Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Deafness (D003638)
Parent Node: Growth Disorders (D006130)
Parent Node: Hip Dislocation, Congenital (D006618)
..Starting node ..Coxoauricular Syndrome (C565148)
Child Nodes:
Sister Nodes:
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Carnevale syndrome (C535586)
..CODAS syndrome (C536434)
..Coxoauricular Syndrome (C565148)
..DEVELOPMENTAL DYSPLASIA OF THE HIP 1 (OMIM:142700)
..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..Dwarfism tall vertebrae (C535725)
..Dwarfism, Proportionate, with Hip Dislocation (C565614)
..Hip Dysplasia, Beukes Type (C564185)
..Ho Kaufman Mcalister syndrome (C538325)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2798

Name:

Coxoauricular Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D006130|MESH:D006618

TreeNumbers:

C05.660.449/C565148 |C09.218.458.341.186/C565148 |C10.597.751.418.341.186/C565148 |C16.131.621.449/C565148 |C23.550.393/C565148 |C23.888.592.763.393.341.186/C565148

Synonyms:

Slim Mappings:

Reference:

MedGen: C565148
MeSH: C565148
OMIM: 122780;

Genes:

Phenotypes

1	HP:0000365	Hearing impairment
2	HP:0002827	Hip dislocation
3	HP:0008551	Microtia
4	HP:0004322	Short stature

Disease Causing ClinVar Variants