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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: Hemorrhage (D006470)
Parent Node: Polyhydramnios (D006831)
Parent Node: Respiratory Insufficiency (D012131)
..Starting node ..Circumvallate Placenta Syndrome (C565847)
Child Nodes:
Sister Nodes:
..Acidosis, Respiratory (D000142)
..Airway Obstruction (D000402) 1
..Asphyxiating Thoracic Dystrophy 3 (C567761) 1
..Circumvallate Placenta Syndrome (C565847)
..Granuloma, Laryngeal (D006102)
..Hantavirus Pulmonary Syndrome (D018804)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypoventilation (D007040) 3
..Infantile Apparent Life-Threatening Event (D057768)
..Positive-Pressure Respiration, Intrinsic (D018467)
..Respiratory Paralysis (D012133)
..Respiratory Underresponsiveness to Hypoxia and Hypercapnia (C564848)
..Tauopathy and Respiratory Failure (C563580)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2406

Name:

Circumvallate Placenta Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D006470|MESH:D006831|MESH:D012131

TreeNumbers:

C08.618.846/C565847 |C13.703.610/C565847 |C23.550.414/C565847

Synonyms:

Slim Mappings:

Pathology (process)|Pregnancy complication|Respiratory tract disease

Reference:

MedGen: C565847
MeSH: C565847
OMIM: 215550;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0000951	Abnormality of the skin
4	HP:0002170	Intracranial hemorrhage
5	HP:0001561	Polyhydramnios
6	HP:0002093	Respiratory insufficiency

Disease Causing ClinVar Variants