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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: Craniofacial Abnormalities (D019465)
Parent Node: Ectopia Lentis (D004479)
..Starting node ..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
Child Nodes:
Sister Nodes:
..Blepharoptosis myopia ectopia lentis (C536236)
..Craniosynostosis with Ectopia Lentis (C566357)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia Lentis, Isolated, Autosomal Recessive (C567124) 1
..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
..Familial ectopia lentis (C536184) 1
..GEMSS syndrome (C537679)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Microspherophakia (C563255)
..Noble Bass Sherman syndrome (C536124)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3632

Name:

Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism

Definition:

Alternative IDs:

ParentIDs:

MESH:D004479|MESH:D019465

TreeNumbers:

C05.660.207/C563293 |C11.250.300/C563293 |C11.510.598.373/C563293 |C16.131.384.405/C563293 |C16.131.621.207/C563293

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Musculoskeletal disease

Reference:

MedGen: C563293
MeSH: C563293
OMIM: 601552;

Genes: ASPH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0000444	Convex nasal ridge
4	HP:0000689	Dental malocclusion
5	HP:0000494	Downslanted palpebral fissures
6	HP:0001083	Ectopia lentis
7	HP:0001089	Iris atrophy
8	HP:0003683	Large beaked nose
9	HP:0000568	Microphthalmia	HP:0040283
10	HP:0000448	Prominent nose
11	HP:0000278	Retrognathia
12	HP:0000445	Wide nose	HP:0040283

Disease Causing ClinVar Variants