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Term:
Parent Terms Term With Siblings Child Terms
Acroosteolysis dominant type 
ADAR-related type 1 interferonopathy +  
adiposis dolorosa 
Aicardi-Goutieres syndrome +  
aneurysmal bone cyst 
arterial tortuosity syndrome 
autoimmune interstitial lung disease-arthritis syndrome 
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 
autoinflammatory disease, multisystem, with immune dysregulation, X-linked 
autoinflammatory disease, systemic, with vasculitis 
autoinflammatory disease, X-linked 
autoinflammatory syndrome with immunodeficiency 
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 
autoinflammatory syndrome, familial, Behcet-like +  
autosomal recessive inherited pseudoxanthoma elasticum 
autosomal systemic lupus erythematosus type 16 
Blau syndrome 
bone fragility with contractures, arterial rupture, and deafness 
brittle cornea syndrome 
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 
cerebrotendinous xanthomatosis 
cherubism 
CHILD syndrome 
chondrocalcinosis 2 
chondrosarcoma +  
chronic myelogenous leukemia +   
chronic recurrent multifocal osteomyelitis +  
CLOVES syndrome 
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 
deficiency of adenosine deaminase 2 +  
dermatofibrosarcoma protuberans 
Desbuquois dysplasia 2 
Desmoid-type fibromatosis +  
diaphyseal medullary stenosis-bone malignancy syndrome 
diffuse lipomatosis 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
EMILIN-1-related connective tissue disease 
encephalocraniocutaneous lipomatosis 
Ewing sarcoma of bone 
familial angiolipomatosis 
familial chilblain lupus +  
familial isolated pituitary adenoma +  
familial multiple lipomatosis 
fibrodysplasia ossificans progressiva 
FLOTCH syndrome 
hemangioma of subcutaneous tissue  
hereditary multiple osteochondromas +  
hereditary periodic fever syndrome +  
hyperparathyroidism 2 with jaw tumors 
hyperparathyroidism 4 
idiopathic juvenile osteoporosis 
IFIH1-related type 1 interferonopathy +  
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +  
infantile myofibromatosis +  
inherited acute myeloid leukemia 
isolated anhidrosis with normal sweat glands 
jugulotympanic paraganglioma +  
juvenile hyaline fibromatosis 
Lipedema 
Maffucci syndrome 
Marfan and Marfan-related disorder +  
MASS syndrome 
mediastinal lipomatosis 
multiple epiphyseal dysplasia due to collagen 9 anomaly +  
multiple symmetric lipomatosis 
a rare condition which is characterized with large symmetrical accumulation of noncapsulated fat tissue in upper arms, neck, and shoulder areas. The disease etiology is unknown, with the highest incidence in the Mediterranean region. Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
myxoid liposarcoma +  
neonatal inflammatory skin and bowel disease +  
neonatal severe primary hyperparathyroidism 
nodular fasciitis 
nodular nonsuppurative panniculitis 
Ollier disease 
orbit embryonal rhabdomyosarcoma 
ossification of the posterior longitudinal ligament of the spine  
Pelger-Huet-like anomaly and episodic fever with abdominal pain 
pelvic lipomatosis 
Peyronie disease +   
Pierpont syndrome 
primary lipodystrophy 
progeroid and marfanoid aspect-lipodystrophy syndrome 
proteosome-associated autoinflammatory syndrome +  
psoriasis 14, pustular  
pyogenic arthritis-pyoderma gangrenosum-acne syndrome 
RNU7-1-related type 1 interferonopathy +  
Roch-Leri mesosomatous lipomatosis 
Singleton-Merten dysplasia +  
spondylo-ocular syndrome 
Spondyloenchondrodysplasia with immune dysregulation 
steroid lipomatosis 
STING-associated vasculopathy with onset in infancy 
sweet syndrome 
TREX1-related type 1 interferonopathy +  
trichohepatoenteric syndrome 
type 2 collagenopathy +  
uterine fibroid +   
VEXAS syndrome 
X-linked reticulate pigmentary disorder 

Synonyms
Exact Synonyms: DOID:14116 ;   Launois-Bensaude lipomatosis ;   Launois-Bensaude's lipomatosis ;   Madelung disease ;   Madelung's neck ;   NCIT:C4392 ;   Orphanet:2398 ;   cephalothoracic lipodystrophy ;   cervical symmetrical lipomatosis ;   familial benign cervical lipomatosis
Related Synonyms: Launois-Bensaude syndrome ;   MSL ;   Madelung's disease ;   benign symmetrical lipomatosis ;   familial symmetric lipomatosis
Xrefs: DOID:14116 ;   DOID:3137 ;   GARD:6957 ;   MEDGEN:7349 ;   MIM:151800 ;   MONDO:0007908 ;   MedDRA:10084240 ;   NCI:C4392 ;   NORD:1392 ;   ORDO:2398
see_also: https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis" xsd:anyURI {source="GARD:0006957
Definition Sources: Orphanet:2398

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