Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Facies (D019066)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Spinal Diseases (D013122)
..Starting node ..Microcephaly cervical spine fusion anomalies (C537325)
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:	7172
Name:	Microcephaly cervical spine fusion anomalies
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D008607\|MESH:D008831\|MESH:D013122\|MESH:D019066
TreeNumbers:	C05.116.900/C537325 \|C05.660.207.620/C537325 \|C10.500.507.400.500/C537325 \|C10.597.606.643/C537325 \|C16.131.621.207.620/C537325 \|C16.131.666.507.400.500/C537325 \|C23.550.291.812/C537325 \|C23.550.393/C537325 \|C23.888.592.604.646/C537325 \|F03.550.600/C537325
Synonyms:	Microcephaly, mild mental retardation, short stature, and skeletal anomalies \|Microcephaly with Cervical Spine Fusion Anomalies
Slim Mappings:	Congenital abnormality\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C537325 MeSH: C537325 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants