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Term:
Mitochondrial Myopathy with Lactic Acidosis (DOID:9002494)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cortical deafness +     
Growth Disorders +     
lactic acidosis +     
3p- syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Aphalangia Syndactyly Microcephaly 
Auditory Neuropathy +   
Auriculoosteodysplasia 
autosomal dominant auditory neuropathy 1  
autosomal recessive nonsyndromic deafness 51 
autosomal recessive nonsyndromic deafness 55 
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Charcot-Marie-Tooth disease X-linked recessive 5  
Chitty Hall Baraitser Syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chronic progressive external ophthalmoplegia +   
Clark-Baraitser Syndrome 
CODAS syndrome  
Coffin Syndrome 1 
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 3  
Congenital Infantile Lactic Acidosis +   
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 
Deafness, Nephritis, Anorectal Malformation 
Deafness, Neural, Congenital Moderate 
Deafness, Neurosensory, Autosomal Recessive 47 
deafness-dystonia-optic neuronopathy syndrome  
Dermoids of Cornea 
Devriendt syndrome 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Familial Osteochondritis Dissecans  
Fetal Growth Retardation +   
Filippi Syndrome  
Floating-Harbor syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
GRACILE syndrome  
Groll Hirschowitz Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
hypoparathyroidism-retardation-dysmorphism syndrome  
Idiopathic Short Stature, X-Linked  
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Lactic Acidosis, Chronic Adult Form 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myopathy with Lactic Acidosis, Hereditary  
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
NARP syndrome  
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Ogden syndrome  
Omodysplasia 1  
Onat Syndrome 
Osteolysis Syndrome Recessive 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
PSPH deficiency  
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Syndrome  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Ruzicka Goerz Anton syndrome 
Santos Mateus Leal Syndrome 
Say Meyer Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SIDDIQI SYNDROME  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Stern Lubinsky Durrie Syndrome 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
TATTON-BROWN-RAHMAN SYNDROME  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tonoki Syndrome 
Tricarboxylic Acid Cycle, Defect of 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Wittwer Syndrome 
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: MMLA
Narrow Synonyms: EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
Primary IDs: MESH:C537476 ;   RDO:0003321
Alternate IDs: OMIM:251950

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.