46,xy gonadal dysgenesis with minifascicular neuropathy

Preferred Label : 46,xy gonadal dysgenesis with minifascicular neuropathy;

Symbol : GDMN;

Type : Phenotype, molecular basis known;

Prefixed ID : #607080;

Details

Origin ID

607080;

UMLS CUI

C5436061;

Currated CISMeF NLP mapping
- 46,XY gonadal dysgenesis - motor and sensory neuropathy [ICD-11 More detail]
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) [SNOMED CT concept]
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH concept]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH Supplementary Concept]
DO Cross reference
- 46,XY sex reversal [DO Concept]
Genes related to phenotype
- Desert hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Gonadal dysgenesis [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal tactile sensation [HPO term]
- Impaired distal vibration sensation [HPO term]
- Polyneuropathy [HPO term]
- Primary amenorrhea [HPO term]
ORDO concept(s)
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH Supplementary Concept]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH concept]
Validated automatic mappings to NTBT
- 46,XY sex reversal [DO Concept]

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