Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Ataxia (D001259)
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Cerebral Palsy (D002547)
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Genetic Diseases, Inborn (D030342)
..Starting node
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Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)

       Child Nodes:



 Sister Nodes: 
..expandACTH Deficiency, Isolated (C562707)
..expandAdrenal Hyperplasia, Congenital (D000312) Child12
..expandAdrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..expandAlagille Syndrome (D016738)
..expandalpha 1-Antitrypsin Deficiency (D019896) Child1
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..expandAnemia, Hypoplastic, Congenital (D029502) Child27
..expandAngioedemas, Hereditary (D054179) Child2
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..expandAtrial Standstill (C563984)
..expandAutoimmune Lymphoproliferative Syndrome (D056735) Child5
..expandBlood Coagulation Disorders, Inherited (D025861) Child70
..expandBrugada Syndrome (D053840) Child9
..expandCADASIL (D046589) Child1
..expandCamurati-Engelmann Syndrome (D003966) Child4
..expandCardiomyopathy, Hypertrophic, Familial (D024741) Child15
..expandCerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..expandCHARGE Syndrome (D058747)
..expandCherubism (D002636) Child2
..expandChromosome Disorders (D025063) Child160
..expandCirrhosis, Familial (C566123)
..expandComplement Factor I Deficiency (C572568)
..expandCorticosteroid-Binding Globulin Deficiency (C565152)
..expandCostello Syndrome (D056685)
..expandCryoglobulinemia, Familial Mixed (C565141)
..expandCystic Fibrosis (D003550) Child4
..expandDonohue Syndrome (D056731) Child1
..expandDwarfism (D004392) Child155
..expandEpistaxis, Hereditary (C562751)
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..expandFrasier Syndrome (D052159)
..expandGenetic Diseases, X-Linked (D040181) Child412
..expandGenetic Diseases, Y-Linked (D050174) Child5
..expandHajdu-Cheney Syndrome (D031845) Child1
..expandHemoglobinopathies (D006453) Child23
..expandHepatic Fibrosis, Congenital (C562378)
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..expandHereditary Myopathy with Early Respiratory Failure (C566343)
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..expandHistiocytosis, Familial Lipochrome (C562738)
..expandHyper-IgM Immunodeficiency Syndrome (D053306) Child3
..expandHyperthyroxinemia, Familial Dysalbuminemic (D050010) Child1
..expandInterstitial Pneumonitis, Desquamative, Familial (C562470)
..expandKallmann Syndrome (D017436) Child9
..expandKartagener Syndrome (D007619) Child6
..expandLennox Gastaut Syndrome (D065768) Child1
..expandLoeys-Dietz Syndrome (D055947) Child5
..expandMarfan Syndrome (D008382) Child9
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..expandMuscular Dystrophies (D009136) Child117
..expandMyasthenic Syndromes, Congenital (D020294) Child15
..expandNail-Patella Syndrome (D009261) Child1
..expandNeoplastic Syndromes, Hereditary (D009386) Child111
..expandNeutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..expandOsteoarthropathy, Primary Hypertrophic (D010004) Child2
..expandOsteogenesis Imperfecta (D010013) Child27
..expandPain Insensitivity, Congenital (D000699) Child2
..expandParotidomegaly, Hereditary Bilateral (C566821)
..expandPelger-Huet Anomaly (D010381)
..expandPlatelet Glycoprotein IV Deficiency (C564245)
..expandPolycystic Kidney, Autosomal Recessive (D017044) Child3
..expandProlactin Deficiency, Isolated (C562708)
..expandPulmonary Alveolar Microlithiasis (C562405)
..expandPycnodysostosis (D058631)
..expandRh Deficiency Syndrome (C562717)
..expandSkin Diseases, Genetic (D012873) Child462
..expandWeill-Marchesani Syndrome (D056846)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1948
Name:Cerebral Palsy, Ataxic, Autosomal Recessive
Definition:
Alternative IDs:OMIM:605388
ParentIDs:MESH:D001259|MESH:D002547|MESH:D030342
TreeNumbers:C10.228.140.140.254/C562856 |C10.597.350.090/C562856 |C16.320/C562856 |C23.888.592.350.090/C562856
Synonyms:ACP |Ataxic Cerebral Palsy
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C562856
MeSH: C562856
OMIM: 605388;

Genes: CPAT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0002136Broad-based gait
4 HP:0001272Cerebellar atrophy
5 HP:0100021Cerebral palsy
6 HP:0001260Dysarthria
7 HP:0002075Dysdiadochokinesis
8 HP:0000666Horizontal nystagmus
9 HP:0001270Motor delay
Disease Causing ClinVar Variants