Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bone Diseases, Endocrine (D001849)
Parent Node: Dwarfism (D004392)
Parent Node: Hypothyroidism (D007037)
..Starting node ..Congenital Hypothyroidism (D003409)
Child Nodes:
........Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress (C567034)
........Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism (C565705)
........Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
........Hypothyroidism, Congenital, Nongoitrous, 1 (C576976)
........Hypothyroidism, Congenital, Nongoitrous, 2 (C566852)
........Hypothyroidism, Congenital, Nongoitrous, 3 (C567935)
........Hypothyroidism, Congenital, Nongoitrous, 4 (C536917)
........Hypothyroidism, Congenital, Nongoitrous, 5 (C567123)
........Kocher-Debre-Semelaigne syndrome (C537211)
........Thyroid Dyshormonogenesis 1 (C564766)
........Thyroid Dyshormonogenesis 2A (C563206)
........Thyroid Dyshormonogenesis 4 (C562770)
........Thyroid Dyshormonogenesis 6 (C564608)
........Thyrotropin, Biologically Inactive (C564765)
........Weaver syndrome (C536687)
........Weaver-Like Syndrome (C562443)
........Young Simpson syndrome (C536717)
Sister Nodes:
..Bamforth syndrome (C537901)
..Congenital Hypothyroidism (D003409) 17
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Johanson Blizzard syndrome (C535880)
..Jung Wolff Back Stahl syndrome (C537694)
..Myxedema (D009230)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Thyroid Dyshormonogenesis 3 (C562769)
..Thyroid Dyshormonogenesis 5 (C562771)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2653
Name:	Congenital Hypothyroidism
Definition:	A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Alternative IDs:
ParentIDs:	MESH:D001849\|MESH:D004392\|MESH:D007037
TreeNumbers:	C05.116.099.343.347 \|C05.116.132.256 \|C16.320.240.625 \|C19.297.155 \|C19.874.482.281
Synonyms:	Cretinism \|Cretinism, Endemic \|Endemic Cretinism \|Fetal Iodine Deficiency Disorder \|Hypothyroidism, Congenital \|Myxedema, Congenital
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: D003409 MeSH: D003409 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants