MCID: CMP057
MIFTS: 6

Complete Cryptophthalmia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Complete Cryptophthalmia

MalaCards integrated aliases for Complete Cryptophthalmia:

Name: Complete Cryptophthalmia 60

Characteristics:

Orphanet epidemiological data:

60
complete cryptophthalmia
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q11.2
Orphanet 60 ORPHA98949

Summaries for Complete Cryptophthalmia

MalaCards based summary : Complete Cryptophthalmia An important gene associated with Complete Cryptophthalmia is FREM2 (FRAS1 Related Extracellular Matrix 2). Affiliated tissues include eye.

Related Diseases for Complete Cryptophthalmia

Symptoms & Phenotypes for Complete Cryptophthalmia

Drugs & Therapeutics for Complete Cryptophthalmia

Search Clinical Trials , NIH Clinical Center for Complete Cryptophthalmia

Genetic Tests for Complete Cryptophthalmia

Anatomical Context for Complete Cryptophthalmia

MalaCards organs/tissues related to Complete Cryptophthalmia:

42
Eye

Publications for Complete Cryptophthalmia

Variations for Complete Cryptophthalmia

Expression for Complete Cryptophthalmia

Search GEO for disease gene expression data for Complete Cryptophthalmia.

Pathways for Complete Cryptophthalmia

GO Terms for Complete Cryptophthalmia

Sources for Complete Cryptophthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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