Hypogonadotropic hypogonadism 24 with or without anosmia

Preferred Label : Hypogonadotropic hypogonadism 24 with or without anosmia;

Symbol : HH24;

CISMeF acronym : HH24;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Follicle-stimulating hormone deficiency, isolated;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the follicle-stimulating hormone, beta-polypeptide gene (FSHB, 136530.0001);

Prefixed ID : #229070;

Détails

Origin ID

229070;

UMLS CUI

C5574957;

Automatic exact mappings (from CISMeF team)
- hypogonadotropic hypogonadism 24 without anosmia [DO Concept]
Currated CISMeF NLP mapping
- Follicle-stimulating hormone deficiency, isolated [MeSH concept]
- Isolated FSH deficiency [ICD-11 More detail]
- Isolated Follicle Stimulating Hormone Deficiency [NCIt concept]
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
- Isolated follicle stimulating hormone deficiency (disorder) [SNOMED CT concept]
- follicle-stimulating hormone deficiency, isolated [MeSH Supplementary Concept]
DO Cross reference
- hypogonadotropic hypogonadism 24 without anosmia [DO Concept]
Genes related to phenotype
- Follicle-stimulating hormone, beta polypeptide [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Decreased circulating follicle stimulating hormone concentration [HPO term]
- Decreased muscle mass [HPO term]
- Decreased testicular size [HPO term]
- Delayed skeletal maturation [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Hypogonadism [HPO term]
- Infertility [HPO term]
- Primary amenorrhea [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Abnormality of the sense of smell [HPO term]
ORDO concept(s)
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Follicle-stimulating hormone deficiency, isolated [MeSH concept]
- Isolated FSH deficiency [ICD-11 More detail]
- Isolated Follicle Stimulating Hormone Deficiency [NCIt concept]
- Isolated follicle stimulating hormone deficiency [ORDO Disease]
- Isolated follicle stimulating hormone deficiency (disorder) [SNOMED CT concept]
- follicle-stimulating hormone deficiency, isolated [MeSH Supplementary Concept]

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