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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: Dwarfism (D004392)
Parent Node: Joint Diseases (D007592)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Spinal Diseases (D013122)
..Starting node ..Laplane Fontaine Lagardere syndrome (C537869)
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:	6197
Name:	Laplane Fontaine Lagardere syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004392\|MESH:D007592\|MESH:D010009\|MESH:D013122
TreeNumbers:	C05.116.099.343/C537869 \|C05.116.099.708/C537869 \|C05.116.900/C537869 \|C05.550/C537869 \|C16.320.240/C537869 \|C19.297/C537869
Synonyms:	Familial syndesmodysplasic dwarfism \|Syndesmodysplasic Dwarfism
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C537869 MeSH: C537869 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants