-interacting protein
  • malonyl-CoA decarboxylase
  • methylmalonic aciduria (cobalamin deficiency) cblA type
    • methylmalonic aciduria (cobalamin deficiency) type A
    • MMAA gene
  • methylmalonic aciduria (cobalamin deficiency) cblB type
    • cob(i)alamin adenosyltransferase
    • methylmalonic aciduria (cobalamin deficiency) type B
    • MMAB gene
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonic aciduria and homocystinuria, cblD type
    • chromosome 2 open reading frame 25
    • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • MMADHC gene
  • methylmalonyl CoA epimerase
    • methylmalonyl-CoA racemase
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • succinate-CoA ligase, ADP-forming, beta subunit
    • a-beta
    • ATP-specific succinyl-CoA synthetase, beta subunit
2014
Inborn Errors of Metabolism (Organic Acidaemias) 50 Gene Panel
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
    • 3-Methylcrotonylglycinuria I
    • MCC1 Deficiency
    • MCCD Type 1
    • Methylcrotonylglycinuria Type I
  • 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
    • 3-Methylcrotonylglycinuria II
    • MCC2 Deficiency
    • Methylcrotonylglycinuria, Type II
  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
  • 3-Methylglutaconic Aciduria, Type I
    • 3-Methylglutaconyl-Coa Hydratase Deficiency
    • 3-Mg-Coa-Hydratase Deficiency
    • Mga, Type I
  • 3-Methylglutaconic Aciduria, Type III
  • 3-Methylglutaconic Aciduria, Type V
    • Cardiomyopathy, Dilated, With Ataxia
    • MGA, Type V
  • Barth Syndrome
    • 3-@methylglutaconicaciduria, Type II
    • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
    • Mga, Type II
  • Biotinidase Deficiency
    • Btd Deficiency
    • Multiple Carboxylase Deficiency, Juvenile-Onset
    • Multiple Carboxylase Deficiency, Late-Onset
  • Brown-Vialetto-Van Laere Syndrome 2
  • Combined Malonic And Methylmalonic Aciduria
  • Fazio-Londe Disease
    • Bulbar Palsy, Progressive, Of Childhood
  • Folate Malabsorption, Hereditary
  • Glutamate Formiminotransferase Deficiency
    • Figlu-Uria
    • Formiminoglutamic Aciduria
    • Formiminotransferase Deficiency
  • Holocarboxylase Synthetase Deficiency
  • Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
    • Methylenetetrahydrofolate Reductase Deficiency
    • MTHFR Deficiency
  • Homocystinuria-Megaloblastic Anemia, cblE Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cble Complementation Type
    • Methylcobalamin Deficiency, Cble Type
    • Vitamin B12-Responsive Homocystinuria, Cble Type
  • Homocystinuria-Megaloblastic Anemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Methionine Synthase Deficiency
    • Methylcobalamin Deficiency, cblG Type
  • Intrinsic Factor Deficiency
  • Isovaleric Acidemia
    • Isovaleric Acid Coa Dehydrogenase Deficiency
    • IVD Deficiency
  • Maple Syrup Urine Disease
    • Bckd Deficiency
    • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
    • Branched-Chain Ketoaciduria
    • Keto Acid Decarboxylase Deficiency
  • Maple Syrup Urine Disease, Mild Variant
  • Megaloblastic Anemia 1
  • Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
  • Methylmalonic Acidemia And Homocysteinemia, cblX Type
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria And Homocystinuria, cblD Type
    • Methylmalonic Acidemia And Homocystinuria, cblD Type
  • Methylmalonic Aciduria And Homocystinuria, cblF Type
    • Cobalamin F Disease; cblF
    • Cobalamin, Defect In Lysosomal Release Of
    • Methylmalonic Acidemia And Homocystinuria, cblF Type
    • Methylmalonic Aciduria Due To Vitamin B12-Release Defect
    • Vitamin B12 Lysosomal Release Defect
    • Vitamin B12 Storage Disease
  • Methylmalonic Aciduria And Homocystinuria, cblJ Type
  • Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
    • Methylmalonic Acidemia Due To Methylmalonyl-CoA Mutase Deficiency MMA Due To MCM Deficiency
    • Methylmalonic Aciduria, mut Type
  • Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
    • Methylmalonic Acidemia, TCblR Type
  • Methylmalonic Aciduria, cblA Type
    • Methylmalonic Acidemia, cblA Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblA Type
  • Methylmalonic Aciduria, cblB Type
    • Methylmalonic Acidemia, cblB Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblB Type
  • Methylmalonyl-CoA Epimerase Deficiency
    • Methylmalonic Aciduria III, Formerly
    • Methylmalonyl-CoA Racemase Deficiency
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
  • Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
    • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, SUCLA2-Related
  • Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
    • Lactic Acidosis, Fatal Infantile
  • Neural Tube Defects, Folate-Sensitive
  • Neurodegeneration Due To Cerebral Folate Transport Deficiency
  • Optic Atrophy 3, Autosomal Dominant
    • OPA3, Autosomal Dominant
    • Optic Atrophy And Cataract, Autosomal Dominant
  • Propionic Acidaemia
    • Glycinemia, Ketotic
    • Hyperglycinemia With Ketoacidosis And Leukopenia
    • Ketotic Hyperglycinemia
    • PCC Deficiency
    • Propionyl-CoA Carboxylase Deficiency
  • Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
    • Basal Ganglia Disease, Biotin-Responsive
    • Encephalopathy, Thiamine-Responsive
  • Transcobalamin I
  • 5-methyltetrahydrofolate-homocysteine methyltransferase
    • 5-methyltetrahydrofolate-homocysteine s-methyltransferase
    • methionine synthase
    • tetrahydropteroylglutamate methyltransferase
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • acyl-CoA synthetase family member 3
  • amnion associated transmembrane protein
    • amnionless
  • ATP-binding cassette, sub-family D, member 4
  • AU RNA binding methylglutaconyl-CoA hydratase
    • AU RNA binding protein/enoyl-CoA hydratase
  • biotinidase
  • branched chain keto acid dehydrogenase E1, alpha polypeptide
  • branched chain keto acid dehydrogenase E1, beta polypeptide
  • CD320 molecule
    • 8D6 antigen
    • CD320 antigen
    • transcobalamin receptor
  • cubilin
  • dihydrofolate reductase
  • dihydrofolate reductase 2
    • dihydrofolate reductase like 1
  • dihydrolipoamide branched chain transacylase E2
  • DNAJ (Hsp40) homolog, subfamily C, member 19
    • DnaJ heat shock protein family (Hsp40) member C19
  • folate receptor 1
    • folate receptor
    • folate receptor 1 (adult)
    • folate receptor, alpha
    • folate-binding protein, adult
    • ovarian cancer-associated antigen
  • folate receptor 3
    • folate receptor 3 (gamma)
  • folate receptor beta
    • folate receptor 2 (fetal)
  • formimidoyltransferase cyclodeaminase
  • gastric intrinsic factor
  • holocarboxylase synthetase
  • host cell factor C1
  • isovaleryl-CoA dehydrogenase
  • LMBR1 domain containing 1
    • chromosome 6 open reading frame 209
    • NES-interacting protein
  • methylcrotonoyl-CoA carboxylase 1
  • methylcrotonoyl-CoA carboxylase 2
  • methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
    • methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
  • methylenetetrahydrofolate reductase
    • 5,10-methylenetetrahydrofolate reductase (NADPH)
    • methylenetetrahydrofolate reductase (NAD(P)H)
  • methylmalonic aciduria (cobalamin deficiency) cblA type
    • methylmalonic aciduria (cobalamin deficiency) type A
    • MMAA gene
  • methylmalonic aciduria (cobalamin deficiency) cblB type
    • cob(i)alamin adenosyltransferase
    • methylmalonic aciduria (cobalamin deficiency) type B
    • MMAB gene
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonic aciduria and homocystinuria, cblD type
    • chromosome 2 open reading frame 25
    • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • MMADHC gene
  • methylmalonyl CoA epimerase
    • methylmalonyl-CoA racemase
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • OPA3, outer mitochondrial membrane lipid metabolism regulator
    • optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • propionyl-CoA carboxylase, alpha subunit
    • pccA complementation group
    • propionyl Coenzyme A carboxylase, alpha polypeptide
  • propionyl-CoA carboxylase, beta subunit
    • propionyl Coenzyme A carboxylase, beta polypeptide
  • protein phosphatase, Mg2+/Mn2+ dependent 1K
  • serine active site containing 1
  • solute carrier family 19 member 3
  • solute carrier family 46 member 1
  • solute carrier family 52 member 1
    • G protein-coupled receptor 172B
    • G protein-coupled receptor 42
    • PERV-A receptor 2
    • porcine endogenous retrovirus, subgroup A, receptor 2
    • riboflavin transporter 1
    • solute carrier family 52 (riboflavin transporter), member 1
    • solute carrier family 52, riboflavin transporter, member 1
  • solute carrier family 52 member 2
    • G protein-coupled receptor 172A
    • PERV-A receptor 1
    • porcine endogenous retrovirus, subgroup A, receptor 1
    • riboflavin transporter 3
    • solute carrier family 52 (riboflavin transporter), member 2
    • solute carrier family 52, riboflavin transporter, member 2
  • solute carrier family 52 member 3
    • chromosome 20 open reading frame 54
    • riboflavin transporter 2
    • solute carrier family 52 (riboflavin transporter), member 3
    • solute carrier family 52, riboflavin transporter, member 3
  • succinate-CoA ligase, ADP-forming, beta subunit
    • a-beta
    • ATP-specific succinyl-CoA synthetase, beta subunit
  • succinate-CoA ligase, alpha subunit
    • g-alpha
    • succinate-CoA ligase, ADP-forming, alpha subunit
    • succinate-CoA ligase, GDP-forming, alpha subunit
  • tafazzin
    • (cardiomyopathy, dilated 3a (x-linked)
    • barth syndrome
    • endocardial fibroelastosis 2
  • transcobalamin 1
  • transcobalamin 2
  • transmembrane protein 70
2015
Inborn Errors of Metabolism 226 Gene Panel
  • 2,4-Dienoyl-CoA Reductase Deficiency
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • HL Deficiency
    • HMG-CoA Lyase Deficiency
    • HMGCL Deficiency
    • Hydroxymethylglutaric Aciduria
  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency
    • HMGCS2 Deficiency
    • Mitochondrial HMG-CoA Synthase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
    • 3-Methylcrotonylglycinuria I
    • MCC1 Deficiency
    • MCCD Type 1
    • Methylcrotonylglycinuria Type I
  • 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
    • 3-Methylcrotonylglycinuria II
    • MCC2 Deficiency
    • Methylcrotonylglycinuria, Type II
  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
  • 3-Methylglutaconic Aciduria, Type I
    • 3-Methylglutaconyl-Coa Hydratase Deficiency
    • 3-Mg-Coa-Hydratase Deficiency
    • Mga, Type I
  • 3-Methylglutaconic Aciduria, Type III
  • 3-Methylglutaconic Aciduria, Type V
    • Cardiomyopathy, Dilated, With Ataxia
    • MGA, Type V
  • Acatalasemia
  • Acetyl-CoA Acetyltransferase-2 Deficiency
  • Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
    • ACADM Deficiency
    • Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    • MCAD Deficiency
    • MCADH Deficiency
  • Acyl-CoA Dehydrogenase, Short-Chain, Deficiency Of
    • ACADS Deficiency
    • Lipid-Storage Myopathy Secondary To Short-Chain Acyl-CoA Dehydrogenase Deficiency
    • SCAD Deficiency
    • SCADH Deficiency
  • Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency Of
    • VLCAD Deficiency
  • Adrenoleukodystrophy
    • Addison Disease And Cerebral Sclerosis
    • Adrenomyeloneuropathy
    • Bronze Schilder Disease
    • Melanodermic Leukodystrophy
    • Siemerling-Creutzfeldt Disease
  • Alkaptonuria
  • Alpha-Methylacetoacetic Aciduria
    • 2-Methyl-3-Hydroxybutyric Acidemia|Beta-Ketothiolase Deficiency
    • 3-Ketothiolase Deficiency
    • 3-KTD Deficiency
    • 3-Oxothiolase Deficiency
    • Mat Deficiency
    • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
    • T2 Deficiency
  • Alpha-Methylacyl-CoA Racemase Deficiency
    • AMACR Deficiency
  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • Aromatic L-Amino Acid Decarboxylase Deficiency
  • Aspartylglucosaminuria
    • Aga Deficiency|Glycoasparaginase
    • Aspartylglucosaminidase Deficiency
    • Aspartylglycosaminuria
    • Glycosylasparaginase Deficiency
  • Barth Syndrome
    • 3-@methylglutaconicaciduria, Type II
    • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
    • Mga, Type II
  • Biotinidase Deficiency
    • Btd Deficiency
    • Multiple Carboxylase Deficiency, Juvenile-Onset
    • Multiple Carboxylase Deficiency, Late-Onset
  • Brown-Vialetto-Van Laere Syndrome 1
    • Bulbar Palsy, Progressive, With Sensorineural Deafness
    • Pontobulbar Palsy With Deafness
  • Brown-Vialetto-Van Laere Syndrome 2
  • Brunner Syndrome
  • Canavan Disease
    • Acy2 Deficiency
    • Aminoacylase 2 Deficiency
    • Asp Deficiency
    • Aspa Deficiency
    • Aspartoacylase Deficiency
    • Canavan-Van Bogaert-Bertrand Disease
    • Spongy Degeneration Of Central Nervous System
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • Carnitine Deficiency, Systemic Primary
    • Carnitine Deficiency, Primary
    • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
    • Carnitine Transporter, Plasma-Membrane, Deficiency Of
    • Carnitine Uptake Defect
    • Systemic Carnitine Deficiency
  • Carnitine Palmitoyltransferase II Deficiency, Infantile
    • Carnitine Palmitoyltransferase II Deficiency With Hypoketotic Hypoglycemia
    • Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
    • CPT II Deficiency, Hepatic
    • CPT2 Deficiency, Infantile
  • Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Antenatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Neonatal
    • CPT II Deficiency, Lethal Neonatal
    • CPT2 Deficiency, Lethal Neonatal
  • Carnitine Palmitoyltransferase II Deficiency, Myopathic, Stress-Induced
    • Carnitine Palmitoyltransferase II Deficiency, Adult-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Late-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Myopathic
    • Cpt II Deficiency, Myopathic
    • Cpt2 Deficiency, Late-Onset
  • Carnitine-Acylcarnitine Translocase Deficiency
    • Cact Deficiency
    • Carnitine-Acylcarnitine Carrier
    • Carnitine-Acylcarnitine Translocase
  • Ceroid Lipofuscinosis, Neuronal, 1
    • Ceroid Lipofuscinosis, Neuronal 1, Infantile
    • Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset
    • Infantile Neuronal Ceroid Lipofuscinosis
    • Neuronal Ceroid Lipofuscinosis, Infantile Finnish Type
    • Santavuori Disease
    • Santavuori-Haltia Disease
  • Ceroid Lipofuscinosis, Neuronal, 10
  • Ceroid Lipofuscinosis, Neuronal, 2
    • Ceroid Lipofuscinosis, Neuronal 2, Late Infantile
    • Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
    • Jansky-Bielschowsky Disease
    • Ncl, Late Infantile
    • Neuronal Ceroid Lipofuscinosis, Late Infantile
  • Ceroid Lipofuscinosis, Neuronal, 3
    • Batten Disease
    • Ceroid Lipofuscinosis, Neuronal 3, Juvenile
    • Neuronal Ceroid Lipofuscinosis, Juvenile Type
    • Vogt-Spielmeyer Disease
  • Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
  • Ceroid Lipofuscinosis, Neuronal, 5
    • Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
    • Finnish Vlincl, Included
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Finnish Variant, Included
  • Ceroid Lipofuscinosis, Neuronal, 6
    • Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant, Included
    • Vlincl, Included
  • Ceroid Lipofuscinosis, Neuronal, 7
  • Ceroid Lipofuscinosis, Neuronal, 8
  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • Citrullinemia, Type II, Adult-Onset
    • Citrin Deficiency
  • Citrullinemia, Type II, Neonatal-Onset
    • Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency
  • Combined Malonic And Methylmalonic Aciduria
  • Combined Saposin Deficiency
  • Congenital Disorder Of Glycosylation, Type It
    • CDG It
    • Glycogen Storage Disease XIV
    • PGM1 Deficiency
    • Phosphoglucomutase 1 Deficiency
  • Cutis Laxa, Autosomal Recessive, Type IIIA
    • Cutis Laxa, Corneal Clouding, And Mental Retardation
    • De Barsy Syndrome A
    • Progeroid Syndrome Of De Barsy
  • Cystathioninuria
  • Cystinosis, Adult Nonnephropathic
    • Cystinosis, Benign Nonnephropathic
    • Cystinosis, Ocular Nonnephropathic
  • Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
    • Cystinosis, Intermediate
  • Cystinosis, Nephropathic
    • Cystinosin, Defect Of
    • Cystinosis, Infantile Nephropathic, Included
    • Lysosomal Cystine Transport Protein, Defect Of
  • Cystinuria
  • D-2-Hydroxyglutaric Aciduria 1
  • D-Bifunctional Protein Deficiency
    • 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency
    • DBP Deficiency
    • PBFE Deficiency
    • Peroxisomal Bifunctional Enzyme Deficiency
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • Dopamine Beta-Hydroxylase Deficiency, Congenital
  • Dystonia, Dopa-Responsive
    • Dopa-Responsive Dystonia, Autosomal Dominant
    • Dystonia 5
    • Dystonia, Dopa-Responsive, Autosomal Dominant
    • Dystonia, Progressive, With Diurnal Variation
    • Dystonia-Parkinsonism With Diurnal Fluctuation
    • Segawa Syndrome, Autosomal Dominant
  • Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
    • Sepiapterin Reductase Deficiency
    • SPR Deficiency
  • Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
  • Epilepsy, Pyridoxine-Dependent
    • AASA Dehydrogenase Deficiency
    • Pyridoxine Dependency With Seizures
    • Pyridoxine-Dependent Epilepsy
  • Epileptic Encephalopathy, Early Infantile, 3
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Fanconi-Bickel Syndrome
    • Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance
    • Glycogen Storage Disease XI
    • Glycogenosis, Fanconi Type
    • Hepatic Glycogenosis With Amino Aciduria And Glucosuria
    • Hepatic Glycogenosis With Fanconi Nephropathy
    • Hepatorenal Glycogenosis With Renal Fanconi Syndrome
    • Pseudo-Phlorizin Diabetes
  • Farber Lipogranulomatosis
    • Ac Deficiency
    • Acid Ceramidase Deficiency
    • Ceramidase Deficiency
    • Farber Disease
    • N-Laurylsphingosine Deacylase Deficiency
  • Fazio-Londe Disease
    • Bulbar Palsy, Progressive, Of Childhood
  • Folate Malabsorption, Hereditary
  • Fructose-1,6-Bisphosphatase Deficiency
  • Fucosidosis
    • Alpha-L-Fucosidase Deficiency
  • GABA-Transaminase Deficiency
  • Galactokinase Deficiency
    • Galactosemia II
    • GALK Deficiency
  • Galactose Epimerase Deficiency
    • Galactosemia III
    • Gale Deficiency
    • Udp-Galactose-4-Epimerase Deficiency
  • Galactosemia
    • Galactosaemia
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactosemia, Classic
    • Galt Deficiency
  • Galactosialidosis
    • Cathepsin A Deficiency
    • Goldberg Syndrome
    • Lysosomal Protective Protein Deficiency
    • Neuraminidase Deficiency With Beta-Galactosidase Deficiency
    • Neuraminidase/Beta-Galactosidase Expression
    • PPCA Deficiency
    • Protective Protein/Cathepsin A Deficiency
  • Gaucher Disease, Atypical, Due To Saposin C Deficiency
  • Gaucher Disease, Perinatal Lethal
  • Generalized Epilepsy With Febrile Seizures Plus, Type 3
    • GEFS+, Type 3
  • GLUT1 Deficiency Syndrome 1
    • Glucose Transport Defect, Blood-Brain Barrier
  • GLUT1 Deficiency Syndrome 2
    • Dystonia 18
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anaemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anemia
  • Glutamate Formiminotransferase Deficiency
    • Figlu-Uria
    • Formiminoglutamic Aciduria
    • Formiminotransferase Deficiency
  • Glutaric Acidemia I
    • Glutaricacidemia I
    • Glutaricaciduria I
    • Glutaryl-CoA Dehydrogenase Deficiency
  • Glycine Encephalopathy
    • Hyperglycinemia, Nonketotic
    • Hyperglycinemia, Transient Neonatal, Included
  • Glycine N-Methyltransferase Deficiency
  • Glycogen Storage Disease 0, Liver
    • Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver
    • Liver Glycogen Storage Disease 0
    • Liver Glycogen Synthase Deficiency
  • Glycogen Storage Disease 0, Muscle
    • Muscle Glycogen Storage Disease 0
    • Muscle Glycogen Synthase Deficiency
  • Glycogen Storage Disease Ia
    • G6pt, Formerly, Included
    • Glucose-6-Phosphatase Deficiency
    • Glucose-6-Phosphatase, Catalytic, Included
    • Glycogen Storage Disease I
    • Hepatorenal Form Of Glycogen Storage Disease
    • Hepatorenal Glycogenosis
    • Von Gierke Disease
  • Glycogen Storage Disease Ib
    • Glucose-6-Phosphate Transport Defect
    • GSD1b
  • Glycogen Storage Disease Ic
    • Glycogen Storage Disease Id, Included
  • Glycogen Storage Disease II
    • Acid Alpha-Glucosidase Deficiency
    • Acid Maltase Deficiency
    • Alpha-1,4-Glucosidase Deficiency
    • Cardiomegalia Glycogenica Diffusa
    • Gaa Deficiency
    • Glycogenosis, Generalized, Cardiac Form
    • GSD II
    • Pompe Disease
  • Glycogen Storage Disease III
    • Agl Deficiency
    • Amylo-1,6-Glucosidase Deficiency
    • Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase, Included
    • Cori Disease
    • Forbes Disease
    • Gde Deficiency
    • Glycogen Debrancher Deficiency
    • Glycogen Debrancher Enzyme, Included
    • Glycogen Debranching Deficiency
    • Limit Dextrinosis
  • Glycogen Storage Disease IV
    • Amylopectinosis
    • Andersen Disease
    • Brancher Deficiency
    • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen
    • Gbe1 Deficiency
    • Glycogen Branching Enzyme Deficiency
    • Glycogenosis IV
  • Glycogen Storage Disease IXa1
    • Glycogen Storage Disease VIII, Formerly
    • Gsd VIII, Formerly
    • Liver Glycogenosis, X-Linked, Type I
  • Glycogen Storage Disease IXb
    • Glycogenosis Of Liver And Muscle, Autosomal Recessive
    • Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive
  • Glycogen Storage Disease IXc
  • Glycogen Storage Disease Of Heart, Lethal Congenital
    • Glycogen Storage Disease Of Heart
    • Phosphorylase Kinase Deficiency Of Heart
  • Glycogen Storage Disease V
    • Mcardle Disease
    • Muscle Glycogen Phosphorylase Deficiency
    • Myophosphorylase Deficiency
    • Pygm Deficiency
  • Glycogen Storage Disease VI
    • Hers Disease
    • Phosphorylase Deficiency Glycogen-Storage Disease Of Liver
  • Glycogen Storage Disease VII
    • Muscle Phosphofructokinase Deficiency
    • Pfkm Deficiency
    • Tarui Disease
  • Glycogen Storage Disease XII
    • Aldoa Deficiency
    • Aldolase A Deficiency
    • Aldolase Deficiency, Red Cell
    • Red Cell Aldolase Deficiency
  • Glycogen Storage Disease XV
    • Glycogenin Deficiency
    • GYG1 Deficiency
  • Glycogen Storage Disease, Type IXd
    • Muscle Glycogenosis, X-Linked
    • Muscle Phosphorylase Kinase Deficiency
  • GM1-Gangliosidosis, Type I
    • Beta-Galactosidase-1 Deficiency
    • Gangliosidosis, Generalized GM1, Infantile Form
    • Gangliosidosis, Generalized GM1, Type 1
    • Gangliosidosis, Generalized GM1, Type I
    • GLB1 Deficiency
  • GM1-Gangliosidosis, Type II
    • Gangliosidosis, Generalized GM1, Juvenile Type
    • Gangliosidosis, Generalized GM1, Type 2
    • Gangliosidosis, Generalized GM1, Type II
  • GM1-Gangliosidosis, Type III
    • Gangliosidosis, Generalized GM1, Adult Type
    • Gangliosidosis, Generalized GM1, Chronic Type
    • Gangliosidosis, Generalized GM1, Type 3
    • Gangliosidosis, Generalized GM1, Type III
  • GM2-Gangliosidosis, AB Variant
    • Ab Variant Gm2-Gangliosidosis
    • Gm2 Activator Deficiency
    • Hexosaminidase Activator Deficiency
    • Tay-Sachs Disease, Ab Variant
  • Gyrate Atrophy Of Choroid And Retina
    • Gyrate Atrophy
    • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
    • OAT Deficiency
    • OKT Deficiency
    • Ornithine Aminotransferase Deficiency
    • Ornithine Keto Acid Aminotransferase Deficiency
    • Ornithine-Delta-Aminotransferase Deficiency
  • Hartnup Disorder
  • Hawkinsinuria
  • Holocarboxylase Synthetase Deficiency
  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
    • Cbs Deficiency
    • Cystathionine Beta-Synthase Deficiency
    • Homocystinuria
    • Homocystinuria With Or Without Response To Pyridoxine
  • Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
    • Methylenetetrahydrofolate Reductase Deficiency
    • MTHFR Deficiency
  • Homocystinuria-Megaloblastic Anemia, cblE Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cble Complementation Type
    • Methylcobalamin Deficiency, Cble Type
    • Vitamin B12-Responsive Homocystinuria, Cble Type
  • Homocystinuria-Megaloblastic Anemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Methionine Synthase Deficiency
    • Methylcobalamin Deficiency, cblG Type
  • Hurler Syndrome
  • Hurler-Scheie Syndrome
    • Hurler Syndrome
    • Mucopolysaccharidosis Type Ih
    • Mucopolysaccharidosis Type Ih/s
    • Mucopolysaccharidosis Type Is
    • Scheie Syndrome
  • Hyperekplexia, Hereditary 1
    • Exaggerated Startle Reaction
    • KOK Disease
    • Startle Disease, Familial
    • Startle Reaction, Exaggerated
    • Stiff-Baby Syndrome
    • Stiff-Man Syndrome, Congenital
    • Stiff-Person Syndrome, Congenital
  • Hyperglycinuria
  • Hyperinsulinemic Hypoglycemia, Familial, 6
    • Hyperinsulinism-Hyperammonemia Syndrome
  • Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    • HHH Syndrome
    • Ornithine Translocase Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, A
    • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
    • Pts Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, B
    • GTP Cyclohydrolase I Deficiency
    • Guanosine Triphosphate Cyclohydrolase I Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP
  • Hyperphenylalaninemia, BH4-Deficient, D
    • Cadh Deficiency|Pcbd Deficiency
    • Hyperphenylalaninemia With Primapterinuria
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
  • Iminoglycinuria
  • Infantile Sialic Acid Storage Disease
    • N-Acetylneuraminic Acid Storage Disease
    • Nana Storage Disease
    • Sialuria, Infantile Form
  • Intrinsic Factor Deficiency
  • Isovaleric Acidemia
    • Isovaleric Acid Coa Dehydrogenase Deficiency
    • IVD Deficiency
  • Kanzaki Disease
    • Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type II
    • Naga Deficiency, Type II
    • Schindler Disease, Type Ii
  • Krabbe Disease
    • Galactocerebrosidase Deficiency
    • Galactosylceramide Beta-Galactosidase Deficiency
    • Galc Deficiency
    • Globoid Cell Leukodystrophy
    • Globoid Cell Leukoencephalopathy
  • Krabbe Disease, Atypical, Due To Saposin A Deficiency
  • L-2-Hydroxyglutaric Aciduria
    • L-2-Hydroxyglutaric Acidemia
  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • LCHAD Deficiency
  • Lysinuric Protein Intolerance
    • Dibasic Amino Aciduria II
  • Lysosomal Acid Lipase Deficiency
    • Cholesterol Ester Hydrolase Deficiency
    • Cholesteryl Ester Storage Disease
    • LAL Deficiency
    • LIPA Deficiency
  • Mannosidosis, Alpha B, Lysosomal
  • Mannosidosis, Beta A, Lysosomal
    • Beta-Mannosidase Deficiency
    • Beta-Mannosidosis
    • Lysosomal Beta-Mannosidase Deficiency
  • Maple Syrup Urine Disease
    • Bckd Deficiency
    • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
    • Branched-Chain Ketoaciduria
    • Keto Acid Decarboxylase Deficiency
  • Maple Syrup Urine Disease, Mild Variant
  • Megaloblastic Anemia 1
  • Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
  • Metachromatic Leukodystrophy
    • Arsa Deficiency
    • Arylsulfatase A Deficiency
    • Cerebral Sclerosis, Diffuse, Metachromatic Form
    • Cerebroside Sulfatase Deficiency
    • Metachromatic Leukodystrophy, Adult, Included
    • Metachromatic Leukodystrophy, Juvenile, Included
    • Metachromatic Leukodystrophy, Late Infantile, Included
    • Metachromatic Leukoencephalopathy
    • Mld
    • Pseudoarylsulfatase A Deficiency, Included
    • Sulfatide Lipidosis
  • Metachromatic Leukodystrophy Due To Saposin B Deficiency
  • Methylmalonic Acidemia And Homocysteinemia, cblX Type
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria And Homocystinuria, cblD Type
    • Methylmalonic Acidemia And Homocystinuria, cblD Type
  • Methylmalonic Aciduria And Homocystinuria, cblF Type
    • Cobalamin F Disease; cblF
    • Cobalamin, Defect In Lysosomal Release Of
    • Methylmalonic Acidemia And Homocystinuria, cblF Type
    • Methylmalonic Aciduria Due To Vitamin B12-Release Defect
    • Vitamin B12 Lysosomal Release Defect
    • Vitamin B12 Storage Disease
  • Methylmalonic Aciduria And Homocystinuria, cblJ Type
  • Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
    • Methylmalonic Acidemia Due To Methylmalonyl-CoA Mutase Deficiency MMA Due To MCM Deficiency
    • Methylmalonic Aciduria, mut Type
  • Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
    • Methylmalonic Acidemia, TCblR Type
  • Methylmalonic Aciduria, cblA Type
    • Methylmalonic Acidemia, cblA Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblA Type
  • Methylmalonyl-CoA Epimerase Deficiency
    • Methylmalonic Aciduria III, Formerly
    • Methylmalonyl-CoA Racemase Deficiency
  • Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency
    • ACAD9 Deficiency
    • Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
  • Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
    • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, SUCLA2-Related
  • Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
    • Lactic Acidosis, Fatal Infantile
  • Mitochondrial Trifunctional Protein Deficiency
    • Trifunctional Protein Deficiency
  • Mucolipidosis II Alpha/Beta
    • I-Cell Disease
    • ML II Alpha/Beta
    • Mucolipidosis II
  • Mucolipidosis III Alpha/Beta
    • ML III Alpha/Beta
    • Mucolipidosis III
    • Mucolipidosis IIIA
    • Pseudo-Hurler Polydystrophy
  • Mucolipidosis III Gamma
    • Ml III Gamma
    • Mucolipidosis III, Complementation Group C
    • Mucolipidosis III, Iranian Variant Form
    • Mucolipidosis III, Variant Form
    • Mucolipidosis IIIc
  • Mucolipidosis IV
    • Sialolipidosis
  • Mucopolysaccharidosis Type II
    • Hunter Syndrome
    • Ids Deficiency
    • Iduronate 2-Sulfatase Deficiency
    • Iduronate 2-Sulfatase, Included
    • Mps II
    • Sids Deficiency
    • Sulfoiduronate Sulfatase Deficiency
  • Mucopolysaccharidosis Type IIIA
    • Heparan Sulfate Sulfatase Deficiency
    • Sanfilippo Syndrome A
    • Sulfamidase Deficiency
  • Mucopolysaccharidosis Type IIIB
    • N-Acetyl-Alpha-D-Glucosaminidase Deficiency
    • NAGLU Deficiency
    • Sanfilippo Syndrome B
  • Mucopolysaccharidosis Type IVA
    • Galactosamine-6-Sulfatase Deficiency
    • Galactosamine-6-Sulfate Sulfatase, Included
    • GALNS Deficiency
    • Morquio Syndrome A
    • MPS IVA
  • Mucopolysaccharidosis Type IVB
    • Morquio Syndrome B
    • MPS IVB
  • Mucopolysaccharidosis Type VI
    • Arsb Deficiency
    • Arylsulfatase B Deficiency
    • Maroteaux-Lamy Syndrome
    • N-Acetylgalactosamine-4-Sulfatase Deficiency
  • Mucopolysaccharidosis, Type IIIC
    • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
    • Sanfilippo Syndrome C
  • Mucopolysaccharidosis, Type IIID
    • N-Acetylglucosamine-6-Sulfatase Deficiency
    • Sanfilippo Syndrome D
  • Mucopolysaccharidosis, Type IX
  • Mucopolysaccharidosis, Type VII
    • Beta-Glucuronidase Deficiency
    • Gusb Deficiency
    • Sly Syndrome
  • Multiple Acyl-CoA Dehydrogenase Deficiency
    • Ethylmalonic-Adipicaciduria
    • GA II
    • Glutaric Acidemia II
    • Glutaric Aciduria II
  • Multiple Sulfatase Deficiency
    • Mucosulfatidosis
    • Sulfatidosis, Juvenile, Austin Type
  • Myoclonic Epilepsy Of Lafora
    • Epilepsy, Progressive Myoclonic 2A
    • Lafora Body Disease
    • Lafora Disease
  • N-Acetylaspartate Deficiency
  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • Neuraminidase Deficiency
    • Glycoprotein Neuraminidase Deficiency
    • Lipomucopolysaccharidosis
    • ML I
    • Mucolipidosis I
    • NEU Deficiency
    • NEU1 Deficiency
    • NEUG Deficiency
    • Neuraminidase 1 Deficiency
    • Sialidase Deficiency
    • Sialidosis, Type II
  • Neurodegeneration Due To Cerebral Folate Transport Deficiency
  • Neutropenia, Severe Congenital, 4, Autosomal Recessive
  • Niemann-Pick Disease, Type B
  • Niemann-Pick Disease, Type C1
    • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
    • Niemann-Pick Disease With Cholesterol Esterification Block
    • Niemann-Pick Disease Without Sphingomyelinase Deficiency
    • Niemann-Pick Disease, Chronic Neuronopathic Form
    • Niemann-Pick Disease, Nova Scotian Type, Included
    • Niemann-Pick Disease, Subacute Juvenile Form
    • Niemann-Pick Disease, Type C
    • Niemann-Pick Disease, Type D, Included
  • Niemann-Pick Disease, Type C2
  • Optic Atrophy 3, Autosomal Dominant
    • OPA3, Autosomal Dominant
    • Optic Atrophy And Cataract, Autosomal Dominant
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • Parkinsonism-Dystonia, Infantile
  • Peroxisomal Acyl-CoA Oxidase Deficiency
    • Pseudoneonatal Adrenoleukodystrophy
    • Straight-Chain Acyl-CoA Oxidase Deficiency
  • Peroxisome Biogenesis Disorder 10a (Zellweger)
  • Peroxisome Biogenesis Disorder 11a (Zellweger)
  • Peroxisome Biogenesis Disorder 11b
  • Peroxisome Biogenesis Disorder 12a (Zellweger)
  • Peroxisome Biogenesis Disorder 13a (Zellweger)
  • Peroxisome Biogenesis Disorder 1a (Zellweger)
    • Cerebrohepatorenal Syndrome
    • Zellweger syndrome
  • Peroxisome Biogenesis Disorder 1b
    • Infantile Phytanic Acid Storage Disease
    • Peroxisome Biogenesis Disorder (NALD/IRD)|Adrenoleukodystrophy, Autosomal Neonatal
    • Peroxisome Biogenesis Disorder (Neonatal Adrenoleukodystrophy/Infantile Refsum Disease)
    • Refsum Disease, Infantile
  • Peroxisome Biogenesis Disorder 2a (Zellweger)
  • Peroxisome Biogenesis Disorder 2b
  • Peroxisome Biogenesis Disorder 3b
  • Peroxisome Biogenesis Disorder 4a (Zellweger)
  • Peroxisome Biogenesis Disorder 4b
  • Peroxisome Biogenesis Disorder 5a (Zellweger)
  • Peroxisome Biogenesis Disorder 5b
  • Peroxisome Biogenesis Disorder 6a (Zellweger)
  • Peroxisome Biogenesis Disorder 6b
  • Peroxisome Biogenesis Disorder 7a (Zellweger)
  • Peroxisome Biogenesis Disorder 7b
  • Peroxisome Biogenesis Disorder 8a (Zellweger)
  • Peroxisome Biogenesis Disorder 8b
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Phenylketonuria
    • Folling Disease
    • Hyperphenylalaninemia, Mild, Included
    • Oligophrenia Phenylpyruvica
    • Pah Deficiency
    • Phenylalanine Hydroxylase Deficiency
    • Phenylalanine Hydroxylase, Included
    • Phenylalaninemia, Included
    • Pku
    • Pku1, Included
  • Phosphoglycerate Kinase 1 Deficiency
    • PGK1 Deficiency
  • Propionic Acidaemia
    • Glycinemia, Ketotic
    • Hyperglycinemia With Ketoacidosis And Leukopenia
    • Ketotic Hyperglycinemia
    • PCC Deficiency
    • Propionyl-CoA Carboxylase Deficiency
  • Pycnodysostosis
    • Pyknodysostosis
  • Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    • Chondrodysplasia Punctata, Rhizomelic Form
    • Chondrodystrophia Calcificans Punctata
  • Rhizomelic Chondrodysplasia Punctata, Type 2
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
  • Rhizomelic Chondrodysplasia Punctata, Type 3
    • Agps Deficiency
    • Alkyldihydroxyacetonephosphate Synthase Deficiency
    • Alkylglycerone-Phosphate Synthase Deficiency
  • Riboflavin Deficiency
  • Salla Disease
    • Sialuria, Finnish Type
  • Sandhoff Disease
    • Gm2-Gangliosidosis, Type II
    • Hexosaminidases A And B Deficiency
  • Schindler Disease, Type I
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type I
    • Naga Deficiency, Type I
    • Neuroaxonal Dystrophy, Schindler Type
  • Segawa Syndrome, Autosomal Recessive
    • Dopa-Responsive Dystonia, Autosomal Recessive
    • Dystonia, Dopa-Responsive, Autosomal Recessive
    • Parkinsonism, Infantile, Autosomal Recessive
    • Tyrosine Hydroxylase Deficiency, Included
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • Sialuria
  • Succinic Semialdehyde Dehydrogenase Deficiency
    • 4-Hydroxybutyric Aciduria
    • Gaba Metabolic Defect
    • Gamma-Hydroxybutyric Aciduria
    • Ssadh Deficiency
  • Succinyl-CoA:3-Oxoacid-CoA Transferase Deficiency
    • Ketoacidosis Due To SCOT Deficiency
    • SCOT Deficiency
    • Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency
    • Succinyl-CoA:Acetoacetate Transferase Deficiency
  • Sulfocysteinuria
    • Sulfite Oxidase Deficiency
  • Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
    • Basal Ganglia Disease, Biotin-Responsive
    • Encephalopathy, Thiamine-Responsive
  • Transcobalamin I
  • Transcobalamin II Deficiency
    • TC II DEFICIENCY|TCN2 DEFICIENCY
  • Tyrosinemia, Type I
    • Fah Deficiency
    • Fumarylacetoacetase Deficiency
    • Fumarylacetoacetase, Included
    • Fumarylacetoacetate Hydrolase, Included
    • Hepatorenal Tyrosinemia
    • Tyrosinaemia
  • Tyrosinemia, Type II
  • Tyrosinemia, Type III
    • 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
    • 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
  • 1,4-alpha-glucan branching enzyme 1
    • amylo-(1,4 to 1,6) transglucosidase
    • amylo-(1,4 to 1,6) transglycosylase
    • glucan (1,4-alpha-), branching enzyme 1
    • glycogen branching enzyme
  • 2,4-dienoyl-CoA reductase 1
    • 2,4-dienoyl-CoA reductase 1, mitochondrial
  • 24-dehydrocholesterol reductase
    • seladin-1
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2
    • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
  • 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • 3-oxoacid CoA transferase 1
  • 4-aminobutyrate aminotransferase
  • 4-hydroxyphenylpyruvate dioxygenase
  • 5-methyltetrahydrofolate-homocysteine methyltransferase
    • 5-methyltetrahydrofolate-homocysteine s-methyltransferase
    • methionine synthase
    • tetrahydropteroylglutamate methyltransferase
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • 6-pyruvoyltetrahydropterin synthase
  • acetyl-CoA acetyltransferase 1
  • acetyl-CoA acetyltransferase 2
  • acyl-CoA dehydrogenase family, member 9
  • acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    • acyl-coa dehydrogenase, medium-chain
    • acyl-coenzyme a dehydrogenase, c-4 to c-12 straight chain
    • medium-chain acyl-coa dehydrogenase
  • acyl-CoA dehydrogenase, very long chain
    • acyl-Coenzyme A dehydrogenase, very long chain
  • acyl-CoA oxidase 1
    • acyl-CoA oxidase 1, palmitoyl
  • acyl-CoA synthetase family member 3
  • adenosylhomocysteinase
  • alanine-glyoxylate aminotransferase
    • serine-pyruvate aminotransferase
  • aldehyde dehydrogenase 18 family, member A1
    • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
  • aldehyde dehydrogenase 5 family, member A1
  • aldehyde dehydrogenase 7 family, member A1
    • 26G turgor protein homolog
    • alpha aminoadipic semialdehyde dehydrogenase
    • alpha-AASA dehydrogenase
    • alpha-aminoadipic semialdehyde dehydrogenase
    • antiquitin 1
    • delta1-piperideine-6-carboxylate dehydrogenease
    • P6C dehydrogenase
  • aldolase, fructose-bisphosphate A
    • aldolase 1
    • aldolase A
    • aldolase A, fructose-bisphosphate
    • fructoaldolase A
    • fructose-1,6-bisphosphate aldolase A
  • alkylglycerone phosphate synthase
    • alkyldihydroxyacetonephosphate synthase
  • alpha-L-fucosidase 1
    • fucosidase, alpha-L- 1, tissue
  • alpha-methylacyl-CoA racemase
  • alpha-N-acetylgalactosaminidase
    • N-acetylgalactosaminidase, alpha
  • aminomethyltransferase
    • aminomethyltransferase (glycine cleavage system protein t)
    • glycine cleavage system t protein
    • mitochondrial glycine cleavage enzyme subunit t
  • amnion associated transmembrane protein
    • amnionless
  • amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    • amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
    • glycogen debranching enzyme
    • glycogen storage disease type III
  • arginase 1
    • arginase, liver
  • argininosuccinate lyase
    • argininosuccinase
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
  • arylsulfatase A
    • arylsulphatase A
    • cerebroside 3-sulfatase
    • cerebroside 3-sulphatase
    • cerebroside-sulfatase
    • cerebroside-sulphatase
  • arylsulfatase B
  • arylsulfatase G
  • aspartoacylase
    • aminoacylase 2
    • aspartoacylase
    • aspartoacylase (aminoacylase 2, canavan disease)
  • aspartylglucosaminidase
    • 0
  • ATP-binding cassette, sub-family D, member 1
    • adrenoleukodystrophy protein
    • ATP-binding cassette, sub-family D (ALD), member 1
  • ATP-binding cassette, sub-family D, member 4
  • AU RNA binding methylglutaconyl-CoA hydratase
    • AU RNA binding protein/enoyl-CoA hydratase
  • biotinidase
  • branched chain keto acid dehydrogenase E1, alpha polypeptide
  • branched chain keto acid dehydrogenase E1, beta polypeptide
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
  • carnitine palmitoyltransferase 1A
    • carnitine palmitoyltransferase 1A (liver)
  • carnitine palmitoyltransferase 2
    • carnitine palmitoyltransferase II
  • catalase
  • cathepsin A
    • protective protein for beta-galactosidase (galactosialidosis)
  • cathepsin D
  • cathepsin K
    • cathepsin K (pycnodysostosis)
  • CD320 molecule
    • 8D6 antigen
    • CD320 antigen
    • transcobalamin receptor
  • CLN3, battenin
    • batten, spielmeyer-vogt disease
    • battenin
    • ceroid-lipofuscinosis, neuronal 3
    • cln3 gene
    • juvenile neuronal ceroid lipofuscinosis
  • CLN5, intracellular trafficking protein
    • ceroid-lipofuscinosis, neuronal 5
  • CLN6, transmembrane ER protein
    • ceroid-lipofuscinosis, neuronal 6, late infantile, variant
    • CLN6 Gene
  • CLN8, transmembrane ER and ERGIC protein
    • ceroid-lipofuscinosis, neuronal 8
    • ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • cubilin
  • cystathionine gamma-lyase
  • cystathionine-beta-synthase
    • 0
  • cystinosin, lysosomal cystine transporter
    • cystinosin
    • cystinosis, nephropathic
  • D-2-hydroxyglutarate dehydrogenase
  • dihydrofolate reductase
  • dihydrofolate reductase 2
    • dihydrofolate reductase like 1
  • dihydrolipoamide branched chain transacylase E2
  • DNAJ (Hsp40) homolog, subfamily C, member 19
    • DnaJ heat shock protein family (Hsp40) member C19
  • DNAJ heat shock protein family (Hsp40) member C5
  • dopa decarboxylase
  • dopamine beta-hydroxylase
    • dopamine beta-hydroxylase (dopamine beta-monooxygenase)
  • dynamin 1-like
  • electron transfer flavoprotein alpha subunit
    • electron-transfer-flavoprotein, alpha polypeptide
    • electron-transfer-flavoprotein, alpha subunit
  • electron-transfer-flavoprotein dehydrogenase
    • electron-transferring-flavoprotein dehydrogenase
  • electron-transfer-flavoprotein, beta subunit
    • electron-transfer-flavoprotein, beta polypeptide
  • enolase 3
    • enolase 3
    • enolase 3
    • enolase 3 (beta, muscle)
    • enolase 3, (beta, muscle)
    • enolase, beta
    • enolase, muscle-specific
  • EPM2A, laforin glucan phosphatase
    • epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
    • epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
    • EPM2A gene
    • laforin
  • folate receptor 1
    • folate receptor
    • folate receptor 1 (adult)
    • folate receptor, alpha
    • folate-binding protein, adult
    • ovarian cancer-associated antigen
  • folate receptor 3
    • folate receptor 3 (gamma)
  • folate receptor beta
    • folate receptor 2 (fetal)
  • formimidoyltransferase cyclodeaminase
  • fructose-bisphosphatase 1
    • fructose-1,6-bisphosphatase 1
    • fructose-1,6-bisphosphatase, Liver
    • fructose-1,6-diphosphatase
  • fumarylacetoacetate hydrolase
    • fumarylacetoacetase
    • fumarylacetoacetate hydrolase (fumarylacetoacetase)
  • galactokinase 1
  • galactosamine (N-acetyl)-6-sulfate sulfatase
    • galactosamine-6-sulfatase deficiency
    • galactosamine-6-sulfate sulfatase, included
    • GALNS deficiency
    • morquio syndrome A
    • MPS IVa
    • mucopolysaccharidosis type IVa
  • galactose-1-phosphate uridylyltransferase
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • galactosidase, beta 1
    • elastin receptor 1 (67kD)
    • elastin receptor 1, 67kDa
  • galactosylceramidase
    • galactosylceramidase (krabbe disease)
  • gamma-aminobutyric acid type A receptor, gamma 2 subunit
    • GABA-A receptor, gamma-2 polypeptide
    • gamma-aminobutyric acid (GABA) A receptor, gamma 2
  • gastric intrinsic factor
  • glucosamine (N-acetyl)-6-sulfatase
  • glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • glucose-6-phosphatase, catalytic subunit
    • glucose-6-phosphatase, catalytic (glycogen storage disease type i, von gierke disease
    • glucose-6-phosphatase, catalytic, 1
  • glucose-6-phosphatase, catalytic subunit 3
    • glucose-6-phosphatase, catalytic, 3
  • glucosidase, alpha, acid
    • glycogen storage disease type II
    • pompe disease
  • glucosylceramidase beta
    • glucocerebrosidase
    • glucocerebrosidase beta
    • glucosidase, acid beta
    • glucosidase, beta, acid
    • glucosidase, beta; acid (includes glucosylceramidase)
  • glucuronidase, beta
  • glutamate dehydrogenase 1
    • glud
  • glutaryl-CoA dehydrogenase
    • glutaricaciduria i
    • glutaryl-coa dehydrogenase deficiency
    • glutaryl-coenzyme a dehydrogenase
  • glyceronephosphate o-acyltransferase
  • glycine cleavage system protein H
    • glycine cleavage system protein H (aminomethyl carrier)
  • glycine decarboxylase
    • GCSPNKH
    • glycine cleavage system p protein
    • glycine dehydrogenase
    • glycine dehydrogenase (decarboxylating)
    • glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p)
    • mitochondrial glycine cleavage enzyme subunit p
  • glycine N-methyltransferase
  • glycine receptor, alpha 1
    • glycine receptor, alpha 1 (startle disease/hyperekplexia)
    • glycine receptor, alpha-1 subunit
  • glycogen phosphorylase L
    • glycogen storage disease type VI
    • hers disease
    • phosphorylase, glycogen, liver
  • glycogen phosphorylase, muscle associated
    • myophosphorylase
    • phosphorylase, glycogen, muscle
  • glycogen synthase 1
    • glycogen synthase 1 (muscle)
  • glycogen synthase 2
    • glycogen synthase 2 (liver)
    • glycogen synthase, liver
    • liver glycogen synthase
  • glycogenin 1
    • glycogenin
  • GM2 ganglioside activator
  • GTP cyclohydrolase 1
    • dopa-responsive dystonia
    • gtp cyclohydrolase i
  • heparan-alpha-glucosaminide N-acetyltransferase
  • hexosaminidase subunit alpha
    • hexosaminidase a (alpha polypeptide)
  • hexosaminidase subunit beta
    • hexosaminidase b (beta polypeptide)
  • holocarboxylase synthetase
  • homogentisate 1,2-dioxygenase
  • host cell factor C1
  • hyaluronoglucosaminidase 1
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    • hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit
    • long-chain hydroxyacyl-coa dehydrogenase
    • mitochondrial trifunctional protein, alpha subunit
    • trifunctional protein, alpha subunit
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • hydroxysteroid 17-beta dehydrogenase 4
    • hydroxysteroid (17-beta) dehydrogenase 4
  • iduronate 2-sulphatase
    • hunter syndrome
    • ids deficiency
    • iduronate 2-sulfatase
    • iduronate 2-sulfatase deficiency
    • mucopolysaccharidosis type II
    • sids deficiency
    • sulfoiduronate sulfatase deficiency
  • iduronidase, alpha-l-
    • alpha-l-iduronidase
    • iduronidase, alpha-l
  • isovaleryl-CoA dehydrogenase
  • L-2-hydroxyglutarate dehydrogenase
  • lactate dehydrogenase A
    • IDH, subunit M
  • lipase A, lysosomal acid type
    • cholesterol ester hydrolase
    • lipase A, lysosomal acid, cholesterol esterase
    • lysosomal acid lipase
  • LMBR1 domain containing 1
    • chromosome 6 open reading frame 209
    • NES-interacting protein
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • major facilitator superfamily domain containing 8
    • ceroid-lipofuscinosis, neuronal 7, late infantile, variant
  • mannosidase, alpha, class 2B, member 1
  • mannosidase, beta
  • methionine adenosyltransferase 1A
  • methylcrotonoyl-CoA carboxylase 1
  • methylcrotonoyl-CoA carboxylase 2
  • methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
    • methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
  • methylenetetrahydrofolate reductase
    • 5,10-methylenetetrahydrofolate reductase (NADPH)
    • methylenetetrahydrofolate reductase (NAD(P)H)
  • methylmalonic aciduria (cobalamin deficiency) cblA type
    • methylmalonic aciduria (cobalamin deficiency) type A
    • MMAA gene
  • methylmalonic aciduria (cobalamin deficiency) cblB type
    • cob(i)alamin adenosyltransferase
    • methylmalonic aciduria (cobalamin deficiency) type B
    • MMAB gene
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonic aciduria and homocystinuria, cblD type
    • chromosome 2 open reading frame 25
    • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • MMADHC gene
  • methylmalonyl CoA epimerase
    • methylmalonyl-CoA racemase
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • monoamine oxidase A
  • mucolipin 1
  • N-acetyl-alpha-glucosaminidase
    • N-acetylglucosaminidase, alpha
    • sanfilippo disease IIIB
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits
  • N-acetylglutamate synthase
  • N-acetyltransferase 8 like
  • N-acylsphingosine amidohydrolase 1
    • N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • N-sulfoglucosamine sulfohydrolase
    • heparan sulfate sulfatase
    • heparan sulphate sulphatase
    • mucopolysaccharidosis type IIIA
    • N-sulfoglucosamine sulfohydrolase
    • N-sulphoglucosamine sulphohydrolase
    • sulfamidase
    • sulphamidase
  • NHL repeat containing E3 ubiquitin protein ligase 1
    • EPM2B gene
    • malin
    • NHL repeat containing 1
    • NHL repeat-containing 1 gene
  • NPC intracellular cholesterol transporter 1
    • neurovisceral storage disease with vertical supranuclear ophthalmoplegia
    • niemann-pick disease with cholesterol esterification block
    • niemann-pick disease without sphingomyelinase deficiency
    • niemann-pick disease, chronic neuronopathic form
    • niemann-pick disease, nova scotian type, included
    • niemann-pick disease, subacute juvenile form
    • niemann-pick disease, type C
    • Niemann-Pick disease, type C1
    • niemann-pick disease, type D, included
  • NPC intracellular cholesterol transporter 2
    • Niemann-Pick disease, type C2
  • OPA3, outer mitochondrial membrane lipid metabolism regulator
    • optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • ornithine aminotransferase
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
  • palmitoyl-protein thioesterase 1
    • ceroid-lipofuscinosis, neuronal 1, infantile
    • palmitoyl-protein thioesterase
    • palmitoyl-protein thioesterase 1
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 10
    • peroxin 10
  • peroxisomal biogenesis factor 12
    • peroxin 12
  • peroxisomal biogenesis factor 13
    • peroxisome biogenesis factor 13
  • peroxisomal biogenesis factor 14
  • peroxisomal biogenesis factor 16
  • peroxisomal biogenesis factor 19
  • peroxisomal biogenesis factor 2
    • peroxisomal membrane protein 3 (35kD, Zellweger syndrome)
    • peroxisomal membrane protein 3, 35kDa
  • peroxisomal biogenesis factor 26
    • peroxin 26
    • peroxisome biogenesis factor 26
  • peroxisomal biogenesis factor 3
  • peroxisomal biogenesis factor 5
  • peroxisomal biogenesis factor 6
    • peroxin 6
    • peroxisomal assembly factor 2
    • peroxisomal-type ATPase 1
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • phenylalanine hydroxylase
    • folling disease
    • hyperphenylalaninemia, mild, included
    • oligophrenia phenylpyruvica
    • pah deficiency
    • phenylalanine hydroxylase deficiency
    • phenylalanine hydroxylase, included
    • phenylalaninemia, included
    • phenylketonuria
    • pku
    • pku1, included
  • phosphofructokinase, muscle
    • PFK, muscle type
    • phosphofructokinase, polypeptide x
  • phosphoglucomutase 1
  • phosphoglycerate kinase 1
    • 3-phosphoglycerokinase
  • phosphorylase kinase regulatory subunit, alpha 1
    • phosphorylase kinase, muscle, alpha-1 subunit
    • phosphorylase kinase, alpha 1 (muscle)
  • phosphorylase kinase regulatory subunit, alpha 2
    • phosphorylase kinase, alpha 2 (liver)
  • phosphorylase kinase regulatory subunit, beta
    • phosphorylase kinase, beta
  • phosphorylase kinase regulatory subunit, gamma 1
    • phosphorylase kinase, gamma 1 (muscle)
  • phosphorylase kinase regulatory subunit, gamma 2
    • phosphorylase kinase, gamma 2 (testis)
    • phosphorylase kinase, testis/liver, gamma-2
  • phytanoyl-CoA 2-hydroxylase
    • phytanoyl-CoA hydroxylase
    • phytanoyl-CoA hydroxylase (Refsum disease)
  • propionyl-CoA carboxylase, alpha subunit
    • pccA complementation group
    • propionyl Coenzyme A carboxylase, alpha polypeptide
  • propionyl-CoA carboxylase, beta subunit
    • propionyl Coenzyme A carboxylase, beta polypeptide
  • prosaposin
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • protein phosphatase, Mg2+/Mn2+ dependent 1K
  • pterin-4 alpha-carbinolamine dehydratase 1
  • pyridoxamine 5'-phosphate oxidase
  • quinoid dihydropteridine reductase
  • sepiapterin reductase
    • sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • serine active site containing 1
  • sialidase 1 (lysosomal sialidase)
    • sialidase 1
    • sialidase, lysosomal
  • solute carrier family 17 member 5
  • solute carrier family 19 member 3
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
  • solute carrier family 2 member 2
    • glucose transporter 2
    • glucose transporter, liver/islet
    • solute carrier family 2 (facilitated glucose transporter) member 2
  • solute carrier family 22 member 5
    • solute carrier family 22 (organic cation/carnitine transporter) member 5
  • solute carrier family 25 member 13
    • citrin
    • mitochondrial aspartate glutamate carrier 2
    • solute carrier family 25 (aspartate/glutamate carrier) member 13
    • solute carrier family 25, member 13 (citrin)
  • solute carrier family 25 member 15
    • ornithine transporter, mitochondrial, 1
    • solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • solute carrier family 25 member 20
    • cact deficiency, included
    • carnitine-acylcarnitine carrier
    • carnitine-acylcarnitine translocase
    • carnitine-acylcarnitine translocase deficiency, included
    • solute carrier family 25 (carnitine/acylcarnitine translocase) member 20
  • solute carrier family 25 member 22
    • glutamate carrier 1
    • solute carrier family 25 (mitochondrial carrier: glutamate) member 22
  • solute carrier family 3 member 1
    • solute carrier family 3 (cystine, dibasic and neutral amino acid transporter) member 1
  • solute carrier family 36 member 2
    • tramdorin
  • solute carrier family 37 member 4
    • g6p translocase
    • glucose-6-phosphate translocase
    • glucose-6-phosphate transporter 1
    • GSD1b
    • GSD1c
    • GSD1d
    • solute carrier family 37 (glucose-6-phosphate transporter) member 4
    • solute carrier family 37 (glycerol-6-phosphate transporter), member 4
  • solute carrier family 46 member 1
  • solute carrier family 52 member 1
    • G protein-coupled receptor 172B
    • G protein-coupled receptor 42
    • PERV-A receptor 2
    • porcine endogenous retrovirus, subgroup A, receptor 2
    • riboflavin transporter 1
    • solute carrier family 52 (riboflavin transporter), member 1
    • solute carrier family 52, riboflavin transporter, member 1
  • solute carrier family 52 member 2
    • G protein-coupled receptor 172A
    • PERV-A receptor 1
    • porcine endogenous retrovirus, subgroup A, receptor 1
    • riboflavin transporter 3
    • solute carrier family 52 (riboflavin transporter), member 2
    • solute carrier family 52, riboflavin transporter, member 2
  • solute carrier family 52 member 3
    • chromosome 20 open reading frame 54
    • riboflavin transporter 2
    • solute carrier family 52 (riboflavin transporter), member 3
    • solute carrier family 52, riboflavin transporter, member 3
  • solute carrier family 6 member 19
  • solute carrier family 7 member 7
    • solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • solute carrier family 7 member 9
    • solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
  • sphingomyelin phosphodiesterase 1
  • succinate-CoA ligase, ADP-forming, beta subunit
    • a-beta
    • ATP-specific succinyl-CoA synthetase, beta subunit
  • succinate-CoA ligase, alpha subunit
    • g-alpha
    • succinate-CoA ligase, ADP-forming, alpha subunit
    • succinate-CoA ligase, GDP-forming, alpha subunit
  • sulfatase modifying factor 1
  • sulfite oxidase
  • tafazzin
    • (cardiomyopathy, dilated 3a (x-linked)
    • barth syndrome
    • endocardial fibroelastosis 2
  • transcobalamin 1
  • transcobalamin 2
  • transmembrane protein 70
  • tripeptidyl peptidase 1
    • cln2 gene
  • tyrosine aminotransferase
  • tyrosine hydroxylase
  • UDP-galactose-4-epimerase
2015

Filters

Search filters