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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: Abnormalities, Multiple (D000015)
Parent Node: Meningocele (D008588)
..Starting node ..Sacral defect and anterior sacral meningocele (C537221)
Child Nodes:
Sister Nodes:
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Lateral meningocele syndrome (C537878)
..Sacral Agenesis Syndrome (C566762)
..Sacral defect and anterior sacral meningocele (C537221)
..Sakoda Complex (C567055)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9934

Name:

Sacral defect and anterior sacral meningocele

Definition:

Alternative IDs:

OMIM:600145

ParentIDs:

MESH:D000015|MESH:D008588

TreeNumbers:

C10.500.680.598/C537221 |C16.131.077/C537221 |C16.131.666.680.598/C537221 |C23.300.707.968/C537221

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C537221
MeSH: C537221
OMIM: 600145;

Genes: VANGL1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007293	Anterior sacral meningocele
3	HP:0003418	Back pain
4	HP:0002019	Constipation
5	HP:0025247	Dermoid cyst
6	HP:0002315	Headache
7	HP:0009790	Hemisacrum
8	HP:0001287	Meningitis
9	HP:0000011	Neurogenic bladder
10	HP:0005224	Rectal abscess
11	HP:0012033	Sacral lipoma

Disease Causing ClinVar Variants