INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS

FAMILIAL DYSAUTONOMIA, TYPE II

http://purl.bioontology.org/ontology/OMIM/256800

FAMILIAL DYSAUTONOMIA, TYPE II

HSAN IV

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV

CIPA

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS

HSAN4

C0020074

1q21-q22

NTRK1

TRKA

http://purl.bioontology.org/ontology/OMIM/MTHU001816

http://purl.bioontology.org/ontology/OMIM/MTHU045563

http://purl.bioontology.org/ontology/OMIM/MTHU010610

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU010606

http://purl.bioontology.org/ontology/OMIM/MTHU010589

http://purl.bioontology.org/ontology/OMIM/MTHU010011

http://purl.bioontology.org/ontology/OMIM/MTHU010593

http://purl.bioontology.org/ontology/OMIM/MTHU010594

http://purl.bioontology.org/ontology/OMIM/MTHU008082

http://purl.bioontology.org/ontology/OMIM/MTHU010607

http://purl.bioontology.org/ontology/OMIM/MTHU010592

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU010599

http://purl.bioontology.org/ontology/OMIM/MTHU010604

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

http://purl.bioontology.org/ontology/OMIM/MTHU010596

http://purl.bioontology.org/ontology/OMIM/MTHU010608

http://purl.bioontology.org/ontology/OMIM/MTHU010588

http://purl.bioontology.org/ontology/OMIM/MTHU010591

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU001887

http://purl.bioontology.org/ontology/OMIM/MTHU001889

http://purl.bioontology.org/ontology/OMIM/MTHU010611

http://purl.bioontology.org/ontology/OMIM/MTHU010587

http://purl.bioontology.org/ontology/OMIM/MTHU010598

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

http://purl.bioontology.org/ontology/OMIM/MTHU037798

http://purl.bioontology.org/ontology/OMIM/MTHU010603

http://purl.bioontology.org/ontology/OMIM/MTHU010602

http://purl.bioontology.org/ontology/OMIM/MTHU010590

http://purl.bioontology.org/ontology/OMIM/MTHU036408

http://purl.bioontology.org/ontology/OMIM/MTHU010586

http://purl.bioontology.org/ontology/OMIM/MTHU010597

http://purl.bioontology.org/ontology/OMIM/MTHU010605

Phenotype description, molecular basis known.

256800

3

pound

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS

Onset in infancy [MISCELLANEOUS]

Accidental injury to the self (mouth, digits) has been referred to by some as 'self-mutilation' [MISCELLANEOUS]

Caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (NTRK1, 191315.0001) [MOLECULAR BASIS]

T047