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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

Disease Browser
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Spinal Diseases (D013122)
..Starting node ..Spondylocamptodactyly (C535779)
Child Nodes:
Sister Nodes:
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Intervertebral Disc Degeneration (D055959) 1
..Intervertebral Disc Displacement (D007405) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Microcephaly cervical spine fusion anomalies (C537325)
..Ossification of Posterior Longitudinal Ligament (D017887) 1
..Platybasia (D010985) 1
..Posterior Cervical Sympathetic Syndrome (D055010)
..Spinal Curvatures (D013121) 37
..Spinal Neoplasms (D013125)
..Spinal Osteochondrosis (D055035) 1
..Spinal Osteophytosis (D013128) 2
..Spinal Stenosis (D013130)
..Spondylitis (D013166) 10
..Spondylocamptodactyly (C535779)
..Spondylosis (D055009) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10567

Name:

Spondylocamptodactyly

Definition:

Alternative IDs:

ParentIDs:

MESH:D006228|MESH:D013122

TreeNumbers:

C05.116.900/C535779 |C05.390.408/C535779 |C05.660.585.988.425/C535779 |C16.131.621.585.425/C535779

Synonyms:

Camptodactyly with cervical platyspondyly |Spondylo camptodactyly syndrome

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535779
MeSH: C535779
OMIM: 600000;

Genes:

Phenotypes

Disease Causing ClinVar Variants