Hypogonadotropic hypogonadism 23 with or without anosmia

Preferred Label : Hypogonadotropic hypogonadism 23 with or without anosmia;

Symbol : HH23;

CISMeF acronym : HH23;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fertile eunuch syndrome; Pasqualini syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the luteinizing hormone beta-polypeptide gene (LHB, 152780.0001);

Prefixed ID : #228300;

Détails

Origin ID

228300;

UMLS CUI

C0271582;

Automatic exact mappings (from CISMeF team)
- Hypopituitarism [ICD-10 Sub-category]
- Normosmic congenital hypogonadotropic hypogonadism [ORDO Disease]
Currated CISMeF NLP mapping
- Fertile eunuch syndrome [MeSH concept]
- Isolated lutropin deficiency (disorder) [SNOMED CT concept]
- Leydig cell hypoplasia due to LHB deficiency [ORDO Disease]
- fertile eunuch syndrome [MeSH Supplementary Concept]
- hypogonadotropic hypogonadism 23 with or without anosmia [DO Concept]
- isolated lutropin deficiency [SNOMED Notion]
DO Cross reference
- hypogonadotropic hypogonadism 23 with or without anosmia [DO Concept]
Genes related to phenotype
- Luteinizing hormone, beta polypeptide [OMIM gene]
HPO term(s)
- Abnormal spermatogenesis [HPO term]
- Abnormality of the Leydig cells [HPO term]
- Abnormality of the sense of smell [HPO term]
- Androgen insufficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Decreased circulating dihydrotestosterone concentration [HPO term]
- Decreased circulating luteinizing hormone level [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Delayed puberty [HPO term]
- Early young adult onset [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Gynecomastia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Male hypogonadism [HPO term]
- Micropenis [HPO term]
- Oligomenorrhea [HPO term]
- Ovarian cyst [HPO term]
- Secondary amenorrhea [HPO term]
- Sparse axillary hair [HPO term]
- Sparse pubic hair [HPO term]
- Testicular microlithiasis [HPO term]
ORDO concept(s)
- Leydig cell hypoplasia due to LHB deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fertile eunuch syndrome [MeSH concept]
- Isolated lutropin deficiency (disorder) [SNOMED CT concept]
- Leydig cell hypoplasia due to LHB deficiency [ORDO Disease]
- fertile eunuch syndrome [MeSH Supplementary Concept]
- hypogonadotropic hypogonadism 23 with or without anosmia [DO Concept]
- isolated lutropin deficiency [SNOMED Notion]

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