123 687 0 http://purl.obolibrary.org/obo/OBI_0000415 PCR 'PCR' SubClassOf 'seq library selection' 'PCR' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0002941 transcription profiling by SAGE 'transcription profiling by SAGE' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002943 transcription profiling by RT-PCR 'transcription profiling by RT-PCR' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002942 transcription profiling by MPSS 'transcription profiling by MPSS' SubClassOf 'ArrayExpress experiment type' http://purl.obolibrary.org/obo/OBI_0000552 reverse transcription PCR 'reverse transcription PCR' SubClassOf 'seq library selection' 'reverse transcription PCR' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_1001209 temporal arteritis 'temporal arteritis' SubClassOf 'vasculitis' 'temporal arteritis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009011 http://www.ebi.ac.uk/efo/EFO_0000751 methylation profiling 'methylation profiling' SubClassOf 'experimental process' 'methylation profiling' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0000752 metabolomic profiling 'metabolomic profiling' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0000753 microRNA profiling by array 'microRNA profiling by array' SubClassOf 'Atlas experiment type' 'microRNA profiling by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0000747 antigen profiling 'antigen profiling' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0000748 ChIP-Chip 'ChIP-Chip' SubClassOf 'experimental process' 'ChIP-Chip' SubClassOf http://purl.obolibrary.org/obo/OBI_0001700 'ChIP-Chip' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0000749 comparative genomic hybridization by array 'comparative genomic hybridization by array' SubClassOf 'ArrayExpress experiment type' 'comparative genomic hybridization by array' SubClassOf 'Atlas experiment type' http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' SubClassOf 'digestive system disease' 'splenic infarction' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.orpha.net/ORDO/Orphanet_79301 Congenital bile acid synthesis defect type 1 'Congenital bile acid synthesis defect type 1' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect type 1' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009039 http://www.orpha.net/ORDO/Orphanet_79303 Congenital bile acid synthesis defect type 2 'Congenital bile acid synthesis defect type 2' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect type 2' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009039 http://www.orpha.net/ORDO/Orphanet_79302 Congenital bile acid synthesis defect type 3 'Congenital bile acid synthesis defect type 3' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect type 3' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009039 http://www.ebi.ac.uk/efo/EFO_0002091 biological replicate 'biological replicate' SubClassOf 'Atlas Quality Control type' http://www.ebi.ac.uk/efo/EFO_0002090 technical replicate 'technical replicate' SubClassOf 'Atlas Quality Control type' http://purl.obolibrary.org/obo/OBI_0001142 dye swap quality control role 'dye swap quality control role' SubClassOf 'Atlas Quality Control type' 'dye swap quality control role' SubClassOf 'role' http://www.ebi.ac.uk/efo/EFO_1000861 cervical rib syndrome 'cervical rib syndrome' SubClassOf 'reproductive system disease' 'cervical rib syndrome' SubClassOf 'thoracic outlet syndrome' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009001 http://www.ebi.ac.uk/efo/EFO_0003741 pooled clone sequencing 'pooled clone sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003742 clone by clone sequencing 'clone by clone sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003746 random exon sequencing 'random exon sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003743 clone end sequencing 'clone end sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003744 whole genome shotgun sequencing 'whole genome shotgun sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003749 MeDIP-seq 'MeDIP-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003747 amplicon sequencing 'amplicon sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003748 MRE-seq 'MRE-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_1000819 arteriolosclerosis 'arteriolosclerosis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009086 http://www.ebi.ac.uk/efo/EFO_0001030 RNAi profiling by array 'RNAi profiling by array' SubClassOf 'Atlas experiment type' 'RNAi profiling by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0001031 tiling path by array 'tiling path by array' SubClassOf 'Atlas experiment type' 'tiling path by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0001033 translation profiling 'translation profiling' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_1000975 hypersplenism 'hypersplenism' SubClassOf 'digestive system disease' 'hypersplenism' SubClassOf 'hematological system disease' 'hypersplenism' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_0003914 atherosclerosis 'atherosclerosis' SubClassOf 'vascular disease' 'atherosclerosis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009086 http://www.ebi.ac.uk/efo/EFO_0003752 DNase-Hypersensitivity seq 'DNase-Hypersensitivity seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003753 Bisulfite-seq 'Bisulfite-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003750 MBD-seq 'MBD-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003751 MNase-seq 'MNase-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003754 EST sequencing 'EST sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0003755 FL-cDNA 'FL-cDNA' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect type 4' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009039 http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'vasculitis' 'Takayasu arteritis' SubClassOf 'eye disease' 'Takayasu arteritis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009011 http://www.ebi.ac.uk/efo/EFO_1000549 Splenic Mantle Cell Lymphoma 'Splenic Mantle Cell Lymphoma' SubClassOf 'digestive system disease' 'Splenic Mantle Cell Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_0002759 methylation profiling by array 'methylation profiling by array' SubClassOf 'Atlas experiment type' 'methylation profiling by array' SubClassOf 'DNA assay' 'methylation profiling by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_1000547 Splenic Diffuse Large B-Cell Lymphoma 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'digestive system disease' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_1000548 Splenic Hodgkin Lymphoma 'Splenic Hodgkin Lymphoma' SubClassOf 'digestive system disease' 'Splenic Hodgkin Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_1000550 Splenic Marginal Zone Lymphoma 'Splenic Marginal Zone Lymphoma' SubClassOf 'digestive system disease' 'Splenic Marginal Zone Lymphoma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'hematological system disease' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009001 http://www.ebi.ac.uk/efo/EFO_0002770 transcription profiling by high throughput sequencing 'transcription profiling by high throughput sequencing' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002771 genotyping by high throughput sequencing 'genotyping by high throughput sequencing' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002761 methylation profiling by high throughput sequencing 'methylation profiling by high throughput sequencing' SubClassOf 'DNA assay' 'methylation profiling by high throughput sequencing' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002760 ChIP-chip by array 'ChIP-chip by array' SubClassOf 'Atlas experiment type' 'ChIP-chip by array' SubClassOf 'DNA assay' 'ChIP-chip by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002762 ChIP-chip by tiling array 'ChIP-chip by tiling array' SubClassOf 'ArrayExpress experiment type' 'ChIP-chip by tiling array' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0002765 proteomic profiling by array 'proteomic profiling by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002764 ChIP-chip by SNP array 'ChIP-chip by SNP array' SubClassOf 'DNA assay' 'ChIP-chip by SNP array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002767 genotyping by array 'genotyping by array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002766 proteomic profiling by mass spectrometer 'proteomic profiling by mass spectrometer' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002769 transcription profiling by tiling array 'transcription profiling by tiling array' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0002768 transcription profiling by array 'transcription profiling by array' SubClassOf 'ArrayExpress experiment type' 'transcription profiling by array' SubClassOf 'Atlas experiment type' http://www.ebi.ac.uk/efo/EFO_0005297 Wegener's granulomatosis 'Wegener's granulomatosis' SubClassOf 'heart disease' 'Wegener's granulomatosis' SubClassOf 'skin disease' 'Wegener's granulomatosis' SubClassOf 'kidney disease' 'Wegener's granulomatosis' SubClassOf 'vasculitis' 'Wegener's granulomatosis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0005219 TraDIS sequencing 'TraDIS sequencing' SubClassOf 'ArrayExpress experiment type' http://www.ebi.ac.uk/efo/EFO_0004178 reduced representation preparation 'reduced representation preparation' SubClassOf 'seq library selection' 'reduced representation preparation' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004175 Methylation Spanning Linker Library (MSLL) processing 'Methylation Spanning Linker Library (MSLL) processing' SubClassOf 'seq library selection' 'Methylation Spanning Linker Library (MSLL) processing' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004176 ChIP 'ChIP' SubClassOf 'seq library selection' 'ChIP' SubClassOf http://purl.obolibrary.org/obo/OBI_0001700 http://www.ebi.ac.uk/efo/EFO_0004179 restriction digest 'restriction digest' SubClassOf 'seq library selection' 'restriction digest' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004180 DNA selection through 5-methylcytidine antibody 'DNA selection through 5-methylcytidine antibody' SubClassOf 'seq library selection' 'DNA selection through 5-methylcytidine antibody' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004181 cap analysis gene expression 'cap analysis gene expression' SubClassOf 'seq library selection' 'cap analysis gene expression' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004162 CTS (Concatenated Tag Sequencing) 'CTS (Concatenated Tag Sequencing)' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0004163 SOLiD native qual format 'SOLiD native qual format' SubClassOf 'seq file type' 'SOLiD native qual format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004160 whole chromosome random sequencing 'whole chromosome random sequencing' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0004161 finishing sequencing assay 'finishing sequencing assay' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0004166 Illumina native fastq format 'Illumina native fastq format' SubClassOf 'seq file type' 'Illumina native fastq format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004167 RAPD 'RAPD' SubClassOf 'seq library selection' 'RAPD' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004164 Illumina native qseq format 'Illumina native qseq format' SubClassOf 'seq file type' 'Illumina native qseq format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004165 Illumina native scarf format 'Illumina native scarf format' SubClassOf 'seq file type' 'Illumina native scarf format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004168 hypomethylated partial restriction digest 'hypomethylated partial restriction digest' SubClassOf 'seq library selection' 'hypomethylated partial restriction digest' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004169 methyl filtration 'methyl filtration' SubClassOf 'seq library selection' 'methyl filtration' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004170 nucleic acid sequencing protocol 'nucleic acid sequencing protocol' SubClassOf 'seq library selection' http://www.ebi.ac.uk/efo/EFO_0004185 enrichment of methylated DNA 'enrichment of methylated DNA' SubClassOf 'seq library selection' 'enrichment of methylated DNA' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004182 Rapid Amplification of cDNA Ends 'Rapid Amplification of cDNA Ends' SubClassOf 'seq library selection' 'Rapid Amplification of cDNA Ends' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004183 size fractionation 'size fractionation' SubClassOf 'seq library selection' 'size fractionation' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004188 hybrid selection of targets 'hybrid selection of targets' SubClassOf 'seq library selection' 'hybrid selection of targets' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004186 Deoxyribonuclease digestion 'Deoxyribonuclease digestion' SubClassOf 'seq library selection' 'Deoxyribonuclease digestion' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004187 cDNA library construction 'cDNA library construction' SubClassOf 'seq library selection' 'cDNA library construction' SubClassOf http://purl.obolibrary.org/obo/OBI_0000711 http://www.ebi.ac.uk/efo/EFO_0004111 seq file type flag 'seq file type flag' SubClassOf 'validation flag' 'seq file type flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004112 seq library strategy flag 'seq library strategy flag' SubClassOf 'validation flag' 'seq library strategy flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004110 validation flag 'validation flag' SubClassOf 'information entity' 'validation flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004115 seq instrument model flag 'seq instrument model flag' SubClassOf 'validation flag' 'seq instrument model flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004116 QC type flag 'QC type flag' SubClassOf 'validation flag' 'QC type flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004113 seq library source flag 'seq library source flag' SubClassOf 'validation flag' 'seq library source flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004114 seq library selection flag 'seq library selection flag' SubClassOf 'validation flag' 'seq library selection flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004119 AE experiment type flag 'AE experiment type flag' SubClassOf 'validation flag' 'AE experiment type flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004117 Atlas experiment type flag 'Atlas experiment type flag' SubClassOf 'validation flag' 'Atlas experiment type flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004118 factor type flag 'factor type flag' SubClassOf 'validation flag' 'factor type flag' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004101 validation type 'validation type' SubClassOf 'information entity' 'validation type' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004104 seq library source 'seq library source' SubClassOf 'validation type' 'seq library source' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004105 seq library selection 'seq library selection' SubClassOf 'experimental process' 'seq library selection' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004102 seq library strategy 'seq library strategy' SubClassOf 'assay' 'seq library strategy' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004103 seq file type 'seq file type' SubClassOf 'data format specification' 'seq file type' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004108 Atlas experiment type 'Atlas experiment type' SubClassOf 'experimental process' 'Atlas experiment type' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004106 seq instrument model 'seq instrument model' SubClassOf 'instrument' 'seq instrument model' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004107 Atlas Quality Control type 'Atlas Quality Control type' SubClassOf 'role' 'Atlas Quality Control type' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004120 ArrayExpress experiment type 'ArrayExpress experiment type' SubClassOf 'experimental process' 'ArrayExpress experiment type' SubClassOf 'obsolete class' http://www.ebi.ac.uk/efo/EFO_0004155 FASTQ format 'FASTQ format' SubClassOf 'seq file type' 'FASTQ format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004156 Standard Flowgram Format (SFF) 'Standard Flowgram Format (SFF)' SubClassOf 'seq file type' 'Standard Flowgram Format (SFF)' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004154 Sequence Read Format (SRF) 'Sequence Read Format (SRF)' SubClassOf 'seq file type' 'Sequence Read Format (SRF)' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004159 SOLiD native csfasta format 'SOLiD native csfasta format' SubClassOf 'seq file type' 'SOLiD native csfasta format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004157 BAM format 'BAM format' SubClassOf 'seq file type' 'BAM format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0004158 random RNA-Seq across whole transcriptome 'random RNA-Seq across whole transcriptome' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0005630 CEL data file format 'CEL data file format' SubClassOf 'seq file type' 'CEL data file format' SubClassOf 'data format specification' http://www.ebi.ac.uk/efo/EFO_0005517 RIP-Chip by array 'RIP-Chip by array' SubClassOf 'ArrayExpress experiment type' 'RIP-Chip by array' SubClassOf 'Atlas experiment type' 'RIP-Chip by array' SubClassOf http://purl.obolibrary.org/obo/OBI_0001700 'RIP-Chip by array' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0004265 peripheral arterial disease 'peripheral arterial disease' SubClassOf 'atherosclerosis' http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency 'primary ovarian insufficiency' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009003 http://www.ebi.ac.uk/efo/EFO_0004428 FAIRE-seq 'FAIRE-seq' SubClassOf 'seq library strategy' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'heart disease' 'Churg-Strauss syndrome' SubClassOf 'nervous system disease' 'Churg-Strauss syndrome' SubClassOf 'kidney disease' 'Churg-Strauss syndrome' SubClassOf 'skin disease' 'Churg-Strauss syndrome' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'digestive system disease' 'splenic tuberculosis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'digestive system disease' 'spleen cancer' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009002 http://www.ebi.ac.uk/efo/EFO_0005032 IP-seq 'IP-seq' SubClassOf 'ArrayExpress experiment type' 'IP-seq' SubClassOf http://purl.obolibrary.org/obo/OBI_0001700 http://www.ebi.ac.uk/efo/EFO_0005033 RIP 'RIP' SubClassOf 'experimental process' 'RIP' SubClassOf http://purl.obolibrary.org/obo/OBI_0001700 http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007540 viral hepatitis 'viral hepatitis' SubClassOf 'viral human hepatitis infection' 'viral hepatitis' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/HP_0004401 Meconium ileus 'Meconium ileus' SubClassOf 'gastrointestinal obstruction' http://purl.obolibrary.org/obo/CHEBI_72995 3-hydroxybutyrylcarnitine '3-hydroxybutyrylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0004325 Decreased body weight 'Decreased body weight' SubClassOf 'abnormality of body weight' http://purl.obolibrary.org/obo/CHEBI_45441 N-acetyl-L-serine 'N-acetyl-L-serine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_32111 saccharin 'saccharin' SubClassOf 'benzothiadiazole' http://purl.obolibrary.org/obo/HP_0030680 Abnormality of cardiovascular system morphology 'Abnormality of cardiovascular system morphology' SubClassOf 'Abnormality of the cardiovascular system' http://purl.obolibrary.org/obo/CHEBI_5855 ibuprofen 'ibuprofen' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_57277 3-(3-hydroxyphenyl)propanoate '3-(3-hydroxyphenyl)propanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_20070 3-hydroxyhexanoate '3-hydroxyhexanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_5832 hypaphorine 'hypaphorine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0004209 Clinodactyly of the 5th finger 'Clinodactyly of the 5th finger' SubClassOf 'Clinodactyly' http://purl.obolibrary.org/obo/CHEBI_19065 1-methylinosine '1-methylinosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_21363 methionine sulfone 'methionine sulfone' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_22660 aspartic acid 'aspartic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_22653 asparagine 'asparagine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_11951 4-acetamidobutanoate '4-acetamidobutanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35907 glutarate(1-) 'glutarate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_22605 arabitol 'arabitol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_46904 oxalate(1-) 'oxalate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_2274 7-methylguanine '7-methylguanine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009004 hyperestrogenism 'hyperestrogenism' SubClassOf 'ovarian dysfunction' http://www.ebi.ac.uk/efo/EFO_0009005 premature menopause 'premature menopause' SubClassOf 'ovarian dysfunction' http://www.ebi.ac.uk/efo/EFO_0009006 hyperandrogenism 'hyperandrogenism' SubClassOf 'ovarian dysfunction' http://www.ebi.ac.uk/efo/EFO_0009007 Adrenal Hyperandrogenism 'Adrenal Hyperandrogenism' SubClassOf 'hyperandrogenism' http://www.ebi.ac.uk/efo/EFO_0009000 Mast Cell Neoplasm 'Mast Cell Neoplasm' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0009001 Mastocytosis 'Mastocytosis' SubClassOf 'Mast Cell Neoplasm' http://www.ebi.ac.uk/efo/EFO_0009002 splenic disease 'splenic disease' SubClassOf 'digestive system disease' 'splenic disease' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0009003 ovarian dysfunction 'ovarian dysfunction' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0009008 Ovarian Hyperandrogenism 'Ovarian Hyperandrogenism' SubClassOf 'hyperandrogenism' http://www.ebi.ac.uk/efo/EFO_0009009 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 'Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0009010 HSV2 virologic severity measurement 'HSV2 virologic severity measurement' SubClassOf 'infectious disease biomarker' http://www.ebi.ac.uk/efo/EFO_0009026 Bardet-Biedl syndrome 7 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009027 Bardet-Biedl syndrome 9 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009023 Bardet-Biedl syndrome 12 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009024 Bardet-Biedl syndrome 4 'Bardet-Biedl syndrome 4' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009025 Bardet-Biedl syndrome 5 'Bardet-Biedl syndrome 5' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009030 Cerebellar-facial-dental syndrome 'Cerebellar-facial-dental syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.ebi.ac.uk/efo/EFO_0009031 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_0009032 Combined oxidative phosphorylation defect type 21 'Combined oxidative phosphorylation defect type 21' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009015 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 'AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome' SubClassOf 'Rare genetic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009016 Ataxia-oculomotor apraxia type 4 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0009017 Autosomal recessive spastic paraplegia type 57 'Autosomal recessive spastic paraplegia type 57' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0009018 Autosomal recessive spastic paraplegia type 75 'Autosomal recessive spastic paraplegia type 75' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0009011 Arteritis 'Arteritis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_0009012 Polyarteritis Nodosa 'Polyarteritis Nodosa' SubClassOf 'heart disease' 'Polyarteritis Nodosa' SubClassOf 'skin disease' 'Polyarteritis Nodosa' SubClassOf 'kidney disease' 'Polyarteritis Nodosa' SubClassOf 'Arteritis' http://www.ebi.ac.uk/efo/EFO_0009013 in vitro transcription 'in vitro transcription' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia '3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia' SubClassOf '3-methylglutaconic aciduria' http://www.ebi.ac.uk/efo/EFO_0009019 Autosomal recessive spastic paraplegia type 76 'Autosomal recessive spastic paraplegia type 76' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0009020 Aymé-Gripp syndrome 'Aymé-Gripp syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009021 Bardet-Biedl syndrome 1 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009048 Intrahepatic cholestasis of pregnancy 'Intrahepatic cholestasis of pregnancy' SubClassOf 'Rare metabolic liver disease' http://www.ebi.ac.uk/efo/EFO_0009049 Juvenile nephropathic cystinosis 'Juvenile nephropathic cystinosis' SubClassOf 'Cystinosis' http://www.ebi.ac.uk/efo/EFO_0009044 Fanconi anemia complementation group A 'Fanconi anemia complementation group A' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009045 Fanconi anemia complementation group F 'Fanconi anemia complementation group F' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009046 Fanconi anemia complementation group G 'Fanconi anemia complementation group G' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009047 Hyperpigmentation of the skin 'Hyperpigmentation of the skin' SubClassOf 'abnormality of the skin' http://www.ebi.ac.uk/efo/EFO_0009051 Non-immune hydrops fetalis 'Non-immune hydrops fetalis' SubClassOf 'abnormality of metabolism/homeostasis' http://www.ebi.ac.uk/efo/EFO_0009052 Pleuropulmonary blastoma 'Pleuropulmonary blastoma' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_0009053 Primary progressive aphasia 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009054 Pulmonary arterial hypertension associated with congenital heart disease 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'pulmonary hypertension' http://www.ebi.ac.uk/efo/EFO_0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009037 Combined oxidative phosphorylation defect type 27 'Combined oxidative phosphorylation defect type 27' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009038 Combined oxidative phosphorylation defect type 30 'Combined oxidative phosphorylation defect type 30' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009039 Congenital bile acid synthesis defect 'Congenital bile acid synthesis defect' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://www.ebi.ac.uk/efo/EFO_0009033 Combined oxidative phosphorylation defect type 23 'Combined oxidative phosphorylation defect type 23' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009034 Combined oxidative phosphorylation defect type 24 'Combined oxidative phosphorylation defect type 24' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009035 Combined oxidative phosphorylation defect type 25 'Combined oxidative phosphorylation defect type 25' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009036 Combined oxidative phosphorylation defect type 26 'Combined oxidative phosphorylation defect type 26' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_0009042 Estrogen resistance syndrome 'Estrogen resistance syndrome' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' http://purl.obolibrary.org/obo/CHEBI_81244 hyocholic acid 'hyocholic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_32389 all-cis-octadeca-6,9,12,15-tetraenoic acid 'all-cis-octadeca-6,9,12,15-tetraenoic acid' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0003236 Elevated serum creatine phosphokinase 'Elevated serum creatine phosphokinase' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://purl.obolibrary.org/obo/CHEBI_32387 alpha-linolenate 'alpha-linolenate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32395 arachidonate 'arachidonate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32393 erucate 'erucate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32391 gamma-linolenate 'gamma-linolenate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/OBI_0000711 library preparation 'library preparation' SubClassOf 'experimental process' http://purl.obolibrary.org/obo/CHEBI_32366 margarate 'margarate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32362 heptanoate 'heptanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32360 arachidate 'arachidate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_18095 trans-4-hydroxy-L-proline 'trans-4-hydroxy-L-proline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_44337 N-acetyl-L-glutamate(2-) 'N-acetyl-L-glutamate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_4828 ergothioneine 'ergothioneine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_32372 palmitoleate 'palmitoleate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32370 myristoleate 'myristoleate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_45658 S-methylcysteine 'S-methylcysteine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_21626 N-acetylphenylalanine 'N-acetylphenylalanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_18005 keto-phenylpyruvate 'keto-phenylpyruvate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/CHEBI_19289 N(2),N(2)-dimethylguanosine 'N(2),N(2)-dimethylguanosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria 'Hyperglycinuria' SubClassOf 'abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/CHEBI_57562 (R)-2-hydroxyoctadecanoate '(R)-2-hydroxyoctadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_21549 N-acetyl-L-glutamate(1-) 'N-acetyl-L-glutamate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_33527 ribonate 'ribonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_21557 N-acetyl-L-methionine 'N-acetyl-L-methionine' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_21565 N-acetyl-L-valine 'N-acetyl-L-valine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003196 Short nose 'Short nose' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/CHEBI_46819 urate salt 'urate salt' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_46828 quinolinate(1-) 'quinolinate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002243 Protein-losing enteropathy 'Protein-losing enteropathy' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/CHEBI_73924 His-Ala 'His-Ala' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_604731 pyrraline 'pyrraline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003530 Glutaric acidemia 'Glutaric acidemia' SubClassOf 'acidosis' http://purl.obolibrary.org/obo/HP_0003546 Exercise intolerance 'Exercise intolerance' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CHEBI_60645 2-hydroxy-3-methylbutyric acid '2-hydroxy-3-methylbutyric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_73858 1-stearoyl-sn-glycero-3-phosphocholine '1-stearoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0002194 Delayed gross motor development 'Delayed gross motor development' SubClassOf 'Motor delay' http://purl.obolibrary.org/obo/CHEBI_71201 xanthurenate 'xanthurenate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_48999 4-hydroxyphenylacetate '4-hydroxyphenylacetate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_48991 7-methylxanthine '7-methylxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_48942 isovalerate 'isovalerate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_84573 1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine '1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_84567 1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine '1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_24996 lactate 'lactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_23614 deoxycholate 'deoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_545959 homovanillate (HVA) 'homovanillate (HVA)' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_5457 glycerophosphoglycerol 'glycerophosphoglycerol' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination 'CNS hypomyelination' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_58165 3',5'-cyclic AMP(1-) '3',5'-cyclic AMP(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly 'Ventriculomegaly' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0003457 EMG abnormality 'EMG abnormality' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0003458 EMG: myopathic abnormalities 'EMG: myopathic abnormalities' SubClassOf 'EMG abnormality' http://www.ebi.ac.uk/efo/EFO_0009066 clcn4-related disorder 'clcn4-related disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009067 combined partial 17-alpha-hydroxylase/17,20-lyase deficiency 'combined partial 17-alpha-hydroxylase/17,20-lyase deficiency' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'pulmonary blastoma' http://www.ebi.ac.uk/efo/EFO_0009069 hepatic methionine adenosyltransferase deficiency 'hepatic methionine adenosyltransferase deficiency' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009073 methylmalonic aciduria (cobalamin deficiency) cblA type 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009074 methylmalonic aciduria cblb type 'methylmalonic aciduria cblb type' SubClassOf 'Classic organic aciduria' http://www.ebi.ac.uk/efo/EFO_0009075 neuropathy, hereditary motor and sensory, type vib 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Hereditary motor and sensory neuropathy type 6' http://www.ebi.ac.uk/efo/EFO_0009076 nonsyndromic deafness 'nonsyndromic deafness' SubClassOf 'deafness' http://www.ebi.ac.uk/efo/EFO_0009070 intellectual developmental disorder with dysmorphic facies and ptosis 'intellectual developmental disorder with dysmorphic facies and ptosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'Malignant hyperthermia' http://www.ebi.ac.uk/efo/EFO_0009072 mbd5 associated neurodevelopmental disorder 'mbd5 associated neurodevelopmental disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 'Spinocerebellar ataxia type 42' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.ebi.ac.uk/efo/EFO_0009055 RIDDLE syndrome 'RIDDLE syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.ebi.ac.uk/efo/EFO_0009056 Spinocerebellar ataxia type 38 'Spinocerebellar ataxia type 38' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.ebi.ac.uk/efo/EFO_0009057 Spinocerebellar ataxia type 40 'Spinocerebellar ataxia type 40' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0009058 Spinocerebellar ataxia type 41 'Spinocerebellar ataxia type 41' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://purl.obolibrary.org/obo/CHEBI_11596 2-hydroxyglutarate(2-) '2-hydroxyglutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002079 Hypoplasia of the corpus callosum 'Hypoplasia of the corpus callosum' SubClassOf 'abnormality of brain morphology' http://www.ebi.ac.uk/efo/EFO_0009062 Temple-Baraitser syndrome 'Temple-Baraitser syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009063 Wolfram-like syndrome 'Wolfram-like syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'Porphyria' http://www.ebi.ac.uk/efo/EFO_0009065 calcium oxalate urolithiasis 'calcium oxalate urolithiasis' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009060 Spinocerebellar ataxia type 43 'Spinocerebellar ataxia type 43' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0009061 TELO2-related intellectual disability-neurodevelopmental disorder 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009088 dissociation protocol 'dissociation protocol' SubClassOf 'protocol' http://www.ebi.ac.uk/efo/EFO_0009089 enrichment protocol 'enrichment protocol' SubClassOf 'protocol' http://www.ebi.ac.uk/efo/EFO_0009090 enrichment process 'enrichment process' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0009091 dissociation process 'dissociation process' SubClassOf 'experimental process' http://purl.obolibrary.org/obo/CHEBI_46215 O(4')-sulfo-L-tyrosine 'O(4')-sulfo-L-tyrosine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009077 premature chromatid separation trait 'premature chromatid separation trait' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009078 stag1-related disorder 'stag1-related disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009079 white-sutton syndrome 'white-sutton syndrome' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009084 Endarteritis 'Endarteritis' SubClassOf 'Arteritis' http://www.ebi.ac.uk/efo/EFO_0009085 arterial occlusive disease 'arterial occlusive disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0009086 arteriosclerosis 'arteriosclerosis' SubClassOf 'arterial occlusive disease' http://www.ebi.ac.uk/efo/EFO_0009087 non-typhoidal Salmonella bacteremia 'non-typhoidal Salmonella bacteremia' SubClassOf 'cardiovascular disease' 'non-typhoidal Salmonella bacteremia' SubClassOf 'bacteriemia' http://www.ebi.ac.uk/efo/EFO_0009080 x-linked ichthyosis with steryl-sulfatase deficiency 'x-linked ichthyosis with steryl-sulfatase deficiency' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0009081 Heterotaxia 'Heterotaxia' SubClassOf 'growth abnormality' http://purl.obolibrary.org/obo/HP_0002094 Dyspnea 'Dyspnea' SubClassOf 'Abnormality of the respiratory system' http://www.ebi.ac.uk/efo/EFO_0009082 Pilomatrixoma 'Pilomatrixoma' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/HP_0002093 Respiratory insufficiency 'Respiratory insufficiency' SubClassOf 'Abnormality of the respiratory system' http://www.ebi.ac.uk/efo/EFO_0009083 absent or delayed speech development 'absent or delayed speech development' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_84415 acetyltaurine 'acetyltaurine' SubClassOf 'amide' http://purl.obolibrary.org/obo/HP_0002031 Abnormality of esophagus morphology 'Abnormality of esophagus morphology' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/CHEBI_24898 isoleucine 'isoleucine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_71179 O-tiglylcarnitine 'O-tiglylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24809 indole-3-carboxylic acid 'indole-3-carboxylic acid' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_11805 3-hydroxyisobutyrate '3-hydroxyisobutyrate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_3165 bradykinin 'bradykinin' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002465 Poor speech 'Poor speech' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0002460 Distal Muscle weakness 'Distal Muscle weakness' SubClassOf 'Muscle weakness' http://purl.obolibrary.org/obo/HP_0002474 Expressive language delay 'Expressive language delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0003752 Episodic flaccid weakness 'Episodic flaccid weakness' SubClassOf 'Muscle weakness' http://purl.obolibrary.org/obo/CHEBI_5757 homostachydrine 'homostachydrine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_83501 acesulfame 'acesulfame' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_71466 oleoyl ethanolamide 'oleoyl ethanolamide' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_71464 palmitoyl ethanolamide 'palmitoyl ethanolamide' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_21264 L-cysteine glutathione disulfide 'L-cysteine glutathione disulfide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_22595 arabinonate 'arabinonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001082 Cholecystitis 'Cholecystitis' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/CHEBI_35804 citrate(1-) 'citrate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35808 citrate(2-) 'citrate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003614 Trimethylaminuria 'Trimethylaminuria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0001007 Hirsutism 'Hirsutism' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0002342 Intellectual disability, moderate 'Intellectual disability, moderate' SubClassOf 'Intellectual disability' http://purl.obolibrary.org/obo/HP_0002353 EEG abnormality 'EEG abnormality' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0002355 Difficulty walking 'Difficulty walking' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0002376 Developmental regression 'Developmental regression' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_58386 (S)-2-hydroxyoctadecanoate '(S)-2-hydroxyoctadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0002304 Akinesia 'Akinesia' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/HP_0002313 Spastic paraparesis 'Spastic paraparesis' SubClassOf 'Hypertonia' http://purl.obolibrary.org/obo/OBI_0001700 immunoprecipitation assay 'immunoprecipitation assay' SubClassOf 'assay' http://purl.obolibrary.org/obo/CHEBI_58454 kynurenate 'kynurenate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_84634 O-tetradecanoyl-L-carnitine 'O-tetradecanoyl-L-carnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_73990 2-oleoylglycerol '2-oleoylglycerol' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_72665 12,13-DiHOME '12,13-DiHOME' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_72663 9,10-DiHOME '9,10-DiHOME' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_84647 O-[(9Z)-tetradecenoyl]-L-carnitine 'O-[(9Z)-tetradecenoyl]-L-carnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration 'Abnormality of neuronal migration' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_72689 O-oleoylcarnitine 'O-oleoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002283 Global brain atrophy 'Global brain atrophy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0100698 Subcutaneous neurofibromas 'Subcutaneous neurofibromas' SubClassOf 'neurofibroma' http://purl.obolibrary.org/obo/CHEBI_16010 5-oxoproline '5-oxoproline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_32979 (S)-3-phenyllactate '(S)-3-phenyllactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17368 hypoxanthine 'hypoxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001310 Dysmetria 'Dysmetria' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/CHEBI_16020 1-methyladenosine '1-methyladenosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001319 Neonatal hypotonia 'Neonatal hypotonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CHEBI_16027 adenosine 5'-monophosphate 'adenosine 5'-monophosphate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness 'Muscle weakness' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CHEBI_17306 maltose 'maltose' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_17325 3-hydroxy-3-methylglutarate(2-) '3-hydroxy-3-methylglutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotrophic hypogonadism 'Hypogonadotrophic hypogonadism' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0000054 Micropenis 'Micropenis' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001382 Joint hypermobility 'Joint hypermobility' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0001332 Dystonia 'Dystonia' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/HP_0001344 Absent speech 'Absent speech' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_65097 2-hydroxypalmitate '2-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0001298 Encephalopathy 'Encephalopathy' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia 'Generalized hypotonia' SubClassOf 'muscular hypotonia' http://purl.obolibrary.org/obo/CHEBI_17388 (S)-1-pyrroline-5-carboxylate '(S)-1-pyrroline-5-carboxylate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_31697 indolin-2-one 'indolin-2-one' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17376 cystine 'cystine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_17394 N(5)-ethyl-L-glutamine 'N(5)-ethyl-L-glutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_7676 O-butanoylcarnitine 'O-butanoylcarnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_7671 O-acetylhomoserine 'O-acetylhomoserine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0002515 Waddling gait 'Waddling gait' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/CHEBI_17202 IMP 'IMP' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003811 Neonatal death 'Neonatal death' SubClassOf 'mortality' http://purl.obolibrary.org/obo/CHEBI_78208 azelaate(2-) 'azelaate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability 'Intellectual disability' SubClassOf 'cognitive impairment' http://purl.obolibrary.org/obo/HP_0001256 Intellectual disability, mild 'Intellectual disability, mild' SubClassOf 'Intellectual disability' http://purl.obolibrary.org/obo/HP_0001252 muscular hypotonia 'muscular hypotonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0001269 Hemiparesis 'Hemiparesis' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001263 global developmental delay 'global developmental delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001260 Dysarthria 'Dysarthria' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001274 Agenesis of corpus callosum 'Agenesis of corpus callosum' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001276 Hypertonia 'Hypertonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0001270 Motor delay 'Motor delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001272 Cerebellar atrophy 'Cerebellar atrophy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001273 Abnormality of the corpus callosum 'Abnormality of the corpus callosum' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0002536 Abnormal cortical gyration 'Abnormal cortical gyration' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0002540 Inability to walk 'Inability to walk' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/HP_0001182 Tapered finger 'Tapered finger' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_17268 myo-inositol 'myo-inositol' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_55535 (R)-2-hydroxy-4-methylpentanoate '(R)-2-hydroxy-4-methylpentanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_30245 linoleate 'linoleate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68848 gamma-Glu-Val 'gamma-Glu-Val' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17282 3-(indol-3-yl)lactate '3-(indol-3-yl)lactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_4047 L-cysteinylglycine 'L-cysteinylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000219 Thin upper lip vermilion 'Thin upper lip vermilion' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0000218 High palate 'High palate' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/CHEBI_17596 inosine 'inosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_77225 (7Z,10Z,13Z,16Z)-docosatetraenoate '(7Z,10Z,13Z,16Z)-docosatetraenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0001508 failure to thrive 'failure to thrive' SubClassOf 'Decreased body weight' http://purl.obolibrary.org/obo/CHEBI_17568 uracil 'uracil' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001518 Small for gestational age 'Small for gestational age' SubClassOf 'Decreased body weight' http://purl.obolibrary.org/obo/HP_0001522 Death in infancy 'Death in infancy' SubClassOf 'mortality' http://purl.obolibrary.org/obo/HP_0000286 Epicanthus 'Epicanthus' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/CHEBI_90242 caffeic acid 3-sulfate 'caffeic acid 3-sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17519 N-methyl-L-alanine 'N-methyl-L-alanine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus 'Hydrocephalus' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0000248 Brachycephaly 'Brachycephaly' SubClassOf 'Abnormality of the skull' http://purl.obolibrary.org/obo/HP_0000256 Macrocephaly 'Macrocephaly' SubClassOf 'Abnormality of the skull' http://purl.obolibrary.org/obo/HP_0000268 Dolichocephaly 'Dolichocephaly' SubClassOf 'Abnormality of the skull' http://purl.obolibrary.org/obo/CHEBI_28297 hydantoin-5-propionic acid 'hydantoin-5-propionic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_16150 benzoate 'benzoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000107 Renal cyst 'Renal cyst' SubClassOf 'Abnormality of the urinary system' http://purl.obolibrary.org/obo/CHEBI_17443 L-homocitrulline 'L-homocitrulline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_7896 hexadecanoate 'hexadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0000179 Thick lower lip vermilion 'Thick lower lip vermilion' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/CHEBI_89118 5-hydroxymethyl-2-furoic acid '5-hydroxymethyl-2-furoic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_89087 cotinine N-oxide 'cotinine N-oxide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000098 Tall stature 'Tall stature' SubClassOf 'growth abnormality' http://purl.obolibrary.org/obo/CHEBI_16199 urea 'urea' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16189 sulfate 'sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_18211 citrulline 'citrulline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy 'Brain atrophy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0012443 abnormality of brain morphology 'abnormality of brain morphology' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001798 Anonychia 'Anonychia' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000463 Anteverted nares 'Anteverted nares' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/HP_0012448 Delayed myelination 'Delayed myelination' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_70811 N-(indol-3-ylacetyl)glutamine 'N-(indol-3-ylacetyl)glutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000400 Macrotia 'Macrotia' SubClassOf 'Abnormality of the pinna' http://purl.obolibrary.org/obo/HP_0000408 Progressive sensorineural hearing impairment 'Progressive sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' http://purl.obolibrary.org/obo/CHEBI_320061 methyl alpha-D-glucopyranoside 'methyl alpha-D-glucopyranoside' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000426 Prominent nasal bridge 'Prominent nasal bridge' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/CHEBI_320055 methyl beta-D-glucopyranoside 'methyl beta-D-glucopyranoside' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000431 Wide nasal bridge 'Wide nasal bridge' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus 'Talipes equinovarus' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001761 Pes cavus 'Pes cavus' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_70857 O-3-methylglutarylcarnitine 'O-3-methylglutarylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0011198 EEG with generalized epileptiform discharges 'EEG with generalized epileptiform discharges' SubClassOf 'EEG abnormality' http://purl.obolibrary.org/obo/HP_0000486 Strabismus 'Strabismus' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0000485 Megalocornea 'Megalocornea' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0000494 Downslanted palpebral fissures 'Downslanted palpebral fissures' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0000490 Deeply set eye 'Deeply set eye' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0011098 Speech apraxia 'Speech apraxia' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/CHEBI_67249 N-acetylcarnosine 'N-acetylcarnosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68568 O-adipoylcarnitine 'O-adipoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68561 N-acetyltyrosine 'N-acetyltyrosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_18262 dodecanoate 'dodecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_18261 N-carbamoyl-beta-alanine 'N-carbamoyl-beta-alanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68503 3-methyladipic acid '3-methyladipic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_33871 glycerate 'glycerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_18257 ornithine 'ornithine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_45826 N-acetyl-L-threonine 'N-acetyl-L-threonine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000316 Hypertelorism 'Hypertelorism' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0000322 Short philtrum 'Short philtrum' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0001653 Mitral regurgitation 'Mitral regurgitation' SubClassOf 'Abnormality of the cardiovascular system' http://purl.obolibrary.org/obo/HP_0002980 Femoral bowing 'Femoral bowing' SubClassOf 'Bowing of the long bones' http://purl.obolibrary.org/obo/HP_0002987 Elbow flexion contracture 'Elbow flexion contracture' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/HP_0000347 Micrognathia 'Micrognathia' SubClassOf 'Abnormality of the mandible' http://purl.obolibrary.org/obo/HP_0000348 High forehead 'High forehead' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/CHEBI_8551 Protein N6,N6,N6-trimethyl-L-lysine 'Protein N6,N6,N6-trimethyl-L-lysine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002944 Thoracolumbar scoliosis 'Thoracolumbar scoliosis' SubClassOf 'scoliosis' http://purl.obolibrary.org/obo/HP_0001642 Pulmonic stenosis 'Pulmonic stenosis' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0001643 Patent ductus arteriosus 'Patent ductus arteriosus' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/CHEBI_70749 O-hexanoylcarnitine 'O-hexanoylcarnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0000369 Low-set ears 'Low-set ears' SubClassOf 'Abnormality of the outer ear' http://purl.obolibrary.org/obo/CHEBI_68443 1-methylxanthine '1-methylxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68434 gamma-Glu-Ile 'gamma-Glu-Ile' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_32484 glutamate residue 'glutamate residue' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0002904 Hyperbilirubinemia 'Hyperbilirubinemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://purl.obolibrary.org/obo/CHEBI_116314 oleamide 'oleamide' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_18102 O-octanoyl-L-carnitine 'O-octanoyl-L-carnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_18123 N-methylnicotinate 'N-methylnicotinate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000682 Abnormality of dental enamel 'Abnormality of dental enamel' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0011342 Mild global developmental delay 'Mild global developmental delay' SubClassOf 'global developmental delay' http://purl.obolibrary.org/obo/HP_0012675 iron accumulation in brain 'iron accumulation in brain' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0011344 severe global developmental delay 'severe global developmental delay' SubClassOf 'global developmental delay' http://purl.obolibrary.org/obo/CHEBI_17120 hexanoate 'hexanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_17126 carnitine 'carnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17113 erythritol 'erythritol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis 'Diffuse mesangial sclerosis' SubClassOf 'Abnormality of the urinary system' http://purl.obolibrary.org/obo/HP_0001987 Hyperammonemia 'Hyperammonemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://purl.obolibrary.org/obo/HP_0000664 Synophrys 'Synophrys' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/CHEBI_18401 phenylacetate 'phenylacetate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001999 abnormal facial shape 'abnormal facial shape' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0009053 Distal lower limb Muscle weakness 'Distal lower limb Muscle weakness' SubClassOf 'Distal Muscle weakness' http://purl.obolibrary.org/obo/HP_0009063 Progressive distal Muscle weakness 'Progressive distal Muscle weakness' SubClassOf 'Distal Muscle weakness' http://purl.obolibrary.org/obo/HP_0011398 Central hypotonia 'Central hypotonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CHEBI_78060 docosahexaenoate 'docosahexaenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_78075 icosenoate 'icosenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0000618 Blindness 'Blindness' SubClassOf 'Visual impairment' http://purl.obolibrary.org/obo/HP_0001956 Truncal obesity 'Truncal obesity' SubClassOf 'obesity' http://purl.obolibrary.org/obo/CHEBI_55430 1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine '1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_17151 xylitol 'xylitol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_17154 nicotinamide 'nicotinamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_19641 2-hydroxyisobutyrate '2-hydroxyisobutyrate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0011220 Prominent forehead 'Prominent forehead' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0000581 Blepharophimosis 'Blepharophimosis' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0000582 Upslanted palpebral fissure 'Upslanted palpebral fissure' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0000512 Abnormal electroretinogram 'Abnormal electroretinogram' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CHEBI_82916 3-(1H-indol-3-yl)propanoate '3-(1H-indol-3-yl)propanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82912 N-(2-furoyl)glycine 'N-(2-furoyl)glycine' SubClassOf 'furan' http://purl.obolibrary.org/obo/CHEBI_82911 thymol sulfate 'thymol sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_82914 p-cresol sulfate 'p-cresol sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82913 3-O-methyldopa '3-O-methyldopa' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0000527 Long eyelashes 'Long eyelashes' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000529 Progressive visual loss 'Progressive visual loss' SubClassOf 'Visual impairment' http://purl.obolibrary.org/obo/CHEBI_82927 1-palmitoyl-2-linoleoyl-sn-glycerol '1-palmitoyl-2-linoleoyl-sn-glycerol' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_70958 1-methylhistidine '1-methylhistidine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_70959 3-methylhistidine '3-methylhistidine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0000535 Sparse and thin eyebrow 'Sparse and thin eyebrow' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/CHEBI_82932 4-ethylphenyl sulfate '4-ethylphenyl sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82931 4-vinylphenol sulfate '4-vinylphenol sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82942 4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate '4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_70979 N-isobutyrylglycine 'N-isobutyrylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82957 3-hydroxyisovalerate '3-hydroxyisovalerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_70984 N-isovalerylglycine 'N-isovalerylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82965 gamma-Glu-Met 'gamma-Glu-Met' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_82966 gamma-glutamylphenylalanine 'gamma-glutamylphenylalanine' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_82969 gamma-Glu-Tyr 'gamma-Glu-Tyr' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_82968 gamma-glutamylthreonine 'gamma-glutamylthreonine' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_82986 3-carboxy-4-methyl-5-propyl-2-furanpropanoate '3-carboxy-4-methyl-5-propyl-2-furanpropanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82982 glycodeoxycholate 'glycodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_78053 docosapentaenoate 'docosapentaenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_43355 indoxyl sulfate 'indoxyl sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68641 (-)-cotinine '(-)-cotinine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_55329 16-hydroxypalmitate '16-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_57998 3-phosphoglycerate(3-) '3-phosphoglycerate(3-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_42027 1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine '1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_45996 ribothymidine 'ribothymidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_57987 2-hydroxyadipate(2-) '2-hydroxyadipate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17084 2-hydroxyglutaric acid '2-hydroxyglutaric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/HP_0000505 Visual impairment 'Visual impairment' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CHEBI_30031 succinate(2-) 'succinate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_68616 N-cinnamoylglycine 'N-cinnamoylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_32635 paracetamol sulfate 'paracetamol sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_32643 5-acetamido-6-formamido-3-methyluracil '5-acetamido-6-formamido-3-methyluracil' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17033 biliverdin 'biliverdin' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_64564 thioproline 'thioproline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_64552 2-hydroxybutyrate '2-hydroxybutyrate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_87248 ethyl glucuronide 'ethyl glucuronide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15595 malate(2-) 'malate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15598 2-methylcitrate (3-) '2-methylcitrate (3-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27570 histidine 'histidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16893 sphinganine-1-phosphate 'sphinganine-1-phosphate' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_40521 N(alpha)-acetyl-L-arginine 'N(alpha)-acetyl-L-arginine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15588 (R)-malate(2-) '(R)-malate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15589 (S)-malate(2−) '(S)-malate(2−)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28867 O-propanoylcarnitine 'O-propanoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16870 choline alfoscerate 'choline alfoscerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28821 piperine 'piperine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16953 N-acetyl-L-aspartate(2-) 'N-acetyl-L-aspartate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16947 citrate(3-) 'citrate(3-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15611 sarcosine 'sarcosine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0000857 Neonatal insulin-dependent diabetes mellitus 'Neonatal insulin-dependent diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/HP_0011504 Bull's eye maculopathy 'Bull's eye maculopathy' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CHEBI_89836 propionylglycine 'propionylglycine' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_8100 3-phenyllactate '3-phenyllactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_132917 2-isopropylmalate '2-isopropylmalate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000823 Delayed puberty 'Delayed puberty' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0011451 Congenital microcephaly 'Congenital microcephaly' SubClassOf 'Microcephaly' http://purl.obolibrary.org/obo/CHEBI_9407 taurochenodeoxycholate 'taurochenodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000767 Pectus excavatum 'Pectus excavatum' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/HP_0000774 Narrow chest 'Narrow chest' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_27487 3-(imidazol-5-yl)lactic acid '3-(imidazol-5-yl)lactic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_75168 1-oleoyl-sn-glycero-3-phosphoethanolamine '1-oleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0012745 Short palpebral fissure 'Short palpebral fissure' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/CHEBI_40410 N-acetylglycine 'N-acetylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_88494 Epsilon-(gamma-Glutamyl)-lysine 'Epsilon-(gamma-Glutamyl)-lysine' SubClassOf 'acid' http://purl.obolibrary.org/obo/HP_0000790 Hematuria 'Hematuria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/CHEBI_27468 5,6-dihydrothymine '5,6-dihydrothymine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16763 2-oxobutanoate '2-oxobutanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16797 1-methylnicotinamide '1-methylnicotinamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27410 N-methyl-6-pyridone-3-carboxamide 'N-methyl-6-pyridone-3-carboxamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28757 fructose 'fructose' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_28717 O-decanoyl-L-carnitine 'O-decanoyl-L-carnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_16734 N-acetyl-D-tryptophan 'N-acetyl-D-tryptophan' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28733 1-linoleoyl-sn-glycero-3-phosphocholine '1-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15428 glycine 'glycine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_16810 2-oxoglutarate(2-) '2-oxoglutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16831 3-hydroxy-3-methylglutaric acid '3-hydroxy-3-methylglutaric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_16815 enol-phenylpyruvate 'enol-phenylpyruvate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_9349 sulfonyldimethane 'sulfonyldimethane' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000733 Stereotypy 'Stereotypy' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/HP_0000735 Impaired social interactions 'Impaired social interactions' SubClassOf 'behavioral abnormality' http://purl.obolibrary.org/obo/CHEBI_64489 1-myristoyl-sn-glycero-3-phosphocholine '1-myristoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_9307 succinimide 'succinimide' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_77761 piperidin-2-one 'piperidin-2-one' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_106363 sphingomyelin d18:1/16:1 'sphingomyelin d18:1/16:1' SubClassOf 'sphingomyelin' http://purl.obolibrary.org/obo/CHEBI_37154 fumarate(1-) 'fumarate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_37156 maleate (-1) 'maleate (-1)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_26490 quinate 'quinate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_107726 sphingomyelin d18:1/24:1 'sphingomyelin d18:1/24:1' SubClassOf 'sphingomyelin' http://purl.obolibrary.org/obo/CHEBI_88765 pregnanediol-3-glucuronide 'pregnanediol-3-glucuronide' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_75450 1-oleoyl-2-linoleoyl-glycerol (18:1/18:2) '1-oleoyl-2-linoleoyl-glycerol (18:1/18:2)' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_88670 dihomo-linoleate (20:2n6) 'dihomo-linoleate (20:2n6)' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_37054 3-hydroxybutyrate '3-hydroxybutyrate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin 'Abnormal blistering of the skin' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/CHEBI_49033 methionine S-oxide 'methionine S-oxide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74066 Ile-Gly 'Ile-Gly' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_86051 O-otanoyl-D-carnitine 'O-otanoyl-D-carnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_74074 allopurinol riboside 'allopurinol riboside' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74077 S-allylcysteine 'S-allylcysteine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_49006 N-acetylcitrulline 'N-acetylcitrulline' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_25017 leucine 'leucine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_86094 1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine '1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_15676 allantoin 'allantoin' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27689 decanoate 'decanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16962 cortisone 'cortisone' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16958 beta-alanine 'beta-alanine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_28946 theobromine 'theobromine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27622 vanillylmandelate 'vanillylmandelate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15724 trimethylamine N-oxide 'trimethylamine N-oxide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000957 Cafe-au-lait spot 'Cafe-au-lait spot' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/HP_0000954 Single transverse palmar crease 'Single transverse palmar crease' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/HP_0000978 Bruising susceptibility 'Bruising susceptibility' SubClassOf 'Subcutaneous hemorrhage' http://purl.obolibrary.org/obo/CHEBI_76616 3-hydroxylaurate '3-hydroxylaurate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_89963 N-Butyrylglycine 'N-Butyrylglycine' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_49096 3-aminoisobutyrate '3-aminoisobutyrate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000934 Chondrocalcinosis 'Chondrocalcinosis' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/CHEBI_74000 1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine '1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_106304 sphingomyelin d18:1/16:0 'sphingomyelin d18:1/16:0' SubClassOf 'sphingomyelin' http://purl.obolibrary.org/obo/CHEBI_75342 1-oleoylglycerol '1-oleoylglycerol' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_30779 succinate(1-) 'succinate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30780 maleate (-2) 'maleate (-2)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16454 pantothenate 'pantothenate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17786 N-acetyl-L-leucine 'N-acetyl-L-leucine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30762 salicylate 'salicylate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17771 trans-urocanate 'trans-urocanate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17774 pimelate(1-) 'pimelate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_78796 nonadecanoate 'nonadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_89454 17-Hydroxypregnenolone sulfate '17-Hydroxypregnenolone sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_29747 cholate 'cholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_29746 glycocholate 'glycocholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16437 N-acetyl-L-histidine 'N-acetyl-L-histidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17768 N-acetylputrescine 'N-acetylputrescine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17750 glycine betaine 'glycine betaine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17752 N(6)-acetyl-L-lysine 'N(6)-acetyl-L-lysine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17754 glycerol 'glycerol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_17755 cystathionine 'cystathionine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_17724 N,N-dimethylglycine 'N,N-dimethylglycine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_17802 pseudouridine 'pseudouridine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0011968 feeding difficulties 'feeding difficulties' SubClassOf 'Abdominal symptom' http://purl.obolibrary.org/obo/HP_0011974 Myelofibrosis 'Myelofibrosis' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/CHEBI_9008 salicyluric acid 'salicyluric acid' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15193 tartrate(2-) 'tartrate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_1941 4-(trimethylammonio)butanoic acid '4-(trimethylammonio)butanoic acid' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16393 sphingosine 'sphingosine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_28340 L-2-aminobutyrate 'L-2-aminobutyrate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0008250 Infantile hypercalcemia 'Infantile hypercalcemia' SubClassOf 'Hypercalcemia' http://purl.obolibrary.org/obo/CHEBI_88005 3-phosphoglycerate(2-) '3-phosphoglycerate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16345 3-sulfino-L-alanine '3-sulfino-L-alanine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_30623 oxalate(2-) 'oxalate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28315 alloxanthine 'alloxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_90344 N-methylproline 'N-methylproline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_89379 gamma-CEHC 'gamma-CEHC' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17649 hydroxymalonate(2-) 'hydroxymalonate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76078 2-palmitoyl-sn-glycero-3-phosphocholine '2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_76071 2-oleoyl-sn-glycero-3-phosphocholine '2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy 'Epileptic encephalopathy' SubClassOf 'Encephalopathy' http://purl.obolibrary.org/obo/CHEBI_76084 2-linoleoyl-sn-glycero-3-phosphocholine '2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_40070 4-hydroxycoumarin '4-hydroxycoumarin' SubClassOf 'coumarin' http://purl.obolibrary.org/obo/CHEBI_78604 ursodeoxycholate 'ursodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_78990 (10Z)-heptadecenoate '(10Z)-heptadecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_15361 pyruvate 'pyruvate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_75034 1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine '1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_16682 N-acetyl-beta-alanine 'N-acetyl-beta-alanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15354 choline 'choline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16680 S-adenosyl-L-homocysteine 'S-adenosyl-L-homocysteine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_29995 aspartate(2-) 'aspartate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27345 xylonate 'xylonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_75062 1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine '1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_15318 xanthine 'xanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28654 3-methyl-2-oxovalerate '3-methyl-2-oxovalerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28623 campesterol 'campesterol' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_29959 quinolinate(2-) 'quinolinate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16668 hypotaurine 'hypotaurine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16610 spermidine 'spermidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30921 glutarate(2-) 'glutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30920 3-hydroxy-3-methylglutarate(1-) '3-hydroxy-3-methylglutarate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28610 1-O-oleoyl-sn-glycero-3-phosphocholine '1-O-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16632 vanillate 'vanillate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16708 adenine 'adenine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16704 uridine 'uridine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0008513 Bilateral conductive hearing impairment 'Bilateral conductive hearing impairment' SubClassOf 'Abnormality of the ear' http://purl.obolibrary.org/obo/CHEBI_64395 1-arachidonoyl-sn-glycero-3-phosphoethanolamine '1-arachidonoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_64390 N-hexanoylglycine 'N-hexanoylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_51057 3-phenylpropionate '3-phenylpropionate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0010841 Multifocal epileptiform discharges 'Multifocal epileptiform discharges' SubClassOf 'EEG abnormality' http://purl.obolibrary.org/obo/HP_0010863 Receptive language delay 'Receptive language delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0010864 Intellectual disability, severe 'Intellectual disability, severe' SubClassOf 'Intellectual disability' http://purl.obolibrary.org/obo/CHEBI_78894 docosadienoate 'docosadienoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_27266 valine 'valine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_76233 2-linoleoyl-sn-glycero-3-phosphoethanolamine '2-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_78895 docosatrienoate 'docosatrienoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_15243 threonate 'threonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16566 sphinganine 'sphinganine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_30854 indole-3-acetate 'indole-3-acetate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76273 dodecanedioate(2-) 'dodecanedioate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76276 hexadecanedioate(2-) 'hexadecanedioate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30839 orotate 'orotate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17864 taurolithocholic acid sulfate 'taurolithocholic acid sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_17865 4-methyl-2-oxopentanoate '4-methyl-2-oxopentanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76281 tetradecanedioate (2-) 'tetradecanedioate (2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76283 sebacate(2-) 'sebacate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76282 suberate(2-) 'suberate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17859 glutaric acid 'glutaric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_30844 hydroxymalonate(1-) 'hydroxymalonate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16552 N-formyl-L-methionine 'N-formyl-L-methionine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17879 4-hydroxybenzoate '4-hydroxybenzoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30823 oleate 'oleate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_29806 fumarate(2-) 'fumarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30807 tetradecanoate 'tetradecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0009717 Cortical tubers 'Cortical tubers' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/CHEBI_60175 5-hydroxylysine '5-hydroxylysine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_132030 glycoursodeoxycholate 'glycoursodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24462 gulonic acid 'gulonic acid' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_36457 homocitrate (3-) 'homocitrate (3-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36458 homocitrate (2-) 'homocitrate (2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36459 homocitrate (-1) 'homocitrate (-1)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_25858 1,7-dimethylxanthine '1,7-dimethylxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74753 Pro-Ala 'Pro-Ala' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_74767 Pro-Hyp 'Pro-Hyp' SubClassOf 'amide' http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly 'Finger syndactyly' SubClassOf 'Syndactyly' http://purl.obolibrary.org/obo/CHEBI_84098 O-linoleyl-L-carnitine 'O-linoleyl-L-carnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_23098 chiro-inositol 'chiro-inositol' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_60008 glycolithocholate 'glycolithocholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_75927 (R)-2-hydroxypalmitate '(R)-2-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_75928 (S)-2-hydroxypalmitate '(S)-2-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_86612 dihydroferulic acid 'dihydroferulic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_74640 N-acetyl-L-tryptophan 'N-acetyl-L-tryptophan' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_25722 orotidine 'orotidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74670 1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine '1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0007333 Hypoplasia of the frontal lobes 'Hypoplasia of the frontal lobes' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/CHEBI_84056 N-acetylisoleucine 'N-acetylisoleucine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0007340 Lower limb Muscle weakness 'Lower limb Muscle weakness' SubClassOf 'Muscle weakness' http://purl.obolibrary.org/obo/HP_0030084 Clinodactyly 'Clinodactyly' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_61695 L-prolylglycine 'L-prolylglycine' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_35391 aspartate(1-) 'aspartate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35397 tartrate(1-) 'tartrate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_34071 1-arachidonoyl-sn-glycerol '1-arachidonoyl-sn-glycerol' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_73707 gamma-Glu-Gln 'gamma-Glu-Gln' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_73705 gamma-Glu-Glu 'gamma-Glu-Glu' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_86910 N-acetyl histidine 'N-acetyl histidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36791 escitalopram 'escitalopram' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73610 Met-Ala 'Met-Ala' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_24785 iminodiacetate 'iminodiacetate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74965 1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine '1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_35420 pregnenolone sulfate 'pregnenolone sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0008936 Muscular hypotonia of the trunk 'Muscular hypotonia of the trunk' SubClassOf 'muscular hypotonia' http://purl.obolibrary.org/obo/CHEBI_35418 N-acetylneuraminate 'N-acetylneuraminate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0008947 Infantile muscular hypotonia 'Infantile muscular hypotonia' SubClassOf 'muscular hypotonia' http://purl.obolibrary.org/obo/HP_0008942 Acute rhabdomyolysis 'Acute rhabdomyolysis' SubClassOf 'rhabdomyolysis' http://purl.obolibrary.org/obo/CHEBI_73699 Val-Gly 'Val-Gly' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_36711 phosphoethanolamine 'phosphoethanolamine' SubClassOf 'phosphate' http://purl.obolibrary.org/obo/CHEBI_11424 2,3-dihydroxy-3-methylbutanoate '2,3-dihydroxy-3-methylbutanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_83041 10-undecenoate '10-undecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83040 epiandrosterone sulfate 'epiandrosterone sulfate' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_83036 7alpha-hydroxy-3-oxo-4-cholestenoic acid '7alpha-hydroxy-3-oxo-4-cholestenoic acid' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83037 androsterone sulfate 'androsterone sulfate' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_83052 10-nonadecenoate '10-nonadecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83047 1-stearoyl-sn-glycero-3-phosphoethanolamine '1-stearoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_83046 5-dodecenoate '5-dodecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83058 1-linoleoyl-sn-glycero-3-phosphoethanolamine '1-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_1712 3alpha-hydroxy-5beta-pregnan-20-one '3alpha-hydroxy-5beta-pregnan-20-one' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35280 L-proline betaine 'L-proline betaine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_36659 3-(4-hydroxyphenyl)lactate '3-(4-hydroxyphenyl)lactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_25982 phenylacetylglutamine 'phenylacetylglutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_85533 trans-4-hydroxy-L-proline betaine 'trans-4-hydroxy-L-proline betaine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24606 homoarginine 'homoarginine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0007565 Multiple cafe-au-lait spots 'Multiple cafe-au-lait spots' SubClassOf 'Cafe-au-lait spot' http://purl.obolibrary.org/obo/CHEBI_73048 O-[(4Z)-decenoyl]carnitine 'O-[(4Z)-decenoyl]carnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73067 O-palmitoylcarnitine 'O-palmitoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_86387 3-methyladipate(2-) '3-methyladipate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73074 O-stearoylcarnitine 'O-stearoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73072 O-linoleoylcarnitine 'O-linoleoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_86392 4-guanidinobutanoate '4-guanidinobutanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24040 flavin adenine dinucleotide 'flavin adenine dinucleotide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_40992 N-acetyl-L-alanine 'N-acetyl-L-alanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0006610 Wide intermamillary distance 'Wide intermamillary distance' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_27992 trans-4-hydroxy-D-proline 'trans-4-hydroxy-D-proline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_88956 Pyro-L-glutaminyl-L-glutamine 'Pyro-L-glutaminyl-L-glutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73018 tiglylglycine 'tiglylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73017 O-isobutyrylcarnitine 'O-isobutyrylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74348 1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine '1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_73024 O-acetylcarnitine 'O-acetylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73026 2-methylbutyrylcarnitine '2-methylbutyrylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73025 O-isovalerylcarnitine 'O-isovalerylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73034 O-succinylcarnitine 'O-succinylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0005280 Depressed nasal bridge 'Depressed nasal bridge' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/CHEBI_73040 O-glutarylcarnitine 'O-glutarylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_62205 3-methylxanthine '3-methylxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27891 S-sulfo-L-cysteine 'S-sulfo-L-cysteine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_15891 taurine 'taurine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15963 ribitol 'ribitol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy 'Macular dystrophy' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CHEBI_27905 phenyl hydrogen sulfate 'phenyl hydrogen sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0007716 Intraocular melanoma 'Intraocular melanoma' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CHEBI_15901 5,6-dihydrouracil '5,6-dihydrouracil' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_75568 1-monolinolein '1-monolinolein' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0006487 Bowing of the long bones 'Bowing of the long bones' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/CHEBI_36261 taurodeoxycholate 'taurodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24297 glucuronate 'glucuronate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24265 gluconate 'gluconate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36252 glycochenodeoxycholate 'glycochenodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36257 taurocholate 'taurocholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36234 chenodeoxycholate 'chenodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_26986 threonine 'threonine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_36314 glycerophosphoethanolamine 'glycerophosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_25629 octadecanoate 'octadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_11009 (R)-3-phenyllactate '(R)-3-phenyllactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_25646 octanoate 'octanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_74534 Leu-Gly 'Leu-Gly' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_85210 N-acetyl-D-methionine 'N-acetyl-D-methionine' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0008998 acute synovitis 'acute synovitis' SubClassOf 'synovitis' http://purl.obolibrary.org/obo/CHEBI_50498 vaccenate(1-) 'vaccenate(1-)' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_295975 choline phosphate(1-) 'choline phosphate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36165 pimelate(2-) 'pimelate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36149 2-hydroxyglutarate(1-) '2-hydroxyglutarate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_62423 (2-hydroxyphenyl)acetate '(2-hydroxyphenyl)acetate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24148 galactonate 'galactonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36110 pipecolate 'pipecolate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_2596 alliin 'alliin' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_86468 dimethylarginine 'dimethylarginine' SubClassOf 'chemical entity'