Disease: Hypogonadotropic Hypogonadism 8 With Or Without Anosmia

Name Hypogonadotropic Hypogonadism 8 With Or Without Anosmia

Synonyms -

Classification endocrine, genetic, gynaecological and obstetric, infertility

Phenotypes Anosmia; Autosomal recessive inheritance; Azoospermia; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Gonadotropin deficiency; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the uterus; Micropenis; Osteopenia; Primary amenorrhea

Associated Genes KISS1R (Withdrawn symbols: AXOR12, GPR54, HOT7T175 )

Mouse Orthologs Kiss1r (Withdrawn symbols: Gpr54 )

Source OMIM:614837 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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