Hand-foot-genital syndrome

Preferred Label : Hand-foot-genital syndrome;

Symbol : HFG;

CISMeF acronym : HFG; HFU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hand-foot-uterus syndrome; HFU;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox A13 gene (HOXA13, 142959.0001);

Prefixed ID : #140000;

Details

Origin ID

140000;

UMLS CUI

C1841679;

Automatic exact mappings (from CISMeF team)
- Hand-foot-uterus syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hand foot uterus syndrome [MeSH concept]
- Hand-foot-genital syndrome [MedDRA Preferred Term]
- Hand-foot-genital syndrome [ORDO Disease]
- Hand-foot-genital syndrome (disorder) [SNOMED CT concept]
- Hand-foot-uterus syndrome [ACR pathology]
- hand foot uterus syndrome [MeSH Supplementary Concept]
- hand-foot-genital syndrome [DO Concept]
DO Cross reference
- hand-foot-genital syndrome [DO Concept]
Genes related to phenotype
- Homeobox a13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Brachydactyly [HPO term]
- Chordee [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed tarsal ossification [HPO term]
- Hallux varus [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypospadias [HPO term]
- Longitudinal vaginal septum [HPO term]
- Micropenis [HPO term]
- Proximal placement of thumb [HPO term]
- Pseudoepiphyses [HPO term]
- Pyelonephritis [HPO term]
- Renal insufficiency [HPO term]
- Short 1st metacarpal [HPO term]
- Short 2nd toe [HPO term]
- Short 5th finger [HPO term]
- Short first metatarsal [HPO term]
- Short hallux [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Small thenar eminence [HPO term]
- Ulnar deviation of the 2nd finger [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Uterus didelphys [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Hand-foot-genital syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hand foot uterus syndrome [MeSH concept]
- Hand-foot-genital syndrome [MedDRA Preferred Term]
- Hand-foot-genital syndrome [ORDO Disease]
- Hand-foot-genital syndrome (disorder) [SNOMED CT concept]
- Hand-foot-uterus syndrome [ACR pathology]
- hand foot uterus syndrome [MeSH Supplementary Concept]
- hand-foot-genital syndrome [DO Concept]

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