diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
index 5d62d538b4..b56254a345 100644
--- a/src/ontology/mondo-edit.obo
+++ b/src/ontology/mondo-edit.obo
@@ -347,7 +347,7 @@ xref: DC:0000159 {source="MONDO:equivalentTo"}
 xref: DOID:0111297 {source="MONDO:equivalentTo"}
 xref: OMIMPS:121210 {source="MONDO:equivalentTo", source="DC:0000159"}
 is_a: MONDO:0003847 {source="MONDO:cjm"} ! Mendelian disease
-relationship: disease_has_feature HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
+relationship: disease_has_feature HP:0002373 ! Febrile seizures
 
 [Term]
 id: MONDO:0000033
@@ -2643,7 +2643,6 @@ def: "A disease involving the lower respiratory tract." [MONDO:DesignPattern]
 synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of lower respiratory tract" EXACT []
 synonym: "disorder of lower respiratory tract" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of lower respiratory tract" RELATED [MONDO:patterns/location_top]
 synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location]
 synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 xref: DOID:0050161 {source="MONDO:equivalentTo"}
@@ -3395,7 +3394,7 @@ xref: UMLS:C0275859 {source="MONDO:equivalentTo"}
 is_a: MONDO:0005714 {source="DOID:0050488", source="MONDOLEX:0000333", source="linkedlifedata"} ! congenital syphilis
 relationship: disease_has_feature HP:0000238 ! Hydrocephalus
 relationship: disease_has_feature HP:0001249 ! Intellectual disability
-relationship: disease_has_feature HP:0001250 ! Seizure
+relationship: disease_has_feature HP:0001250 ! Seizures
 relationship: disease_has_feature HP:0001287 ! Meningitis
 relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
 relationship: disease_has_feature HP:0001508 ! Failure to thrive
@@ -4508,7 +4507,7 @@ name: early onset absence epilepsy
 def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." [DOID:0050708, http://www.ilae-epilepsy.org]
 xref: DOID:0050708 {source="MONDO:equivalentTo"}
 is_a: MONDO:0000414 {source="DOID:0050708"} ! childhood electroclinical syndrome
-relationship: disease_has_feature HP:0011147 ! Typical absence seizure
+relationship: disease_has_feature HP:0011147 ! Typical absence seizures
 
 [Term]
 id: MONDO:0000418
@@ -5105,7 +5104,6 @@ def: "A disease involving the ocular adnexa." [MONDO:patterns/location_top]
 synonym: "disease of ocular adnexa" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of ocular adnexa" EXACT []
 synonym: "disorder of ocular adnexa" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of ocular adnexa" RELATED [MONDO:patterns/location_top]
 synonym: "ocular adnexa disease" EXACT [MONDO:patterns/location]
 synonym: "ocular adnexa disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 xref: DOID:0050815 {source="MONDO:equivalentTo"}
@@ -5245,7 +5243,6 @@ def: "A disease involving the sinoatrial node." [MONDO:DesignPattern]
 synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of sinoatrial node" EXACT []
 synonym: "disorder of sinoatrial node" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of sinoatrial node" RELATED [MONDO:patterns/location_top]
 synonym: "SA node" RELATED [DOID:0050824]
 synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location]
 synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -5262,7 +5259,6 @@ def: "A disease involving the endocardium." [MONDO:DesignPattern]
 synonym: "disease of endocardium" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of endocardium" EXACT []
 synonym: "disorder of endocardium" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of endocardium" RELATED [MONDO:patterns/location_top]
 synonym: "endocardial disease" EXACT []
 synonym: "endocardiopathy" RELATED []
 synonym: "endocardium disease" EXACT [MONDO:patterns/location]
@@ -5281,7 +5277,6 @@ def: "A disease involving the tricuspid valve." [MONDO:DesignPattern]
 synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM_2006:397.0, MONDO:patterns/location_top]
 synonym: "disease or disorder of tricuspid valve" EXACT []
 synonym: "disorder of tricuspid valve" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of tricuspid valve" RELATED [MONDO:patterns/location_top]
 synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826]
 synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826]
 synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826]
@@ -5323,7 +5318,6 @@ synonym: "artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:pattern
 synonym: "disease of artery" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of artery" EXACT []
 synonym: "disorder of artery" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of artery" RELATED [MONDO:patterns/location_top]
 xref: DOID:0050828 {source="MONDO:equivalentTo"}
 xref: ICD9:447.8 {source="linkedlifedata"}
 xref: ICD9:447.9 {source="linkedlifedata"}
@@ -5341,7 +5335,6 @@ def: "A disease involving the pericardium." [MONDO:DesignPattern]
 synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of pericardium" EXACT []
 synonym: "disorder of pericardium" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of pericardium" RELATED [MONDO:patterns/location_top]
 synonym: "pericardium disease" EXACT [MONDO:patterns/location]
 synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 xref: DOID:0050829 {source="MONDO:equivalentTo"}
@@ -5366,8 +5359,7 @@ comment: Editor note: TODO
 synonym: "childhood torsion disease" RELATED [MESH:D004422]
 synonym: "dystonia 12" RELATED [DOID:0050835]
 synonym: "dystonia deformans musculorum" RELATED [MESH:D004422]
-synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370, DOID:0050835]
-synonym: "dystonia deformans progressiva" RELATED [MESH:D004422]
+synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370, DOID:0050835, MESH:D004422]
 synonym: "dystonia musculorum deformans" RELATED [DOID:0050835]
 synonym: "dystonia, Idiopathic torsion" RELATED [MESH:D004422]
 synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422]
@@ -5595,7 +5587,7 @@ xref: SCTID:197661001 {source="MONDO:equivalentTo"}
 xref: UMLS:C0178664 {source="NCIT:C120888", source="MONDO:equivalentTo"}
 is_a: MONDO:0019722 {source="MONDO:cjm", source="linkedlifedata"} ! glomerular disease
 relationship: disease_causes_feature MONDO:0001106 ! kidney failure
-relationship: disease_has_feature HP:0000096 ! Glomerular sclerosis
+relationship: disease_has_feature HP:0000096 ! Glomerulosclerosis
 relationship: disease_has_location UBERON:0000074 ! renal glomerulus
 
 [Term]
@@ -5852,7 +5844,6 @@ id: MONDO:0000508
 name: syndromic intellectual disability
 def: "A intellectual disability that is part of a larger syndrome." [MONDO:patterns/syndromic]
 synonym: "syndrome associated with intellectual disability" EXACT [MONDO:patterns/syndromic]
-synonym: "syndrome associated with intellectual disability" RELATED [MONDO:patterns/syndromic]
 synonym: "syndromic intellectual disability" EXACT [MONDO:patterns/syndromic]
 xref: DOID:0050888 {source="MONDO:equivalentTo"}
 xref: OMIM:300486 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0050888"}
@@ -5867,8 +5858,7 @@ intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation
 id: MONDO:0000509
 name: non-syndromic intellectual disability
 def: "An intellectual disability that is not part of a larger syndrome." [MONDO:patterns/isolated]
-synonym: "isolated intellectual disability" EXACT []
-synonym: "isolated intellectual disability" RELATED [MONDO:DesignPattern]
+synonym: "isolated intellectual disability" EXACT [MONDO:DesignPattern]
 synonym: "nonsyndromic intellectual disability" EXACT [MONDO:DesignPattern, MONDO:patterns/isolated]
 xref: DOID:0050889 {source="MONDO:equivalentTo"}
 xref: OMIM:613192 {source="MONDO:relatedTo", source="DOID:0050889"}
@@ -6208,7 +6198,6 @@ synonym: "small intestinal NET G1" EXACT [NCIT:C4638]
 synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638]
 synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925]
 synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638]
-synonym: "small intestine carcinoid tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm_grade1]
 synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
 synonym: "small intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
 synonym: "small intestine neuroendocrine neoplasm G1" EXACT []
@@ -6317,14 +6306,11 @@ id: MONDO:0000550
 name: extra-adrenal sympathetic paraganglioma
 def: "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." [NCIT:C48576]
 comment: Editor note: DO classifies as cancer but we treat as neutral
-synonym: "Extra-adrenal chromaffin neoplasm" EXACT [NCIT:C48576]
-synonym: "Extra-adrenal chromaffin neoplasm" RELATED [EFO:0000489]
-synonym: "Extra-adrenal Chromaffinoma" EXACT [NCIT:C48576]
-synonym: "Extra-adrenal Chromaffinoma" RELATED [EFO:0000489]
-synonym: "Extra-adrenal pheochromocytoma" EXACT [NCIT:C48576]
-synonym: "Extra-adrenal pheochromocytoma" RELATED [EFO:0000489]
-synonym: "Extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576]
-synonym: "Extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576]
+synonym: "extra-adrenal chromaffin neoplasm" EXACT [EFO:0000489, NCIT:C48576]
+synonym: "extra-adrenal Chromaffinoma" EXACT [EFO:0000489, NCIT:C48576]
+synonym: "extra-adrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576]
+synonym: "extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576]
+synonym: "extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576]
 synonym: "extraadrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576]
 xref: DOID:0050936 {source="MONDO:equivalentTo"}
 xref: EFO:0000489 {source="MONDO:equivalentTo"}
@@ -6871,10 +6857,9 @@ def: "An immune system disease that has basis in dysregulation of the hypersensi
 synonym: "allergic reaction" EXACT [NCIT:C3114]
 synonym: "hypersensitive" EXACT [NCIT:C3114]
 synonym: "hypersensitivity" EXACT [NCIT:C3114]
-synonym: "hypersensitivity" RELATED [NCIT:C3114]
 synonym: "hypersensitivity reaction" EXACT [NCIT:C3114]
-synonym: "sensitive" EXACT [NCIT:C3114]
-synonym: "sensitivity" EXACT [NCIT:C3114]
+synonym: "sensitive" BROAD [NCIT:C3114]
+synonym: "sensitivity" BROAD [NCIT:C3114]
 xref: DOID:0060056 {source="MONDO:equivalentTo"}
 xref: EFO:1002003 {source="MONDO:equivalentTo"}
 xref: NCIT:C3114 {source="MONDO:equivalentTo"}
@@ -7577,7 +7562,6 @@ def: "A non-neoplastic or neoplastic disorder that affects the thorax and/or the
 synonym: "disease of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of thoracic segment of trunk" EXACT []
 synonym: "disorder of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of thoracic segment of trunk" RELATED [MONDO:patterns/location_top]
 synonym: "disorder of thorax" EXACT []
 synonym: "thoracic disease" EXACT [NCIT:C35742]
 synonym: "thoracic disorder" EXACT [NCIT:C35742]
@@ -7998,7 +7982,6 @@ synonym: "organic acid metabolism disorder" BROAD [DOID:0060159]
 synonym: "organic acidemia" RELATED [DOID:0060159, GARD:0009433]
 synonym: "organic aciduria" RELATED [DOID:0060159, MONDO:0017358]
 synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
-synonym: "rare inborn error of organic acid metabolic process" RELATED [MONDO:patterns/inborn_metabolic]
 xref: DOID:0060159 {source="MONDO:equivalentTo"}
 xref: GARD:0009433 {source="MONDO:equivalentTo"}
 xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"}
@@ -9628,7 +9611,6 @@ synonym: "disease of spine" EXACT []
 synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of vertebral column" EXACT []
 synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of vertebral column" RELATED [MONDO:patterns/location_top]
 synonym: "spinal disease" RELATED [DOID:0060564]
 synonym: "vertebral column disease" EXACT [MONDO:patterns/location]
 synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -10379,7 +10361,6 @@ name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
 def: "Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia." [NCIT:P378]
 synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [DOID:0080165, NCIT:C84275]
 synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" EXACT [NCIT:C84275]
-synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" RELATED [NCIT:C84275]
 xref: DOID:0080165 {source="MONDO:equivalentTo"}
 xref: ICDO:9965/3 {source="NCIT:C84275"}
 xref: NCIT:C84275 {source="DOID:0080165", source="MONDO:equivalentTo"}
@@ -10394,7 +10375,6 @@ def: "Myeloid and rarely lymphoid neoplasms characterized by the rearrangement o
 synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [DOID:0080166, NCIT:C84276]
 synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
 synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
-synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" RELATED [NCIT:C84276]
 xref: DOID:0080166 {source="MONDO:equivalentTo"}
 xref: ICDO:9966/3 {source="NCIT:C84276"}
 xref: NCIT:C84276 {source="DOID:0080166", source="MONDO:equivalentTo"}
@@ -10636,8 +10616,7 @@ synonym: "DYT-SGCE" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
 synonym: "DYT11" RELATED ABBREVIATION [MESH:C536096]
 synonym: "Hereditary essential myoclonus" RELATED [MESH:C536096]
 synonym: "hereditary essential myoclonus" EXACT [Orphanet:36899]
-synonym: "myoclonic dystonia" EXACT [DOID:0090033]
-synonym: "myoclonic dystonia" RELATED [MESH:C536096]
+synonym: "myoclonic dystonia" EXACT [DOID:0090033, MESH:C536096]
 synonym: "myoclonus, hereditary essential" RELATED [MESH:C536096]
 synonym: "myoclonus-Dystonia" RELATED [MESH:C536096]
 synonym: "myoclonus-dystonia" RELATED [GARD:0007139]
@@ -11160,7 +11139,6 @@ def: "A non-neoplastic or neoplastic disorder that affects the endometrium. Repr
 synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of endometrium" EXACT []
 synonym: "disorder of endometrium" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of endometrium" RELATED [MONDO:patterns/location_top]
 synonym: "endometrial disorder" EXACT []
 synonym: "endometrium disease" EXACT [MONDO:patterns/location]
 synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -11358,7 +11336,6 @@ synonym: "corneal disorder" EXACT [NCIT:C26731]
 synonym: "disease of cornea" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of cornea" EXACT []
 synonym: "disorder of cornea" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of cornea" RELATED [MONDO:patterns/location_top]
 xref: DOID:10124 {source="MONDO:equivalentTo"}
 xref: ICD10:H18.9 {source="DOID:10124"}
 xref: ICD9:371.30 {source="MONDO:relatedTo", source="i2s"}
@@ -13657,7 +13634,7 @@ xref: SCTID:190642003 {source="DOID:10573"}
 xref: SCTID:4598005 {source="MONDO:equivalentTo", source="DOID:10573"}
 xref: UMLS:C0029442 {source="MONDO:notFoundInDiseaseSubset", source="DOID:10573", source="NCIT:C26838"}
 is_a: MONDO:0000833 {source="DOID:10573"} ! bone remodeling disease
-relationship: disease_has_feature HP:0100512 ! Low levels of vitamin D
+relationship: disease_has_feature HP:0100512 ! Vitamin D deficiency
 
 [Term]
 id: MONDO:0001069
@@ -14949,7 +14926,6 @@ def: "A disease involving the saliva-secreting gland." [MONDO:DesignPattern]
 synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of saliva-secreting gland" EXACT []
 synonym: "disorder of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of saliva-secreting gland" RELATED [MONDO:patterns/location_top]
 synonym: "non-neoplastic salivary gland disease" EXACT [DOID:10854, NCIT:C27662]
 synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location]
 synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -15434,7 +15410,6 @@ def: "A disease involving the tongue." [MONDO:DesignPattern]
 synonym: "disease of tongue" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of tongue" EXACT []
 synonym: "disorder of tongue" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of tongue" RELATED [MONDO:patterns/location_top]
 synonym: "tongue disease" EXACT [MONDO:patterns/location]
 synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 xref: DOID:10944 {source="MONDO:equivalentTo"}
@@ -15644,7 +15619,6 @@ synonym: "conjunctival vasculature disease or disorder" EXACT [MONDO:design_patt
 synonym: "disease of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of conjunctival vasculature" EXACT []
 synonym: "disorder of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of conjunctival vasculature" RELATED [MONDO:patterns/location_top]
 synonym: "vascular abnormalities of conjunctiva" EXACT [DOID:10989, ICD9CM_2006:372.74]
 xref: DOID:10989 {source="MONDO:equivalentTo"}
 xref: ICD10:H11.41 {source="DOID:10989"}
@@ -15684,7 +15658,6 @@ comment: Includes cataracts, lens subluxation and aphakia
 synonym: "disease of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of lens of camera-type eye" EXACT []
 synonym: "disorder of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of lens of camera-type eye" RELATED [MONDO:patterns/location_top]
 synonym: "lens disorder" EXACT [NCIT:C26812]
 synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location]
 synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -15953,8 +15926,7 @@ id: MONDO:0001192
 name: esophageal melanoma
 def: "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" [NCIT:C5707]
 synonym: "esophageal melanoma" EXACT [NCIT:C5707]
-synonym: "esophagus melanoma" EXACT []
-synonym: "esophagus melanoma" RELATED [DOID:1108]
+synonym: "esophagus melanoma" EXACT [DOID:1108]
 synonym: "esophagus melanoma (disease)" EXACT [MONDO:patterns/location]
 synonym: "melanoma (disease) of esophagus" EXACT []
 synonym: "melanoma of esophagus" EXACT [DOID:1108, NCIT:C5707]
@@ -16504,7 +16476,6 @@ synonym: "disease of parathyroid gland" EXACT [MONDO:patterns/location_top]
 synonym: "disease of parathyroid glands" EXACT [DOID:11201]
 synonym: "disease or disorder of parathyroid gland" EXACT []
 synonym: "disorder of parathyroid gland" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of parathyroid gland" RELATED [MONDO:patterns/location_top]
 synonym: "parathyroid disease" EXACT [MONDO:0005553]
 synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844]
 synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -17053,7 +17024,7 @@ xref: SCTID:193827004 {source="DOID:11267"}
 xref: SCTID:85149007 {source="MONDO:equivalentTo", source="DOID:11267"}
 xref: UMLS:C0152455 {source="MONDO:equivalentTo", source="DOID:11267"}
 is_a: MONDO:0005328 {source="DOID:11267/inferred", source="https://en.wikipedia.org/wiki/Keratomalacia", source="linkedlifedata/inferred"} ! eye disease
-relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Low levels of vitamin A
+relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Vitamin A deficiency
 relationship: disease_has_basis_in_disruption_of GO:0010669 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! epithelial structure maintenance
 relationship: disease_has_feature HP:0007957 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! Corneal opacity
 relationship: disease_has_feature MONDO:0001515 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! corneal degeneration
@@ -17391,7 +17362,6 @@ def: "A disorder affecting the sclera. Examples include inflammatory processes (
 synonym: "disease of sclera" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of sclera" EXACT []
 synonym: "disorder of sclera" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of sclera" RELATED [MONDO:patterns/location_top]
 synonym: "sclera disease" EXACT [MONDO:patterns/location]
 synonym: "sclera disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 synonym: "sclera disorder" EXACT [NCIT:C79717]
@@ -17778,7 +17748,6 @@ synonym: "central autonomic nervous system diseases" RELATED [MESH:D001342]
 synonym: "disease of autonomic nervous system" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of autonomic nervous system" EXACT []
 synonym: "disorder of autonomic nervous system" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of autonomic nervous system" RELATED [MONDO:patterns/location_top]
 synonym: "disorder of peripheral autonomic nervous system" EXACT []
 synonym: "disorders of the autonomic nervous system" RELATED [MESH:D001342]
 synonym: "dysautonomia" EXACT []
@@ -19008,7 +18977,6 @@ synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patte
 synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of bronchus" EXACT []
 synonym: "disorder of bronchus" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of bronchus" RELATED [MONDO:patterns/location_top]
 xref: COHD:256717 {source="MONDO:equivalentTo"}
 xref: DOID:1176 {source="MONDO:equivalentTo"}
 xref: EFO:1002018 {source="MONDO:equivalentTo"}
@@ -19801,9 +19769,7 @@ is_a: MONDO:0004678 {source="DOID:11917", source="NCIT:C34535", source="linkedli
 id: MONDO:0001406
 name: peripheral nervous system neoplasm
 def: "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." [NCIT:C3321]
-synonym: "CNS-excluded nervous sys. cancer" EXACT [NCIT:C3321]
 synonym: "CNS-excluded nervous sys. cancer" NARROW [NCIT:C3321]
-synonym: "CNS-excluded nervous system cancer, NOS" NARROW [NCIT:C3321]
 synonym: "CNS-excluded nervous system cancer, NOS" RELATED EXCLUDE [NCIT:C3321]
 synonym: "neoplasm of peripheral nerve" EXACT [NCIT:C3321]
 synonym: "neoplasm of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
@@ -20309,8 +20275,7 @@ is_a: MONDO:0006713 {source="DOID:12087", source="linkedlifedata"} ! corneal neo
 id: MONDO:0001431
 name: toxic or nutritional optic neuropathy
 def: "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." [https://en.wikipedia.org/wiki/Toxic_and_nutritional_optic_neuropathy, MONDO:cjm]
-synonym: "nutritional optic neuropathy" EXACT [DOID:1209]
-synonym: "nutritional optic neuropathy" RELATED [DOID:1209]
+synonym: "nutritional optic neuropathy" BROAD [DOID:1209]
 xref: DOID:1209 {source="MONDO:equivalentTo"}
 xref: ICD10:H46.2 {source="MONDO:equivalentTo", source="DOID:1209"}
 xref: ICD9:377.33 {source="MONDO:equivalentTo", source="i2s", source="DOID:1209"}
@@ -20331,7 +20296,6 @@ def: "A non-neoplastic or neoplastic disorder that affects the vagina. Represent
 synonym: "disease of vagina" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of vagina" EXACT []
 synonym: "disorder of vagina" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of vagina" RELATED [MONDO:patterns/location_top]
 synonym: "vagina disease" EXACT [MONDO:patterns/location]
 synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 synonym: "vaginal disease" EXACT [NCIT:C26910]
@@ -20418,7 +20382,7 @@ xref: UMLS:C0034050 {source="MONDO:equivalentTo", source="DOID:12120", source="N
 is_a: MONDO:0005275 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="NCIT:C85037/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease
 relationship: disease_disrupts GO:0007585 ! respiratory gaseous exchange by respiratory system
 relationship: disease_has_location CL:0002063 {source="MONDO:cjm"} ! type II pneumocyte
-relationship: disease_has_major_feature HP:0006517 ! Intraalveolar phospholipid accumulation
+relationship: disease_has_major_feature HP:0006517 ! Alveolar proteinosis
 
 [Term]
 id: MONDO:0001438
@@ -21326,7 +21290,6 @@ id: MONDO:0001493
 name: chronic pulmonary heart disease
 def: "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." [NCIT:C34478]
 synonym: "Cor pulmonale" EXACT [NCIT:C34478]
-synonym: "Cor pulmonale" RELATED [NCIT:C34478]
 xref: COHD:315831 {source="MONDO:equivalentTo"}
 xref: DOID:12326 {source="MONDO:equivalentTo"}
 xref: ICD9:416.8 {source="DOID:12326", source="MONDO:relatedTo", source="i2s"}
@@ -22051,7 +22014,6 @@ synonym: "disease or disorder of vagus nerve" EXACT []
 synonym: "disorder of pneumogastric [10th] nerve" EXACT [DOID:12491, ICD9CM_2006:352.3]
 synonym: "disorder of vagal nerve" EXACT [DOID:12491, MTHICD9_2006:352.3]
 synonym: "disorder of vagus nerve" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of vagus nerve" RELATED [MONDO:patterns/location_top]
 synonym: "vagus nerve disease" EXACT [MONDO:patterns/location]
 synonym: "vagus nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 synonym: "Vagus nerve disorder" EXACT [DOID:12491, NCIT:C27591]
@@ -22561,7 +22523,6 @@ synonym: "disorder of acoustovestibular nerve" RELATED []
 synonym: "disorder of eighth nerve" RELATED []
 synonym: "disorder of the vestibulocochlear nerve" RELATED []
 synonym: "disorder of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of vestibulocochlear nerve" RELATED [MONDO:patterns/location_top]
 synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location]
 synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 synonym: "vestibulocochlear nerve disorder" EXACT [NCIT:C27207]
@@ -22759,7 +22720,6 @@ synonym: "disease of capillaries" EXACT [DOID:1271]
 synonym: "disease of capillary" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of capillary" EXACT []
 synonym: "disorder of capillary" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of capillary" RELATED [MONDO:patterns/location_top]
 xref: DOID:1271 {source="MONDO:equivalentTo"}
 xref: ICD10:I78 {source="DOID:1271"}
 xref: ICD10:I78.9 {source="DOID:1271"}
@@ -23079,7 +23039,6 @@ def: "A disease that involves the rectum." [MONDO:patterns/location]
 synonym: "disease of rectum" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of rectum" EXACT []
 synonym: "disorder of rectum" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of rectum" RELATED [MONDO:patterns/location_top]
 synonym: "rectal disorder" RELATED []
 synonym: "rectum disease" EXACT [MONDO:patterns/location]
 synonym: "rectum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
@@ -23176,7 +23135,6 @@ def: "A disease involving the submandibular gland." [MONDO:DesignPattern]
 synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top]
 synonym: "disease or disorder of submandibular gland" EXACT []
 synonym: "disorder of submandibular gland" EXACT [MONDO:patterns/location_top]
-synonym: "disorder of submandibular gland" RELATED [MONDO:patterns/location_top]
 synonym: "submandibular gland disease" EXACT [MONDO:patterns/location]
 synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
 xref: DOID:12897 {source="MONDO:equivalentTo"}
@@ -23252,8 +23210,7 @@ def: "A carcinoma that arises from the labia minora." [NCIT:C9364]
 synonym: "carcinoma of labia minora" EXACT [DOID:1293, NCIT:C9364]
 synonym: "carcinoma of labium minora" EXACT [MONDO:patterns/carcinoma]
 synonym: "carcinoma of the labia minora" EXACT [NCIT:C9364]
-synonym: "labia minora cancer" BROAD [NCIT:C9364]
-synonym: "labia minora cancer" EXACT [DOID:1293, NCIT:C9364]
+synonym: "labia minora cancer" BROAD [DOID:1293, NCIT:C9364]
 synonym: "labia minora carcinoma" EXACT [NCIT:C9364]
 synonym: "labium minora carcinoma" EXACT [MONDO:patterns/location]
 xref: DOID:1293 {source="MONDO:equivalentTo"}
@@ -40822,7 +40779,7 @@ xref: SCTID:47839005 {source="DOID:3240"}
 xref: UMLS:C0032290 {source="MONDO:relatedTo", source="NCIT:C34932", source="DOID:3240"}
 xref: UMLS:C1761609 {source="MONDO:equivalentTo"}
 is_a: MONDO:0043905 {source="NCIT:C34932", source="linkedlifedata"} ! pneumonitis
-relationship: disease_has_feature HP:0001250 ! Seizure
+relationship: disease_has_feature HP:0001250 ! Seizures
 relationship: disease_has_feature HP:0001297 ! Stroke
 relationship: disease_has_feature HP:0002090 ! Pneumonia
 relationship: disease_has_feature HP:0002098 ! Respiratory distress
@@ -73865,7 +73822,7 @@ is_a: MONDO:0015925 {source="DOID:841", source="MESH:D000542"} ! interstitial lu
 intersection_of: MONDO:0043905 ! pneumonitis
 intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
 relationship: disease_has_feature HP:0001824 ! Weight loss
-relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary Interstitial morphology
+relationship: disease_has_feature HP:0006530 ! Interstitial pulmonary abnormality
 
 [Term]
 id: MONDO:0004554
@@ -80930,7 +80887,7 @@ xref: SCTID:83883001 {source="MONDO:equivalentTo"}
 xref: UMLS:C0029751 {source="MONDO:notFoundInDiseaseSubset", source="DOID:9880"}
 xref: UMLS:C0039130 {source="MONDO:equivalentTo"}
 is_a: MONDO:0004497 {source="DOID:9880", source="linkedlifedata"} ! tertiary syphilis
-relationship: disease_has_feature HP:0002617 ! Vascular dilatation
+relationship: disease_has_feature HP:0002617 ! Dilatation
 
 [Term]
 id: MONDO:0004912
@@ -83968,7 +83925,7 @@ xref: SCTID:313307000 {source="DOID:1826"}
 xref: SCTID:84757009 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"}
 xref: UMLS:C0014544 {source="NCIT:C3020", source="MONDO:notFoundInDiseaseSubset", source="DOID:1826"}
 is_a: MONDO:0005560 {source="DOID:1826", source="MESH:D004827", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease
-relationship: disease_has_feature HP:0001250 ! Seizure
+relationship: disease_has_feature HP:0001250 ! Seizures
 relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
 
 [Term]
@@ -95063,7 +95020,7 @@ xref: SCTID:68295002 {source="MONDO:relatedTo", source="DOID:10609"}
 xref: UMLS:C0035579 {source="MONDO:equivalentTo", source="DOID:10609", source="NCIT:C26878"}
 xref: UMLS:C0221468 {source="MONDO:relatedTo", source="DOID:10609"}
 is_a: MONDO:0000833 {source="DOID:10609", source="PMID:20936937"} ! bone remodeling disease
-relationship: disease_has_feature HP:0100512 ! Low levels of vitamin D
+relationship: disease_has_feature HP:0100512 ! Vitamin D deficiency
 
 [Term]
 id: MONDO:0005521
@@ -100937,7 +100894,7 @@ xref: NCIT:C113168 {source="MONDO:otherHierarchy"}
 xref: SCTID:237662005 {source="MONDO:equivalentTo"}
 xref: UMLS:C0020514 {source="MONDO:equivalentTo"}
 is_a: MONDO:0006793 {source="MESH:D006966", source="linkedlifedata"} ! hyperpituitarism
-relationship: disease_has_major_feature HP:0000870 ! Increased circulating prolactin concentration
+relationship: disease_has_major_feature HP:0000870 ! Prolactin excess
 
 [Term]
 id: MONDO:0005805
@@ -143068,7 +143025,7 @@ is_a: MONDO:0005380 {source="DOID:14415/inferred", source="MESH:D007873/inferred
 is_a: MONDO:0018381 {source="DOID:14415", source="MONDO:Redundant", source="Orphanet:2380", source="linkedlifedata"} ! osteochondrosis
 is_a: MONDO:0019686 {source="Orphanet:2380"} ! type 2 collagen-related bone disorder
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1
-relationship: disease_has_feature HP:0010885 ! Avascular necrosis
+relationship: disease_has_feature HP:0010885 ! Aseptic necrosis
 property_value: confidence "3.666666666666667" xsd:double
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease xsd:anyURI {source="GARD:0006874"}
 
@@ -147487,7 +147444,7 @@ xref: UMLS:C1510479 {source="MONDO:notFoundInDiseaseSubset", source="DOID:10383"
 xref: UMLS:C1834304 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:162100"}
 is_a: MONDO:0006683 {source="DOID:10383", source="MONDOLEX:0008076", source="linkedlifedata"} ! brachial plexus neuropathy
 is_a: MONDO:0017362 {source="ORDO:2901/btnt"} ! neuralgic amyotrophy
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7323 {source="mim2gene_medgen"} ! SEPTIN9
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7323 {source="mim2gene_medgen"} ! SEPT9
 property_value: confidence "3.333333333333333" xsd:double
 
 [Term]
@@ -154718,7 +154675,7 @@ xref: SCTID:53406005 {source="MONDO:equivalentTo", source="DOID:13300"}
 xref: UMLS:C0036310 {source="Orphanet:3135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181440", source="DOID:13300", source="NCIT:C34999"}
 is_a: MONDO:0018381 {source="DOID:13300", source="EFO:0008576", source="MONDO:Redundant", source="NCIT:C34999/inferred", source="Orphanet:3135", source="Orphanet:3135/inferred"} ! osteochondrosis
 is_a: MONDO:0018385 {source="Orphanet:3135"} ! osteochondrosis of genetic origin
-relationship: disease_has_feature HP:0010885 ! Avascular necrosis
+relationship: disease_has_feature HP:0010885 ! Aseptic necrosis
 property_value: confidence "4.833333333333334" xsd:double
 
 [Term]
@@ -164136,7 +164093,7 @@ xref: SCTID:254065005 {source="MONDO:equivalentTo"}
 xref: UMLS:C0432215 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1159", source="OMIM:208230"}
 is_a: MONDO:0005516 {source="DOID:0090004"} ! osteochondrodysplasia
 is_a: MONDO:0016761 {source="Orphanet:1159"} ! spondyloepiphyseal dysplasia
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12771 {source="mim2gene_medgen"} ! CCN6
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12771 {source="mim2gene_medgen"} ! WISP3
 property_value: confidence "22.611111111111118" xsd:double
 
 [Term]
@@ -171617,7 +171574,7 @@ xref: UMLS:C0013481 {source="Orphanet:1880", source="ORDO:1880/e", source="NCBI:
 is_a: MONDO:0000471 {source="DOID:14289", source="indirect"} ! tricuspid valve disease
 is_a: MONDO:0005561 {source="EFO:0007244"} ! aortic disease
 is_a: MONDO:0020289 {source="Orphanet:1880"} ! congenital tricuspid malformation
-relationship: disease_has_feature HP:0010316 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Ebstein anomaly of the tricuspid valve
+relationship: disease_has_feature HP:0010316 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Ebstein's anomaly of the tricuspid valve
 relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384"} ! obsolete genetic cardiac malformation
 property_value: confidence "5.0" xsd:double
 
@@ -175205,9 +175162,9 @@ xref: UMLS:CN069618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 xref: UMLS:CN205860 {source="MONDO:equivalentTo"}
 is_a: MONDO:0002413 {source="MONDOLEX:0009287", source="Orphanet:79258", source="linkedlifedata"} ! glycogen storage disease I
 intersection_of: MONDO:0002412 ! glycogen storage disease
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 ! G6PC1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 ! G6PC
 relationship: disease_has_basis_in_disruption_of GO:0004346 ! glucose-6-phosphatase activity
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 {source="mim2gene_medgen"} ! G6PC1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 {source="mim2gene_medgen"} ! G6PC
 property_value: confidence "3.571428571428573" xsd:double
 
 [Term]
@@ -181715,7 +181672,7 @@ xref: UMLS:C2930990 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset
 is_a: MONDO:0000688 {source="DOID:9269", source="indirect", source="linkedlifedata"} ! inherited organic acidemia
 is_a: MONDO:0003847 {source="MESH:D008375/inferred", source="MONDO:Redundant", source="NCIT:C34806", source="Orphanet:511/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease
 is_a: MONDO:0019242 {source="Orphanet:511", source="linkedlifedata"} ! inborn disorder of branched-chain amino acid metabolism
-relationship: disease_has_feature HP:0001250 ! Seizure
+relationship: disease_has_feature HP:0001250 ! Seizures
 relationship: disease_has_feature HP:0001276 ! Hypertonia
 relationship: disease_has_feature HP:0010864 ! Intellectual disability, severe
 property_value: confidence "0.6200294550810015" xsd:double
@@ -182883,7 +182840,7 @@ xref: UMLS:C1855115 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:251000
 xref: UMLS:C1855116 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:251000"}
 is_a: MONDO:0017390 {source="Orphanet:27"} ! methylmalonic acidemia without homocystinuria
 is_a: MONDO:0019743 {source="Orphanet:27"} ! nephropathy secondary to a storage or other metabolic disease
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7526 {source="mim2gene_medgen"} ! MMUT
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7526 {source="mim2gene_medgen"} ! MUT
 property_value: confidence "11.249999999999986" xsd:double
 
 [Term]
@@ -186296,7 +186253,7 @@ is_a: MONDO:0018037 {source="Orphanet:634"} ! hyper-IgE syndrome
 is_a: MONDO:0019269 {source="MESH:D056770/inferred", source="MONDO:Redundant", source="NCIT:C84922", source="Orphanet:634/inferred"} ! ichthyosis (disease)
 is_a: MONDO:0020267 {source="MONDO:0020268-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic keratinization disorder associated with ocular features
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15464 {source="mim2gene_medgen"} ! SPINK5
-relationship: disease_has_feature HP:0000499 {source="Orphanet:634"} ! Abnormal eyelash morphology
+relationship: disease_has_feature HP:0000499 {source="Orphanet:634"} ! Abnormality of the eyelashes
 relationship: disease_has_feature HP:0000534 {source="Orphanet:634"} ! Abnormal eyebrow morphology
 relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:634"} ! obsolete eyebrow/eyelashes structural anomaly
 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:256500", source="Orphanet:634"} ! Autosomal recessive inheritance
@@ -189128,7 +189085,7 @@ xref: UMLS:C1394891 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis
 is_a: MONDO:0000424 {source="DOID:0050734", source="MESH:C563242/inferred", source="MONDO:Redundant"} ! inborn vitamin B12 deficiency (disease)
 is_a: MONDO:0019220 {source="Orphanet:332"} ! inborn disorder of cobalamin metabolism and transport
 is_a: MONDO:0020109 {source="Orphanet:332"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4268 {source="mim2gene_medgen"} ! CBLIF
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4268 {source="mim2gene_medgen"} ! GIF
 relationship: disease_has_feature HP:0001889 ! Megaloblastic anemia
 relationship: disease_has_feature HP:0100502 ! Vitamin B12 deficiency
 property_value: confidence "2.2500000000000004" xsd:double
@@ -204772,8 +204729,8 @@ xref: UMLS:C4478372 {source="MONDO:equivalentTo"}
 xref: UMLS:CN240511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0016575 {source="DC-OMIM:300991", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia
 intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28570 ! DNAAF6
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28570 {source="mim2gene_medgen"} ! DNAAF6
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28570 ! PIH1D3
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28570 {source="mim2gene_medgen"} ! PIH1D3
 
 [Term]
 id: MONDO:0010518
@@ -205829,8 +205786,8 @@ xref: UMLS:C3669395 {source="MONDO:equivalentTo"}
 is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punctata
 is_a: MONDO:0019602 {source="Orphanet:79345"} ! other inborn metabolic disease
 intersection_of: MONDO:0010556 ! X-linked chondrodysplasia punctata
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/719 ! ARSL
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/719 {source="mim2gene_medgen"} ! ARSL
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/719 ! ARSE
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/719 {source="mim2gene_medgen"} ! ARSE
 property_value: confidence "0.6823076923076923" xsd:double
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive xsd:anyURI {source="GARD:0001296"}
 
@@ -208277,7 +208234,7 @@ is_a: MONDO:0017762 {source="Orphanet:565", source="linkedlifedata"} ! disorder
 is_a: MONDO:0019058 {source="Orphanet:565", source="indirect"} ! neurometabolic disease
 is_a: MONDO:0019282 {source="Orphanet:565"} ! syndromic hair shaft abnormality
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/869 {source="mim2gene_medgen"} ! ATP7A
-relationship: disease_has_feature HP:0000499 {source="Orphanet:565"} ! Abnormal eyelash morphology
+relationship: disease_has_feature HP:0000499 {source="Orphanet:565"} ! Abnormality of the eyelashes
 relationship: disease_has_feature HP:0000534 {source="Orphanet:565"} ! Abnormal eyebrow morphology
 relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:565"} ! obsolete eyebrow/eyelashes structural anomaly
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1521/menkes-disease xsd:anyURI {source="GARD:0001521"}
@@ -212328,7 +212285,7 @@ xref: UMLS:C0014553 {source="MONDO:notFoundInDiseaseSubset", source="DOID:1825"}
 xref: UMLS:C1838604 {source="OMIM:600131", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
 is_a: MONDO:0000414 {source="DOID:1825"} ! childhood electroclinical syndrome
 is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
-relationship: disease_has_feature HP:0002121 ! Generalized non-motor (absence) seizure
+relationship: disease_has_feature HP:0002121 ! Absence seizures
 
 [Term]
 id: MONDO:0010827
@@ -218062,8 +218019,8 @@ xref: UMLS:C4274109 {source="MONDO:equivalentTo"}
 is_a: MONDO:0015626 {source="DOID:0110164/inferred", source="MESH:C537993", source="MONDO:Redundant", source="NCIT:C122659", source="OMIM:601472", source="Orphanet:99938/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0018993 {source="DOID:0110164", source="MONDO:Redundant", source="Orphanet:99938"} ! Charcot-Marie-Tooth disease type 2
 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4162 ! GARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4162 {source="mim2gene_medgen"} ! GARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4162 ! GARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4162 {source="mim2gene_medgen"} ! GARS
 property_value: confidence "16.499999999999968" xsd:double
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d xsd:anyURI {source="GARD:0001251"}
 
@@ -224431,7 +224388,7 @@ xref: SCTID:717183001 {source="MONDO:equivalentTo"}
 xref: UMLS:C1858805 {source="NCBI:mim2gene_medline", source="OMIM:604117", source="MONDO:equivalentTo", source="Orphanet:79395"}
 is_a: MONDO:0017262 {source="Orphanet:79395"} ! inherited non-syndromic ichthyosis
 is_a: MONDO:0017670 {source="Orphanet:79395"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6663 {source="mim2gene_medgen"} ! LORICRIN
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6663 {source="mim2gene_medgen"} ! LOR
 property_value: confidence "3.666666666666667" xsd:double
 
 [Term]
@@ -237768,8 +237725,8 @@ xref: UMLS:C1842237 {source="Orphanet:100045", source="NCBI:mim2gene_medline", s
 is_a: MONDO:0015626 {source="DOID:0110199/inferred", source="MESH:C564257", source="MONDO:Redundant", source="OMIM:608323", source="Orphanet:100045/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0019548 {source="MONDOLEX:0012012", source="Orphanet:100045"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12840 ! YARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12840 {source="mim2gene_medgen"} ! YARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12840 ! YARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12840 {source="mim2gene_medgen"} ! YARS
 property_value: confidence "22.333333333333343" xsd:double
 
 [Term]
@@ -243180,7 +243137,7 @@ is_a: MONDO:0015246 {source="Orphanet:66629"} ! syndromic anorectal malformation
 is_a: MONDO:0015335 {source="Orphanet:66629"} ! orofacial clefting syndrome
 is_a: MONDO:0020169 {source="Orphanet:66629"} ! rare disorder with ptosis
 is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23419 {source="mim2gene_medgen"} ! KIFBP
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23419 {source="mim2gene_medgen"} ! KIF1BP
 relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015184", source="MONDO:0015983"} ! rare
 
 [Term]
@@ -246707,7 +246664,7 @@ xref: UMLS:C1853230 {source="Orphanet:83461", source="OMIM:610256", source="NCBI
 is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lens disease
 is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3808 {source="mim2gene_medgen"} ! FOXE3
-relationship: disease_has_major_feature HP:0007707 ! Congenital aphakia
+relationship: disease_has_major_feature HP:0007707 ! Aphakia
 property_value: confidence "3.2857142857142856" xsd:double
 
 [Term]
@@ -257602,7 +257559,7 @@ xref: UMLS:C4509819 {source="MONDO:equivalentTo"}
 is_a: MONDO:0018236 {source="Orphanet:199332"} ! dysostosis with limb and face anomalies as a major feature
 is_a: MONDO:0018731 {source="Orphanet:199332", source="indirect"} ! lethal multiple congenital anomalies/dysmorphic syndrome
 is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:199332"} ! genetic lethal multiple congenital anomalies/dysmorphic syndrome
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21219 {source="mim2gene_medgen"} ! CILK1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21219 {source="mim2gene_medgen"} ! ICK
 property_value: confidence "24.71428571428571" xsd:double
 
 [Term]
@@ -262511,8 +262468,8 @@ xref: UMLS:C4304671 {source="MONDO:equivalentTo"}
 is_a: MONDO:0015626 {source="DOID:0110177/inferred", source="MESH:C567653", source="MONDO:Redundant", source="OMIM:613287", source="Orphanet:228174/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0018993 {source="DOID:0110177", source="MONDO:Redundant", source="Orphanet:228174"} ! Charcot-Marie-Tooth disease type 2
 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 {source="mim2gene_medgen"} ! AARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 {source="mim2gene_medgen"} ! AARS
 property_value: confidence "207.9999999999961" xsd:double
 
 [Term]
@@ -265107,8 +265064,8 @@ xref: UMLS:C3150897 {source="OMIM:613641", source="NCBI:mim2gene_medline", sourc
 is_a: MONDO:0015626 {source="DOID:0110204/inferred", source="MONDO:Redundant", source="OMIM:613641", source="Orphanet:254334/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0017058 {source="MONDOLEX:0013338", source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 ! KARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 {source="mim2gene_medgen"} ! KARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 ! KARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 {source="mim2gene_medgen"} ! KARS
 property_value: confidence "14.999999999999948" xsd:double
 
 [Term]
@@ -268346,8 +268303,8 @@ xref: Orphanet:90636 {source="MONDO:subClassOf", source="OMIM:613916"}
 xref: UMLS:C3151351 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613916"}
 is_a: MONDO:0019588 {source="DC-OMIM:613916", source="DOID:0110534", source="MONDO:Redundant", source="OMIM:613916"} ! autosomal recessive nonsyndromic deafness
 intersection_of: MONDO:0019588 ! autosomal recessive nonsyndromic deafness
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 ! KARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 {source="mim2gene_medgen"} ! KARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 ! KARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 {source="mim2gene_medgen"} ! KARS
 
 [Term]
 id: MONDO:0013490
@@ -269775,7 +269732,7 @@ xref: OMIM:614078 {source="MONDO:equivalentTo", source="Orphanet:280586", source
 xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"}
 xref: UMLS:C3279757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614078"}
 is_a: MONDO:0019700 {source="Orphanet:280586"} ! primary bone dysplasia with multiple joint dislocations
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26019 {source="mim2gene_medgen"} ! BPNT2
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26019 {source="mim2gene_medgen"} ! IMPAD1
 property_value: confidence "41.50000000000001" xsd:double
 
 [Term]
@@ -274468,8 +274425,8 @@ xref: UMLS:C3281066 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0016485 {source="DOID:0110842", source="MONDOLEX:0013788"} ! Usher syndrome type 3
 is_a: MONDO:0019501 {source="DOID:0110842/inferred", source="MONDO:Redundant", source="OMIM:614504", source="indirect"} ! Usher syndrome
 intersection_of: MONDO:0019501 ! Usher syndrome
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 {source="mim2gene_medgen"} ! HARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 {source="mim2gene_medgen"} ! HARS
 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:614504"} ! Autosomal recessive inheritance
 property_value: confidence "2.4444444444444438" xsd:double
 
@@ -275398,8 +275355,8 @@ xref: Orphanet:899 {source="MONDO:subClassOf", source="OMIM:614643", source="MON
 xref: UMLS:C3553330 {source="OMIM:614643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
 intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 ! CRPPA
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 {source="mim2gene_medgen"} ! CRPPA
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 ! ISPD
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 {source="mim2gene_medgen"} ! ISPD
 property_value: confidence "0.5294117647058822" xsd:double
 
 [Term]
@@ -276776,8 +276733,8 @@ xref: UMLS:C3553793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0004983 {source="DC-OMIM:614822", source="MONDO:Redundant", source="OMIM:614822"} ! azoospermia
 is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder
 intersection_of: MONDO:0004983 ! azoospermia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPTIN12
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 {source="mim2gene_medgen"} ! SEPTIN12
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPT12
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 {source="mim2gene_medgen"} ! SEPT12
 property_value: confidence "29.333333333333442" xsd:double
 
 [Term]
@@ -279461,8 +279418,8 @@ xref: Orphanet:244 {source="MONDO:subClassOf", source="OMIM:615067"}
 xref: UMLS:C3540844 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615067"}
 is_a: MONDO:0016575 {source="DC-OMIM:615067", source="DOID:0110625", source="MONDO:Redundant", source="MONDOLEX:0014030", source="OMIM:615067"} ! primary ciliary dyskinesia
 intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26560 ! ODAD1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26560 {source="mim2gene_medgen"} ! ODAD1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26560 ! CCDC114
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26560 {source="mim2gene_medgen"} ! CCDC114
 
 [Term]
 id: MONDO:0014031
@@ -281221,7 +281178,7 @@ xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source
 xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"}
 xref: UMLS:C3809008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615281"}
 is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2678 {source="mim2gene_medgen"} ! DARS1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2678 {source="mim2gene_medgen"} ! DARS
 property_value: confidence "3.0625" xsd:double
 
 [Term]
@@ -282808,8 +282765,8 @@ xref: Orphanet:244 {source="MONDO:subClassOf", source="OMIM:615451"}
 xref: UMLS:C3809548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615451"}
 is_a: MONDO:0016575 {source="DC-OMIM:615451", source="DOID:0110609", source="MONDO:Redundant", source="MONDOLEX:0014193", source="OMIM:615451"} ! primary ciliary dyskinesia
 intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25583 ! ODAD2
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25583 {source="mim2gene_medgen"} ! ODAD2
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25583 ! ARMC4
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25583 {source="mim2gene_medgen"} ! ARMC4
 
 [Term]
 id: MONDO:0014194
@@ -283081,7 +283038,7 @@ xref: Orphanet:440427 {source="MONDO:equivalentTo"}
 xref: UMLS:C3809651 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615486"}
 is_a: MONDO:0001437 {source="MONDO:cjm"} ! pulmonary alveolar proteinosis
 is_a: MONDO:0015052 {source="Orphanet:440427"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 {source="mim2gene_medgen"} ! MARS1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 {source="mim2gene_medgen"} ! MARS
 property_value: confidence "0.14285714285714302" xsd:double
 
 [Term]
@@ -283265,7 +283222,7 @@ xref: Orphanet:93271 {source="MONDO:subClassOf", source="OMIM:615503"}
 xref: UMLS:C3809691 {source="OMIM:615503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0018770 {source="DOID:0110094", source="OMIM:615503"} ! Jeune syndrome
 is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21862 {source="mim2gene_medgen"} ! DYNC2I1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21862 {source="mim2gene_medgen"} ! WDR60
 property_value: confidence "0.7173913043478257" xsd:double
 
 [Term]
@@ -284777,7 +284734,7 @@ xref: Orphanet:98869 {source="MONDO:subClassOf", source="OMIM:615631"}
 xref: UMLS:C3810185 {source="OMIM:615631", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:615631", source="indirect"} ! congenital dyserythropoietic anemia
 is_a: MONDO:0020337 {source="ORDO:98869/btnt"} ! congenital dyserythropoietic anemia type 1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26929 {source="mim2gene_medgen"} ! CDIN1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26929 {source="mim2gene_medgen"} ! C15orf41
 property_value: confidence "0.8364197530864197" xsd:double
 
 [Term]
@@ -284816,7 +284773,7 @@ xref: Orphanet:93271 {source="MONDO:subClassOf", source="OMIM:615633"}
 xref: UMLS:C3810200 {source="OMIM:615633", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0018770 {source="DOID:0110095", source="OMIM:615633"} ! Jeune syndrome
 is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28296 {source="mim2gene_medgen"} ! DYNC2I2
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28296 {source="mim2gene_medgen"} ! WDR34
 property_value: confidence "0.7173913043478257" xsd:double
 
 [Term]
@@ -285780,7 +285737,7 @@ xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"}
 xref: UMLS:C4014239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0015655 {source="Orphanet:404437"} ! cerebral malformation with epilepsy
 is_a: MONDO:0017119 {source="Orphanet:404437"} ! syndrome with microcephaly as major feature
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9751 {source="mim2gene_medgen"} ! QARS1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9751 {source="mim2gene_medgen"} ! QARS
 property_value: confidence "8.333333333333334" xsd:double
 
 [Term]
@@ -287243,7 +287200,7 @@ is_a: MONDO:0015490 {source="Orphanet:425120"} ! predominantly small-vessel vasc
 is_a: MONDO:0015710 {source="Orphanet:425120"} ! immune dysregulation disease with immunodeficiency
 is_a: MONDO:0017370 {source="Orphanet:425120"} ! autoinflammatory syndrome with skin involvement
 is_a: MONDO:0018782 {source="Orphanet:425120"} ! type 1 interferonopathy
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27962 {source="mim2gene_medgen"} ! STING1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27962 {source="mim2gene_medgen"} ! TMEM173
 relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare
 property_value: confidence "2.846153846153847" xsd:double
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy xsd:anyURI {source="GARD:0012357"}
@@ -288508,8 +288465,8 @@ xref: Orphanet:244 {source="MONDO:subClassOf", source="OMIM:616037"}
 xref: UMLS:C4015016 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0016575 {source="DC-OMIM:616037", source="DOID:0110624", source="MONDO:Redundant", source="MONDOLEX:0014465", source="OMIM:616037"} ! primary ciliary dyskinesia
 intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28303 ! ODAD3
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28303 {source="mim2gene_medgen"} ! ODAD3
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28303 ! CCDC151
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28303 {source="mim2gene_medgen"} ! CCDC151
 
 [Term]
 id: MONDO:0014466
@@ -288714,8 +288671,8 @@ is_a: MONDO:0016155 {source="Orphanet:352479"} ! qualitative or quantitative def
 is_a: MONDO:0017745 {source="Orphanet:352479"} ! disorder of O-mannosylglycan synthesis
 is_a: MONDO:0018286 {source="Orphanet:352479"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 ! CRPPA
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 {source="mim2gene_medgen"} ! CRPPA
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 ! ISPD
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 {source="mim2gene_medgen"} ! ISPD
 property_value: confidence "14.99999999999995" xsd:double
 
 [Term]
@@ -289388,8 +289345,8 @@ xref: UMLS:C4015323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0000508 {source="Orphanet:438114"} ! syndromic intellectual disability
 is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Redundant", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy
 intersection_of: MONDO:0019046 ! leukodystrophy
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 ! RARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 {source="mim2gene_medgen"} ! RARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 ! RARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 {source="mim2gene_medgen"} ! RARS
 relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
 property_value: confidence "13.769230769230768" xsd:double
 
@@ -290688,8 +290645,8 @@ xref: UMLS:C4084821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0015626 {source="DOID:0110173/inferred", source="MONDO:Redundant", source="OMIM:616280", source="Orphanet:397735/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0018993 {source="DOID:0110173", source="MONDO:Redundant", source="Orphanet:397735"} ! Charcot-Marie-Tooth disease type 2
 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 ! MARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 {source="mim2gene_medgen"} ! MARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 ! MARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 {source="mim2gene_medgen"} ! MARS
 property_value: confidence "15.666666666666679" xsd:double
 
 [Term]
@@ -291250,8 +291207,8 @@ xref: UMLS:C4225361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
 is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental and epileptic encephalopathy
 intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 {source="mim2gene_medgen"} ! AARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 {source="mim2gene_medgen"} ! AARS
 property_value: confidence "6.200000000000001" xsd:double
 
 [Term]
@@ -291372,8 +291329,8 @@ xref: OMIM:616351 {source="DOID:0070064", source="MONDO:equivalentTo"}
 xref: UMLS:C4225156 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
 is_a: MONDO:0015802 {source="DC-OMIM:616351", source="DOID:0070064", source="MONDO:Redundant", source="OMIM:616351"} ! autosomal dominant non-syndromic intellectual disability
 intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2205 ! CERT1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2205 {source="mim2gene_medgen"} ! CERT1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2205 ! COL4A3BP
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2205 {source="mim2gene_medgen"} ! COL4A3BP
 relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance
 
 [Term]
@@ -293650,8 +293607,8 @@ xref: UMLS:C4225265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0015626 {source="DOID:0110162/inferred", source="MONDO:Redundant", source="OMIM:616625", source="Orphanet:488333/inferred"} ! Charcot-Marie-Tooth disease
 is_a: MONDO:0018993 {source="DOID:0110162", source="MONDO:Redundant", source="Orphanet:488333"} ! Charcot-Marie-Tooth disease type 2
 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 {source="mim2gene_medgen"} ! HARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 {source="mim2gene_medgen"} ! HARS
 
 [Term]
 id: MONDO:0014712
@@ -294863,8 +294820,8 @@ xref: OMIM:616784 {source="DOID:0110995", source="MONDO:equivalentTo"}
 xref: UMLS:C4084843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0018772 {source="DC-OMIM:616784", source="DOID:0110995", source="MONDO:Redundant", source="OMIM:616784"} ! Joubert syndrome
 intersection_of: MONDO:0018772 ! Joubert syndrome
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29068 ! KATNIP
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29068 {source="mim2gene_medgen"} ! KATNIP
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29068 ! KIAA0556
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29068 {source="mim2gene_medgen"} ! KIAA0556
 
 [Term]
 id: MONDO:0014772
@@ -296905,8 +296862,8 @@ xref: OMIM:617030 {source="MONDO:equivalentTo"}
 xref: UMLS:C4310754 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant"} ! distal myopathy
 intersection_of: MONDO:0018949 ! distal myopathy
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20093 ! ADSS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20093 {source="mim2gene_medgen"} ! ADSS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20093 ! ADSSL1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20093 {source="mim2gene_medgen"} ! ADSSL1
 
 [Term]
 id: MONDO:0014878
@@ -297534,8 +297491,8 @@ xref: OMIM:617092 {source="MONDO:equivalentTo", source="DOID:0110620"}
 xref: UMLS:C4310721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0016575 {source="DC-OMIM:617092", source="DOID:0110620", source="MONDO:Redundant", source="MONDOLEX:0014910", source="OMIM:617092"} ! primary ciliary dyskinesia
 intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25280 ! ODAD4
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25280 {source="mim2gene_medgen"} ! ODAD4
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25280 ! TTC25
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25280 {source="mim2gene_medgen"} ! TTC25
 
 [Term]
 id: MONDO:0014911
@@ -297552,7 +297509,7 @@ xref: Orphanet:541423 {source="MONDO:equivalentTo"}
 xref: UMLS:C4310720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0003847 {source="EFO:0009155"} ! Mendelian disease
 is_a: MONDO:0015508 {source="Orphanet:541423"} ! genetic parenchymatous liver disease
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5330 {source="Orphanet:541423", source="mim2gene_medgen"} ! IARS1
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5330 {source="Orphanet:541423", source="mim2gene_medgen"} ! IARS
 relationship: has_modifier HP:0000007 {source="Orphanet:541423"} ! Autosomal recessive inheritance
 
 [Term]
@@ -307453,7 +307410,7 @@ xref: UMLS:C0009447 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO
 is_a: MONDO:0015132 {source="MONDO:Redundant", source="Orphanet:1572", source="indirect"} ! immunodeficiency predominantly affecting antibody production
 is_a: MONDO:0015356 {source="Orphanet:1572", source="linkedlifedata"} ! hereditary neoplastic syndrome
 is_a: MONDO:0016463 {source="MONDOLEX:0015517", source="NCIT:C26725"} ! syndromic agammaglobulinemia
-relationship: disease_has_feature HP:0004313 ! Decreased circulating antibody level
+relationship: disease_has_feature HP:0004313 ! Decreased antibody level in blood
 
 [Term]
 id: MONDO:0015518
@@ -311340,7 +311297,7 @@ is_a: MONDO:0019701 {source="DOID:2580", source="MESH:D018902", source="NCIT:C85
 is_a: MONDO:0020232 {source="Orphanet:177"} ! musculoskeletal disease with cataract
 is_a: MONDO:0020280 {source="Orphanet:177"} ! metabolic disease with cataract
 relationship: disease_has_feature HP:0000518 ! Cataract
-relationship: disease_has_feature HP:0001250 ! Seizure
+relationship: disease_has_feature HP:0001250 ! Seizures
 relationship: disease_has_feature HP:0008905 ! Rhizomelia
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata xsd:anyURI {source="GARD:0013160"}
 
@@ -313539,7 +313496,7 @@ xref: SCTID:266401007 {source="DOID:10316"}
 xref: SCTID:40122008 {source="DOID:10316", source="MONDO:equivalentTo"}
 xref: UMLS:C0032273 {source="NCIT:C26861", source="ORDO:182098/e", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098"}
 is_a: MONDO:0017027 {source="Orphanet:182098"} ! primary interstitial lung disease specific to adulthood
-relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary Interstitial morphology
+relationship: disease_has_feature HP:0006530 ! Interstitial pulmonary abnormality
 
 [Term]
 id: MONDO:0015927
@@ -316351,7 +316308,7 @@ xref: SCTID:32491009 {source="DOID:11760"}
 xref: UMLS:C0158444 {source="MONDO:equivalentTo", source="DOID:11760"}
 xref: UMLS:CN200840 {source="MONDO:equivalentTo"}
 is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054"} ! osteochondrosis
-relationship: disease_has_feature HP:0010885 ! Avascular necrosis
+relationship: disease_has_feature HP:0010885 ! Aseptic necrosis
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6842/kohler-disease xsd:anyURI {source="GARD:0006842"}
 
 [Term]
@@ -331990,7 +331947,7 @@ xref: Orphanet:269523 {source="MONDO:equivalentTo"}
 xref: UMLS:CN202468 {source="MONDO:equivalentTo"}
 is_a: MONDO:0015220 {source="Orphanet:269523"} ! syndrome with a central nervous system malformation as major feature
 intersection_of: MONDO:0002254 ! syndromic disease
-intersection_of: disease_has_major_feature HP:0001317 ! Abnormal cerebellum morphology
+intersection_of: disease_has_major_feature HP:0001317 ! Abnormality of the cerebellum
 
 [Term]
 id: MONDO:0017119
@@ -348644,8 +348601,8 @@ xref: Orphanet:36387 {source="MONDO:equivalentTo", source="DOID:0060170"}
 xref: SCTID:699688008 {source="MONDO:equivalentTo"}
 xref: UMLS:C3502809 {source="MONDO:equivalentTo", source="Orphanet:36387", source="NCIT:C122811"}
 is_a: MONDO:0005027 {source="https://www.clinicalgenome.org/affiliation/40005/"} ! epilepsy
-relationship: disease_has_feature HP:0002069 ! Bilateral tonic-clonic seizure
-relationship: disease_has_feature HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
+relationship: disease_has_feature HP:0002069 ! Generalized tonic-clonic seizures
+relationship: disease_has_feature HP:0002373 ! Febrile seizures
 relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811", source="linkedlifedata"} ! epilepsy, idiopathic generalized
 property_value: confidence "1.1309583424662981" xsd:double
 
@@ -351463,7 +351420,7 @@ xref: Orphanet:399846 {source="MONDO:obsoleteEquivalent"}
 is_a: MONDO:0018397 {source="MONDO:Redundant", source="Orphanet:399839", source="indirect"} ! female infertility due to hypothalamic-pituitary-gonadal axis disorder
 is_a: MONDO:0018411 {source="MONDO:Redundant", source="Orphanet:399839"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
 intersection_of: MONDO:0021124 ! female infertility
-intersection_of: disease_arises_from_feature HP:0000044 ! Hypogonadotropic hypogonadism
+intersection_of: disease_arises_from_feature HP:0000044 ! Hypogonadotrophic hypogonadism
 relationship: disease_has_feature MONDO:0018398 {source="Orphanet:399846"} ! female infertility due to a congenital hypogonadotropic hypogonadism
 relationship: has_modifier MONDO:0021136 {source="Orphanet:399846"} ! rare
 
@@ -355318,7 +355275,7 @@ is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731"} ! non-s
 intersection_of: MONDO:0018814 ! non-severe combined immunodeficiency
 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6853 ! MAP3K14
 relationship: disease_has_basis_in_disruption_of GO:0007249 {source="doi:10.1038/ncomms6360"} ! I-kappaB kinase/NF-kappaB signaling
-relationship: disease_has_feature HP:0004313 {source="doi:10.1038/ncomms6360"} ! Decreased circulating antibody level
+relationship: disease_has_feature HP:0004313 {source="doi:10.1038/ncomms6360"} ! Decreased antibody level in blood
 relationship: disease_has_feature HP:0010976 {source="doi:10.1038/ncomms6360"} ! B lymphocytopenia
 
 [Term]
@@ -357363,7 +357320,7 @@ xref: Orphanet:477738 {source="MONDO:equivalentTo"}
 xref: UMLS:CN037005 {source="MONDO:equivalentTo"}
 is_a: MONDO:0016428 {source="Orphanet:477738"} ! multiple sclerosis variant
 intersection_of: MONDO:0016428 ! multiple sclerosis variant
-intersection_of: has_modifier HP:0410280 ! Pediatric onset
+intersection_of: has_modifier HP:0410280
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis xsd:anyURI {source="GARD:0010443"}
 
 [Term]
@@ -412676,8 +412633,8 @@ is_a: MONDO:0000001 {source="Orphanet:370088", source="indirect"} ! disease or d
 is_a: MONDO:0000023 {source="DC-OMIM:615438", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure
 is_a: MONDO:0015508 {source="Orphanet:370088", source="indirect"} ! genetic parenchymatous liver disease
 intersection_of: MONDO:0000023 ! infantile liver failure
-intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6512 ! LARS1
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6512 {source="mim2gene_medgen"} ! LARS1
+intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6512 ! LARS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6512 {source="mim2gene_medgen"} ! LARS
 relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare
 
 [Term]
@@ -422740,7 +422697,7 @@ name: pediatric-onset Graves disease
 subset: ordo_disease
 xref: Orphanet:525731 {source="MONDO:equivalentTo"}
 intersection_of: MONDO:0005364 ! Graves disease
-intersection_of: has_modifier HP:0410280 ! Pediatric onset
+intersection_of: has_modifier HP:0410280
 
 [Term]
 id: MONDO:0033926
@@ -437155,7 +437112,7 @@ xref: OMIM:618170 {source="MONDO:equivalentTo"}
 xref: UMLS:C4748527 {source="OMIM:618170"}
 is_a: MONDO:0003847 {source="OMIM:618170"} ! Mendelian disease
 is_a: MONDO:0024237 ! inherited neurodegenerative disorder
-relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21304 ! ADPRS
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21304 ! ADPRHL2
 relationship: has_modifier HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance
 created_by: http://orcid.org/0000-0001-5208-3432
 
@@ -437188,7 +437145,7 @@ is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/
 intersection_of: MONDO:0005550 ! infectious disease
 intersection_of: realized_in_response_to_stimulus NCBITaxon:2697049 ! Severe acute respiratory syndrome coronavirus 2
 relationship: disease_has_feature HP:0000458 {source="PMID:32215896", source="PMID:32237238", source="PMID:32240279", source="doi:10.1101/2020.03.25.009084", source="https://github.com/monarch-initiative/mondo/issues/1373"} ! Anosmia
-relationship: disease_has_feature HP:0041051 {source="PMID:32237238", source="https://github.com/monarch-initiative/mondo/issues/1373"} ! Ageusia
+relationship: disease_has_feature HP:0041051 {source="PMID:32237238", source="https://github.com/monarch-initiative/mondo/issues/1373"}
 created_by: http://orcid.org/0000-0001-5208-3432
 
 [Term]
@@ -437464,7 +437421,7 @@ def: "Acute respiratory distress syndromet that occurs in pediatric patients and
 synonym: "PARDS" EXACT ABBREVIATION [PMID:25647235, PMID:31236307]
 is_a: MONDO:0006502 ! acute respiratory distress syndrome
 intersection_of: MONDO:0006502 ! acute respiratory distress syndrome
-intersection_of: has_modifier HP:0410280 ! Pediatric onset
+intersection_of: has_modifier HP:0410280
 created_by: http://orcid.org/0000-0001-5208-3432
 
 [Term]
@@ -437524,7 +437481,7 @@ xref: SCTID:230437002 {source="MONDO:equivalentTo"}
 xref: UMLS:C0751122 {source="NCIT:C116573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
 is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10585 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! SCN1A
-relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizure (within the age range of 3 months to 6 years)
+relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizures
 relationship: disease_has_feature MONDO:0015922 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://github.com/monarch-initiative/mondo/issues/1835", source="https://orcid.org/0000-0001-7090-9648", source="https://orcid.org/0000-0001-8486-0558"} ! channelopathy with epilepsy
 relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental and epileptic encephalopathy, 6
 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome xsd:string {source="GARD:0010430"}
@@ -437648,7 +437605,7 @@ intersection_of: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/4
 intersection_of: has_modifier HP:0001417 {source="https://clinicalgenome.org/affiliation/40006/"} ! X-linked inheritance
 relationship: disease_has_feature HP:0000729 {source="https://clinicalgenome.org/affiliation/40006/"} ! Autistic behavior
 relationship: disease_has_feature HP:0001249 {source="https://clinicalgenome.org/affiliation/40006/"} ! Intellectual disability
-relationship: disease_has_feature HP:0001250 {source="https://clinicalgenome.org/affiliation/40006/"} ! Seizure
+relationship: disease_has_feature HP:0001250 {source="https://clinicalgenome.org/affiliation/40006/"} ! Seizures
 created_by: http://orcid.org/0000-0001-5208-3432
 
 [Term]
@@ -437763,7 +437720,7 @@ synonym: "SARS-CoV-2 Kawasaki-like syndrome" EXACT [PMID:32439816]
 xref: DOID:0080711 {source="MONDO:equivalentTo"}
 xref: NCIT:C172127 {source="MONDO:equivalentTo"}
 is_a: MONDO:0100096 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! COVID-19
-relationship: has_modifier HP:0410280 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! Pediatric onset
+relationship: has_modifier HP:0410280 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"}
 relationship: realized_in_response_to_stimulus NCBITaxon:2697049 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! Severe acute respiratory syndrome coronavirus 2
 created_by: http://orcid.org/0000-0001-5208-3432