{ "id": 16076, "label": "constitutional neutropenia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015134", "properties": { "xrefs": [ "GARD:0019809", "MEDGEN:1785816", "NCIT:C61242", "Orphanet:101987", "UMLS:C3805116", "icd11.foundation:87096615" ], "synonyms": [ "congenital neutropenia", "genetic infantile agranulocytosis", "infantile genetic agranulocytosis", "Kostmann disease", "Kostmann neutropenia", "Kostmann syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 3689, "label": "neutropenia", "isLeaf": false, "isRoot": false, "parents": [ 3806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1227", "HP:0001875", "ICD9:288.0", "ICD9:288.00", "MEDGEN:163121", "MESH:D009503", "SCTID:303011007", "UMLS:C0853697", "icd11.foundation:926492960" ], "synonyms": [ "neutropenia", "neutropenic disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A decrease in the number of neutrophils found in the blood." }, "child_count": 4, "reference_id": "MONDO:0001475" }, { "id": 10564, "label": "congenital hematological disorder", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:760584", "NCIT:C104003", "UMLS:C3267032" ], "synonyms": [ "congenital haematological system disease", "congenital hematological disorder", "congenital hematological system disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disorder of the blood that is present at birth." }, "child_count": 21, "reference_id": "MONDO:0009332" } ], "children": [ { "id": 9409, "label": "cyclic hematopoiesis", "isLeaf": true, "isRoot": false, "parents": [ 16076, 29331 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5339", "GARD:0006229", "ICD10CM:D70.4", "ICD9:288.02", "MEDGEN:65121", "MESH:C536227", "MedDRA:10053176", "NANDO:1200354", "NANDO:2200746", "NCIT:C3820", "OMIM:162800", "Orphanet:2686", "SCTID:191347008", "UMLS:C0221023" ], "synonyms": [ "CH", "CN", "cyclic agranulocytosis", "cyclic hematopoiesis", "dysplasia, myelocytic periodic", "neutropenia, cyclic", "periodic neutropenia", "cyclic neutropenia", "neutropenia cyclic" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." }, "child_count": 0, "reference_id": "MONDO:0008090" }, { "id": 10221, "label": "Chediak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16355, 17626, 17972, 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2935", "GARD:0006035", "ICD10CM:E70.330", "MEDGEN:3347", "MESH:D002609", "MedDRA:10008415", "NANDO:1200350", "NANDO:1200639", "NANDO:2200724", "NCIT:C2941", "NORD:921", "OMIM:214500", "Orphanet:167", "SCTID:111396008", "UMLS:C0007965" ], "synonyms": [ "CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak Higashi Syndrome", "Chediak Higashi syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi syndrome", "Chédiak-Higashi-Steinbrink syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." }, "child_count": 0, "reference_id": "MONDO:0008963" }, { "id": 10254, "label": "Cohen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16087, 24320 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111590", "GARD:0006126", "ICD9:759.89", "MEDGEN:78539", "MESH:C536438", "MedDRA:10049066", "NANDO:2200750", "NORD:986", "OMIM:216550", "Orphanet:193", "SCTID:56604005", "UMLS:C0265223", "icd11.foundation:1188737383" ], "synonyms": [ "Cohen syndrome", "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "COH1", "Chs1", "Chs1, formerly", "Coh", "hypotonia, obesity, and prominent incisors", "pepper syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." }, "child_count": 0, "reference_id": "MONDO:0008999" }, { "id": 10528, "label": "glycogen storage disease Ib", "isLeaf": true, "isRoot": false, "parents": [ 16076, 21199 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081330", "DOID:0081331", "GARD:0002515", "MEDGEN:78644", "MESH:C562594", "NANDO:1200841", "NANDO:2200754", "NANDO:2201154", "NCIT:C122661", "OMIM:232220", "OMIM:232240", "Orphanet:79259", "SCTID:237965005", "SCTID:30102006", "UMLS:C0268146" ], "synonyms": [ "G6P deficiency type IB", "G6P translocase deficiency", "G6PT deficiency", "GSD Ib", "GSD due to G6P deficiency type IB", "GSD due to G6PT deficiency", "GSD type 1 non a", "GSD type 1b", "GSD type IB", "GSD1B", "GSDIb", "glucose-6-phosphate transport defect", "glycogen storage disease Ib", "glycogen storage disease Ic", "glycogen storage disease due to G6P deficiency type IB", "glycogen storage disease type 1b", "glycogen storage disease type I non-a", "glycogen storage disease type IB", "glycogen storage disease type Ic", "glycogenosis due to glucose-6-phosphatase deficiency type 1B", "glycogenosis due to glucose-6-phosphatase transport defect type IB", "glycogenosis type 1b", "glycogenosis type IB", "GSD Ic", "GSD1C", "Gsd1C" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A type of glycogenosis due to G6P deficiency." }, "child_count": 0, "reference_id": "MONDO:0009288" }, { "id": 10747, "label": "Lichtenstein syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16076 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003248", "MEDGEN:340889", "MESH:C535894", "OMIM:246550", "Orphanet:2390", "SCTID:763668009", "UMLS:C1855502" ], "synonyms": [ "Lichtenstein syndrome", "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009523" }, { "id": 11698, "label": "Barth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16076, 16607, 16878, 17675, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050476", "GARD:0005890", "ICD10CM:E78.71", "MEDGEN:107893", "MESH:D056889", "NANDO:1200991", "NANDO:2200751", "NCIT:C84585", "NORD:840", "OMIM:302060", "Orphanet:111", "SCTID:297231002", "UMLS:C0574083", "icd11.foundation:452199926" ], "synonyms": [ "3-methylglutaconic aciduria type 2", "BTHS", "Barth syndrome", "Barth syndrome, X-linked recessive", "MGA2", "X-linked cardioskeletal myopathy and neutropenia", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "cardioskeletal myopathy-neutropenia syndrome", "3-Methylglutaconic aciduria, type 2", "3-methylglutaconic aciduria type II", "BARTH syndrome", "Mga, type 2", "TAZ defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." }, "child_count": 0, "reference_id": "MONDO:0010543" }, { "id": 12510, "label": "poikiloderma with neutropenia", "isLeaf": true, "isRoot": false, "parents": [ 16076, 16913, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060551", "GARD:0004085", "MEDGEN:388129", "NANDO:2200749", "NCIT:C177535", "NORD:2022", "OMIM:604173", "Orphanet:221046", "UMLS:C1858723" ], "synonyms": [ "Prurigo Nodularis", "poikiloderma with neutropenia", "poikiloderma with neutropenia, Clericuzio type", "Clericuzio type poikiloderma with neutropenia", "PN", "poikiloderma with neutropenia Clericuzio type", "poikiloderma with neutropenia, Clericuzio-type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." }, "child_count": 0, "reference_id": "MONDO:0011405" }, { "id": 12951, "label": "Griscelli syndrome type 2", "isLeaf": true, "isRoot": false, "parents": [ 16076, 16355, 18403 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060833", "GARD:0004483", "MEDGEN:357030", "MESH:C537302", "NANDO:2200732", "NCIT:C111814", "OMIM:607624", "Orphanet:79477", "UMLS:C1868679", "icd11.foundation:1836541365" ], "synonyms": [ "GS2", "Griscelli syndrome type 2", "Griscelli syndrome with hemophagocytic syndrome", "Griscelli-PruniC)ras syndrome type 2", "Griscelli-Pruniéras syndrome type 2", "Griscelli-Pruni��ras syndrome type 2", "PAID syndrome", "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome", "partial albinism and immunodeficiency syndrome", "Griscelli disease type 2", "Griscelli syndrome, type 2", "Paid syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." }, "child_count": 0, "reference_id": "MONDO:0011872" }, { "id": 13068, "label": "Hermansky-Pudlak syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16076, 16355, 19153 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060540", "GARD:0015026", "MEDGEN:374912", "MESH:C537709", "NANDO:2200733", "NCIT:C150368", "OMIM:608233", "Orphanet:183678", "Orphanet:664500", "UMLS:C1842362" ], "synonyms": [ "AP3B1 Hermansky-Pudlak syndrome", "HPS-2", "HPS2", "Hermansky-Pudlak syndrome 2", "Hermansky-Pudlak syndrome caused by mutation in AP3B1", "Hermansky-Pudlak syndrome type 2", "Hermansky Pudlak syndrome 2", "Hermansky-Pudlak syndrome with neutropenia", "Platelet defects and oculocutaneous albinism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." }, "child_count": 0, "reference_id": "MONDO:0011997" }, { "id": 13607, "label": "primary immunodeficiency syndrome due to p14 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16076 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016783", "MEDGEN:372135", "MESH:C563663", "NANDO:2200752", "OMIM:610798", "Orphanet:90023", "SCTID:718717004", "UMLS:C1835829", "icd11.foundation:813140844" ], "synonyms": [ "primary immunodeficiency syndrome due to LAMTOR2 deficiency", "primary immunodeficiency syndrome with short stature", "immunodeficiency due to defect in MAPBP-interacting PROTEIN", "immunodeficiency due to defect in Mapbp-interacting Protein" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." }, "child_count": 0, "reference_id": "MONDO:0012559" }, { "id": 17476, "label": "neutropenia-monocytopenia-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16076 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003982", "MEDGEN:1383523", "Orphanet:2690", "UMLS:C4518430" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." }, "child_count": 0, "reference_id": "MONDO:0017100" }, { "id": 18559, "label": "severe congenital neutropenia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16076 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050590", "GARD:0013592", "ICD9:288.01", "MEDGEN:343974", "MedDRA:10052210", "NANDO:1200353", "NANDO:2200745", "NCIT:C166152", "NORD:1705", "OMIMPS:202700", "Orphanet:42738", "SCTID:89655007", "UMLS:C1853118" ], "synonyms": [ "SCN", "Severe Chronic Neutropenia", "neutropenia, severe congenital" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 16, "reference_id": "MONDO:0018542" }, { "id": 29391, "label": "WHIM syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16076, 21279 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060591", "GARD:0009297", "MEDGEN:1778124", "MESH:C536697", "NORD:1849", "OMIM:193670", "Orphanet:51636", "SCTID:234571003", "UMLS:C5542296" ], "synonyms": [ "WHIM syndrome", "WHIM Syndrome", "WHIMS", "WILM", "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome", "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome", "Warts-infections-leukopenia-myelokatexis syndrome", "myelokathexis, isolated" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." }, "child_count": 0, "reference_id": "MONDO:8000006" } ], "roots": [ { "id": 3689, "label": "neutropenia" }, { "id": 10564, "label": "congenital hematological disorder" } ] }