Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Parent Node:
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Contracture (D003286)
..Starting node
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Macleod Fraser syndrome (C537715)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAlopecia contractures dwarfism mental retardation (C537051)
..expandArthropathy, Erosive (C565273)
..expandAxial mesodermal dysplasia spectrum (C537790)
..expandBethlem myopathy (C535436)
..expandBone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
..expandBowen syndrome (C538164)
..expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
..expandCongenital contractural arachnodactyly (C536211)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandContractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..expandDavenport Donlan syndrome (C535988)
..expandDupuytren Contracture (D004387) Child2
..expandDystonia with Ringbinden (C565608)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHip Contracture (D006616)
..expandHistiocytosis with joint contractures and sensorineural deafness (C538322)
..expandIida Kannari syndrome (C536284)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandIschemic Contracture (D054061)
..expandLethal Congenital Contractural Syndrome 3 (C566961)
..expandMacleod Fraser syndrome (C537715)
..expandMarden Walker like syndrome (C535909)
..expandMarden-Walker syndrome (C535910)
..expandMental retardation Mietens Weber type (C537444)
..expandMental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandMuscular dystrophy, tardive Emery-Dreifuss type, with contractures (C535734)
..expandMuscular dystrophy, tardive, Dreifuss-Emery type, with contractures (C538478)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSpastic Paraplegia 18, Autosomal Recessive (C567628)
..expandSpondylospinal Thoracic Dysostosis (C566622)
..expandStiff Skin Syndrome (C566112)
..expandTight skin contracture syndrome, lethal (C536920)
..expandWieacker syndrome (C536703)
..expandWinchester syndrome (C536709)
..expandWinter Harding Hyde syndrome (C536712)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6654
Name:Macleod Fraser syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D003286
TreeNumbers:C05.550.323/C537715 |C05.651.197/C537715
Synonyms:
Slim Mappings:Musculoskeletal disease
Reference: MedGen: C537715
MeSH: C537715
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants