Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
pseudoxanthoma elasticum (inherited or acquired) (EFO:MONDO:0024308)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
ANE syndrome 
autosomal dominant deafness - onychodystrophy syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
breast fibrocystic disease +   
breast neoplasm +   
cutaneous mycosis +   
cutis laxa +  
disorder of pilosebaceous unit +   
familial atypical multiple mole melanoma syndrome 
familial tumoral calcinosis +  
frontonasal dysplasia with alopecia and genital anomaly 
ichthyosis prematurity syndrome 
integumentary system benign neoplasm +   
integumentary system cancer +   
keratinization disease +   
keratoderma hereditarium mutilans 
mandibulofacial dysostosis with alopecia 
mucosulfatidosis 
nail disorder +   
Neu-Laxova syndrome +  
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
Proteus-like syndrome 
pseudoxanthoma elasticum (inherited or acquired) +  
An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.
Rombo syndrome 
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
subcutaneous tissue disorder +   
X-linked ichthyosis syndrome +  

Synonyms
Exact Synonyms: PXE ;   http://identifiers.org/medgen/18733 ;   http://identifiers.org/snomedct/252246005 ;   http://linkedlifedata.com/resource/umls/id/C0033847 ;   pseudoxanthoma elasticum
Alternate IDs: MONDO:0024308
Xrefs: ICD9:757.39 ;   MEDGEN:18733 ;   NANDO:1200643 ;   SCTID:252246005 ;   UMLS:C0033847
External Ontologys: disease_has_location EFO:GO:0071953
see_also: https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643
Definition Sources: GARD:0009643

paths to the root