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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: Anodontia (D000848)
Parent Node: Cleft Palate (D002972)
Parent Node: Dermoid Cyst (D003884)
Parent Node: Hypothyroidism (D007037)
..Starting node ..Zadik Barak Levin syndrome (C536721)
Child Nodes:
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:	11865
Name:	Zadik Barak Levin syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D000848\|MESH:D002972\|MESH:D003884\|MESH:D007037
TreeNumbers:	C04.182.201/C536721 \|C04.557.465.910.250/C536721 \|C05.500.460.185/C536721 \|C05.660.207.540.460.185/C536721 \|C07.320.440.185/C536721 \|C07.465.525.185/C536721 \|C07.650.500.460.185/C536721 \|C07.650.525.185/C536721 \|C07.650.800.100/C536721 \|C07.793.700.100/C536721 \|C1
Synonyms:	Dermoid cysts, hypothyroidism, cleft palate, and hypodontia
Slim Mappings:	Cancer\|Congenital abnormality\|Endocrine system disease\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: C536721 MeSH: C536721 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants