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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
ANE syndrome 
ATM-related cancer predisposition 
autosomal dominant deafness - onychodystrophy syndrome 
Bannayan-Riley-Ruvalcaba syndrome 
BAP1-related tumor predisposition syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
basal cell carcinoma, susceptibility to, 7 
Beckwith-Wiedemann syndrome +  
blue rubber bleb nevus 
BRCA1-related cancer predisposition +  
BRCA2-related cancer predisposition +  
breast fibrocystic disease +   
breast neoplasm +   
Brooke-Spiegler syndrome +  
Carney-Stratakis syndrome 
CDH1-related diffuse gastric and lobular breast cancer syndrome 
CHEK2-related cancer predisposition 
cherubism 
colorectal cancer, susceptibility to, 1 
colorectal cancer, susceptibility to, 10 
colorectal cancer, susceptibility to, 12 
colorectal cancer, susceptibility to, 3 
common variable immunodeficiency +   
cutaneous mycosis +   
cutis laxa +  
DDX41-related hematologic malignancy predisposition syndrome 
disorder of pilosebaceous unit +   
dyskeratosis congenita +  
erythroleukemia, familial, susceptibility to 
familial atypical multiple mole melanoma syndrome 
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 
familial isolated hyperparathyroidism +  
familial multiple fibrofolliculoma 
familial rhabdoid tumor +  
familial tumoral calcinosis +  
follicular lymphoma, susceptibility to, 1 
frontonasal dysplasia with alopecia and genital anomaly 
glioma susceptibility +  
goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 
hereditary breast ovarian cancer syndrome 
hereditary leiomyomatosis and renal cell cancer 
hereditary multiple osteochondromas +  
hereditary nonpolyposis colon cancer +  
hereditary retinoblastoma 
hereditary thrombocytopenia and hematologic cancer predisposition syndrome +  
hyperparathyroidism 2 with jaw tumors 
ichthyosis prematurity syndrome 
integumentary system benign neoplasm +   
integumentary system cancer +   
intestinal polyposis syndrome +  
Kaposi sarcoma, susceptibility to 
keratinization disease +   
keratoderma hereditarium mutilans 
Kostmann syndrome 
leukemia, acute lymphoblastic, susceptibility to, 3 
leukemia, acute myeloid, susceptibility to 
Li-Fraumeni syndrome 
Maffucci syndrome 
mandibulofacial dysostosis with alopecia 
mismatch repair cancer syndrome 1 
mosaic variegated aneuploidy syndrome +  
mucosulfatidosis 
multiple endocrine neoplasia +  
multiple self-healing squamous epithelioma 
N syndrome 
nail disorder +   
nasopharyngeal carcinoma, susceptibility to, 1 
Neu-Laxova syndrome +  
neuroblastoma, susceptibility to, 1 
neuroblastoma, susceptibility to, 2 
neuroblastoma, susceptibility to, 3 
neurofibromatosis +  
nevoid basal cell carcinoma syndrome 
PALB2-related cancer predisposition 
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
progeroid features-hepatocellular carcinoma predisposition syndrome 
Proteus syndrome 
Proteus-like syndrome 
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.
pseudoxanthoma elasticum (inherited or acquired) +  
Rombo syndrome 
Rothmund-Thomson syndrome +  
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
subcutaneous tissue disorder +   
susceptibility to familial cutaneous melanoma +  
susceptibility to uveal melanoma 
tuberous sclerosis 
tumor predisposition syndrome 2 
WAGR syndrome +  
Wiskott-Aldrich syndrome 
X-linked ichthyosis syndrome +  

Synonyms
Exact Synonyms: Cohen-Hayden syndrome ;   NCIT:C179930 ;   Orphanet:2969 ;   http://identifiers.org/medgen/356222 ;   http://identifiers.org/snomedct/716862002 ;   http://linkedlifedata.com/resource/umls/id/C1866398
Related Synonyms: Proteus like syndrome intellectual disability eye defect ;   Proteus like syndrome mental retardation eye defect
Alternate IDs: MONDO:0017571
Xrefs: GARD:12801 ;   MEDGEN:356222 ;   NCI:C179930 ;   ORDO:2969 ;   SCTID:716862002 ;   UMLS:C1866398
External Ontologys: disease_shares_features_of EFO:MONDO:0008318
Definition Sources: Orphanet:2969

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