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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: Campomelic Dysplasia (D055036)
Parent Node: Disorders of Sex Development (D012734)
..Starting node ..Campomelic Dysplasia with Autosomal Sex Reversal (C564282)
Child Nodes:
Sister Nodes:
..46, XX Disorders of Sex Development (D058489) 25
..46, XY Disorders of Sex Development (D058490) 48
..Adrenogenital Syndrome (D047808) 17
..Campomelic Dysplasia with Autosomal Sex Reversal (C564282)
..Gonadal Dysgenesis (D006059) 37
..Meacham Syndrome (C563821)
..Ovotesticular Disorders of Sex Development (D050090) 3
..Sex Chromosome Disorders of Sex Development (D058533) 8
..Verloes Gillerot Fryns syndrome (C536539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1583
Name:	Campomelic Dysplasia with Autosomal Sex Reversal
Definition:
Alternative IDs:
ParentIDs:	MESH:D012734\|MESH:D055036
TreeNumbers:	C05.660.142/C564282 \|C12.706.316/C564282 \|C13.351.875.253/C564282 \|C16.131.621.142/C564282 \|C16.131.939.316/C564282 \|C19.391.119/C564282 \|F03.800.399/C564282
Synonyms:
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Mental disorder\|Musculoskeletal disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C564282 MeSH: C564282 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants