MCID: ARC022
MIFTS: 11

Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Auricular Abnormalities-Cleft Lip with or Without Cleft...

MalaCards integrated aliases for Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome:

Name: Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Auricular Abnormalities-Cleft Lip with or Without Cleft...

MalaCards based summary : Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome Affiliated tissues include skin, and related phenotypes are incomplete cleft of the upper lip and kyphosis

Related Diseases for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Symptoms & Phenotypes for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Human phenotypes related to Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 incomplete cleft of the upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0011340
2 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
7 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
8 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
9 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
10 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
11 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
12 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
13 increased nuchal translucency 58 31 frequent (33%) Frequent (79-30%) HP:0010880
14 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
15 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
16 hypopigmentation of the fundus 58 31 frequent (33%) Frequent (79-30%) HP:0007894
17 cervical ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000891
18 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
19 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
20 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
21 periauricular skin pits 58 31 frequent (33%) Frequent (79-30%) HP:0100277
22 oral cleft 58 Very frequent (99-80%)

Drugs & Therapeutics for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Search Clinical Trials , NIH Clinical Center for Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome

Genetic Tests for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Anatomical Context for Auricular Abnormalities-Cleft Lip with or Without Cleft...

MalaCards organs/tissues related to Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome:

40
Skin

Publications for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Variations for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Expression for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Search GEO for disease gene expression data for Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome.

Pathways for Auricular Abnormalities-Cleft Lip with or Without Cleft...

GO Terms for Auricular Abnormalities-Cleft Lip with or Without Cleft...

Sources for Auricular Abnormalities-Cleft Lip with or Without Cleft...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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