MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: malformation syndrome with short stature (MONDO:0015329)
Parent Node: slender bone dysplasia (MONDO:0019699)
Parent Node: syndrome with hypoparathyroidism (MONDO:0015895)
..Starting node ..Kenny-Caffey syndrome ()
Child Nodes:
........autosomal dominant Kenny-Caffey syndrome ()
........autosomal recessive Kenny-Caffey syndrome ()
Sister Nodes:
..22q11.2 deletion syndrome ()
..Bartter syndrome with hypocalcemia ()
..Dahlberg-borer-Newcomer syndrome ()
..hypoparathyroidism-deafness-renal disease syndrome ()
..hypoparathyroidism-retardation-dysmorphism syndrome ()
..Kearns-Sayre syndrome () L: 00143;
..Kenny-Caffey syndrome ()
..long chain 3-hydroxyacyl-CoA dehydrogenase deficiency () L: 00474;
..Pearson syndrome () L: 00169;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16516
Name:	Kenny-Caffey syndrome
Definition:	A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Kenny syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal