Details of Disease | DrugMAP

General Information of Disease (ID: DISNCRZ4)

Disease Name	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Synonyms	46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy; 46XY gonadal dysgenesis with minifascicular neuropathy
Disease Hierarchy	DISLF3LT: 46,XY complete gonadal dysgenesis DIS78CGG: 46,XY disorder of sex development DISNCRZ4: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Disease Identifiers	MONDO ID MONDO_0011766 UMLS CUI C5436061 OMIM ID 607080 MedGen ID 1727162 Orphanet ID 168563

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHH	OT3B7721	Strong	Autosomal recessive	[1]
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References

1	Schwann cell-derived Desert hedgehog controls the development of peripheral nerve sheaths. Neuron. 1999 Aug;23(4):713-24. doi: 10.1016/s0896-6273(01)80030-1.