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:
expandFacies (D019066)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMuscle Hypotonia (D009123)
..Starting node
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)

       Child Nodes:



 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2848
Name:Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D009123|MESH:D019066
TreeNumbers:C10.597.613.575/C566543 |C23.550.291.812/C566543 |C23.550.393/C566543 |C23.888.592.608.575/C566543
Synonyms:
Slim Mappings:Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C566543
MeSH: C566543
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants