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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: Bone Diseases, Developmental (D001848)
Parent Node: Osteolysis (D010014)
..Starting node ..Acro-Osteolysis (D030981)
Child Nodes:
........Acroosteolysis dominant type (C535663)
........Hajdu-Cheney Syndrome (D031845) 1
........Keratosis palmoplantaris with periodontopathia and onychogryposis (C537627)
........Mandibuloacral dysplasia with type A lipodystrophy (C535705)
........Penttinen-Aula syndrome (C536653)
........Van Bogaert-Hozay syndrome (C536526)
Sister Nodes:
..Acro-Osteolysis (D030981) 7
..Dermatoosteolysis Kirghizian type (C535373)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteolysis hereditary multicentric (C536051)
..Osteolysis syndrome recessive (C536052)
..Osteolysis, Essential (D010015) 1
..Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy (C567171)
..Polyosteolysis-Hyperostosis Syndrome (C563658)
..Polyostotic osteolytic dysplasia, hereditary expansile (C536335)
..Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals (C536894)
..Winchester syndrome (C536709)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	206
Name:	Acro-Osteolysis
Definition:	A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D010014
TreeNumbers:	C05.116.099.052 \|C05.116.264.579.052
Synonyms:	Acroosteolysis \|Acro Osteolysis \|Acroosteolysis Syndrome \|Acro-Osteolysis Syndrome \|Acro-Osteolysis Syndromes
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D030981 MeSH: D030981 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants