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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: Hyperopia (D006956)
Parent Node: Microphthalmos (D008850)
Parent Node: Retinal Degeneration (D012162)
..Starting node ..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
Child Nodes:
Sister Nodes:
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Enhanced S-Cone Syndrome (C564835)
..Hyaloideoretinal degeneration of Wagner (C536075)
..Joubert syndrome 4 (C536296)
..Late-Onset Retinal Degeneration (C565309)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..MacKay Shek Carr syndrome (C538364)
..Macular Degeneration (D008268) 28
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Noble Bass Sherman syndrome (C536124)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Retinal Cone Dystrophy 1 (C566719)
..Retinal Degeneration and Epilepsy (C564847)
..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..Retinal Drusen (D015593) 2
..Retinal Dystrophies (D058499) 143
..Retinoschisis (D041441) 1
..Snowflake vitreoretinal degeneration (C536677)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Sveinsson Chorioretinal Atrophy (C566236)
..Vitreoretinochoroidopathy (C536352)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7248

Name:

Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D006956|MESH:D008850|MESH:D012162

TreeNumbers:

C11.250.566/C566884 |C11.744.479/C566884 |C11.768.585/C566884 |C16.131.384.666/C566884

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C566884
MeSH: C566884
OMIM: 251700;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0000501	Glaucoma
4	HP:0008499	High hypermetropia
5	HP:0000568	Microphthalmia
6	HP:0000546	Retinal degeneration

Disease Causing ClinVar Variants