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Term:
glycogen storage disease IX (DOID:0050594)
Annotations: Rat: (4) Mouse: (4) Human: (7) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Growth Disorders +     
liver disease +     
Muscle Hypotonia +     
3-M syndrome +   
3p deletion 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  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Alcoholic Liver Diseases +   
Allan-Herndon-Dudley syndrome  
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
Aphalangia Syndactyly Microcephaly 
Atonic-Astatic Syndrome of Foerster 
Auriculoosteodysplasia 
autosomal dominant mental retardation 20  
Ayme-Gripp syndrome  
Bainbridge-Ropers Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Budd-Chiari syndrome +   
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
capillariasis 
Carnitine Acetyltransferase Deficiency  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Chitty Hall Baraitser Syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Clark-Baraitser syndrome  
clonorchiasis  
COACH syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital disorder of glycosylation It  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Daish Hardman Lamont Syndrome 
Danon disease  
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Devriendt syndrome 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
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  
Emanuel Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Ethanolaminosis 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
familial chylomicronemia syndrome +   
familial combined hyperlipidemia +   
familial hypercholesterolemia +   
Familial Osteochondritis Dissecans  
fatty liver disease +   
Fetal Growth Retardation +   
FG syndrome +   
Filippi Syndrome  
Floating-Harbor syndrome  
Focal Nodular Hyperplasia 
Forsythe-Wakeling Syndrome 
Frias Syndrome 
fumarase deficiency  
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
German Syndrome 
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IX +   
A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature 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 
Grubben de Cock Borghgraef Syndrome 
GSD IV, Nonprogressive Hepatic 
Hairy Elbows  
Heme Oxygenase 1 Deficiency  
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypercholesterolemia +   
hyperlipoproteinemia type V  
Hyperlipoproteinemias +   
Hypertriglyceridemia +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
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 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
INTERSTITIAL LUNG AND LIVER DISEASE  
intrahepatic cholestasis +   
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Ketoadipicaciduria 
Kilquist Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
lethal congenital glycogen storage disease of heart  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
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 +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
mitochondrial DNA depletion syndrome 6  
Mitochondrial Myopathy with Lactic Acidosis  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Ogden syndrome  
Omodysplasia 1  
Onat Syndrome 
opisthorchiasis  
Osteolysis Syndrome, Recessive 
Osteosclerotic Metaphyseal Dysplasia  
paragonimiasis 
Parasitic Liver Diseases +   
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
peliosis hepatis  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Phosphoenolpyruvate Carboxykinase Deficiency +   
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
polycystic echinococcosis 
polycystic liver disease +   
Polydysspondyly 
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL  
portal hypertension +   
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Pseudo-TORCH Syndrome 2  
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinohepatoendocrinologic Syndrome 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
scalp-ear-nipple 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  
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  
SHOX-related short stature  
SIDDIQI SYNDROME  
Silver-Russell Syndrome 3  
Slavotinek Pike Mills Hurst Syndrome 
Snijders Blok-Fisher Syndrome  
Sonoda Syndrome 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
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 
Tonoki Syndrome 
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
tyrosinemia type II  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
visceral leishmaniasis  
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wilson disease +   
Winchester syndrome  
Wittwer Syndrome  
Young Hughes Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: Gsd Ix ;   Gsdix ;   Phk Deficiency ;   Phosphorylase B Kinase Deficiency ;   Phosphorylase Kinase Deficiency
Primary IDs: MESH:C580130 ;   RDO:0015892
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17689125 "DO"

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