Disease browser and phenotype portal

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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: Hearing Loss, Bilateral (D006312)
Parent Node: Mitral Valve Insufficiency (D008944)
Parent Node: Osteosclerosis (D010026)
..Starting node ..Forney Robinson Pascoe syndrome (C537269)
Child Nodes:
Sister Nodes:
..Axial osteosclerosis (C537792)
..Cerebellar hypoplasia with endosteal sclerosis (C535353)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Distal Osteosclerosis (C565093)
..Dysosteosclerosis (C562973)
..Forney Robinson Pascoe syndrome (C537269)
..Hyperostosis Cranialis Interna (C564168)
..Melorheostosis (D008557) 1
..Mixed sclerosing bone dystrophy (C537479)
..Osteopathia striata cranial sclerosis (C536053)
..Osteopetrosis (D010022) 15
..Osteopoikilosis (D010023) 4
..Osteosclerosis with Ichthyosis and Fractures (C563483)
..Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions (C566378)
..Pyknoachondrogenesis (C536251)
..Raine syndrome (C535282)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4382
Name:	Forney Robinson Pascoe syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006312\|MESH:D008944\|MESH:D010026
TreeNumbers:	C05.116.099.708.702/C537269 \|C09.218.458.341.374/C537269 \|C10.597.751.418.341.374/C537269 \|C14.280.484.461/C537269 \|C16.131.077/C537269 \|C23.888.592.763.393.341.374/C537269
Synonyms:	Congenital heart disease, deafness, and skeletal malformations
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Ear-nose-throat disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537269 MeSH: C537269 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants