46,xy sex reversal 7

Preferred Label : 46,xy sex reversal 7;

Symbol : SRXY7;

CISMeF acronym : GDXYM; SRXY7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GDXYM; 46,xy sex reversal, partial or complete, dhh-related; Gonadal dysgenesis, xy, male-limited; 46,xy gonadal dysgenesis, partial or complete, dhh-related;

Inheritance : Autosomal recessive; heterogeneous;

Prefixed ID : #233420;

Details

Origin ID

233420;

UMLS CUI

C1856273;

Currated CISMeF NLP mapping
- 46,XY gonadal dysgenesis, complete or partial, DHH-Related [MeSH concept]
- 46,XY gonadal dysgenesis, complete or partial, DHH-Related [MeSH Supplementary Concept]
- 46,XY sex reversal 7 [DO Concept]
DO Cross reference
- 46,XY sex reversal 7 [DO Concept]
Genes related to phenotype
- Desert hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Abnormality of the epididymis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Gonadal dysgenesis, male [HPO term]
- Gonadoblastoma [HPO term]
- Heterogeneous [HPO term]
- Hypoplasia of the fallopian tube [HPO term]
- Hypoplasia of the uterus [HPO term]
- Primary amenorrhea [HPO term]
- Sex reversal [HPO term]
- Streak ovary [HPO term]
ORDO concept(s)
- 46,XY complete gonadal dysgenesis [ORDO Disease]
See also inter- (CISMeF)
- DHH wt Allele [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY gonadal dysgenesis, complete or partial, DHH-Related [MeSH Supplementary Concept]
- 46,XY gonadal dysgenesis, complete or partial, DHH-Related [MeSH concept]
Validated automatic mappings to NTBT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY sex reversal [DO Concept]

Keyword's position in hierarchy(ies) :

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