Poikiloderma with neutropenia

Preferred Label : Poikiloderma with neutropenia;

Symbol : PN;

CISMeF acronym : PN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Poikiloderma with neutropenia, clericuzio-type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 16 open reading frame 57 gene (C16ORF57, 613276.0001);

Laboratory abnormalities : Neutropenia;

Prefixed ID : #604173;

Details

Origin ID

604173;

UMLS CUI

C1858723;

Automatic exact mappings (from CISMeF team)
- Miles per hour (qualifier value) [SNOMED CT concept]
- POSTN wt Allele [NCIt concept]
- Periostin [NCIt concept]
- Peripheral Nerve Stimulation [NCIt concept]
- Person name [LOINC Property]
- Picture Naming Subtest (WPPSI-IV) [NCIt concept]
- Pitcairn [NCIt concept]
- Pneumonia [ICD-11 Category]
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
- U6 snRNA biogenesis phosphodiesterase 1 [HGNC gene]
- USB1 wt Allele [NCIt concept]
- granulocytes [MeSH Descriptor]
- nasal polyps [MeSH Descriptor]
- paranigral nucleus [UBERON concept]
- periostin [HGNC gene]
Currated CISMeF NLP mapping
- Poikiloderma with Neutropenia [NCIt concept]
- Poikiloderma with neutropaenia [ICD-11 More detail]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [DO Concept]
- poikiloderma with neutropenia [MeSH concept]
- poikiloderma with neutropenia [MeSH Supplementary Concept]
DO Cross reference
- poikiloderma with neutropenia [DO Concept]
Genes related to phenotype
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharitis [HPO term]
- Carious teeth [HPO term]
- Conjunctivitis [HPO term]
- Depressed nasal bridge [HPO term]
- Dermal atrophy [HPO term]
- Edema [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hyperkeratosis [HPO term]
- Hypertelorism [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Infantile onset [HPO term]
- Joint laxity [HPO term]
- Joint stiffness [HPO term]
- Leukopenia [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Nail dystrophy [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Neutropenia [HPO term]
- Palmoplantar keratoderma [HPO term]
- Plantar hyperkeratosis [HPO term]
- Poikiloderma [HPO term]
- Recurrent bronchopulmonary infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Reticular hyperpigmentation [HPO term]
- Retrognathia [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Skin rash [HPO term]
- Sparse eyebrow [HPO term]
- Sparse lateral eyebrow [HPO term]
- Splenomegaly [HPO term]
- Telangiectasia [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Poikiloderma with neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Poikiloderma with Neutropenia [NCIt concept]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [MeSH Supplementary Concept]
- poikiloderma with neutropenia [MeSH concept]
- poikiloderma with neutropenia [DO Concept]

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