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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

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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: Hypopituitarism (D007018)
..Starting node ..Dwarfism, Pituitary (D004393)
Child Nodes:
........Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
........Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
........Isolated Growth Hormone Deficiency, Type II (C562704)
........Kowarski syndrome (C537505)
........Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
........Pituitary dwarfism 1 (C537404)
........Pituitary Dwarfism with Large Sella Turcica (C562705)
........Pituitary Hormone Deficiency, Combined, 2 (C563172)
........Pituitary Hormone Deficiency, Combined, 4 (C567492)
........Short Stature, Idiopathic, Autosomal (C565805)
........Winkelman Bethge Pfeiffer syndrome (C536710)
Sister Nodes:
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Combined Pituitary Hormone Deficiency (C580003)
..Dincsoy Salih Patel syndrome (C536177)
..Dwarfism, Pituitary (D004393) 11
..Holoprosencephaly 9 (C563659)
..Hypopituitarism and septooptic 'dysplasia' (C531815)
..Hypopituitarism, Congenital, with Central Diabetes Insipidus (C565477)
..Kaplowitz Bodurtha syndrome (C536893)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Panhypopituitarism X-linked (C538613)
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..RHYNS syndrome (C537612)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3493
Name:	Dwarfism, Pituitary
Definition:	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.
Alternative IDs:
ParentIDs:	MESH:D001849\|MESH:D004392\|MESH:D007018
TreeNumbers:	C05.116.099.343.445 \|C05.116.132.358 \|C10.228.140.617.738.300.300 \|C19.297.312 \|C19.700.482.311
Synonyms:	Dwarfism, Growth Hormone Deficiency \|Growth Hormone Deficiency Dwarfism \|Hypophysial Dwarf \|Hyposomatotrophic Dwarfism \|Isolated GH Deficiency \|Isolated Growth Hormone Deficiency \|Isolated HGH Deficiency \|Isolated Human Growth Hormone Deficiency \|Isolated Somato
Slim Mappings:	Endocrine system disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: D004393 MeSH: D004393 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants