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Ontology Browser
Term:
encephalocraniocutaneous lipomatosis (EFO:MONDO:0013074)
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
absence of fingerprints-congenital milia syndrome 
acne +   
acrogeria 
acrokeratosis verruciformis 
Acroosteolysis dominant type 
ADAR-related type 1 interferonopathy +  
adiposis dolorosa 
Aicardi-Goutieres syndrome +  
albinism-hearing loss syndrome 
alopecia, isolated +  
aneurysmal bone cyst 
aplasia cutis congenita +  
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 dominant vibratory urticaria 
autosomal recessive cutis laxa type 2A +  
autosomal recessive inherited pseudoxanthoma elasticum 
autosomal systemic lupus erythematosus type 16 
Becker nevus syndrome +  
Blau syndrome 
blue rubber bleb nevus 
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 
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 +  
chorea-acanthocytosis 
chronic mucocutaneous candidiasis +  
chronic myelogenous leukemia +   
chronic recurrent multifocal osteomyelitis +  
CLOVES syndrome 
combined immunodeficiency with skin granulomas 
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 
Cowden disease +  
cutaneous mastocytosis +   
Darier disease 
deficiency of adenosine deaminase 2 +  
dermatitis herpetiformis, familial 
dermatofibrosarcoma protuberans 
dermatosis papulosa nigra 
Desbuquois dysplasia 2 
Desmoid-type fibromatosis +  
diaphyseal medullary stenosis-bone malignancy syndrome 
diffuse lipomatosis 
DK1-congenital disorder of glycosylation 
dyschromatosis universalis hereditaria +  
ectodermal dysplasia syndrome +   
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
EMILIN-1-related connective tissue disease 
encephalocraniocutaneous lipomatosis 
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
epidermodysplasia verruciformis +  
Ewing sarcoma of bone 
familial acanthosis nigricans 
familial acne inversa +  
familial angiolipomatosis 
familial chilblain lupus +  
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 
familial isolated pituitary adenoma +  
familial keratoacanthoma 
familial multiple fibrofolliculoma 
familial multiple lipomatosis 
familial multiple nevi flammei 
familial pityriasis rubra pilaris 
familial primary localized cutaneous amyloidosis +  
fibrodysplasia ossificans progressiva 
FLOTCH syndrome 
generalized basaloid follicular hamartoma syndrome 
H syndrome 
Hailey-Hailey disease 
hemangioma of subcutaneous tissue  
hereditary angioedema +  
hereditary lipodystrophy +  
hereditary mucoepithelial dysplasia 
hereditary mucosal leukokeratosis +  
hereditary multiple osteochondromas +  
hereditary palmoplantar keratoderma +  
hereditary papulotranslucent acrokeratoderma 
hereditary periodic fever syndrome +  
hereditary photodermatosis +  
hereditary sclerosing poikiloderma with tendon and pulmonary involvement 
hyperkeratosis-hyperpigmentation syndrome 
hyperparathyroidism 2 with jaw tumors 
hyperparathyroidism 4 
hyperpigmentation with or without hypopigmentation, familial progressive +  
idiopathic juvenile osteoporosis 
IFIH1-related type 1 interferonopathy +  
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +  
infantile myofibromatosis +  
inflammatory poikiloderma with hair abnormalities and acral keratoses 
inherited acute myeloid leukemia 
inherited epidermolysis bullosa +  
inherited ichthyosis +  
isolated anhidrosis with normal sweat glands 
isolated congenital adermatoglyphia 
isolated hyperchlorhidrosis 
jugulotympanic paraganglioma +  
juvenile hyaline fibromatosis 
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 
keratosis pilaris atrophicans +  
lamellar ichthyosis +  
large congenital melanocytic nevus 
Legius syndrome 
lichen planus, familial 
lichen sclerosus et atrophicus +  
linear nevus sebaceous syndrome 
linear skin defects with multiple congenital anomalies 
Lipedema 
lipoid proteinosis 
Maffucci syndrome 
Marfan and Marfan-related disorder +  
MASS syndrome 
mediastinal lipomatosis 
MEDNIK syndrome 
monilethrix 
multiple benign circumferential skin creases on limbs 1 
multiple epiphyseal dysplasia due to collagen 9 anomaly +  
multiple symmetric lipomatosis 
myxoid liposarcoma +  
neonatal inflammatory skin and bowel disease +  
neonatal severe primary hyperparathyroidism 
neurocutaneous melanocytosis 
nevus comedonicus syndrome 
nevus, epidermal +  
nodular fasciitis 
nodular nonsuppurative panniculitis 
oculocutaneous albinism +  
Ollier disease 
orbit embryonal rhabdomyosarcoma 
ossification of the posterior longitudinal ligament of the spine  
osteopathia striata-pigmentary dermopathy-white forelock syndrome 
Pelger-Huet-like anomaly and episodic fever with abdominal pain 
pelvic lipomatosis 
PENS syndrome 
Peyronie disease +   
phakomatosis pigmentokeratotica 
piebaldism 
Pierpont syndrome 
Pilomatrixoma 
poikiloderma with neutropenia 
porokeratosis +  
primary lipodystrophy 
progeroid and marfanoid aspect-lipodystrophy syndrome 
progressive osseous heteroplasia 
proteosome-associated autoinflammatory syndrome +  
psoriasis +   
psoriasis 14, pustular  
pyogenic arthritis-pyoderma gangrenosum-acne syndrome 
reticulate pigment disorder +  
RNU7-1-related type 1 interferonopathy +  
Roch-Leri mesosomatous lipomatosis 
scalp defects-postaxial polydactyly syndrome 
schwannomatosis 
sebocystomatosis 
seborrhea-like dermatitis with psoriasiform elements 
seborrheic keratosis +   
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 
Singleton-Merten dysplasia +  
Sneddon syndrome 
spinocerebellar ataxia type 34 
spondylo-ocular syndrome 
Spondyloenchondrodysplasia with immune dysregulation 
steroid lipomatosis 
stiff skin syndrome 
STING-associated vasculopathy with onset in infancy 
Subcutaneous Panniculitis-Like T-Cell Lymphoma 
sweet syndrome 
syndromic oculocutaneous albinism +  
Tietz syndrome 
TREX1-related type 1 interferonopathy +  
trichohepatoenteric syndrome 
type 2 collagenopathy +  
uterine fibroid +   
vasculitis, lymphocytic, nodular 
VEXAS syndrome 
X-linked chondrodysplasia punctata 2 
X-linked reticulate pigmentary disorder 

Synonyms
Exact Synonyms: ECCL ;   Fishman syndrome ;   Haberland syndrome ;   NCIT:C4701 ;   Orphanet:2396 ;   encephalocraniocutaneous lipomatosis, somatic mosaic ;   http://identifiers.org/medgen/140807 ;   http://identifiers.org/mesh/C535736 ;   http://identifiers.org/snomedct/238905009 ;   http://linkedlifedata.com/resource/umls/id/C0406612
Alternate IDs: MONDO:0013074
Xrefs: GARD:2108 ;   ICD9:757.8 ;   MEDGEN:140807 ;   MESH:C535736 ;   MIM:613001 ;   NCI:C4701 ;   ORDO:2396 ;   SCTID:238905009 ;   UMLS:C0406612 ;   icd11.foundation:1084215843
see_also: https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis" xsd:anyURI {source="GARD:0002108
Definition Sources: NCIT:P378

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