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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: Cervical Rib Syndrome (D002573)
Parent Node: Hearing Loss, Central (D006313)
Parent Node: Ichthyosis (D007057)
Parent Node: Intellectual Disability (D008607)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Thyroid Neoplasms (D013964)
..Starting node ..Ruzicka Goerz Anton syndrome (C537192)
Child Nodes:
Sister Nodes:
..Familial medullary thyroid carcinoma (C536911)
..Nonmedullary thyroid carcinoma, with or without cell oxyphilia (C537842)
..Papillary Thyroid Microcarcinoma (C563277)
..Ruzicka Goerz Anton syndrome (C537192)
..Thyroid cancer, Hurthle cell (C536913)
..Thyroid cancer, medullary (C536914)
..Thyroid cancer, papillary (C536915)
..Thyroid Carcinoma, Nonmedullary 1 (C565247)
..Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia (C565310)
..Thyroid Nodule (D016606)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9928
Name:	Ruzicka Goerz Anton syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002573\|MESH:D006313\|MESH:D007057\|MESH:D008607\|MESH:D013964\|MESH:D017880
TreeNumbers:	C04.588.322.894/C537192 \|C04.588.443.915/C537192 \|C05.660.585/C537192 \|C09.218.458.341.887.432/C537192 \|C09.218.807.186.432/C537192 \|C10.228.140.068.432/C537192 \|C10.597.606.643/C537192 \|C10.597.751.418.341.887.432/C537192 \|C10.668.829.550.850.200/C537192 \|C14.90
Synonyms:	Ichthyosis deafness mental retardation skeletal anomalies
Slim Mappings:	Cancer\|Cardiovascular disease\|Congenital abnormality\|Ear-nose-throat disease\|Endocrine system disease\|Infant-newborn disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C537192 MeSH: C537192 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants