Disease Browser
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Parent Node: Brachydactyly (D059327) | Parent Node: Developmental Disabilities (D002658) | ..Starting node ..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
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Sister Nodes: | ..Abuse dwarfism syndrome (C535569)
| ..Al Gazali Sabrinathan Nair syndrome (C535617)
| ..Arginine:Glycine Amidinotransferase Deficiency (C567192)
| ..Bagatelle Cassidy syndrome (C537796)
| ..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
| ..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
| ..Cerebellar Hypoplasia (C562568)
| ..Chitayat Moore Del Bigio syndrome (C535927)
| ..Chitty Hall Webb syndrome (C535929)
| ..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
| ..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
| ..Chromosome 17p13.3 Duplication Syndrome (C567705)
| ..Chromosome 3q29 Deletion Syndrome (C567184)
| ..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
| ..Cohen syndrome (C536438)
| ..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Forebrain Defects (C566067)
| ..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
| ..Fragile Site 16p12 (C565001)
| ..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
| ..Grubben de Cock Borghgraef syndrome (C537621)
| ..Malpuech facial clefting syndrome (C535704)
| ..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
| ..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
| ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
| ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
| ..Non-lissencephalic cortical dysplasia (C536243)
| ..Obesity, Hyperphagia, and Developmental Delay (C563938)
| ..Oliver-McFarlane syndrome (C536554)
| ..Partington Anderson syndrome (C536299)
| ..Plantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..RAJAB SYNDROME (OMIM:613658)
| ..Refsum disease with increased pipecolic acidemia (C535517)
| ..Roifman-Chitayat Syndrome (C567641)
| ..Ter Haar syndrome (C537274)
| ..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
| ..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | | Disease Causing ClinVar Variants | |
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