NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III

DYSAUTONOMIA, FAMILIAL

http://purl.bioontology.org/ontology/OMIM/223900

DYSAUTONOMIA, FAMILIAL

HSAN III

DYS

FD

RILEY-DAY SYNDROME

HSAN3

C0013364

9q31

IKAP

ELP1

IKBKAP

http://purl.bioontology.org/ontology/OMIM/MTHU036678

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU002523

http://purl.bioontology.org/ontology/OMIM/MTHU013344

http://purl.bioontology.org/ontology/OMIM/MTHU013348

http://purl.bioontology.org/ontology/OMIM/MTHU013342

http://purl.bioontology.org/ontology/OMIM/MTHU036888

http://purl.bioontology.org/ontology/OMIM/MTHU041866

http://purl.bioontology.org/ontology/OMIM/MTHU013366

http://purl.bioontology.org/ontology/OMIM/MTHU013356

http://purl.bioontology.org/ontology/OMIM/MTHU013360

http://purl.bioontology.org/ontology/OMIM/MTHU013354

http://purl.bioontology.org/ontology/OMIM/MTHU013352

http://purl.bioontology.org/ontology/OMIM/MTHU013358

http://purl.bioontology.org/ontology/OMIM/MTHU041865

http://purl.bioontology.org/ontology/OMIM/MTHU013346

http://purl.bioontology.org/ontology/OMIM/MTHU013350

http://purl.bioontology.org/ontology/OMIM/MTHU037393

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU008070

http://purl.bioontology.org/ontology/OMIM/MTHU002508

http://purl.bioontology.org/ontology/OMIM/MTHU007107

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU013341

http://purl.bioontology.org/ontology/OMIM/MTHU013359

http://purl.bioontology.org/ontology/OMIM/MTHU013353

http://purl.bioontology.org/ontology/OMIM/MTHU013351

http://purl.bioontology.org/ontology/OMIM/MTHU013357

http://purl.bioontology.org/ontology/OMIM/MTHU013347

http://purl.bioontology.org/ontology/OMIM/MTHU013345

http://purl.bioontology.org/ontology/OMIM/MTHU013349

http://purl.bioontology.org/ontology/OMIM/MTHU013343

http://purl.bioontology.org/ontology/OMIM/MTHU013367

http://purl.bioontology.org/ontology/OMIM/MTHU013355

http://purl.bioontology.org/ontology/OMIM/MTHU037392

http://purl.bioontology.org/ontology/OMIM/MTHU011713

http://purl.bioontology.org/ontology/OMIM/MTHU013361

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU013365

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU009068

Phenotype description, molecular basis known.

223900

3

pound

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III

Onset at birth [MISCELLANEOUS]

Caused by mutation in the elongator complex protein 1 gene (ELP1, 603722.0001) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

Increased prevalence in persons of Ashkenazi Jewish descent [MISCELLANEOUS]

T047