Mckusick-kaufman syndrome

Preferred Label : Mckusick-kaufman syndrome;

Symbol : MKKS;

CISMeF acronym : HMCS; MKKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kaufman-mckusick syndrome; Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; HMCS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MKKS gene (MKKS, 604896.0001);

Prefixed ID : #236700;

Détails

Origin ID

236700;

UMLS CUI

C0948368;

Automatic exact mappings (from CISMeF team)
- MAP kinase kinase activity [GO term]
- MKKS centrosomal shuttling protein [ORDO Gene]
- MKKS centrosomal shuttling protein [HGNC gene]
- molybdenum cofactor sulfurase [ORDO Gene]
Currated CISMeF NLP mapping
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) [SNOMED CT concept]
- Kaufman-McKusick syndrome [MedDRA Preferred Term]
- McKusick Kaufman syndrome [Disease (Nov.)]
- McKusick Kaufman syndrome [ICD-11 More detail]
- McKusick Kaufman syndrome [MeSH concept]
- McKusick kaufman syndrome [MeSH Supplementary Concept]
- McKusick-Kaufman syndrome [DO Concept]
- McKusick-Kaufman syndrome [ORDO Disease]
DO Cross reference
- McKusick-Kaufman syndrome [DO Concept]
Genes related to phenotype
- Mkks centrosomal shuttling protein [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Aganglionic megacolon [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Edema [HPO term]
- Hydrometrocolpos [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Mesoaxial hand polydactyly [HPO term]
- Pedal edema [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Rectovaginal fistula [HPO term]
- Syndactyly [HPO term]
- Transverse vaginal septum [HPO term]
- Vaginal atresia [HPO term]
- Vesicovaginal fistula [HPO term]
ORDO concept(s)
- McKusick-Kaufman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) [SNOMED CT concept]
- Kaufman-McKusick syndrome [MedDRA Preferred Term]
- McKusick Kaufman syndrome [MeSH concept]
- McKusick Kaufman syndrome [Disease (Nov.)]
- McKusick Kaufman syndrome [ICD-11 More detail]
- McKusick kaufman syndrome [MeSH Supplementary Concept]
- McKusick-Kaufman syndrome [ORDO Disease]
- McKusick-Kaufman syndrome [DO Concept]

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