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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: Intellectual Disability (D008607)
Parent Node: Scalp Dermatoses (D012536)
Parent Node: Thyroid Diseases (D013959)
..Starting node ..Akesson syndrome (C535610)
Child Nodes:
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:	389
Name:	Akesson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D012536\|MESH:D013959
TreeNumbers:	C10.597.606.643/C535610 \|C17.800.738/C535610 \|C19.874/C535610 \|C23.888.592.604.646/C535610 \|F03.550.600/C535610
Synonyms:	Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome \|Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation \|Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome
Slim Mappings:	Endocrine system disease\|Mental disorder\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C535610 MeSH: C535610 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants