Pelger-huet anomaly

Preferred Label : Pelger-huet anomaly;

Symbol : PHA;

CISMeF acronym : PHA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the lamin B receptor gene (LBR, 600024.0001);

Prefixed ID : #169400;

Details

Origin ID

169400;

UMLS CUI

C0030779;

Automatic exact mappings (from CISMeF team)
- Hyposegmentation of neutrophil nuclei [HPO term]
- Pelger Huet Anomaly Measurement [NCIt concept]
- Progressive hemifacial atrophy [ORDO Disease]
- lectin, nos [SNOMED Notion]
- phytohemagglutinins [MeSH Descriptor]
- phytohemagglutinins [MeSH concept]
Currated CISMeF NLP mapping
- Pelger-Huet Anomaly [NCIt concept]
- Pelger-Huet anomaly [PASCAL descriptor]
- Pelger-Huet anomaly [DO Concept]
- Pelger-Huet anomaly [ICD-11 More detail]
- Pelger-Huet anomaly [MeSH concept]
- Pelger-Huët anomaly (disorder) [SNOMED CT concept]
- pelger huet anomaly [Disease (Nov.)]
- pelger-huet anomaly [MeSH Descriptor]
- pelger-huet anomaly [SNOMED Notion]
DO Cross reference
- Pelger-Huet anomaly [DO Concept]
False automatic mappings
- Phytohemagglutinin [NCIt concept]
Genes related to phenotype
- Lamin b receptor [OMIM gene]
HPO term(s)
- Abnormality of chromosome segregation [HPO term]
- Abnormality of neutrophils [HPO term]
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Depressed nasal bridge [HPO term]
- Eczema [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Frontal bossing [HPO term]
- Giant platelets [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hyperkyphosis [HPO term]
- Hypertelorism [HPO term]
- Hyposegmentation of neutrophil nuclei [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb hypertonia [HPO term]
- Macrocephaly [HPO term]
- Median cleft palate [HPO term]
- Mild short stature [HPO term]
- Mild thrombocytopenia [HPO term]
- Neutropenia [HPO term]
- Pes cavus [HPO term]
- Polydactyly [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short 3rd metacarpal [HPO term]
- Short 4th metacarpal [HPO term]
- Short 5th metacarpal [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Umbilical hernia [HPO term]
- Upper limb undergrowth [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelger-Huet Anomaly [NCIt concept]
- Pelger-Huet anomaly [MeSH concept]
- Pelger-Huet anomaly [DO Concept]
- Pelger-Huet anomaly [PASCAL descriptor]
- Pelger-Huët anomaly (disorder) [SNOMED CT concept]
- pelger huet anomaly [Disease (Nov.)]
- pelger-huet anomaly [SNOMED Notion]
- pelger-huet anomaly [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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