Send us a Message



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

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
abdominal wall malformation +  
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
ANE syndrome 
angioosteohypertrophic syndrome 
ankyloblepharon filiforme-imperforate anus syndrome 
anotia 
autosomal dominant deafness - onychodystrophy syndrome 
Barber-Say syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
Becker nevus syndrome +  
blindness - scoliosis - arachnodactyly syndrome 
bone fragility with contractures, arterial rupture, and deafness 
breast fibrocystic disease +   
breast neoplasm +   
central nervous system malformation +  
cleft palate +  
congenital anomaly of kidney and urinary tract +  
congenital limb malformation +   
cutaneous mycosis +   
cutis laxa +  
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
cutis laxa - Marfanoid syndrome 
cysts and fistulae of the face and oral cavity +  
Desbuquois dysplasia +  
developmental anomaly of metabolic origin +  
developmental defect of the eye +   
digestive tract malformation +  
disorder of pilosebaceous unit +   
disorder of sexual differentiation +  
Ehlers-Danlos syndrome +  
facial cleft +  
familial atypical multiple mole melanoma syndrome 
familial tumoral calcinosis +  
focal dermal hypoplasia 
frontonasal dysplasia with alopecia and genital anomaly 
hemihyperplasia-multiple lipomatosis syndrome 
hereditary hemorrhagic telangiectasia +  
hereditary neurocutaneous angioma 
hydrops fetalis +  
ichthyosis prematurity syndrome 
infectious embryofetopathy +  
integumentary system benign neoplasm +   
integumentary system cancer +   
joint laxity, short stature, and myopia 
keratinization disease +   
keratoderma hereditarium mutilans 
Larsen syndrome 
Legius syndrome 
lethal Larsen-like syndrome 
linear nevus sebaceous syndrome 
macroglossia +  
Maffucci syndrome 
mandibulofacial dysostosis with alopecia 
marfanoid habitus-inguinal hernia-advanced bone age syndrome 
microtia 
mucosulfatidosis 
multiple congenital anomalies/dysmorphic syndrome +   
nail disorder +   
Neu-Laxova syndrome +  
neurofibromatosis type 1 +  
neurofibromatosis-Noonan syndrome +  
nevoid basal cell carcinoma syndrome 
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
phakomatosis pigmentokeratotica 
phakomatosis pigmentovascularis +  
progeroid syndrome +  
Proteus-like syndrome 
pseudodiastrophic dysplasia 
pseudoxanthoma elasticum (inherited or acquired) +  
PTEN hamartoma tumor syndrome +  
Rombo syndrome 
schwannomatosis 
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
subcutaneous tissue disorder +   
tarsal kink syndrome 
toxic or drug-related embryofetopathy +  
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +  
urogenital tract malformation +   
X-linked ichthyosis syndrome +  

Synonyms
Exact Synonyms: DOID:3144 ;   NCIT:C84663 ;   Orphanet:209 ;   elastolysis ;   http://identifiers.org/medgen/8206 ;   http://identifiers.org/mesh/D003483 ;   http://identifiers.org/snomedct/58588007 ;   http://linkedlifedata.com/resource/umls/id/C0010495 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1227401566 ;   loose skin
Synonyms: http://identifiers.org/meddra/10011692
Related Synonyms: generalised elastolysis ;   generalized elastolysis
Alternate IDs: MONDO:0016175
Xrefs: DOID:3144 ;   GARD:6227 ;   MEDGEN:8206 ;   MESH:D003483 ;   MedDRA:10011692 ;   NCI:C84663 ;   NORD:1022 ;   ORDO:209 ;   SCTID:58588007 ;   UMLS:C0010495
see_also: https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa" xsd:anyURI {source="GARD:0006227
Definition Sources: Orphanet:209

paths to the root