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:
expandAlopecia (D000505)
Parent Node:
expandCleft Palate (D002972)
Parent Node:
expandRetrognathia (D063173)
Parent Node:
expandRothmund-Thomson Syndrome (D011038)
..Starting node
..expandPARC syndrome (C537174)

       Child Nodes:



 Sister Nodes: 
..expandNavajo poikiloderma (C538345)
..expandPARC syndrome (C537174)
..expandRapadilino syndrome (C535288)
..expandSkeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris (C564819)
..expandSpastic paraplegia neuropathy poikiloderma (C536870)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8640
Name:PARC syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D002972|MESH:D011038|MESH:D063173
TreeNumbers:C05.500.460.185/C537174 |C05.500.460.827/C537174 |C05.660.207.540.460.185/C537174 |C05.660.207.540.460.827/C537174 |C07.320.440.185/C537174 |C07.320.440.827/C537174 |C07.320.610.827/C537174 |C07.465.525.185/C537174 |C07.650.500.460.185/C537174 |C07.650.500.460.82
Synonyms:Poikiloderma, Alopecia, Retrognathism, and Cleft palate
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C537174
MeSH: C537174
OMIM: 600331;

Genes:
Phenotypes
1 HP:0002223Absent eyebrowHP:0040284
2 HP:0000561Absent eyelashesHP:0040284
3 HP:0001596AlopeciaHP:0040284
4 HP:0000175Cleft palateHP:0040284
5 HP:0000308MicroretrognathiaHP:0040284
6 HP:0001029PoikilodermaHP:0040284
Disease Causing ClinVar Variants