Disease browser and phenotype 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

Disease Browser
Parent Node: Jaw Diseases (D007571)
Parent Node: Tremor (D014202)
..Starting node ..Geniospasm (C537682)
Child Nodes:
Sister Nodes:
..Fragile X Tremor Ataxia Syndrome (C564105)
..Geniospasm (C537682)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Primary orthostatic tremor (C536418)
..Tremor hereditary essential, 2 (C536546)
..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4561

Name:

Geniospasm

Definition:

Alternative IDs:

OMIM:190100

ParentIDs:

MESH:D007571|MESH:D014202

TreeNumbers:

C05.500/C537682 |C07.320/C537682 |C10.597.350.850/C537682 |C23.888.592.350.850/C537682

Synonyms:

Geniospasm 1 |GSM1 |Hereditary geniospasm |Trembling chin

Slim Mappings:

Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C537682
MeSH: C537682
OMIM: 190100;

Genes: GSM1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0012462	Chin myoclonus

Disease Causing ClinVar Variants