Hypophosphatasia, adult

Preferred Label : Hypophosphatasia, adult;

Symbol : HPPA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypophosphatasia, mild;

Included titles and symbols : Odontohypophosphatasia; HPPO;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in alkaline phosphatase gene (ALPL, 171760.0003);

Laboratory abnormalities : Decreased serum alkaline phosphatase; Elevated urinary phosphoethanolamine;

Prefixed ID : #146300;

Details

Origin ID

146300;

UMLS CUI

C0268413;

Automatic exact mappings (from CISMeF team)
- Odontohypophosphatasia [NCIt concept]
- Odontohypophosphatasia [ORDO Disease]
- Odontohypophosphatasia (disorder) [SNOMED CT concept]
- odontohypophosphatasia [MeSH concept]
- odontohypophosphatasia [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hypophosphatasia [ORDO Disease]
Currated CISMeF NLP mapping
- Adult hypophosphatasia [ORDO Disease]
- Adult hypophosphatasia (disorder) [SNOMED CT concept]
- adult hypophosphatasia [DO Concept]
- adult hypophosphatasia [SNOMED Notion]
- adult onset hypophosphatasia [Disease (Nov.)]
- hypophosphatasia, adult [MeSH concept]
- hypophosphatasia, adult [MeSH Supplementary Concept]
DO Cross reference
- adult hypophosphatasia [DO Concept]
Genes related to phenotype
- Alkaline phosphatase, liver [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Arthropathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Chondrocalcinosis [HPO term]
- Increased susceptibility to fractures [HPO term]
- Low alkaline phosphatase [HPO term]
- Osteomalacia [HPO term]
- Pathologic fracture [HPO term]
- Premature loss of permanent teeth [HPO term]
- Premature loss of primary teeth [HPO term]
- Recurrent fractures [HPO term]
- Rickets [HPO term]
ORDO concept(s)
- Adult hypophosphatasia [ORDO Disease]
- Hypophosphatasia [ORDO Disease]
- Odontohypophosphatasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult hypophosphatasia [ORDO Disease]
- Adult hypophosphatasia (disorder) [SNOMED CT concept]
- adult hypophosphatasia [SNOMED Notion]
- adult hypophosphatasia [DO Concept]
- adult onset hypophosphatasia [Disease (Nov.)]
- hypophosphatasia, adult [MeSH Supplementary Concept]
- hypophosphatasia, adult [MeSH concept]

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