Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Hypospadias (D007021)
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Muscle Hypotonia (D009123)
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Scalp ear nipple syndrome (C536623)

       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:10003
Name:Scalp ear nipple syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D007021|MESH:D009123
TreeNumbers:C10.597.613.575/C536623 |C12.294.494.400/C536623 |C12.706.516/C536623 |C13.351.875.466/C536623 |C16.131.077/C536623 |C16.131.939.516/C536623 |C23.888.592.608.575/C536623
Synonyms:Finlay-Marks Syndrome |Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples |Scalp-Ear-Nipple Syndrome
Slim Mappings:Congenital abnormality|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536623
MeSH: C536623
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants