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Ontology Browser

Term:
distal arthrogryposis type 1C (DOID:0112190)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 1C  
A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2. (DO)
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
hypophosphatasia +   
McCune Albright syndrome  
progeria +   
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8  
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: DA1C
Primary IDs: OMIM:619110
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/32707087/ "DO" "DO"

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