Immunodeficiency 26 with or without neurologic abnormalities

Preferred Label : Immunodeficiency 26 with or without neurologic abnormalities;

Symbol : IMD26;

CISMeF acronym : IMD26;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA-activated protein kinase, catalytic subunit gene (PRKDC, 600899.0001);

Prefixed ID : #615966;

Détails

Origin ID

615966;

UMLS CUI

C4014833;

Automatic exact mappings (from CISMeF team)
- PRKDC wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Immunodeficiency 26 with or without Neurologic Abnormalities [NCIt concept]
- Severe combined immunodeficiency due to DNA-PKcs deficiency [ORDO Disease]
- immunodeficiency 26 [DO Concept]
DO Cross reference
- immunodeficiency 26 [DO Concept]
Genes related to phenotype
- Protein kinase, dna-activated, catalytic subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Deeply set eye [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Overlapping fingers [HPO term]
- Pachygyria [HPO term]
- Prominent forehead [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe combined immunodeficiency [HPO term]
- Short chin [HPO term]
- Simplified gyral pattern [HPO term]
- Thin upper lip vermilion [HPO term]
- Visual impairment [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormal natural killer cell morphology [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to DNA-PKcs deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 26 with or without Neurologic Abnormalities [NCIt concept]
- immunodeficiency 26 [DO Concept]

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

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