Kallmann syndrome with spastic paraplegia

Preferred Label : Kallmann syndrome with spastic paraplegia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spastic paraplegia-kallmann syndrome;

Inheritance : X-linked (Xp22.3);

Prefixed ID : 308750;

Details

Origin ID

308750;

UMLS CUI

C1839911;

Automatic exact mappings (from CISMeF team)
- Spastic paraplegia with Kallmann syndrome [MeSH concept]
- spastic paraplegia with kallmann syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anosmia [HPO term]
- Ataxia [HPO term]
- Bimanual synkinesia [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating follicle stimulating hormone concentration [HPO term]
- Decreased circulating luteinizing hormone level [HPO term]
- Eunuchoid habitus [HPO term]
- Gynecomastia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypothalamic gonadotropin-releasing hormone deficiency [HPO term]
- Leydig cell insensitivity to gonadotropin [HPO term]
- Micropenis [HPO term]
- Olfactory lobe agenesis [HPO term]
- Pes cavus [HPO term]
- Sparse pubic hair [HPO term]
- Spastic paraplegia [HPO term]
- Testicular atrophy [HPO term]
- Unilateral renal agenesis [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia with Kallmann syndrome [MeSH concept]
- spastic paraplegia with kallmann syndrome [MeSH Supplementary Concept]

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