Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEpilepsy (D004827)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandKyphosis (D007738)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandCoffin syndrome 1 (C536435)

       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:2463
Name:Coffin syndrome 1
Definition:
Alternative IDs:
ParentIDs:MESH:D004827|MESH:D006130|MESH:D007738|MESH:D008607|MESH:D012600
TreeNumbers:C05.116.900.800.500/C536435 |C05.116.900.800.875/C536435 |C10.228.140.490/C536435 |C10.597.606.643/C536435 |C23.550.393/C536435 |C23.888.592.604.646/C536435 |F03.550.600/C536435
Synonyms:Dwarfism, lean spastic type |Lean spastic dwarfism
Slim Mappings:Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C536435
MeSH: C536435
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants