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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Arachnoid Cysts (D016080)
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Intellectual Disability (D008607)
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Lissencephaly (D054082)
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Seizures (D012640)
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PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8500
Name:PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D012640|MESH:D016080|MESH:D054082
TreeNumbers:C04.182.044/600176 |C04.588.614.250.387.100/600176 |C10.228.140.490.631/600176 |C10.500.142.100/600176 |C10.500.507.450.499/600176 |C10.551.240.375.100/600176 |C10.597.606.643/600176 |C10.597.742/600176 |C16.131.666.142.100/600176 |C16.131.666.507.450.499/600176 |
Synonyms:PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
Slim Mappings:Cancer|Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: 600176
MeSH: 600176
OMIM: 600176;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000924Abnormality of the skeletal system
3 HP:0100702Arachnoid cyst
4 HP:0007270Atypical absence seizure
5 HP:0002069Bilateral tonic-clonic seizure
6 HP:0001263Global developmental delay
7 HP:0001249Intellectual disability
8 HP:0001302Pachygyria
9 HP:0007069Profound static encephalopathy
Disease Causing ClinVar Variants