MCID: CLB023
MIFTS: 6

Coloboma of Inferior Eyelid

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coloboma of Inferior Eyelid

MalaCards integrated aliases for Coloboma of Inferior Eyelid:

Name: Coloboma of Inferior Eyelid 59
Inferior Palpebral Coloboma 59

Classifications:



External Ids:

Orphanet 59 ORPHA155889
ICD10 via Orphanet 34 Q10.3

Summaries for Coloboma of Inferior Eyelid

MalaCards based summary : Coloboma of Inferior Eyelid, also known as inferior palpebral coloboma, is related to choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome. Affiliated tissues include eye.

Related Diseases for Coloboma of Inferior Eyelid

Diseases related to Coloboma of Inferior Eyelid via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 11.3

Symptoms & Phenotypes for Coloboma of Inferior Eyelid

Drugs & Therapeutics for Coloboma of Inferior Eyelid

Search Clinical Trials , NIH Clinical Center for Coloboma of Inferior Eyelid

Genetic Tests for Coloboma of Inferior Eyelid

Anatomical Context for Coloboma of Inferior Eyelid

MalaCards organs/tissues related to Coloboma of Inferior Eyelid:

41
Eye

Publications for Coloboma of Inferior Eyelid

Variations for Coloboma of Inferior Eyelid

Expression for Coloboma of Inferior Eyelid

Search GEO for disease gene expression data for Coloboma of Inferior Eyelid.

Pathways for Coloboma of Inferior Eyelid

GO Terms for Coloboma of Inferior Eyelid

Sources for Coloboma of Inferior Eyelid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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