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: Eye Abnormalities (D005124)
Parent Node: Eyelid Diseases (D005141)
..Starting node ..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
Child Nodes:
Sister Nodes:
..Barber Say syndrome (C537908)
..Blepharitis (D001762) 1
..Blepharochalasis, Superior (C566223)
..Blepharophimosis (D016569) 17
..Blepharoptosis (D001763) 24
..Blepharospasm (D001764) 2
..Chalazion (D017043)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Eccrine Syringofibroadenomatosis with Eyelid Abnormalities (C566347)
..Ectropion (D004483) 2
..Entropion (D004774)
..Epiblepharon of Upper Lid (C565051)
..Eyelid Neoplasms (D005142) 2
..Hordeolum (D006726)
..Hyperpigmentation of Eyelids (C562400)
..Trichiasis (D058457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2879

Name:

Cryptophthalmos, Unilateral or Bilateral, Isolated

Definition:

Alternative IDs:

ParentIDs:

MESH:D005124|MESH:D005141

TreeNumbers:

C11.250/C565138 |C11.338/C565138 |C16.131.384/C565138

Synonyms:

Ankyloblepharon, Simple |Cryptophthalmos with Microphthalmia and Peters Anomaly

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C565138
MeSH: C565138
OMIM: 123570;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009755	Ankyloblepharon
3	HP:0001126	Cryptophthalmos
4	HP:0000501	Glaucoma
5	HP:0000568	Microphthalmia

Disease Causing ClinVar Variants