Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandEpilepsies, Partial (D004828)
Parent Node:
expandMalformations of Cortical Development (D054220)
..Starting node
..expandPitt-Hopkins-Like Syndrome 1 (C567657)

       Child Nodes:



 Sister Nodes: 
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandCK SYNDROME (OMIM:300831)
..expandCortical Dysplasia of Taylor without Balloon Cells (C564583)
..expandCortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..expandCuratolo Cilio Pessagno syndrome (C536701)
..expandFamilial schizencephaly (C538514)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandMalformations of Cortical Development, Group I (D065703) Child172
..expandMalformations of Cortical Development, Group II (D054081) Child35
..expandMalformations of Cortical Development, Group III (D065704) Child4
..expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMuller Barth Menger syndrome (C537370)
..expandNon-lissencephalic cortical dysplasia (C536243)
..expandPerisylvian syndrome (C536658)
..expandPitt-Hopkins-Like Syndrome 1 (C567657)
..expandPolymicrogyria With Optic Nerve Hypoplasia (C567715)
..expandPolymicrogyria, Asymmetric (C567658)
..expandPolymicrogyria, Bilateral Frontoparietal (C564652)
..expandPolymicrogyria, Bilateral Occipital (C567201)
..expandPOLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8953
Name:Pitt-Hopkins-Like Syndrome 1
Definition:
Alternative IDs:
ParentIDs:MESH:D004828|MESH:D019465|MESH:D054220
TreeNumbers:C05.660.207/C567657 |C10.228.140.490.360/C567657 |C10.500.507/C567657 |C16.131.621.207/C567657 |C16.131.666.507/C567657
Synonyms:PTHSL1
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C567657
MeSH: C567657
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants