has material basis in germline mutation in HAX1 Kostmann syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/8567 https://www.malacards.org/card/neutropenia_severe_congenital_3_autosomal_recessive_2 https://www.malacards.org/card/severe_congenital_neutropenia_3 DOID:0112133 OMIM:610738 Kostmann disease severe congenital neutropenia type 3 icd11.foundation:421553273 NCIT:C166153 Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. neutropenia, severe congenital, 3, autosomal recessive MEDGEN:1713491 MESH:C537592 agranulocytosis, infantile MONDO:0012548 infantile agranulocytosis SCN3 agranulocytosis infantile Orphanet:99749 UMLS:C5235141 severe congenital neutropenia autosomal recessive 3 neutropenia, severe congenital 3, autosomal recessive GARD:0000302 hereditary neoplastic syndrome autosomal recessive severe congenital neutropenia