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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: Dwarfism (D004392)
Parent Node: Hip Dislocation, Congenital (D006618)
..Starting node ..Dwarfism tall vertebrae (C535725)
Child Nodes:
Sister Nodes:
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Carnevale syndrome (C535586)
..CODAS syndrome (C536434)
..Coxoauricular Syndrome (C565148)
..DEVELOPMENTAL DYSPLASIA OF THE HIP 1 (OMIM:142700)
..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..Dwarfism tall vertebrae (C535725)
..Dwarfism, Proportionate, with Hip Dislocation (C565614)
..Hip Dysplasia, Beukes Type (C564185)
..Ho Kaufman Mcalister syndrome (C538325)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3496
Name:	Dwarfism tall vertebrae
Definition:
Alternative IDs:
ParentIDs:	MESH:D004392\|MESH:D006618
TreeNumbers:	C05.116.099.343/C535725 \|C05.660.449/C535725 \|C16.131.621.449/C535725 \|C16.320.240/C535725 \|C19.297/C535725
Synonyms:	Dwarfism with disproportionately high vertebral bodies \|Dwarfism with Tall Vertebrae \|Short stature and tall vertebrae
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C535725 MeSH: C535725 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants