Phenotypes associated with the disease specific granule deficiency 2 (OMIM:617475):
- Bone marrow maturation arrest (HP:0033606): Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:28369036)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 1/3. (PMID:28369036)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 2/3. (PMID:28369036)
- Intractable diarrhea (HP:0002041). Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Delayed umbilical cord separation (HP:0032434): Separation of the umbilical cord occurs at an abnormally late timepoint. Evidence: PCS. Frequency: 4/4. Onset: Neonatal onset (HP:0003623). (PMID:28369036)
- Neonatal omphalitis (HP:0032435): An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. Evidence: PCS. Frequency: 1/4. Onset: Neonatal onset (HP:0003623). (PMID:28369036)
- Absent neutrophil specific granules (HP:0012551): Lack of specific granules in neutrophils. Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Fragile nails (HP:0001808): Nails that easily break. Evidence: PCS. Frequency: 1/3. (PMID:28369036)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/4. (PMID:28369036)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 1/3. (PMID:28369036)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. (PMID:28369036)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 1/3. (PMID:28369036)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 4/4. (PMID:28369036)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 2/3. (PMID:28369036)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 1/3. (PMID:28369036)
- Simple ear (HP:0020206): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 2/2. (PMID:28369036)
- Tooth malposition (HP:0000692): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: PCS. Frequency: 2/2. (PMID:28369036)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/4. (PMID:28369036)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 2/2. (PMID:28369036)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28369036)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/4. (PMID:28369036)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: PCS. Frequency: 2/3. (PMID:28369036)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/4. (PMID:28369036)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 11/14. (PMID:28369036)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: PCS. (PMID:28369036)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 4/4. (PMID:28369036)