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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: Fetal Death (D005313)
..Starting node ..Thymic Aplasia with Fetal Death (C564768)
Child Nodes:
Sister Nodes:
..Cardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
..Fetal Resorption (D005327)
..Stillbirth (D050497)
..Thymic Aplasia with Fetal Death (C564768)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11035

Name:

Thymic Aplasia with Fetal Death

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D005313

TreeNumbers:

C13.703.223/C564768 |C16.131.077/C564768 |C23.550.260.585/C564768

Synonyms:

Slim Mappings:

Congenital abnormality|Pathology (process)|Pregnancy complication

Reference:

MedGen: C564768
MeSH: C564768
OMIM: 274210;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000818	Abnormality of the endocrine system
3	HP:0001507	Growth abnormality
4	HP:0002089	Pulmonary hypoplasia
5	HP:0000104	Renal agenesis
6	HP:0003826	Stillbirth
7	HP:0001660	Truncus arteriosus
8	HP:0012300	Ureteral agenesis

Disease Causing ClinVar Variants