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:
expandBrachydactyly (D059327)
Parent Node:
expandDevelopmental Disabilities (D002658)
..Starting node
..expandThumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)

       Child Nodes:



 Sister Nodes: 
..expandAbuse dwarfism syndrome (C535569)
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandArginine:Glycine Amidinotransferase Deficiency (C567192)
..expandBagatelle Cassidy syndrome (C537796)
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandCerebellar Hypoplasia (C562568)
..expandChitayat Moore Del Bigio syndrome (C535927)
..expandChitty Hall Webb syndrome (C535929)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandChromosome 3q29 Deletion Syndrome (C567184)
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandCohen syndrome (C536438)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandForebrain Defects (C566067)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandFragile Site 16p12 (C565001)
..expandGrowth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandMalpuech facial clefting syndrome (C535704)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..expandNon-lissencephalic cortical dysplasia (C536243)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandOliver-McFarlane syndrome (C536554)
..expandPartington Anderson syndrome (C536299)
..expandPlantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRAJAB SYNDROME (OMIM:613658)
..expandRefsum disease with increased pipecolic acidemia (C535517)
..expandRoifman-Chitayat Syndrome (C567641)
..expandTer Haar syndrome (C537274)
..expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..expandThumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11033
Name:Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D059327
TreeNumbers:C05.660.585.262/C566053 |C16.131.621.585.262/C566053 |F03.550.362/C566053
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease
Reference: MedGen: C566053
MeSH: C566053
OMIM: 188201;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001263Global developmental delay
3 HP:0001249Intellectual disability
4 HP:0009371Type A1 brachydactyly
Disease Causing ClinVar Variants