NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
HSAN3
http://purl.bioontology.org/ontology/OMIM/223900
FD
RILEY-DAY SYNDROME
DYSAUTONOMIA, FAMILIAL
DYS
HSAN III
C0013364
9q31
IKBKAP
IKAP
ELP1
http://purl.bioontology.org/ontology/OMIM/MTHU007107
http://purl.bioontology.org/ontology/OMIM/MTHU011713
http://purl.bioontology.org/ontology/OMIM/MTHU013342
http://purl.bioontology.org/ontology/OMIM/MTHU013357
http://purl.bioontology.org/ontology/OMIM/MTHU013348
http://purl.bioontology.org/ontology/OMIM/MTHU013365
http://purl.bioontology.org/ontology/OMIM/MTHU008070
http://purl.bioontology.org/ontology/OMIM/MTHU013360
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU002508
http://purl.bioontology.org/ontology/OMIM/MTHU013346
http://purl.bioontology.org/ontology/OMIM/MTHU013367
http://purl.bioontology.org/ontology/OMIM/MTHU013361
http://purl.bioontology.org/ontology/OMIM/MTHU013354
http://purl.bioontology.org/ontology/OMIM/MTHU009068
http://purl.bioontology.org/ontology/OMIM/MTHU037393
http://purl.bioontology.org/ontology/OMIM/MTHU000328
http://purl.bioontology.org/ontology/OMIM/MTHU041865
http://purl.bioontology.org/ontology/OMIM/MTHU013341
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU013353
http://purl.bioontology.org/ontology/OMIM/MTHU013343
http://purl.bioontology.org/ontology/OMIM/MTHU013356
http://purl.bioontology.org/ontology/OMIM/MTHU013345
http://purl.bioontology.org/ontology/OMIM/MTHU013358
http://purl.bioontology.org/ontology/OMIM/MTHU013344
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU013352
http://purl.bioontology.org/ontology/OMIM/MTHU013349
http://purl.bioontology.org/ontology/OMIM/MTHU037392
http://purl.bioontology.org/ontology/OMIM/MTHU002523
http://purl.bioontology.org/ontology/OMIM/MTHU041866
http://purl.bioontology.org/ontology/OMIM/MTHU013359
http://purl.bioontology.org/ontology/OMIM/MTHU013350
http://purl.bioontology.org/ontology/OMIM/MTHU036678
http://purl.bioontology.org/ontology/OMIM/MTHU013351
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU013355
http://purl.bioontology.org/ontology/OMIM/MTHU036888
http://purl.bioontology.org/ontology/OMIM/MTHU013347
http://purl.bioontology.org/ontology/OMIM/MTHU013366
http://purl.bioontology.org/ontology/OMIM/MTHU001720
Phenotype description, molecular basis known.
223900
3
pound
Onset at birth [MISCELLANEOUS]
Caused by mutation in the elongator complex protein 1 gene (ELP1, 603722.0001) [MOLECULAR BASIS]
Increased prevalence in persons of Ashkenazi Jewish descent [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
T047