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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: Spasm (D013035)
..Starting node ..Dwarfism, Familial, With Muscle Spasms (C563447)
Child Nodes:
Sister Nodes:
..Behr syndrome (C537669)
..Dwarfism, Familial, With Muscle Spasms (C563447)
..Hemifacial Spasm (D019569) 1
..Satoyoshi syndrome (C536616)
..Trismus (D014313) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3490

Name:

Dwarfism, Familial, With Muscle Spasms

Definition:

Alternative IDs:

ParentIDs:

MESH:D004392|MESH:D013035

TreeNumbers:

C05.116.099.343/C563447 |C10.597.613.750/C563447 |C16.320.240/C563447 |C19.297/C563447 |C23.888.592.608.750/C563447

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563447
MeSH: C563447
OMIM: 600771;

Genes:

Phenotypes

1	HP:0004779	Brittle scalp hair
2	HP:0011964	Intermittent painful muscle spasms
3	HP:0003683	Large beaked nose
4	HP:0000369	Low-set ears
5	HP:0000400	Macrotia
6	HP:0000520	Proptosis
7	HP:0003510	Severe short stature
8	HP:0002209	Sparse scalp hair

Disease Causing ClinVar Variants