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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: Hernia, Inguinal (D006552)
..Starting node ..Microspherophakia with hernia (C537468)
Child Nodes:
Sister Nodes:
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Hernia, Double Inguinal (C563164)
..Lambert syndrome (C538396)
..Microspherophakia with hernia (C537468)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7253

Name:

Microspherophakia with hernia

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D006552

TreeNumbers:

C16.131.077/C537468 |C23.300.707.374.875/C537468

Synonyms:

Slim Mappings:

Congenital abnormality|Pathology (anatomical condition)

Reference:

MedGen: C537468
MeSH: C537468
OMIM: 157150;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000023	Inguinal hernia
3	HP:0030961	Microspherophakia
4	HP:0000545	Myopia
5	HP:0000541	Retinal detachment
6	HP:0008019	Superior lens subluxation

Disease Causing ClinVar Variants