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: Congenital Abnormalities (D000013)
Parent Node: Thyroid Diseases (D013959)
..Starting node ..Thyroid Dysgenesis (D050033)
Child Nodes:
........Hypothyroidism, Congenital, Nongoitrous, 2 (C566852)
........Lingual Thyroid (D046151) 1
Sister Nodes:
..Akesson syndrome (C535610)
..Euthyroid Sick Syndromes (D005067)
..Goiter (D006042) 17
..Hyperthyroidism (D006980) 10
..Hyperthyroxinemia (D006981) 8
..Hypothyroidism (D007037) 30
..Inherited Thyroxine-Binding Globulin Deficiency (C580199)
..Thyrocerebral-retinal syndrome (C536908)
..Thyroid Dysgenesis (D050033) 3
..Thyroid Hormone Metabolism, Abnormal (C566454)
..Thyroid Neoplasms (D013964) 10
..THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:612306)
..Thyroiditis (D013966) 9
..Thyrotoxicosis (D013971) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11055
Name:	Thyroid Dysgenesis
Definition:	Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D013959
TreeNumbers:	C16.131.894 \|C19.874.689
Synonyms:	Agenesis, Thyroid \|Dysgenesis, Thyroid \|Ectopic Thyroid \|Ectopic Thyroids \|Hypoplasia, Thyroid \|Thyroid Agenesis \|Thyroid, Ectopic \|Thyroid Hypoplasia \|Thyroids, Ectopic
Slim Mappings:	Congenital abnormality\|Endocrine system disease
Reference:	MedGen: D050033 MeSH: D050033 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants