Disease browser and phenotype portal

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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: Bone Diseases, Developmental (D001848)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Spinal Diseases (D013122)
..Starting node ..Platybasia (D010985)
Child Nodes:
........Basilar Impression, Primary (C566226)
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:	9003
Name:	Platybasia
Definition:	A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D013122\|MESH:D019465
TreeNumbers:	C05.116.099.742 \|C05.116.900.540 \|C05.660.207.720 \|C16.131.621.207.720
Synonyms:	Basilar Impression \|Basilar Impressions \|Impression, Basilar \|Impressions, Basilar \|Platybasias
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: D010985 MeSH: D010985 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants