CuraTogether

INDRA statement curation with Jev

Review molecular statements against their evidence. Jev suggests accept or reject, shows the probability of each choice, and can identify a rejection reason. You make the final call.

autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.

neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

Research project for neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

46,XY sex reversal 11

Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.

visceral neuropathy, familial, 1, autosomal recessive

A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.

Martsolf syndrome 1

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

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