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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Chondromatosis (D018210)
Parent Node: Exostoses, Multiple Hereditary (D005097)
..Starting node ..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
Child Nodes:
Sister Nodes:
..Chondrodysplasia, blomstrand type (C537914)
..Dermochondrocorneal dystrophy of François (C535375)
..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..Exostoses Of Heel (C563167)
..EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
..EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
..Exostoses, Multiple, Type III (C563975)
..Kniest like dysplasia lethal (C537208)
..Metachondromatosis (C562938)
..Metaphyseal acroscyphodysplasia (C537350)
..Multiple Exostoses with Spastic Tetraparesis (C563566)
..Polyposis, Intestinal, With Multiple Exostoses (C566776)
..Potocki-Shaffer syndrome (C538356)
..Stuve-Wiedemann syndrome (C537502)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3543

Name:

Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D005097|MESH:D018210

TreeNumbers:

C04.557.450.565.265.270/C565076 |C04.557.450.565.575.610.615.325/C565076 |C04.700.330/C565076 |C05.116.099.708.670.615.325/C565076 |C05.116.099/C565076 |C05.116.540.310.500/C565076 |C16.320.700.330/C565076

Synonyms:

Osteochondromatosis, Dominant Carpotarsal

Slim Mappings:

Cancer|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C565076
MeSH: C565076
OMIM: 127820;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001386	Joint swelling
3	HP:0030431	Osteochondroma

Disease Causing ClinVar Variants