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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Developmental Disabilities (D002658)
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Hearing Loss, Bilateral (D006312)
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Hypertelorism (D006972)
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Limb Deformities, Congenital (D017880)
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Megalencephaly (D058627)
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Bagatelle Cassidy syndrome (C537796)

       Child Nodes:



 Sister Nodes: 
..expandBagatelle Cassidy syndrome (C537796)
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..expandEhlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFryns Macrocephaly (C563963)
..expandHemimegalencephaly (D065705) Child1
..expandKniest like dysplasia lethal (C537208)
..expandMacrocephaly Autism Syndrome (C565342)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMacrocephaly, benign familial (C537717)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMegalencephaly cutis marmorata telangiectatica congenita (C536142)
..expandMegalencephaly with Dysmyelination (C565408)
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandNeuhauser syndrome (C536143)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandVater Association With Hydrocephalus (C564752)
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1133
Name:Bagatelle Cassidy syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D006312|MESH:D006972|MESH:D017880|MESH:D058627
TreeNumbers:C05.116.099.370.231.480/C537796 |C05.660.207.231.480/C537796 |C05.660.207.536/C537796 |C05.660.585/C537796 |C09.218.458.341.374/C537796 |C10.500.507.400.249/C537796 |C10.597.751.418.341.374/C537796 |C16.131.621.207.231.480/C537796 |C16.131.621.207.532/C537796 |C1
Synonyms:Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay |Macrocephaly short limbs deafness
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537796
MeSH: C537796
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants