BTD - biotinidase Gene

Late-Onset Multiple Carboxylase Deficiency

BTD DEFICIENCY

Multiple Carboxylase Deficiency, Late-Onset

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Biotin Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Deficiency Of Biotinidase

Biot

Carboxylase Deficiency, Multiple, Late-Onset

Late-Onset Mcd

Mcd Juvenile Form

Biotin Deficiency Disease

Biotin Deficiency Disease

B7 Deficiency

Biotan Vitamin Deficiency

Mcd

Holocarboxylase Synthetase Deficiency

HLCS DEFICIENCY

Early-Onset Multiple Carboxylase Deficiency

Biotin- Ligase Deficiency

Neonatal Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Neonatal Form

Multiple Carboxylase Deficiency, Early Onset

Multiple Carboxylase Deficiency - Neonatal Onset

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Combined Carboxylase Deficiency

Infantile Multiple Carboxylase Deficiency

Biotin-Responsive Mcd

Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Mcd

Mcd Neonatal Form

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Eczema

Skin Inflammation

Inflammatory Dermatosis

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Mcad Deficiency

Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Acadm Deficiency

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

Medium Chain Acyl-Coa Dehydrogenase Deficiency

ACADMD

Mcadh Deficiency

Mcadd

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase Medium-Chain Deficiency

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Medium Chain Acyl Dehydrogenase Deficiency

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Cerebral Palsy, Mixed

Hemoglobinopathies

Guanidinoacetate Methyltransferase Deficiency

Gamt Deficiency

Creatine Deficiency Syndrome Due To Gamt Deficiency

Deficiency Of Guanidinoacetate Methyltransferase

CCDS2

Guanidinoacetate Methyltransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 2

Language Development Disorders

Biotin-Responsive Basal Ganglia Disease

Basal Ganglia Disease, Biotin-Responsive

THMD2

Bbgd

Btbgd

Encephalopathy, Thiamine-Responsive

Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

Thiamine-Responsive Encephalopathy

Deficiency, Cerebral Creatine, Syndrome

Pnpo Deficiency

Pyridoxamine 5'-Phosphate Oxidase Deficiency

Pnpo-Related Neonatal Epileptic Encephalopathy

Pyridoxal Phosphate-Responsive Seizures

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Pyridoxine-5'-Phosphate Oxidase Deficiency

PNPOD

Seizures, Pyridoxine-Resistant, Plp-Sensitive

Pyridoxal Phosphate-Dependent Seizures

Pyridoxamine 5'-Oxidase Deficiency

Epileptic Encephalopathy, Neonatal, Pnpo-Related

Pyridox Ine 5'-Phosphate Oxidase Deficiency

Deficiency, Pyridoxamine 5'-Phosphate Oxidase

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Psat Deficiency

PSATD

Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

Psat Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Aminotransferase

Arginine:Glycine Amidinotransferase Deficiency

Agat Deficiency

Gatm Deficiency

Creatine Deficiency Syndrome Due To Agat Deficiency

L-Arginine:Glycine Amidinotransferase Deficiency

CCDS3

L-Arginine:Glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

MOCODA

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A

Molybdenum Cofactor Deficiency A

Molybdenum Cofactor Deficiency Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A

Mocod Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of

Molybdenum Cofactor Deficiency Complementation Group A

Molybdenum Cofactor Deficiency, Type A

Deficiency, Molybdenum Cofactor, Complementation Group A

Metabolic Syndrome X

Metabolic Syndrome

AOMS1

Dysmetabolic Syndrome X

Metabolic Disease

Abdominal Obesity Metabolic Syndrome

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

Acidosis, Lactic

Acidosis Lactic

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile