Phosphoserine phosphatase deficiency

Preferred Label : Phosphoserine phosphatase deficiency;

Symbol : PSPHD;

CISMeF acronym : PSPHD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoserine phosphatase gene (PSPH, 172480.0001);

Laboratory abnormalities : Decreased plasma glycine; Decreased plasma serine;

Prefixed ID : #614023;

Details

Origin ID

614023;

UMLS CUI

C1291463;

Currated CISMeF NLP mapping
- 3 phosphoserine phosphatase deficiency [Disease (Nov.)]
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form [ORDO Disease]
- Deficiency of phosphoserine phosphatase (disorder) [SNOMED CT concept]
- PSPH deficiency [DO Concept]
DO Cross reference
- PSPH deficiency [DO Concept]
Genes related to phenotype
- Phosphoserine phosphatase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Postnatal growth retardation [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form [ORDO Disease]
See also inter- (CISMeF)
- Deficiency of phosphoserine phosphatase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 phosphoserine phosphatase deficiency [Disease (Nov.)]
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form [ORDO Disease]
- Deficiency of phosphoserine phosphatase (disorder) [SNOMED CT concept]
- PSPH deficiency [DO Concept]

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