LONP1 - lon peptidase 1, mitochondrial Gene

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Oriental Spotted Fever

Rickettsia Japonica Spotted Fever

Cmt4x

Cmtx4

Cowchock Syndrome

X-Linked Charcot-Marie-Tooth Disease Type 4

Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation

Charcot-Marie-Tooth Disease With Deafness And Mental Retardation

Nadmr

Namsd

Glossopharyngeal Nerve Diseases

Hypertrophic Cardiomyopathy 16

CMH16

Cardiomyopathy, Hypertrophic, 16

Cardiomyopathy Familial Hypertrophic 16

Cardiomyopathy, Familial Hypertrophic 16

Cardiomyopathy, Hypertrophic, Familial, Type 16

Hypertrophic Cardiomyopathy 18

CMH18

Cardiomyopathy, Hypertrophic, 18

Cardiomyopathy Familial Hypertrophic 18

Cardiomyopathy, Familial Hypertrophic 18

Cardiomyopathy, Hypertrophic, Familial, Type 18

Hypertrophic Cardiomyopathy 17

CMH17

Cardiomyopathy, Hypertrophic, 17

Cardiomyopathy Familial Hypertrophic 17

Cardiomyopathy, Familial Hypertrophic 17

Cardiomyopathy, Hypertrophic, Familial, Type 17

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Mitochondrial Hsp60 Chaperonopathy

Hypomyelinating Leukodystrophy 4

HLD4

Mitchap60 Disease

Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation

Mitchap-60 Disease

Leukodystrophy, Hypomyelinating, Type 4

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy