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:
expandAlopecia (D000505)
Parent Node:
expandAnodontia (D000848)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4835
Name:Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D000848|MESH:D006130|MESH:D015418
TreeNumbers:C07.650.800.100/C535642 |C07.793.700.100/C535642 |C10.292.700.225.500/C535642 |C10.574.500.662/C535642 |C11.270.564/C535642 |C11.640.451.451/C535642 |C16.131.850.800.100/C535642 |C16.320.290.564/C535642 |C16.320.400.630/C535642 |C17.800.329.937.122/C535642 |C23.30
Synonyms:Gapo Syndrome |Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy |Odontotrichomelic Syndrome |Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Skin disease
Reference: MedGen: C535642
MeSH: C535642
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants