Aliases & Classifications for Rhiny

MalaCards integrated aliases for Rhiny:

Name: Rhiny 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
rhiny:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 180360
MedGen 41 C1867222

Summaries for Rhiny

MalaCards based summary : Rhiny is related to craniorhiny. Related phenotypes are inguinal hernia and short nose

More information from OMIM: 180360

Related Diseases for Rhiny

Diseases related to Rhiny via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniorhiny 10.0

Symptoms & Phenotypes for Rhiny

Human phenotypes related to Rhiny:

31
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 short nose 31 HP:0003196
3 anteverted nares 31 HP:0000463
4 thin vermilion border 31 HP:0000233

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen:
inguinal hernia

Mouth:
narrow lips
downturned outer lip margins

Nose:
small nares
extremely short nose
upturned nose
nares directed anteriorly
long thin philtrum

Clinical features from OMIM®:

180360 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rhiny

Genetic Tests for Rhiny

Anatomical Context for Rhiny

Publications for Rhiny

Articles related to Rhiny:

# Title Authors PMID Year
1
Noses nobody knows--for real: rhiny and craniorhiny. 61 57
1897582 1991

Variations for Rhiny

Expression for Rhiny

Search GEO for disease gene expression data for Rhiny.

Pathways for Rhiny

GO Terms for Rhiny

Sources for Rhiny

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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