Mucopolysaccharidosis, type ix

Preferred Label : Mucopolysaccharidosis, type ix;

Symbol : MPS9;

CISMeF acronym : MPS9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mps ix; Hyaluronidase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #601492;

Détails

Origin ID

601492;

UMLS CUI

C1291490;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis IX [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Deficiency of hyaluronoglucosaminidase (disorder) [SNOMED CT concept]
- Hyaluronidase deficiency [ORDO Disease]
- Mucopolysaccharidosis Type IX [NCIt concept]
- Mucopolysaccharidosis type 9 [ICD-11 More detail]
- hyaluronidase deficiency [MeSH Supplementary Concept]
- hyaluronidase deficiency [MeSH concept]
DO Cross reference
- mucopolysaccharidosis IX [DO Concept]
Genes related to phenotype
- Hyaluronoglucosaminidase 1 [OMIM gene]
HPO term(s)
- Acetabular erosions [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Chondrocalcinosis [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Juvenile onset [HPO term]
- Periarticular soft-tissue mass [HPO term]
- Popliteal synovial cyst [HPO term]
- Recurrent otitis media [HPO term]
- Short stature [HPO term]
- Submucous cleft hard palate [HPO term]
ORDO concept(s)
- Hyaluronidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of hyaluronoglucosaminidase (disorder) [SNOMED CT concept]
- Hyaluronidase deficiency [ORDO Disease]
- Mucopolysaccharidosis Type IX [NCIt concept]
- Mucopolysaccharidosis type 9 [ICD-11 More detail]
- hyaluronidase deficiency [MeSH Supplementary Concept]
- hyaluronidase deficiency [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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