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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandCleft Lip (D002971)
Parent Node:
expandCleft Palate (D002972)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandPilotto syndrome (C537400)

       Child Nodes:



 Sister Nodes: 
..expandAcrodysplasia scoliosis (C538180)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCoffin syndrome 1 (C536435)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..expandIida Kannari syndrome (C536284)
..expandKyphoscoliosis 1 (C565711)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandParastremmatic dwarfism (C537172)
..expandPilotto syndrome (C537400)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRigid spine syndrome (C535683)
..expandScoliosis, Arachnodactyly, And Blindness (C567309)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..expandShprintzen omphalocele syndrome (C537329)
..expandSpondylocarpotarsal synostosis (C535780)
..expandTsukahara Syndrome (C566376)
..expandWaaler Aarskog syndrome (C536461)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8945
Name:Pilotto syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002971|MESH:D002972|MESH:D006130|MESH:D006330|MESH:D008607|MESH:D012600
TreeNumbers:C05.116.900.800.875/C537400 |C05.500.460.185/C537400 |C05.660.207.540.460.185/C537400 |C07.320.440.185/C537400 |C07.465.409.225/C537400 |C07.465.525.164/C537400 |C07.465.525.185/C537400 |C07.650.500.460.185/C537400 |C07.650.525.164/C537400 |C07.650.525.185/C53740
Synonyms:Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C537400
MeSH: C537400
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants