Multiple enchondromatosis

Symptom Information:

Symptom ID: HPO:0005701
Synonyms:
Enchondromatosis [Orphanet:45330]
Enchondromatosis (disorder) [Orphanet:45330]
Multiple enchondromatosis [OMIM:Multiple enchondromatosis]
Enchondroses [Orphanet:45330]
Enchondromatosis [MedDRA:10014642]
Dyschondroplasia [MedDRA:10014642]
Enchondromatosis [OMIM:Enchondromatosis]
Dyschondroplasia [MedDRA:10013891]
Chondrodysplasia [Orphanet:45210]
Chondrodysplasia (disorder) [Orphanet:45210]
Dyschondroplasias [Orphanet:45210]
Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia [Orphanet:45210]
Chondrodysplasia [OMIM:Chondrodysplasia]
Quality:
Cross references:
Orphanet:45330 "Enchondroses" [Orphanet:45330]
Orphanet:45210 "Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia" [Orphanet:45210]
OMIM: "Multiple enchondromatosis" [OMIM:Multiple enchondromatosis]
OMIM: "Enchondromatosis" [OMIM:Enchondromatosis]
OMIM: "Chondrodysplasia" [OMIM:Chondrodysplasia]
UMLS:C0014084 "Enchondromatosis" [Orphanet:45330]
UMLS:C0343284 "Chondrodysplasia" [Orphanet:45210]
UMLS:C0013366 "Dyschondroplasias" [Orphanet:45210]
Is a (Direct Parents):
Orphanet Abnormality of the skeletal system
MedDRA Cartilage neoplasms benign
Orphanet Dysostosis multiplex
HPO         Abnormal cartilage morphology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal cartilage morphology(HPO:0002763)
                Multiple enchondromatosis(HPO:0005701)
MedDRA:
Neoplasms benign, malignant and unspecified (incl cysts and polyps)(MedDRA:10029104)
    Skeletal neoplasms benign(MedDRA:10040776)
       Cartilage neoplasms benign(MedDRA:10007711)
          Multiple enchondromatosis(HPO:0005701)
Database Frequency: 11 / 7739
Resource:

All diseases associated with this symptom:

Buschke-Ollendorff syndrome (Orphanet:1306)
Carpotarsal osteochondromatosis (Orphanet:2767)
Cartilage-hair hypoplasia (Orphanet:175)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Enchondromatosis (Orphanet:296)
Genochondromatosis type 1 (Orphanet:85197)
Maffucci syndrome (Orphanet:163634)
Metachondromatosis (Orphanet:2499)
Spondyloenchondrodysplasia (Orphanet:1855)
Treacher-Collins syndrome (Orphanet:861)
Upington disease (Orphanet:3408)