@@ -804,7 +804,6 @@ MESH C535549 Pelvic lipomatosis HP HP:0034009 Pelvic lipomatosis
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MESH C535580 Najjar syndrome DOID DOID :0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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805
MESH C535653 Acrokeratoelastoidosis of Costa DOID DOID :0060362 punctate palmoplantar keratoderma type III
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MESH C535653 Acrokeratoelastoidosis of Costa EFO 1000758 punctate palmoplantar keratoderma type III
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- MESH C535694 Malignant hyperthermia susceptibility type 1 EFO 0009071 malignant hyperthermia, susceptibility to, 1
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MESH C535703 Malouf syndrome DOID DOID :0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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MESH C535734 Muscular dystrophy, tardive Emery-Dreifuss type, with contractures DOID DOID :0070246 X-linked Emery-Dreifuss muscular dystrophy 1
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MESH C535739 Congenital disorder of glycosylation type 1A HGNC 9115 PMM2
@@ -874,6 +873,7 @@ MESH C553867 neryl formate CHEBI CHEBI:31648 (E)-geranyl formate
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MESH C554889 geranoic acid CHEBI CHEBI :67264 geranic acid
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MESH C555618 methionol CHEBI CHEBI :49019 3-methylthiopropanol
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MESH C557580 trichloroisocyanuric acid CHEBI CHEBI :33015 1,3,5-trichloro-1,3,5-triazinane-2,4,6-trione
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+ MESH C557820 Orofaciodigital syndrome 8 DOID DOID :0060378 orofaciodigital syndrome VIII
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877
MESH C558346 1,1',3,3'-tetraethyl-5,5',6,6'-tetrachloro-benzimidazolocarbocyanine iodide CHEBI CHEBI :52097 1,1',3,3'-tetraethyl-5,5',6,6'-tetrachloroimidacarbocyanine iodide
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MESH C559777 1H-imidazol-4-ylacetic acid CHEBI CHEBI :16974 imidazol-4-ylacetic acid
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MESH C559987 pitrakinra HGNC 6014 IL4
@@ -882,15 +882,12 @@ MESH C561601 cytidine-5'-monophosphosialic acid CHEBI CHEBI:16556 CMP-N-acetyl-b
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MESH C561658 1-(2,6-dichloro-alpha,alpha,alpha-trifluoro-p-tolyl)-5-(2-methylamino)-4-(trifluoromethylsulfinyl)pyrazole-3-carbonitrile CHEBI CHEBI :146240 flufiprole
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883
MESH C562429 Polydactyly, Postaxial HP HP :0100259 Postaxial polydactyly
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MESH C562694 Epilepsy, Idiopathic Generalized EFO 0005917 generalised epilepsy
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- MESH C562803 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency HP HP :6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity
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- MESH C562803 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency DOID DOID :0060949 3-hydroxyisobutryl-CoA hydrolase deficiency
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MESH C562842 Carcinoid Tumors, Intestinal EFO 1000852 carcinoid syndrome
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MESH C563037 Arthritis, Sacroiliac HP HP :0012317 Sacroiliac arthritis
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MESH C563139 Mental Retardation, X-Linked 16 DOID DOID :0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome
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MESH C563146 Mental Retardation, X-Linked 30 DOID DOID :0112051 non-syndromic X-linked intellectual disability 30
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MESH C563151 Mental Retardation, X-Linked 47 DOID DOID :0112051 non-syndromic X-linked intellectual disability 30
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MESH C563395 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 DOID DOID :0110527 autosomal recessive nonsyndromic deafness 8
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- MESH C563422 Palmoplantar Keratoderma, Nonepidermolytic DOID DOID :0050428 nonepidermolytic palmoplantar keratoderma
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MESH C563775 Myotilinopathy DOID DOID :0080094 myofibrillar myopathy 3
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MESH C563948 Spinal Muscular Atrophy, Type IV DOID DOID :0050529 adult spinal muscular atrophy
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MESH C564050 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis DOID DOID :0111767 X-linked thrombocytopenia with beta-thalassemia
@@ -907,6 +904,7 @@ MESH C565078 Lewy Body Variant of Alzheimer Disease DOID DOID:12217 Lewy body de
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MESH C565097 Digitotalar Dysmorphism DOID DOID :0111596 distal arthrogryposis type 1
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MESH C565341 Deafness, Autosomal Recessive 10 DOID DOID :0110527 autosomal recessive nonsyndromic deafness 8
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MESH C565706 3-Methylglutaconic Aciduria, Type V DOID DOID :0110000 3-methylglutaconic aciduria type 5
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+ MESH C566096 Syndactyly, Type I DOID DOID :0111816 syndactyly type 1
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MESH C566774 Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal EFO 0010279 GIST-plus syndrome
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MESH C566870 Tumoral Calcinosis, Hyperphosphatemic, Familial DOID DOID :0111063 hyperphosphatemic familial tumoral calcinosis
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MESH C567546 Corneal Dystrophy, Posterior Amorphous DOID DOID :0060452 posterior amorphous corneal dystrophy
@@ -931,6 +929,7 @@ MESH C586921 1-methylpyrrolidin-2-one CHEBI CHEBI:7307 N-methylpyrrolidin-2-one
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MESH C586966 4-pyridinecarbohydrazide CHEBI CHEBI :6030 isoniazide
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MESH D000012 Abetalipoproteinemia HP HP :0001927 Acanthocytosis
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MESH D000050 Acanthocytes HP HP :0001927 Acanthocytosis
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+ MESH D000067877 Autism Spectrum Disorder DOID DOID :0060042 atypical autism
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MESH D000068116 Gender Dysphoria DOID DOID :1234 gender incongruence
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MESH D000069585 Filgrastim HGNC 2438 CSF3
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MESH D000070156 Nogo Receptors HGNC 18601 RTN4R
@@ -942,6 +941,7 @@ MESH D000071837 Fibrillins GO GO:0001527 microfibril
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MESH D000072503 Cytochrome P450 Family 46 HGNC 2641 CYP46A1
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MESH D000072556 Cholesterol 24-Hydroxylase HGNC 2641 CYP46A1
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MESH D000072661 Ciliopathies DOID DOID :0060340 ciliopathy
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+ MESH D000073842 Trisomy 18 Syndrome DOID DOID :0060378 orofaciodigital syndrome VIII
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MESH D000074009 Tubular Sweat Gland Adenomas DOID DOID :5445 syringocystadenoma papilliferum
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MESH D000074058 Solute Carrier Family 22 Member 5 HGNC 10969 SLC22A5
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MESH D000074283 Endothelial Protein C Receptor HGNC 9452 PROCR
@@ -967,8 +967,6 @@ MESH D000088123 Cytoplasmic Ribonucleoprotein Granules GO GO:0036464 cytoplasmic
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MESH D000088123 Cytoplasmic Ribonucleoprotein Granules GO GO :0035770 ribonucleoprotein granule
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MESH D000090722 Dihydroorotate Dehydrogenase HGNC 2867 DHODH
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MESH D000092004 Tyrosine Kinase Inhibitors CHEBI CHEBI :38637 tyrosine kinase inhibitor
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- MESH D000093642 Uterine Didelphys HP HP :0003762 Uterus didelphys
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- MESH D000093662 Uterine Duplication Anomalies HP HP :0003762 Uterus didelphys
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MESH D000094122 Polyhydroxybutyrates CHEBI CHEBI :53388 poly(hydroxybutyrate)
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MESH D000096743 Interferon gamma Receptor HGNC 5439 IFNGR1
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MESH D000096743 Interferon gamma Receptor FPLX Interferon_gamma_receptor Interferon_gamma_receptor
@@ -1064,6 +1062,7 @@ MESH D002578 Uterine Cervical Dysplasia HP HP:0032131 Cervical dysplasia
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MESH D002578 Uterine Cervical Dysplasia HP HP :0032242 Cervical intraepithelial neoplasia
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MESH D002583 Uterine Cervical Neoplasms HP HP :0032241 Cervical neoplasm
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MESH D002583 Uterine Cervical Neoplasms DOID DOID :0060325 cervical polyp
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+ MESH D002659 Child Development Disorders, Pervasive DOID DOID :0060042 atypical autism
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MESH D002703 Chloranil CHEBI CHEBI :36703 tetrachloro-1,4-benzoquinone
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MESH D002766 Cholecystokinin HGNC 1569 CCK
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MESH D002787 Sterol Esterase HGNC 1848 CEL
@@ -1094,8 +1093,6 @@ MESH D003398 Craniosynostoses EFO 0700077 isolated plagiocephaly
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MESH D003440 Croup HP HP :0033000 Subglottic laryngitis
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MESH D003516 Cycloparaffins CHEBI CHEBI :33642 cyclic olefin
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MESH D003516 Cycloparaffins CHEBI CHEBI :23453 cycloalkane
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- MESH D003528 Carcinoma, Adenoid Cystic DOID DOID :660 adrenal cortex cancer
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- MESH D003528 Carcinoma, Adenoid Cystic HP HP :0031024 Cylindroma
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MESH D003542 Cystathionine gamma-Lyase HGNC 2501 CTH
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MESH D003569 Cytidine Monophosphate N-Acetylneuraminic Acid CHEBI CHEBI :16556 CMP-N-acetyl-beta-neuraminic acid
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MESH D003575 Cytochromes c1 HGNC 2579 CYC1
@@ -1192,7 +1189,7 @@ MESH D007064 L-Iditol 2-Dehydrogenase HGNC 11184 SORD
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MESH D007174 Disruptive, Impulse Control, and Conduct Disorders HP HP :0000734 Disinhibition
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MESH D007174 Disruptive, Impulse Control, and Conduct Disorders HP HP :5200337 Compulsive stealing
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MESH D007335 Insulin-Like Growth Factor II HGNC 5466 IGF2
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- MESH D007439 Introversion, Psychological HP HP :5200320 Diminishment of relationship seeking
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+ MESH D007439 Introversion, Psychological HP HP :5200320 Decreased seeking of relationships
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MESH D007453 Iodide Peroxidase FPLX Deiodinase Deiodinase
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MESH D007453 Iodide Peroxidase HGNC 21071 IYD
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MESH D007453 Iodide Peroxidase HGNC 12015 TPO
@@ -1234,7 +1231,6 @@ MESH D008124 Locomotion EFO 0003940 physical activity
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MESH D008263 Macrophage Migration-Inhibitory Factors HGNC 7097 MIF
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MESH D008291 Malate Dehydrogenase HGNC 8923 PHGDH
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MESH D008303 Malignant Carcinoid Syndrome EFO 1000852 carcinoid syndrome
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- MESH D008305 Malignant Hyperthermia EFO 0009071 malignant hyperthermia, susceptibility to, 1
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MESH D008555 Melitten CHEBI CHEBI :6736 melittin
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MESH D008570 Memory, Short-Term EFO 0004335 short-term memory
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MESH D008570 Memory, Short-Term GO GO :0007614 short-term memory
@@ -1260,7 +1256,6 @@ MESH D009320 Atrial Natriuretic Factor HGNC 4877 HESX1
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MESH D009320 Atrial Natriuretic Factor HGNC 7939 NPPA
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MESH D009414 Nerve Growth Factors HGNC 1033 BDNF
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MESH D009496 Neurotensin HGNC 8038 NTS
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- MESH D009507 Nevus of Ota EFO 1000395 Nevus of Ito
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MESH D009556 Niobium CHEBI CHEBI :33344 niobium atom
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MESH D009556 Niobium CHEBI CHEBI :52460 niobium-93 atom
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MESH D009572 Nitrite Reductases HGNC 14077 NGB
@@ -1294,7 +1289,6 @@ MESH D010744 Phosphoric Monoester Hydrolases FPLX Phosphatase Phosphatase
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MESH D010749 Phosphoprotein Phosphatases FPLX Phosphatase Phosphatase
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MESH D010751 Phosphopyruvate Hydratase FPLX ENO ENO
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MESH D010751 Phosphopyruvate Hydratase HGNC 3350 ENO1
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- MESH D010859 Pigmentation Disorders EFO 1000395 Nevus of Ito
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MESH D010871 Pinealoma DOID DOID :0081248 pineocytoma
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MESH D010871 Pinealoma DOID DOID :1664 pineoblastoma
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MESH D010937 Plant Growth Regulators CHEBI CHEBI :37848 plant hormone
@@ -1347,7 +1341,7 @@ MESH D012717 Sesquiterpenes CHEBI CHEBI:35189 sesquiterpene
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MESH D012717 Sesquiterpenes CHEBI CHEBI :26658 sesquiterpenoid
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MESH D012794 Sialic Acids CHEBI CHEBI :26667 sialic acid
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MESH D012838 Silymarin CHEBI CHEBI :9144 silibinin
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- MESH D012934 Social Isolation HP HP :5200320 Diminishment of relationship seeking
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+ MESH D012934 Social Isolation HP HP :5200320 Decreased seeking of relationships
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MESH D013007 Growth Hormone-Releasing Hormone HGNC 4265 GHRH
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MESH D013130 Spinal Stenosis HP HP :0004610 Lumbar spinal canal stenosis
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MESH D013130 Spinal Stenosis HP HP :0003416 Spinal canal stenosis
@@ -1365,6 +1359,7 @@ MESH D013451 Sulfonic Acids CHEBI CHEBI:29214 sulfonic acid
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MESH D013451 Sulfonic Acids CHEBI CHEBI :33551 organosulfonic acid
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MESH D013463 Sulfuric Acid Esters CHEBI CHEBI :25704 organic sulfate
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MESH D013463 Sulfuric Acid Esters CHEBI CHEBI :26819 sulfuric ester
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+ MESH D013576 Syndactyly DOID DOID :0111816 syndactyly type 1
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MESH D013611 Tachycardia, Atrioventricular Nodal Reentry EFO 1001843 sinoatrial nodal reentry tachycardia
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MESH D013611 Tachycardia, Atrioventricular Nodal Reentry HP HP :0011717 Atrioventricular reentrant tachycardia
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MESH D013649 Taste GO GO :0050909 sensory perception of taste
@@ -1418,7 +1413,6 @@ MESH D015470 Leukemia, Myeloid, Acute DOID DOID:0081086 acute myeloid leukemia w
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MESH D015572 Spiramycin CHEBI CHEBI :85260 spiramycin I
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MESH D015618 Histiocytosis, Sinus DOID DOID :0111278 histiocytosis-lymphadenopathy plus syndrome
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MESH D015763 2-Amino-5-phosphonovalerate CHEBI CHEBI :138644 2-amino-5-phosphonopentanoic acid
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- MESH D015776 Keratoderma, Palmoplantar, Diffuse DOID DOID :0050428 nonepidermolytic palmoplantar keratoderma
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MESH D015786 Cytochromes b5 HGNC 2570 CYB5A
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MESH D015786 Cytochromes b5 CHEBI CHEBI :18097 ferricytochrome b5
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MESH D015842 Serine Proteinase Inhibitors CHEBI CHEBI :5924 EC 3.4.21.* (serine endopeptidase) inhibitor
@@ -1478,7 +1472,6 @@ MESH D018281 Cholangiocarcinoma DOID DOID:0111595 congenital contractural arachn
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MESH D018281 Cholangiocarcinoma DOID DOID :4928 intrahepatic cholangiocarcinoma
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MESH D018317 Nerve Sheath Neoplasms DOID DOID :962 neurofibroma
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MESH D018317 Nerve Sheath Neoplasms DOID DOID :5940 malignant peripheral nerve sheath tumor
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- MESH D018329 Nevus, Blue HP HP :0100814 Blue nevus
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MESH D018350 alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid CHEBI CHEBI :28812 (aminomethyl)phosphonic acid
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MESH D018442 Lymphoma, B-Cell, Marginal Zone DOID DOID :0050748 marginal zone lymphoma
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MESH D018442 Lymphoma, B-Cell, Marginal Zone DOID DOID :0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
@@ -1626,7 +1619,6 @@ MESH D048031 JNK Mitogen-Activated Protein Kinases HGNC 6881 MAPK8
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MESH D048031 JNK Mitogen-Activated Protein Kinases FPLX JNK JNK
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MESH D048068 PPAR-beta HGNC 9235 PPARD
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MESH D049071 Endopeptidase Clp HGNC 2084 CLPP
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- MESH D049328 Mongolian Spot HP HP :0100814 Blue nevus
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MESH D049488 Phosphatidylethanolamine Binding Protein HGNC 8630 PEBP1
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MESH D049992 Sodium Chloride Symporters HGNC 10912 SLC12A3
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MESH D050031 Hashimoto Disease EFO 0002200 HT
@@ -1684,8 +1676,6 @@ MESH D054659 Diketopiperazines CHEBI CHEBI:16535 piperazine-2,5-dione
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MESH D054697 Cytostatic Agents CHEBI CHEBI :35610 antineoplastic agent
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MESH D054804 Cathelicidins CHEBI CHEBI :81578 cathelicidin
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MESH D054804 Cathelicidins HGNC 1472 CAMP
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- MESH D054990 Idiopathic Pulmonary Fibrosis DOID DOID :0060941 interstitial lung disease 1
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- MESH D054990 Idiopathic Pulmonary Fibrosis HP HP :0031950 Usual interstitial pneumonia
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MESH D055009 Spondylosis EFO 0009610 cervical spondylosis
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MESH D055009 Spondylosis EFO 0009477 vertebral joint disease
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MESH D055252 Cell-Derived Microparticles GO GO :0072562 blood microparticle
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