{"limit":20,"offset":0,"total":15,"items":[{"id":"MONDO:0019312","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome","description":"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.","xref":["DOID:3753","GARD:0006643","ICD10CM:E70.331","ICD9:270.2","MEDGEN:36313","MESH:D022861","MedDRA:10071775","NANDO:1200638","NCIT:C37261","OMIMPS:203300","Orphanet:79430","SCTID:9311003","UMLS:C0079504","icd11.foundation:2089801290"],"synonym":["HPS","Hermansky Pudlak syndrome"],"exact_synonym":["HPS"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["Hermansky Pudlak syndrome"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["doid_rare","gard_rare","ncit_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":105.180405,"matched_field":"name","match_type":"exact","highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"],"description":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> (HSP) is a multi-system disorder characterized by oculocutaneous albinism"],"synonym":["<em>Hermansky</em> <em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0008748","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 1","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene, causing defects of melanosomes and absence of platelet dense bodies. Core features include oculocutaneous albinism with nystagmus and reduced visual acuity, and a platelet‑type bleeding diathesis. Some individuals develop pulmonary fibrosis and/or granulomatous colitis.","xref":["DOID:0060539","GARD:0018331","MEDGEN:419514","MESH:C538539","NCIT:C150367","OMIM:203300","UMLS:C2931875"],"synonym":["HPS1","HPS1 Hermansky-Pudlak syndrome","HPS1-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 1","Hermansky-Pudlak syndrome caused by mutation in HPS1","albinism with hemorrhagic diathesis and pigmented","delta storage pool disease","reticuloendothelial cells"],"exact_synonym":["HPS1","HPS1 Hermansky-Pudlak syndrome","HPS1-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 1","Hermansky-Pudlak syndrome caused by mutation in HPS1","albinism with hemorrhagic diathesis and pigmented","delta storage pool disease","reticuloendothelial cells"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","ncit_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 1"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the HPS1 gene"],"synonym":["HPS1 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013557","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 5","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene, producing melanosome defects and absence of platelet dense bodies. Individuals typically show oculocutaneous albinism (often mild) with visual impairment and a platelet‑type bleeding diathesis.","xref":["DOID:0060543","GARD:0018334","MEDGEN:854711","OMIM:614074","UMLS:C3888004"],"synonym":["HPS5","HPS5 Hermansky-Pudlak syndrome","HPS5-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 5","Hermansky-Pudlak syndrome caused by mutation in HPS5"],"exact_synonym":["HPS5","HPS5 Hermansky-Pudlak syndrome","HPS5-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 5","Hermansky-Pudlak syndrome caused by mutation in HPS5"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 5"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the HPS5 gene"],"synonym":["HPS5 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013558","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 6","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene that affects lysosome‑related organelle formation, including melanosomes and platelet dense granules. The presentation includes oculocutaneous albinism with nystagmus and reduced visual acuity and a platelet‑type bleeding diathesis, typically mild. Systemic complications reported in other HPS types are generally absent in HPS6.","xref":["DOID:0060544","GARD:0018335","MEDGEN:854714","NCIT:C150369","OMIM:614075","UMLS:C3888007"],"synonym":["HPS6","HPS6 Hermansky-Pudlak syndrome","HPS6-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 6","Hermansky-Pudlak syndrome caused by mutation in HPS6"],"exact_synonym":["HPS6","HPS6 Hermansky-Pudlak syndrome","HPS6-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 6","Hermansky-Pudlak syndrome caused by mutation in HPS6"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","ncit_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 6"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the HPS6 gene that"],"synonym":["HPS6 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013559","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 7","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene, leading to defective melanosomes and lack of platelet dense granules. Core features comprise oculocutaneous/ocular albinism with visual impairment and a platelet‑type bleeding diathesis. Granulomatous colitis has been reported in some patients.","xref":["DOID:0060545","GARD:0018336","MEDGEN:481386","OMIM:614076","Orphanet:231531","UMLS:C3279756"],"synonym":["DTNBP1 Hermansky-Pudlak syndrome","DTNBP1-related Hermansky-Pudlak syndrome","HPS7","Hermansky-Pudlak syndrome 7","Hermansky-Pudlak syndrome caused by mutation in DTNBP1"],"exact_synonym":["DTNBP1 Hermansky-Pudlak syndrome","DTNBP1-related Hermansky-Pudlak syndrome","HPS7","Hermansky-Pudlak syndrome 7","Hermansky-Pudlak syndrome caused by mutation in DTNBP1"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","ordo_subtype_of_a_disorder","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 7"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the DTNBP1 gene"],"synonym":["DTNBP1 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013560","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 8","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene that impairs melanosomes and platelet dense‑granule formation. Individuals show generalized hypopigmentation with visual impairment (nystagmus, foveal hypoplasia, optic pathway misrouting) and a platelet‑type bleeding diathesis. The severity of bleeding is variable across reported cases.","xref":["DOID:0060546","GARD:0018337","MEDGEN:854728","OMIM:614077","Orphanet:231537","UMLS:C3888026"],"synonym":["BLOC1S3 Hermansky-Pudlak syndrome","BLOC1S3-related Hermansky-Pudlak syndrome","HPS8","Hermansky-Pudlak syndrome 8","Hermansky-Pudlak syndrome caused by mutation in BLOC1S3"],"exact_synonym":["BLOC1S3 Hermansky-Pudlak syndrome","BLOC1S3-related Hermansky-Pudlak syndrome","HPS8","Hermansky-Pudlak syndrome 8","Hermansky-Pudlak syndrome caused by mutation in BLOC1S3"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 8"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the BLOC1S3 gene"],"synonym":["BLOC1S3 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013606","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 9","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene, resulting in defective melanosomes and absence of platelet dense granules. The phenotype includes oculocutaneous/ocular albinism with nystagmus and reduced visual acuity and a bleeding tendency. Distinguishing features can include leukopenia with recurrent infections and thrombocytopenia in some patients.","xref":["DOID:0060547","GARD:0018338","MEDGEN:481656","OMIM:614171","Orphanet:280663","UMLS:C3280026"],"synonym":["BLOC1S6 Hermansky-Pudlak syndrome","BLOC1S6-related Hermansky-Pudlak syndrome","HPS9","Hermansky-Pudlak syndrome 9","Hermansky-Pudlak syndrome caused by mutation in BLOC1S6"],"exact_synonym":["BLOC1S6 Hermansky-Pudlak syndrome","BLOC1S6-related Hermansky-Pudlak syndrome","HPS9","Hermansky-Pudlak syndrome 9","Hermansky-Pudlak syndrome caused by mutation in BLOC1S6"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 9"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the BLOC1S6 gene"],"synonym":["BLOC1S6 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0011997","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 2","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a variation in the AP3B1 gene that impairs the formation of lysosome‑related organelles, including melanosomes and platelet dense granules. It presents with oculocutaneous albinism and a platelet‑type bleeding diathesis from dense‑granule deficiency. A distinguishing feature is immunodeficiency with neutropenia and recurrent infections; pulmonary complications can occur.","xref":["DOID:0060540","GARD:0015026","MEDGEN:374912","MESH:C537709","NANDO:2200733","NCIT:C150368","OMIM:608233","Orphanet:183678","Orphanet:664500","UMLS:C1842362"],"synonym":["AP3B1 Hermansky-Pudlak syndrome","AP3B1-related Hermansky-Pudlak syndrome","HPS-2","HPS2","Hermansky Pudlak syndrome 2","Hermansky-Pudlak syndrome 2","Hermansky-Pudlak syndrome caused by mutation in AP3B1","Hermansky-Pudlak syndrome type 2","Platelet defects and oculocutaneous albinism"],"exact_synonym":["AP3B1 Hermansky-Pudlak syndrome","AP3B1-related Hermansky-Pudlak syndrome","HPS-2","HPS2","Hermansky Pudlak syndrome 2","Hermansky-Pudlak syndrome 2","Hermansky-Pudlak syndrome caused by mutation in AP3B1","Hermansky-Pudlak syndrome type 2"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["Platelet defects and oculocutaneous albinism"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","ncit_rare","nord_rare","ordo_subtype_of_a_disorder","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 2"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a variation in the AP3B1 gene"],"synonym":["AP3B1 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013555","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 3","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. Affected individuals have mild oculocutaneous/ocular hypopigmentation with nystagmus and reduced visual acuity, and a generally mild bleeding diathesis. Compared with other forms, systemic complications (e.g., pulmonary fibrosis or colitis) are uncommon and the overall phenotype is milder.","xref":["DOID:0060541","GARD:0018333","MEDGEN:854708","OMIM:614072","UMLS:C3888001"],"synonym":["HPS3","HPS3 Hermansky-Pudlak syndrome","HPS3-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 3","Hermansky-Pudlak syndrome caused by mutation in HPS3"],"exact_synonym":["HPS3","HPS3 Hermansky-Pudlak syndrome","HPS3-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 3","Hermansky-Pudlak syndrome caused by mutation in HPS3"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 3"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the HPS3 gene"],"synonym":["HPS3 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0013556","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 4","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene that disrupts biogenesis of lysosome‑related organelles, resulting in melanosome defects and absence of platelet dense bodies. The core phenotype comprises oculocutaneous albinism with reduced visual acuity and nystagmus, and a platelet‑type bleeding tendency. Pulmonary fibrosis and/or granulomatous colitis may occur in this subtype.","xref":["DOID:0060542","GARD:0018332","MEDGEN:483344","OMIM:614073","UMLS:C3484357"],"synonym":["HPS4","HPS4 Hermansky-Pudlak syndrome","HPS4-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 4","Hermansky-Pudlak syndrome caused by mutation in HPS4"],"exact_synonym":["HPS4","HPS4 Hermansky-Pudlak syndrome","HPS4-related Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome 4","Hermansky-Pudlak syndrome caused by mutation in HPS4"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 4"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the HPS4 gene that"],"synonym":["HPS4 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0014885","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 10","description":"Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene disrupts AP‑3–dependent trafficking to lysosome‑related organelles, including melanosomes and platelet dense granules. Alongside oculocutaneous albinism and a platelet‑type bleeding diathesis, affected individuals develop early‑onset immunodeficiency and severe neurologic impairment (e.g., profound developmental delay and refractory seizures). Additional findings can include interstitial lung disease and hepatosplenomegaly.","xref":["GARD:0016180","MEDGEN:934713","OMIM:617050","Orphanet:664511","UMLS:C4310746"],"synonym":["AP3D1 Hermansky-Pudlak syndrome","AP3D1-related Hermansky-Pudlak syndrome","HPS10","Hermansky-Pudlak syndrome 10","Hermansky-Pudlak syndrome type 10"],"exact_synonym":["AP3D1 Hermansky-Pudlak syndrome","AP3D1-related Hermansky-Pudlak syndrome","HPS10","Hermansky-Pudlak syndrome 10","Hermansky-Pudlak syndrome type 10"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","ordo_subtype_of_a_disorder","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 10"],"description":["Any <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> in which the cause of the disease is a mutation in the AP3D1 gene"],"synonym":["AP3D1 <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0030903","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome 11","description":"A Hermansky-Pudlak syndrome caused by biallelic variants in the BLOC1S5 gene, resulting in melanosome defects and absence of platelet dense granules, and characterized by mild oculocutaneous albinism with reduced visual acuity and a moderate platelet-type bleeding diathesis with impaired platelet aggregation and ATP release. Reported cases to date suggest a relatively mild systemic course compared with other subtypes.","xref":["GARD:0018339","MEDGEN:1727728","OMIM:619172","UMLS:C5436936"],"synonym":["BLOC1S5-related Hermansky-Pudlak syndrome","HPS11"],"exact_synonym":["BLOC1S5-related Hermansky-Pudlak syndrome","HPS11"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":95.878586,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> 11"],"description":["A <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> caused by biallelic variants in the BLOC1S5 gene, resulting in"],"synonym":["BLOC1S5-related <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>"]}},{"id":"MONDO:0016501","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome with pulmonary fibrosis","description":"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.","xref":["GARD:0017168","MEDGEN:1843223","Orphanet:231500","UMLS:C5679834","icd11.foundation:1086187623"],"synonym":["HPS with pulmonary fibrosis"],"exact_synonym":["HPS with pulmonary fibrosis"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_subtype_of_a_disorder","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":81.468895,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> with pulmonary fibrosis"],"description":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> with pulmonary fibrosis as a complication includes two types (HPS-1 and"]}},{"id":"MONDO:0016502","category":"biolink:Disease","name":"Hermansky-Pudlak syndrome without pulmonary fibrosis","description":"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.","xref":["GARD:0017169","MEDGEN:1842321","Orphanet:231512","UMLS:C5679833","icd11.foundation:1363499932"],"synonym":["HPS without pulmonary fibrosis"],"exact_synonym":["HPS without pulmonary fibrosis"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_subtype_of_a_disorder","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":81.468895,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> without pulmonary fibrosis"],"description":["<em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em> without pulmonary fibrosis as a complication includes three relatively"]}},{"id":"MONDO:0008495","category":"biolink:Disease","name":"platelet storage pool deficiency","description":"Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.","xref":["DOID:2223","EFO:1001112","GARD:0005034","MEDGEN:19351","MESH:D010981","OMIM:185050","Orphanet:734","SCTID:234474009","UMLS:C0032197"],"synonym":["alpha dense granule deficiency","combined alpha-delta platelet storage pool deficiency","platelet storage pool diseases"],"exact_synonym":["alpha dense granule deficiency","combined alpha-delta platelet storage pool deficiency"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["platelet storage pool diseases"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["doid_rare","gard_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":5.8378415,"matched_field":null,"match_type":null,"highlighting":{"description":[" such as <em>Hermansky</em>-<em>Pudlak</em> <em>syndrome</em>, Chediak-Higashi <em>syndrome</em>, thrombocytopenia-absent radius (TAR"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":15}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}