From 8425e7e3008818b3c309057576cab663a5cacbc5 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 27 Dec 2023 11:07:44 +0100 Subject: [PATCH] wip --- src/server/actix_server/hpo_terms.rs | 41 +- ..._hpo_genes_gene_id_exact_no_hpo_terms.snap | 7 - ...po_genes_gene_id_exact_with_hpo_terms.snap | 18 - ...s_gene_symbol_contains_with_hpo_terms.snap | 2988 ----------------- ...enes_gene_symbol_exact_with_hpo_terms.snap | 189 -- ...nes_gene_symbol_prefix_with_hpo_terms.snap | 189 -- ...nes_gene_symbol_suffix_with_hpo_terms.snap | 189 -- ...nes_hgnc_gene_id_exact_with_hpo_terms.snap | 15 - ...nes_ncbi_gene_id_exact_with_hpo_terms.snap | 15 - ...est__hpo_omims_name_contains_no_genes.snap | 7 - ...t__hpo_omims_name_contains_with_genes.snap | 7 - ...po_omims_name_contains_with_hpo_terms.snap | 150 - ...__test__hpo_omims_name_exact_no_genes.snap | 7 - ...__hpo_omims_name_exact_with_hpo_terms.snap | 150 - ..._test__hpo_omims_name_prefix_no_genes.snap | 7 - ..._hpo_omims_name_prefix_with_hpo_terms.snap | 150 - ..._test__hpo_omims_name_suffix_no_genes.snap | 7 - ..._hpo_omims_name_suffix_with_hpo_terms.snap | 150 - ...po_omims_omim_id_exact_with_hpo_terms.snap | 150 - ...est__hpo_terms_name_contains_no_genes.snap | 17 - ...t__hpo_terms_name_contains_with_genes.snap | 894 ----- ...__test__hpo_terms_name_exact_no_genes.snap | 18 +- ...test__hpo_terms_name_exact_with_genes.snap | 73 +- ...__test__hpo_terms_name_fuzzy_no_genes.snap | 33 + ...est__hpo_terms_name_fuzzy_with_genes.snap} | 75 +- ..._test__hpo_terms_name_prefix_no_genes.snap | 17 - ..._test__hpo_terms_name_suffix_no_genes.snap | 17 - ...est__hpo_terms_name_suffix_with_genes.snap | 894 ----- ...est__hpo_terms_term_id_exact_no_genes.snap | 8 +- ...t__hpo_terms_term_id_exact_with_genes.snap | 8 +- 30 files changed, 217 insertions(+), 6273 deletions(-) delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_no_hpo_terms.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_with_hpo_terms.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_with_genes.snap create mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_no_genes.snap rename src/server/actix_server/snapshots/{viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_with_genes.snap => viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_with_genes.snap} (91%) delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_no_genes.snap delete mode 100644 src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_with_genes.snap diff --git a/src/server/actix_server/hpo_terms.rs b/src/server/actix_server/hpo_terms.rs index 812b79d..94c3828 100644 --- a/src/server/actix_server/hpo_terms.rs +++ b/src/server/actix_server/hpo_terms.rs @@ -124,7 +124,7 @@ impl ResultEntry { let query_parser = tantivy::query::QueryParser::for_index(index.index(), vec![field_term_id]); let query = query_parser - .parse_query(&format!("{}", term.id())) + .parse_query(&format!("\"{}\"", term.id())) .expect("bad term ID query"); let top_docs = searcher .search(&query, &tantivy::collector::TopDocs::with_limit(1)) @@ -273,6 +273,9 @@ async fn handle( ], ); query_parser.set_conjunction_by_default(); + query_parser.set_field_boost(field_name, 3.0); + query_parser.set_field_boost(field_synonym, 0.8); + query_parser.set_field_boost(field_def, 0.6); query_parser.set_field_fuzzy(field_name, true, 1, true); query_parser.set_field_fuzzy(field_def, true, 1, true); query_parser.set_field_fuzzy(field_synonym, true, 1, true); @@ -382,44 +385,16 @@ mod test { } #[actix_web::test] - async fn hpo_terms_name_prefix_no_genes() -> Result<(), anyhow::Error> { + async fn hpo_terms_name_fuzzy_no_genes() -> Result<(), anyhow::Error> { Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=Inguinal+hern&match=prefix").await? + &run_query("/hpo/terms?name=Inguinal+hern").await? )) } #[actix_web::test] - async fn hpo_terms_name_prefix_with_genes() -> Result<(), anyhow::Error> { + async fn hpo_terms_name_fuzzy_with_genes() -> Result<(), anyhow::Error> { Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=Inguinal+hern&match=prefix&genes=true").await? - )) - } - - #[actix_web::test] - async fn hpo_terms_name_suffix_no_genes() -> Result<(), anyhow::Error> { - Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=guinal+hernia&match=suffix").await? - )) - } - - #[actix_web::test] - async fn hpo_terms_name_suffix_with_genes() -> Result<(), anyhow::Error> { - Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=guinal+hernia&match=suffix&genes=true").await? - )) - } - - #[actix_web::test] - async fn hpo_terms_name_contains_no_genes() -> Result<(), anyhow::Error> { - Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=guinal+hern&match=contains").await? - )) - } - - #[actix_web::test] - async fn hpo_terms_name_contains_with_genes() -> Result<(), anyhow::Error> { - Ok(insta::assert_yaml_snapshot!( - &run_query("/hpo/terms?name=guinal+hern&match=contains&genes=true").await? + &run_query("/hpo/terms?name=Inguinal+hern&genes=true").await? )) } } diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_no_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_no_hpo_terms.snap deleted file mode 100644 index d92e1c5..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_no_hpo_terms.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_genes.rs -expression: "&run_query(\"/hpo/genes?gene_id=2348\").await?" ---- -- gene_ncbi_id: 2348 - gene_symbol: FOLR1 - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_with_hpo_terms.snap deleted file mode 100644 index 1ef9b92..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_id_exact_with_hpo_terms.snap +++ /dev/null @@ -1,18 +0,0 @@ ---- -source: src/server/actix_server/hpo_genes.rs -expression: "&run_query(\"/hpo/genes?gene_id=2348&hpo_terms=true\").await?" ---- -- gene_ncbi_id: 2348 - gene_symbol: FOLR1 - hpo_terms: - - term_id: "HP:0000007" - name: Autosomal recessive inheritance - - term_id: "HP:0001249" - name: Intellectual disability - - term_id: "HP:0001250" - name: Seizure - - term_id: "HP:0002180" - name: Neurodegeneration - - term_id: "HP:0002376" - name: Developmental regression - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_contains_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_contains_with_hpo_terms.snap index c67d073..9026baf 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_contains_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_contains_with_hpo_terms.snap @@ -18,5082 +18,2094 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000093" name: Proteinuria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000097" name: Focal segmental glomerulosclerosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000100" name: Nephrotic syndrome - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000407" name: Sensorineural hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000737" name: Irritability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001945" name: Fever - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001967" name: Diffuse mesangial sclerosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002027" name: Abdominal pain - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002315" name: Headache - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002586" name: Peritonitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003073" name: Hypoalbuminemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003623" name: Neonatal onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003678" name: Rapidly progressive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003774" name: Stage 5 chronic kidney disease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007430" name: Generalized edema - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011947" name: Respiratory tract infection - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012577" name: Thin glomerular basement membrane - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012579" name: Minimal change glomerulonephritis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031504" name: Foamy urine - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100539" name: Periorbital edema - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100704" name: Cerebral visual impairment - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 1421 gene_symbol: CRYGD hgnc_id: "HGNC:2411" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000482" name: Microcornea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000519" name: Developmental cataract - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000545" name: Myopia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000612" name: Iris coloboma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001131" name: Corneal dystrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007957" name: Corneal opacity - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2245 gene_symbol: FGD1 hgnc_id: "HGNC:3663" hpo_terms: - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000029" name: Testicular atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000049" name: Shawl scrotum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000144" name: Decreased fertility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000232" name: Everted lower lip vermilion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000286" name: Epicanthus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000289" name: Broad philtrum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000311" name: Round face - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000327" name: Hypoplasia of the maxilla - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000337" name: Broad forehead - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000343" name: Long philtrum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000349" name: "Widow's peak" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000368" name: "Low-set, posteriorly rotated ears" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000431" name: Wide nasal bridge - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000463" name: Anteverted nares - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000485" name: Megalocornea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000486" name: Strabismus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000494" name: Downslanted palpebral fissures - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000508" name: Ptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000540" name: Hypermetropia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000668" name: Hypodontia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000684" name: Delayed eruption of teeth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000823" name: Delayed puberty - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000974" name: Hyperextensible skin - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001156" name: Brachydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001169" name: Broad palm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001187" name: Hyperextensibility of the finger joints - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001256" name: "Intellectual disability, mild" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001419" name: X-linked recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001544" name: Prominent umbilicus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001635" name: Congestive heart failure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001763" name: Pes planus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001769" name: Broad foot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001773" name: Short foot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001883" name: Talipes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002055" name: Curved linear dimple below the lower lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002816" name: Genu recurvatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003196" name: Short nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003311" name: Hypoplasia of the odontoid process - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003318" name: Cervical spine hypermobility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003502" name: Mild short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004279" name: Short palm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005640" name: Abnormal vertebral segmentation and fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006101" name: Finger syndactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007018" name: Attention deficit hyperactivity disorder - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008232" name: Elevated circulating follicle stimulating hormone level - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008572" name: External ear malformation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008689" name: Bilateral cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009237" name: Short 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009466" name: Radial deviation of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009748" name: Large earlobe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011969" name: Elevated circulating luteinizing hormone level - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012774" name: Increased upper to lower segment ratio - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030680" name: Abnormality of cardiovascular system morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032277" name: Lozenge-shaped umbilicus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0040171" name: Decreased serum testosterone concentration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100543" name: Cognitive impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200055" name: Small hand - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2657 gene_symbol: GDF1 hgnc_id: "HGNC:4214" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000233" name: Thin vermilion border - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000268" name: Dolichocephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000337" name: Broad forehead - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001156" name: Brachydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001274" name: Agenesis of corpus callosum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001636" name: Tetralogy of Fallot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001642" name: Pulmonic stenosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001669" name: Transposition of the great arteries - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001674" name: Complete atrioventricular canal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001684" name: Secundum atrial septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001696" name: Situs inversus totalis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001719" name: Double outlet right ventricle - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001746" name: Asplenia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001748" name: Polysplenia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001750" name: Single ventricle - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002101" name: Abnormal lung lobation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004467" name: Preauricular pit - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004935" name: Pulmonary artery atresia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005105" name: Abnormal nasal morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005160" name: Total anomalous pulmonary venous return - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005304" name: Hypoplastic pulmonary veins - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009891" name: Underdeveloped supraorbital ridges - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011536" name: Right atrial isomerism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011565" name: Common atrium - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012020" name: Right aortic arch - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031565" name: Abdominal situs ambiguus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031834" name: Aortopulmonary collateral arteries - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032092" name: Left ventricular outflow tract obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2658 gene_symbol: GDF2 hgnc_id: "HGNC:4217" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000524" name: Conjunctival telangiectasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000646" name: Amblyopia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000787" name: Nephrolithiasis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000790" name: Hematuria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001048" name: Cavernous hemangioma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001081" name: Cholelithiasis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001082" name: Cholecystitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001342" name: Cerebral hemorrhage - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001394" name: Cirrhosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001399" name: Hepatic failure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001409" name: Portal hypertension - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001635" name: Congestive heart failure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001935" name: Microcytic anemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002040" name: Esophageal varix - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002076" name: Migraine - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002092" name: Pulmonary arterial hypertension - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002105" name: Hemoptysis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002138" name: Subarachnoid hemorrhage - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002204" name: Pulmonary embolism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002239" name: Gastrointestinal hemorrhage - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002326" name: Transient ischemic attack - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002910" name: Elevated hepatic transaminase - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004406" name: "Spontaneous, recurrent epistaxis" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004936" name: Venous thrombosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007420" name: Spontaneous hematomas - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007763" name: Retinal telangiectasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100585" name: Telangiectasia of the skin - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100761" name: Visceral angiomatosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100784" name: Peripheral arteriovenous fistula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200008" name: Intestinal polyposis - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2661 gene_symbol: GDF9 hgnc_id: "HGNC:4224" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000786" name: Primary amenorrhea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008214" name: Decreased serum estradiol - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008232" name: Elevated circulating follicle stimulating hormone level - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011462" name: Young adult onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011969" name: Elevated circulating luteinizing hormone level - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2664 gene_symbol: GDI1 hgnc_id: "HGNC:4226" hpo_terms: - term_id: "HP:0001256" name: "Intellectual disability, mild" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001328" name: Specific learning disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001423" name: X-linked dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002121" name: Generalized non-motor (absence) seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008936" name: Axial hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010864" name: "Intellectual disability, severe" - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 2668 gene_symbol: GDNF hgnc_id: "HGNC:4232" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000407" name: Sensorineural hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001252" name: Hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001531" name: Failure to thrive in infancy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001824" name: Weight loss - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002014" name: Diarrhea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002017" name: Nausea and vomiting - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002019" name: Constipation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002027" name: Abdominal pain - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002093" name: Respiratory insufficiency - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003005" name: Ganglioneuroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005214" name: Intestinal obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006747" name: Ganglioneuroblastoma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011285" name: Long-segment aganglionic megacolon - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011286" name: Total colonic aganglionosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100031" name: Neoplasm of the thyroid gland - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100543" name: Cognitive impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100806" name: Sepsis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200008" name: Intestinal polyposis - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 3081 gene_symbol: HGD hgnc_id: "HGNC:4892" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000024" name: Prostatitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000364" name: Hearing abnormality - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000366" name: Abnormality of the nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000504" name: Abnormality of vision - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000592" name: Blue sclerae - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000787" name: Nephrolithiasis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000822" name: Hypertension - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001386" name: Joint swelling - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001507" name: Growth abnormality - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001597" name: Abnormality of the nail - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001658" name: Myocardial infarction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001717" name: Coronary artery calcification - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002621" name: Atherosclerosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002758" name: Osteoarthritis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002808" name: Kyphosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002829" name: Arthralgia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002948" name: Vertebral fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003040" name: Arthropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003355" name: Aminoaciduria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003419" name: Low back pain - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003581" name: Adult onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004349" name: Reduced bone mineral density - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004380" name: Aortic valve calcification - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004382" name: Mitral valve calcification - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004690" name: Thickened Achilles tendon - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004942" name: Aortic aneurysm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005645" name: Intervertebral disk calcification - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006467" name: Limited shoulder movement - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007400" name: Irregular hyperpigmentation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007832" name: Pigmentation of the sclera - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008419" name: Intervertebral disc degeneration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008800" name: Limited hip movement - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010501" name: Limitation of knee mobility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012213" name: Decreased glomerular filtration rate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030764" name: Ochronosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0033666" name: Diminished physical functioning - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0033704" name: Elevated urinary homogentisic acid - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100550" name: Tendon rupture - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100593" name: Calcification of cartilage - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100773" name: Cartilage destruction - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 3248 gene_symbol: HPGD hgnc_id: "HGNC:5154" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000239" name: Large fontanelles - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000280" name: Coarse facial features - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000508" name: Ptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000771" name: Gynecomastia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000845" name: Elevated circulating growth hormone concentration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000890" name: Long clavicles - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000938" name: Osteopenia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000939" name: Osteoporosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000975" name: Hyperhidrosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000976" name: Eczematoid dermatitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000982" name: Palmoplantar keratoderma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001051" name: Seborrheic dermatitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001061" name: Acne - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001070" name: Mottled pigmentation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001386" name: Joint swelling - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001519" name: Disproportionate tall stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001582" name: Redundant skin - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001643" name: Patent ductus arteriosus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001744" name: Splenomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001795" name: Hyperconvex nail - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001805" name: Onychogryposis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001821" name: Broad nail - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001837" name: Broad toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001903" name: Anemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002024" name: Malabsorption - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002239" name: Gastrointestinal hemorrhage - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002240" name: Hepatomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002645" name: Wormian bones - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002653" name: Bone pain - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002684" name: Thickened calvaria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002754" name: Osteomyelitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002758" name: Osteoarthritis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002829" name: Arthralgia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002970" name: Genu varum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002992" name: Abnormality of tibia morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003040" name: Arthropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003103" name: Abnormal cortical bone morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003549" name: Abnormality of connective tissue - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004097" name: Deviation of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004398" name: Peptic ulcer - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005561" name: Abnormality of bone marrow cell morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005930" name: Abnormal epiphysis morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008069" name: Neoplasm of the skin - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008391" name: Dystrophic fingernails - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009771" name: Osteolytic defects of the phalanges of the hand - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010541" name: Cutis gyrata of scalp - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010720" name: Abnormal hair pattern - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010783" name: Erythema - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010829" name: Impaired temperature sensation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010885" name: Avascular necrosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011300" name: Broad fingertip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011304" name: Broad thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011362" name: Abnormal hair quantity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012203" name: Onychomycosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031284" name: Flushing - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100021" name: Cerebral palsy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100526" name: Neoplasm of the lung - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100759" name: Clubbing of fingers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100760" name: Clubbing of toes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200055" name: Small hand - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 4967 gene_symbol: OGDH hgnc_id: "HGNC:8124" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000238" name: Hydrocephalus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000750" name: Delayed speech and language development - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000816" name: Abnormality of Krebs cycle metabolism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001252" name: Hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001310" name: Dysmetria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001332" name: Dystonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001942" name: Metabolic acidosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002063" name: Rigidity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002066" name: Gait ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002069" name: Bilateral tonic-clonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002151" name: Increased serum lactate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002194" name: Delayed gross motor development - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002317" name: Unsteady gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002527" name: Falls - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003700" name: Generalized amyotrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003819" name: Death in childhood - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004902" name: Congenital lactic acidosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010286" name: Abnormal salivary gland morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012401" name: Abnormal urine alpha-ketoglutarate concentration - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 7358 gene_symbol: UGDH hgnc_id: "HGNC:12525" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000179" name: Thick lower lip vermilion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000252" name: Microcephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000286" name: Epicanthus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000307" name: Pointed chin - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000319" name: Smooth philtrum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000490" name: Deeply set eye - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000508" name: Ptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000581" name: Blepharophimosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000664" name: Synophrys - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001284" name: Areflexia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001290" name: Generalized hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001332" name: Dystonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001347" name: Hyperreflexia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001357" name: Plagiocephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002072" name: Chorea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002179" name: Opisthotonus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002188" name: Delayed CNS myelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002521" name: Hypsarrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003487" name: Babinski sign - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008936" name: Axial hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009748" name: Large earlobe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010851" name: EEG with burst suppression - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011097" name: Epileptic spasm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011344" name: Severe global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011471" name: Gastrostomy tube feeding in infancy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012745" name: Short palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0025336" name: Delayed ability to sit - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200134" name: Epileptic encephalopathy - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 8200 gene_symbol: GDF5 hgnc_id: "HGNC:4220" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000324" name: Facial asymmetry - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000405" name: Conductive hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000407" name: Sensorineural hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000445" name: Wide nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000446" name: Narrow nasal bridge - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000486" name: Strabismus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000668" name: Hypodontia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000684" name: Delayed eruption of teeth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001162" name: Postaxial hand polydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001204" name: Distal symphalangism of hands - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001230" name: Broad metacarpals - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001231" name: Abnormal fingernail morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001385" name: Hip dysplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001522" name: Death in infancy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001763" name: Pes planus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001772" name: Talipes equinovalgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001773" name: Short foot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001776" name: Bilateral talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001792" name: Small nail - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001822" name: Hallux valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002167" name: Abnormality of speech or vocalization - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002652" name: Skeletal dysplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002750" name: Delayed skeletal maturation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002827" name: Hip dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002948" name: Vertebral fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002983" name: Micromelia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002984" name: Hypoplasia of the radius - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002986" name: Radial bowing - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002990" name: Fibular aplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002999" name: Patellar dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003022" name: Hypoplasia of the ulna - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003028" name: Abnormality of the ankle - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003038" name: Fibular hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003041" name: Humeroradial synostosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003042" name: Elbow dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003067" name: Madelung deformity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003070" name: Elbow ankylosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003086" name: Acromesomelia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003826" name: Stillbirth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004220" name: Short middle phalanx of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004279" name: Short palm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004691" name: 2-3 toe syndactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005048" name: Synostosis of carpal bones - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005096" name: Distal femoral bowing - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005736" name: Short tibia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005880" name: Metacarpophalangeal synostosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006011" name: Cuboidal metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006014" name: Abnormally shaped carpal bones - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006092" name: Malaligned carpal bone - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006101" name: Finger syndactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006110" name: Shortening of all middle phalanges of the fingers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006143" name: Abnormal finger flexion crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006144" name: Shortening of all proximal phalanges of the fingers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006206" name: Hypersegmentation of proximal phalanx of second finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006228" name: Valgus hand deformity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006498" name: Aplasia/Hypoplasia of the patella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007598" name: Bilateral single transverse palmar creases - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008081" name: Pes valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008096" name: Medially deviated second toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008119" name: Deformed tarsal bones - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008368" name: Tarsal synostosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008843" name: Hip osteoarthritis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008890" name: Severe short-limb dwarfism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008905" name: Rhizomelia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009177" name: Proximal/middle symphalangism of 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009182" name: Triangular shaped middle phalanx of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009295" name: Short middle phalanx of the 4th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009324" name: Enlarged epiphysis of the middle phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009331" name: Triangular epiphysis of the middle phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009349" name: Enlarged epiphysis of the proximal phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009356" name: Triangular epiphysis of the proximal phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009372" name: Type A2 brachydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009373" name: Type C brachydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009417" name: Pseudoepiphyses of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009436" name: Triangular shaped middle phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009439" name: Short middle phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009456" name: Triangular shaped proximal phalanx of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009463" name: Ulnar deviation of the 3rd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009467" name: Radial deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009495" name: Pseudoepiphysis of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009516" name: Enlarged epiphysis of the middle phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009523" name: Triangular epiphysis of the middle phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009527" name: Enlarged epiphysis of the proximal phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009534" name: Triangular epiphysis of the proximal phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009575" name: Triangular shaped middle phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009577" name: Short middle phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009587" name: Triangular shaped proximal phalanx of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009606" name: Complete duplication of distal phalanx of the thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009684" name: Stippling of the epiphysis of the distal phalanx of the thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009882" name: Short distal phalanx of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010034" name: Short 1st metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010038" name: Short 2nd metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010055" name: Broad hallux - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010109" name: Short hallux - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010259" name: Cone-shaped epiphyses of the middle phalanges of the hand - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010508" name: Metatarsus valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010624" name: Aplastic/hypoplastic toenail - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010743" name: Short metatarsal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011304" name: Broad thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011929" name: Hypersegmentation of proximal phalanx of third finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032078" name: Angel-shaped phalanx - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100242" name: Sarcoma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100387" name: Aplasia of the middle phalanges of the toes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100543" name: Cognitive impairment - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 9573 gene_symbol: GDF3 hgnc_id: "HGNC:4218" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000324" name: Facial asymmetry - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000365" name: Hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000465" name: Webbed neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000505" name: Visual impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000567" name: Chorioretinal coloboma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000612" name: Iris coloboma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000772" name: Abnormal rib morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000912" name: Sprengel anomaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001291" name: Abnormal cranial nerve morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002023" name: Anal atresia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002162" name: Low posterior hairline - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002414" name: Spina bifida - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002943" name: Thoracic scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003043" name: Abnormal shoulder morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004374" name: Hemiplegia/hemiparesis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004397" name: Ectopic anus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004602" name: Cervical C2/C3 vertebral fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004635" name: Cervical C5/C6 vertebrae fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005107" name: Abnormal sacrum morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005640" name: Abnormal vertebral segmentation and fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005988" name: Congenital muscular torticollis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007633" name: Bilateral microphthalmos - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007750" name: Hypoplasia of the fovea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007766" name: Optic disc hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008678" name: Renal hypoplasia/aplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009911" name: Abnormal temporal bone morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010984" name: Digenic inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030281" name: Cervical C3/C4 vertebral fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100543" name: Cognitive impairment - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 10220 gene_symbol: GDF11 hgnc_id: "HGNC:4216" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000176" name: Submucous cleft hard palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000269" name: Prominent occiput - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000286" name: Epicanthus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000349" name: "Widow's peak" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000391" name: Thickened helices - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000463" name: Anteverted nares - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000592" name: Blue sclerae - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001382" name: Joint hypermobility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001763" name: Pes planus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002558" name: Supernumerary nipple - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003691" name: Scapular winging - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005815" name: Supernumerary ribs - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008416" name: Six lumbar vertebrae - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011261" name: Darwin tubercle of helix - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011800" name: Midface retrusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100333" name: Unilateral cleft lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100334" name: Unilateral cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 23483 gene_symbol: TGDS hgnc_id: "HGNC:20324" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000272" name: Malar flattening - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000368" name: "Low-set, posteriorly rotated ears" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000389" name: Chronic otitis media - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001631" name: Atrial septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002553" name: Highly arched eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005930" name: Abnormal epiphysis morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009467" name: Radial deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010285" name: Oral synechia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010508" name: Metatarsus valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 26227 gene_symbol: PHGDH hgnc_id: "HGNC:8923" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000104" name: Renal agenesis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000135" name: Hypogonadism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000136" name: Bifid uterus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000179" name: Thick lower lip vermilion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000340" name: Sloping forehead - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000400" name: Macrotia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000445" name: Wide nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000457" name: Depressed nasal ridge - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000475" name: Broad neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000519" name: Developmental cataract - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000561" name: Absent eyelashes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000565" name: Esotropia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000568" name: Microphthalmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000737" name: Irritability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001059" name: Pterygium - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001196" name: Short umbilical cord - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001274" name: Agenesis of corpus callosum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001305" name: Dandy-Walker malformation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001339" name: Lissencephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001561" name: Polyhydramnios - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001643" name: Patent ductus arteriosus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001655" name: Patent foramen ovale - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001669" name: Transposition of the great arteries - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001770" name: Toe syndactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001838" name: Rocker bottom foot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001848" name: Calcaneovalgus deformity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001873" name: Thrombocytopenia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001889" name: Megaloblastic anemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001989" name: Fetal akinesia sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001999" name: Abnormal facial shape - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002013" name: Vomiting - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002020" name: Gastroesophageal reflux - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002069" name: Bilateral tonic-clonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002079" name: Hypoplasia of the corpus callosum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002089" name: Pulmonary hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002121" name: Generalized non-motor (absence) seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002123" name: Generalized myoclonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002190" name: Choroid plexus cyst - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002305" name: Athetosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002324" name: Hydranencephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002414" name: Spina bifida - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002510" name: Spastic tetraplegia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002521" name: Hypsarrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002983" name: Micromelia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003811" name: Neonatal death - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003826" name: Stillbirth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006101" name: Finger syndactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006266" name: Small placenta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006808" name: Cerebral hypomyelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006872" name: Cerebral hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007266" name: Cerebral dysmyelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007281" name: Developmental stagnation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007430" name: Generalized edema - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007503" name: Generalized ichthyosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007525" name: "Yellow subcutaneous tissue covered by thin, scaly skin" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008734" name: Decreased testicular size - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009466" name: Radial deviation of finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009473" name: Joint contracture of the hand - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010719" name: Abnormality of hair texture - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010819" name: Atonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010821" name: Focal emotional seizure with laughing - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011097" name: Epileptic spasm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011224" name: Ablepharon - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011343" name: Moderate global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011344" name: Severe global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011451" name: Primary microcephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011968" name: Feeding difficulties - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012277" name: Hypoglycinemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012279" name: Hyposerinemia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012444" name: Brain atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012448" name: Delayed myelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012762" name: Cerebral white matter atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030084" name: Clinodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030215" name: Inappropriate crying - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031244" name: Swollen lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0034691" name: Reduced 3-phosphoglycerate dehydrogenase activity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100633" name: Esophagitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100704" name: Cerebral visual impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100807" name: Long fingers - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 29958 gene_symbol: DMGDH hgnc_id: "HGNC:24475" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003236" name: Elevated circulating creatine kinase concentration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003750" name: Increased muscle fatiguability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012379" name: Abnormal circulating enzyme concentration or activity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031945" name: "Elevated circulating N,N-dimethylglycine concentration" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031946" name: "Elevated urinary N,N-dimethylglycine level" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0410020" name: Fish odor - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 54332 gene_symbol: GDAP1 hgnc_id: "HGNC:15968" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000765" name: Abnormal thorax morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001171" name: Split hand - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001178" name: Ulnar claw - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001270" name: Motor delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001284" name: Areflexia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001604" name: Vocal cord paresis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001609" name: Hoarse voice - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001761" name: Pes cavus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001765" name: Hammertoe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001776" name: Bilateral talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002091" name: Restrictive ventilatory defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002317" name: Unsteady gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002359" name: Frequent falls - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002505" name: Loss of ambulation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002751" name: Kyphoscoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003376" name: Steppage gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003378" name: Axonal degeneration/regeneration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003382" name: Hypertrophic nerve changes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003387" name: Decreased number of large peripheral myelinated nerve fibers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003400" name: Basal lamina onion bulb formation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003429" name: CNS hypomyelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003431" name: Decreased motor nerve conduction velocity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003445" name: "EMG: neuropathic changes" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003447" name: Axonal loss - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003448" name: Decreased sensory nerve conduction velocity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003547" name: Shoulder girdle muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003678" name: Rapidly progressive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003731" name: Quadriceps muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006064" name: Limited interphalangeal movement - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006248" name: Limited wrist movement - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006858" name: Impaired distal proprioception - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006886" name: Impaired distal vibration sensation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006915" name: Inability to walk by childhood/adolescence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006937" name: Impaired distal tactile sensation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007010" name: Poor fine motor coordination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007015" name: Poor gross motor coordination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007107" name: Segmental peripheral demyelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007108" name: Demyelinating peripheral neuropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007141" name: Sensorimotor neuropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007230" name: Decreased distal sensory nerve action potential - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007233" name: Clusters of axonal regeneration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007249" name: Decreased number of small peripheral myelinated nerve fibers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007267" name: Chronic axonal neuropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007328" name: Impaired pain sensation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008443" name: Neuropathic spinal arthropathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008935" name: Generalized neonatal hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008954" name: Intrinsic hand muscle atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008959" name: Distal upper limb muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008997" name: Proximal muscle weakness in upper limbs - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009027" name: Foot dorsiflexor weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009072" name: Decreased Achilles reflex - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009109" name: Denervation of the diaphragm - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009473" name: Joint contracture of the hand - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011463" name: Childhood onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011675" name: Arrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011727" name: Peroneal muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012078" name: Motor conduction block - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012391" name: Hyporeflexia of upper limbs - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030237" name: Hand muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030319" name: Weakness of facial musculature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031629" name: Impaired tandem gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0040078" name: Axonal degeneration - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 54834 gene_symbol: GDAP2 hgnc_id: "HGNC:18010" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000473" name: Torticollis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000640" name: Gaze-evoked nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000716" name: Depression - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000718" name: Aggressive behavior - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000741" name: Apathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001257" name: Spasticity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001260" name: Dysarthria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001268" name: Mental deterioration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001272" name: Cerebellar atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001348" name: Brisk reflexes - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002015" name: Dysphagia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002066" name: Gait ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002120" name: Cerebral cortical atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002141" name: Gait imbalance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002171" name: Gliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002359" name: Frequent falls - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002497" name: Spastic ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003677" name: Slowly progressive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006895" name: Lower limb hypertonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007338" name: Hypermetric saccades - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008003" name: Jerky ocular pursuit movements - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0025710" name: Late young adult onset - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 55753 gene_symbol: OGDHL hgnc_id: "HGNC:25590" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000252" name: Microcephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000338" name: Hypomimic face - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000365" name: Hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000494" name: Downslanted palpebral fissures - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000505" name: Visual impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000648" name: Optic atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001251" name: Ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001257" name: Spasticity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001385" name: Hip dysplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001488" name: Bilateral ptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001761" name: Pes cavus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002059" name: Cerebral atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002069" name: Bilateral tonic-clonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002079" name: Hypoplasia of the corpus callosum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002133" name: Status epilepticus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002521" name: Hypsarrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002540" name: Inability to walk - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003621" name: Juvenile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006970" name: Periventricular leukomalacia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011170" name: Generalized myoclonic-atonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011344" name: Severe global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012469" name: Infantile spasms - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030799" name: Scaphocephaly - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 79641 gene_symbol: ROGDI hgnc_id: "HGNC:29478" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000238" name: Hydrocephalus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000252" name: Microcephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000705" name: Amelogenesis imperfecta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000726" name: Dementia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000750" name: Delayed speech and language development - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000966" name: Hypohidrosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001251" name: Ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001257" name: Spasticity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001321" name: Cerebellar hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002059" name: Cerebral atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002069" name: Bilateral tonic-clonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002376" name: Developmental regression - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002521" name: Hypsarrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006286" name: Yellow-brown discoloration of the teeth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006297" name: Enamel hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007359" name: Focal-onset seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010864" name: "Intellectual disability, severe" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0031936" name: Delayed ability to walk - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032794" name: Myoclonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0200134" name: Epileptic encephalopathy - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 79944 gene_symbol: L2HGDH hgnc_id: "HGNC:20499" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000256" name: Macrocephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000365" name: Hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000486" name: Strabismus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000648" name: Optic atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000708" name: Atypical behavior - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001251" name: Ataxia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001252" name: Hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001272" name: Cerebellar atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001285" name: Spastic tetraparesis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002062" name: Morphological abnormality of the pyramidal tract - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002071" name: Abnormality of extrapyramidal motor function - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002171" name: Gliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002283" name: Global brain atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002352" name: Leukoencephalopathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002376" name: Developmental regression - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002381" name: Aphasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002383" name: Infectious encephalitis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004375" name: Neoplasm of the nervous system - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006887" name: "Intellectual disability, progressive" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007256" name: Abnormal pyramidal sign - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007258" name: Severe demyelination of the white matter - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007360" name: Aplasia/Hypoplasia of the cerebellum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007371" name: Corpus callosum atrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010864" name: "Intellectual disability, severe" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0040144" name: L-2-hydroxyglutaric aciduria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0040147" name: L-2-hydroxyglutaric acidemia - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 121512 gene_symbol: FGD4 hgnc_id: "HGNC:19125" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001245" name: Small thenar eminence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001265" name: Hyporeflexia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001270" name: Motor delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001284" name: Areflexia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001761" name: Pes cavus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002317" name: Unsteady gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002515" name: Waddling gait - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002936" name: Distal sensory impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003380" name: Decreased number of peripheral myelinated nerve fibers - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003383" name: Onion bulb formation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003431" name: Decreased motor nerve conduction velocity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003484" name: Upper limb muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007182" name: Peripheral hypomyelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008944" name: Distal lower limb amyotrophy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009053" name: Distal lower limb muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010487" name: Small hypothenar eminence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011463" name: Childhood onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0033748" name: Hypoesthesia - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 392255 gene_symbol: GDF6 hgnc_id: "HGNC:4221" hpo_terms: - term_id: "HP:0000006" name: Autosomal dominant inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000122" name: Unilateral renal agenesis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000324" name: Facial asymmetry - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000362" name: Otosclerosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000410" name: Mixed hearing impairment - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000465" name: Webbed neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000466" name: Limited neck range of motion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000512" name: Abnormal electroretinogram - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000518" name: Cataract - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000563" name: Keratoconus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000589" name: Coloboma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000639" name: Nystagmus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000772" name: Abnormal rib morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000912" name: Sprengel anomaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001141" name: Severely reduced visual acuity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001156" name: Brachydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001252" name: Hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001291" name: Abnormal cranial nerve morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001335" name: Bimanual synkinesia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001763" name: Pes planus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001769" name: Broad foot - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001845" name: Overlapping toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002023" name: Anal atresia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002084" name: Encephalocele - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002162" name: Low posterior hairline - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002269" name: Abnormality of neuronal migration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002414" name: Spina bifida - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003043" name: Abnormal shoulder morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004374" name: Hemiplegia/hemiparesis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004397" name: Ectopic anus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004602" name: Cervical C2/C3 vertebral fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005107" name: Abnormal sacrum morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005640" name: Abnormal vertebral segmentation and fusion - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005988" name: Congenital muscular torticollis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006817" name: Aplasia/Hypoplasia of the cerebellar vermis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007291" name: Posterior fossa cyst - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007633" name: Bilateral microphthalmos - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007703" name: Abnormality of retinal pigmentation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007750" name: Hypoplasia of the fovea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007766" name: Optic disc hypoplasia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008368" name: Tarsal synostosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009911" name: Abnormal temporal bone morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010469" name: Absent testis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010984" name: Digenic inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012795" name: Abnormal optic disc morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030325" name: Cervicomedullary schisis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032284" name: Ultra-low vision with retained motion projection - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100259" name: Postaxial polydactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100543" name: Cognitive impairment - synonyms: ~ - definition: ~ - xrefs: ~ - gene_ncbi_id: 728294 gene_symbol: D2HGDH hgnc_id: "HGNC:28358" hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000256" name: Macrocephaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001252" name: Hypotonia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001324" name: Muscle weakness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001638" name: Cardiomyopathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001659" name: Aortic regurgitation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002007" name: Frontal bossing - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002069" name: Bilateral tonic-clonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002104" name: Apnea - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002188" name: Delayed CNS myelination - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002416" name: Subependymal cysts - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002521" name: Hypsarrhythmia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002572" name: Episodic vomiting - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003150" name: Glutaric aciduria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003593" name: Infantile onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005348" name: Inspiratory stridor - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0006956" name: Lateral ventricle dilatation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007052" name: Multifocal cerebral white matter abnormalities - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0007105" name: Infantile encephalopathy - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0011220" name: Prominent forehead - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012321" name: D-2-hydroxyglutaric aciduria - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012469" name: Infantile spasms - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032792" name: Tonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0032794" name: Myoclonic seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100704" name: Cerebral visual impairment - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_exact_with_hpo_terms.snap index e8d8b66..540e7ff 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_exact_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_exact_with_hpo_terms.snap @@ -18,317 +18,128 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000272" name: Malar flattening - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000368" name: "Low-set, posteriorly rotated ears" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000389" name: Chronic otitis media - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001631" name: Atrial septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002553" name: Highly arched eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005930" name: Abnormal epiphysis morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009467" name: Radial deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010285" name: Oral synechia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010508" name: Metatarsus valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_prefix_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_prefix_with_hpo_terms.snap index 4e31490..67cf9ac 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_prefix_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_prefix_with_hpo_terms.snap @@ -18,317 +18,128 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000272" name: Malar flattening - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000368" name: "Low-set, posteriorly rotated ears" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000389" name: Chronic otitis media - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001631" name: Atrial septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002553" name: Highly arched eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005930" name: Abnormal epiphysis morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009467" name: Radial deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010285" name: Oral synechia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010508" name: Metatarsus valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_suffix_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_suffix_with_hpo_terms.snap index 7db3318..148f0fe 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_suffix_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_gene_symbol_suffix_with_hpo_terms.snap @@ -18,317 +18,128 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000272" name: Malar flattening - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000368" name: "Low-set, posteriorly rotated ears" - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000389" name: Chronic otitis media - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001387" name: Joint stiffness - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001508" name: Failure to thrive - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001631" name: Atrial septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002119" name: Ventriculomegaly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002553" name: Highly arched eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004322" name: Short stature - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005692" name: Joint hyperflexibility - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005930" name: Abnormal epiphysis morphology - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009467" name: Radial deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010285" name: Oral synechia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010508" name: Metatarsus valgus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0100490" name: Camptodactyly of finger - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_hgnc_gene_id_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_hgnc_gene_id_exact_with_hpo_terms.snap index d5d1a7f..9f613e9 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_hgnc_gene_id_exact_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_hgnc_gene_id_exact_with_hpo_terms.snap @@ -18,27 +18,12 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002180" name: Neurodegeneration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002376" name: Developmental regression - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_ncbi_gene_id_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_ncbi_gene_id_exact_with_hpo_terms.snap index 0bb524f..fda3fe1 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_ncbi_gene_id_exact_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_genes__test__hpo_genes_ncbi_gene_id_exact_with_hpo_terms.snap @@ -18,27 +18,12 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001249" name: Intellectual disability - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002180" name: Neurodegeneration - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002376" name: Developmental regression - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_no_genes.snap deleted file mode 100644 index 9631ba1..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_no_genes.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_omims.rs -expression: "&run_query(\"/hpo/omims?name=tel-Manzke+syndro&match=contains\").await?" ---- -- omim_id: "OMIM:616145" - name: Catel-Manzke syndrome - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_genes.snap deleted file mode 100644 index 957a42f..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_genes.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_omims.rs -expression: "&run_query(\"/hpo/omims?name=tel-Manzke+syndro&match=contains&genes=true\").await?" ---- -- omim_id: "OMIM:616145" - name: Catel-Manzke syndrome - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_hpo_terms.snap index 0e00349..2d7651e 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_contains_with_hpo_terms.snap @@ -17,252 +17,102 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_no_genes.snap deleted file mode 100644 index 044251c..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_no_genes.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_omims.rs -expression: "&run_query(\"/hpo/omims?name=Catel-Manzke+syndrome\").await?" ---- -- omim_id: "OMIM:616145" - name: Catel-Manzke syndrome - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_with_hpo_terms.snap index c56f79a..006520f 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_exact_with_hpo_terms.snap @@ -17,252 +17,102 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_no_genes.snap deleted file mode 100644 index ba3f4d2..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_no_genes.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_omims.rs -expression: "&run_query(\"/hpo/omims?name=Catel-Manzke+syndro&match=prefix\").await?" ---- -- omim_id: "OMIM:616145" - name: Catel-Manzke syndrome - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_with_hpo_terms.snap index 2b0a7d1..9684c28 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_prefix_with_hpo_terms.snap @@ -17,252 +17,102 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_no_genes.snap deleted file mode 100644 index 928802f..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_no_genes.snap +++ /dev/null @@ -1,7 +0,0 @@ ---- -source: src/server/actix_server/hpo_omims.rs -expression: "&run_query(\"/hpo/omims?name=tel-Manzke+syndrome&match=suffix\").await?" ---- -- omim_id: "OMIM:616145" - name: Catel-Manzke syndrome - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_with_hpo_terms.snap index 145af4e..37727be 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_name_suffix_with_hpo_terms.snap @@ -17,252 +17,102 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_omim_id_exact_with_hpo_terms.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_omim_id_exact_with_hpo_terms.snap index e94d1aa..2f7cc4a 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_omim_id_exact_with_hpo_terms.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_omims__test__hpo_omims_omim_id_exact_with_hpo_terms.snap @@ -17,252 +17,102 @@ result: hpo_terms: - term_id: "HP:0000007" name: Autosomal recessive inheritance - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000023" name: Inguinal hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000028" name: Cryptorchidism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000160" name: Narrow mouth - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000162" name: Glossoptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000175" name: Cleft palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000193" name: Bifid uvula - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000201" name: Pierre-Robin sequence - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000204" name: Cleft upper lip - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000218" name: High palate - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000293" name: Full cheeks - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000316" name: Hypertelorism - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000347" name: Micrognathia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000369" name: Low-set ears - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000460" name: Narrow nose - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000470" name: Short neck - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000476" name: Cystic hygroma - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000520" name: Proptosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000579" name: Nasolacrimal duct obstruction - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000582" name: Upslanted palpebral fissure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000767" name: Pectus excavatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000768" name: Pectus carinatum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0000954" name: Single transverse palmar crease - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001181" name: Adducted thumb - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001250" name: Seizure - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001263" name: Global developmental delay - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001373" name: Joint dislocation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001388" name: Joint laxity - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001511" name: Intrauterine growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001537" name: Umbilical hernia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001629" name: Ventricular septal defect - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001651" name: Dextrocardia - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001680" name: Coarctation of aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001762" name: Talipes equinovarus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0001831" name: Short toe - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002623" name: Overriding aorta - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002650" name: Scoliosis - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0002857" name: Genu valgum - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003097" name: Short femur - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0003577" name: Congenital onset - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0004209" name: Clinodactyly of the 5th finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0005792" name: Short humerus - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0008897" name: Postnatal growth retardation - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009464" name: Ulnar deviation of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0009933" name: Narrow naris - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010049" name: Short metacarpal - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0010763" name: Low insertion of columella - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0012385" name: Camptodactyly - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0030368" name: Hyperphalangy of the 2nd finger - synonyms: ~ - definition: ~ - xrefs: ~ - term_id: "HP:0045074" name: Thin eyebrow - synonyms: ~ - definition: ~ - xrefs: ~ diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_no_genes.snap deleted file mode 100644 index 207e668..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_no_genes.snap +++ /dev/null @@ -1,17 +0,0 @@ ---- -source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=guinal+hern&match=contains\").await?" ---- -version: - hpo: 2023-04-05 - viguno: 0.0.0 -query: - term_id: ~ - name: guinal hern - match_: contains - max_results: 100 - genes: false -result: - - term_id: "HP:0000023" - name: Inguinal hernia - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_with_genes.snap deleted file mode 100644 index b10f3ea..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_contains_with_genes.snap +++ /dev/null @@ -1,894 +0,0 @@ ---- -source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=guinal+hern&match=contains&genes=true\").await?" ---- -version: - hpo: 2023-04-05 - viguno: 0.0.0 -query: - term_id: ~ - name: guinal hern - match_: contains - max_results: 100 - genes: true -result: - - term_id: "HP:0000023" - name: Inguinal hernia - genes: - - ncbi_gene_id: 59 - gene_symbol: ACTA2 - hgnc_id: "HGNC:130" - - ncbi_gene_id: 165 - gene_symbol: AEBP1 - hgnc_id: "HGNC:303" - - ncbi_gene_id: 175 - gene_symbol: AGA - hgnc_id: "HGNC:318" - - ncbi_gene_id: 268 - gene_symbol: AMH - hgnc_id: "HGNC:464" - - ncbi_gene_id: 269 - gene_symbol: AMHR2 - hgnc_id: "HGNC:465" - - ncbi_gene_id: 367 - gene_symbol: AR - hgnc_id: "HGNC:644" - - ncbi_gene_id: 411 - gene_symbol: ARSB - hgnc_id: "HGNC:714" - - ncbi_gene_id: 421 - gene_symbol: ARVCF - hgnc_id: "HGNC:728" - - ncbi_gene_id: 477 - gene_symbol: ATP1A2 - hgnc_id: "HGNC:800" - - ncbi_gene_id: 523 - gene_symbol: ATP6V1A - hgnc_id: "HGNC:851" - - ncbi_gene_id: 529 - gene_symbol: ATP6V1E1 - hgnc_id: "HGNC:857" - - ncbi_gene_id: 538 - gene_symbol: ATP7A - hgnc_id: "HGNC:869" - - ncbi_gene_id: 613 - gene_symbol: BCR - hgnc_id: "HGNC:1014" - - ncbi_gene_id: 699 - gene_symbol: BUB1 - hgnc_id: "HGNC:1148" - - ncbi_gene_id: 715 - gene_symbol: C1R - hgnc_id: "HGNC:1246" - - ncbi_gene_id: 716 - gene_symbol: C1S - hgnc_id: "HGNC:1247" - - ncbi_gene_id: 871 - gene_symbol: SERPINH1 - hgnc_id: "HGNC:1546" - - ncbi_gene_id: 875 - gene_symbol: CBS - hgnc_id: "HGNC:1550" - - ncbi_gene_id: 998 - gene_symbol: CDC42 - hgnc_id: "HGNC:1736" - - ncbi_gene_id: 1028 - gene_symbol: CDKN1C - hgnc_id: "HGNC:1786" - - ncbi_gene_id: 1107 - gene_symbol: CHD3 - hgnc_id: "HGNC:1918" - - ncbi_gene_id: 1146 - gene_symbol: CHRNG - hgnc_id: "HGNC:1967" - - ncbi_gene_id: 1183 - gene_symbol: CLCN4 - hgnc_id: "HGNC:2022" - - ncbi_gene_id: 1277 - gene_symbol: COL1A1 - hgnc_id: "HGNC:2197" - - ncbi_gene_id: 1278 - gene_symbol: COL1A2 - hgnc_id: "HGNC:2198" - - ncbi_gene_id: 1280 - gene_symbol: COL2A1 - hgnc_id: "HGNC:2200" - - ncbi_gene_id: 1281 - gene_symbol: COL3A1 - hgnc_id: "HGNC:2201" - - ncbi_gene_id: 1289 - gene_symbol: COL5A1 - hgnc_id: "HGNC:2209" - - ncbi_gene_id: 1290 - gene_symbol: COL5A2 - hgnc_id: "HGNC:2210" - - ncbi_gene_id: 1312 - gene_symbol: COMT - hgnc_id: "HGNC:2228" - - ncbi_gene_id: 1387 - gene_symbol: CREBBP - hgnc_id: "HGNC:2348" - - ncbi_gene_id: 1399 - gene_symbol: CRKL - hgnc_id: "HGNC:2363" - - ncbi_gene_id: 1457 - gene_symbol: CSNK2A1 - hgnc_id: "HGNC:2457" - - ncbi_gene_id: 1501 - gene_symbol: CTNND2 - hgnc_id: "HGNC:2516" - - ncbi_gene_id: 1656 - gene_symbol: DDX6 - hgnc_id: "HGNC:2747" - - ncbi_gene_id: 1801 - gene_symbol: DPH1 - hgnc_id: "HGNC:3003" - - ncbi_gene_id: 1836 - gene_symbol: SLC26A2 - hgnc_id: "HGNC:10994" - - ncbi_gene_id: 1855 - gene_symbol: DVL1 - hgnc_id: "HGNC:3084" - - ncbi_gene_id: 1857 - gene_symbol: DVL3 - hgnc_id: "HGNC:3087" - - ncbi_gene_id: 1859 - gene_symbol: DYRK1A - hgnc_id: "HGNC:3091" - - ncbi_gene_id: 1861 - gene_symbol: TOR1A - hgnc_id: "HGNC:3098" - - ncbi_gene_id: 2006 - gene_symbol: ELN - hgnc_id: "HGNC:3327" - - ncbi_gene_id: 2146 - gene_symbol: EZH2 - hgnc_id: "HGNC:3527" - - ncbi_gene_id: 2187 - gene_symbol: FANCB - hgnc_id: "HGNC:3583" - - ncbi_gene_id: 2200 - gene_symbol: FBN1 - hgnc_id: "HGNC:3603" - - ncbi_gene_id: 2239 - gene_symbol: GPC4 - hgnc_id: "HGNC:4452" - - ncbi_gene_id: 2245 - gene_symbol: FGD1 - hgnc_id: "HGNC:3663" - - ncbi_gene_id: 2260 - gene_symbol: FGFR1 - hgnc_id: "HGNC:3688" - - ncbi_gene_id: 2301 - gene_symbol: FOXE3 - hgnc_id: "HGNC:3808" - - ncbi_gene_id: 2313 - gene_symbol: FLI1 - hgnc_id: "HGNC:3749" - - ncbi_gene_id: 2316 - gene_symbol: FLNA - hgnc_id: "HGNC:3754" - - ncbi_gene_id: 2317 - gene_symbol: FLNB - hgnc_id: "HGNC:3755" - - ncbi_gene_id: 2535 - gene_symbol: FZD2 - hgnc_id: "HGNC:4040" - - ncbi_gene_id: 2542 - gene_symbol: SLC37A4 - hgnc_id: "HGNC:4061" - - ncbi_gene_id: 2588 - gene_symbol: GALNS - hgnc_id: "HGNC:4122" - - ncbi_gene_id: 2626 - gene_symbol: GATA4 - hgnc_id: "HGNC:4173" - - ncbi_gene_id: 2627 - gene_symbol: GATA6 - hgnc_id: "HGNC:4174" - - ncbi_gene_id: 2657 - gene_symbol: GDF1 - hgnc_id: "HGNC:4214" - - ncbi_gene_id: 2719 - gene_symbol: GPC3 - hgnc_id: "HGNC:4451" - - ncbi_gene_id: 2720 - gene_symbol: GLB1 - hgnc_id: "HGNC:4298" - - ncbi_gene_id: 2737 - gene_symbol: GLI3 - hgnc_id: "HGNC:4319" - 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gene_symbol: KDM3B - hgnc_id: "HGNC:1337" - - ncbi_gene_id: 54101 - gene_symbol: RIPK4 - hgnc_id: "HGNC:496" - - ncbi_gene_id: 54487 - gene_symbol: DGCR8 - hgnc_id: "HGNC:2847" - - ncbi_gene_id: 54499 - gene_symbol: TMCO1 - hgnc_id: "HGNC:18188" - - ncbi_gene_id: 54914 - gene_symbol: FOCAD - hgnc_id: "HGNC:23377" - - ncbi_gene_id: 54968 - gene_symbol: TMEM70 - hgnc_id: "HGNC:26050" - - ncbi_gene_id: 55033 - gene_symbol: FKBP14 - hgnc_id: "HGNC:18625" - - ncbi_gene_id: 55384 - gene_symbol: MEG3 - hgnc_id: "HGNC:14575" - - ncbi_gene_id: 55503 - gene_symbol: TRPV6 - hgnc_id: "HGNC:14006" - - ncbi_gene_id: 55617 - gene_symbol: TASP1 - hgnc_id: "HGNC:15859" - - ncbi_gene_id: 55690 - gene_symbol: PACS1 - hgnc_id: "HGNC:30032" - - ncbi_gene_id: 55764 - gene_symbol: IFT122 - hgnc_id: "HGNC:13556" - - ncbi_gene_id: 56623 - gene_symbol: INPP5E - hgnc_id: "HGNC:21474" - - ncbi_gene_id: 57492 - gene_symbol: ARID1B - hgnc_id: "HGNC:18040" - - ncbi_gene_id: 57539 - gene_symbol: WDR35 - hgnc_id: "HGNC:29250" - - ncbi_gene_id: 57545 - gene_symbol: CC2D2A - hgnc_id: "HGNC:29253" - - ncbi_gene_id: 57589 - gene_symbol: RIC1 - hgnc_id: "HGNC:17686" - - ncbi_gene_id: 57728 - gene_symbol: WDR19 - hgnc_id: "HGNC:18340" - - ncbi_gene_id: 58508 - gene_symbol: KMT2C - hgnc_id: "HGNC:13726" - - ncbi_gene_id: 63895 - gene_symbol: PIEZO2 - hgnc_id: "HGNC:26270" - - ncbi_gene_id: 64175 - gene_symbol: P3H1 - hgnc_id: "HGNC:19316" - - ncbi_gene_id: 64220 - gene_symbol: STRA6 - hgnc_id: "HGNC:30650" - - ncbi_gene_id: 64324 - gene_symbol: NSD1 - hgnc_id: "HGNC:14234" - - ncbi_gene_id: 64359 - gene_symbol: NXN - hgnc_id: "HGNC:18008" - - ncbi_gene_id: 64412 - gene_symbol: GZF1 - hgnc_id: "HGNC:15808" - - ncbi_gene_id: 64840 - gene_symbol: PORCN - hgnc_id: "HGNC:17652" - - ncbi_gene_id: 79158 - gene_symbol: GNPTAB - hgnc_id: "HGNC:29670" - - ncbi_gene_id: 79633 - gene_symbol: FAT4 - hgnc_id: "HGNC:23109" - - ncbi_gene_id: 79813 - gene_symbol: EHMT1 - hgnc_id: "HGNC:24650" - - ncbi_gene_id: 79989 - gene_symbol: IFT56 - hgnc_id: "HGNC:21882" - - ncbi_gene_id: 81031 - gene_symbol: SLC2A10 - hgnc_id: "HGNC:13444" - - ncbi_gene_id: 81857 - gene_symbol: MED25 - hgnc_id: "HGNC:28845" - - ncbi_gene_id: 84068 - gene_symbol: SLC10A7 - hgnc_id: "HGNC:23088" - - ncbi_gene_id: 84163 - gene_symbol: GTF2IRD2 - hgnc_id: "HGNC:30775" - - ncbi_gene_id: 84277 - gene_symbol: DNAJC30 - hgnc_id: "HGNC:16410" - - ncbi_gene_id: 84314 - gene_symbol: TMEM107 - hgnc_id: "HGNC:28128" - - ncbi_gene_id: 84667 - gene_symbol: HES7 - hgnc_id: "HGNC:15977" - - ncbi_gene_id: 84896 - gene_symbol: ATAD1 - hgnc_id: "HGNC:25903" - - ncbi_gene_id: 84992 - gene_symbol: PIGY - hgnc_id: "HGNC:28213" - - ncbi_gene_id: 91147 - gene_symbol: TMEM67 - hgnc_id: "HGNC:28396" - - ncbi_gene_id: 92579 - gene_symbol: G6PC3 - hgnc_id: "HGNC:24861" - - ncbi_gene_id: 94005 - gene_symbol: PIGS - hgnc_id: "HGNC:14937" - - ncbi_gene_id: 113189 - gene_symbol: CHST14 - hgnc_id: "HGNC:24464" - - ncbi_gene_id: 114049 - gene_symbol: BUD23 - hgnc_id: "HGNC:16405" - - ncbi_gene_id: 123263 - gene_symbol: MTFMT - hgnc_id: "HGNC:29666" - - ncbi_gene_id: 129563 - gene_symbol: DIS3L2 - hgnc_id: "HGNC:28648" - - ncbi_gene_id: 134701 - gene_symbol: RIPPLY2 - hgnc_id: "HGNC:21390" - - ncbi_gene_id: 135886 - gene_symbol: TMEM270 - hgnc_id: "HGNC:23018" - - ncbi_gene_id: 145173 - gene_symbol: B3GLCT - hgnc_id: "HGNC:20207" - - ncbi_gene_id: 145873 - gene_symbol: MESP2 - hgnc_id: "HGNC:29659" - - ncbi_gene_id: 149461 - gene_symbol: CLDN19 - hgnc_id: "HGNC:2040" - - ncbi_gene_id: 155368 - gene_symbol: METTL27 - hgnc_id: "HGNC:19068" - - ncbi_gene_id: 155382 - gene_symbol: VPS37D - hgnc_id: "HGNC:18287" - - ncbi_gene_id: 168667 - gene_symbol: BMPER - hgnc_id: "HGNC:24154" - - ncbi_gene_id: 170302 - gene_symbol: ARX - hgnc_id: "HGNC:18060" - - ncbi_gene_id: 197257 - gene_symbol: LDHD - hgnc_id: "HGNC:19708" - - ncbi_gene_id: 203068 - gene_symbol: TUBB - hgnc_id: "HGNC:20778" - - ncbi_gene_id: 221037 - gene_symbol: JMJD1C - hgnc_id: "HGNC:12313" - - ncbi_gene_id: 221927 - gene_symbol: BRAT1 - hgnc_id: "HGNC:21701" - - ncbi_gene_id: 259232 - gene_symbol: NALCN - hgnc_id: "HGNC:19082" - - ncbi_gene_id: 283120 - gene_symbol: H19 - hgnc_id: "HGNC:4713" - - ncbi_gene_id: 284098 - gene_symbol: PIGW - hgnc_id: "HGNC:23213" - - ncbi_gene_id: 285590 - gene_symbol: SH3PXD2B - hgnc_id: "HGNC:29242" - - ncbi_gene_id: 339983 - gene_symbol: NAT8L - hgnc_id: "HGNC:26742" - - ncbi_gene_id: 374654 - gene_symbol: KIF7 - hgnc_id: "HGNC:30497" - - ncbi_gene_id: 388015 - gene_symbol: RTL1 - hgnc_id: "HGNC:14665" - - ncbi_gene_id: 653361 - gene_symbol: NCF1 - hgnc_id: "HGNC:7660" - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_no_genes.snap index 40ce5ec..051839c 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_no_genes.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_no_genes.snap @@ -8,10 +8,26 @@ version: query: term_id: ~ name: Inguinal hernia - match_: ~ max_results: 100 genes: false result: - term_id: "HP:0000023" name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" + - term_id: "HP:0100541" + name: Femoral hernia + definition: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." + synonyms: + - Crural hernia + xrefs: + - "MEDDRA:10016434" + - "MSH:D006550" + - "SNOMEDCT_US:50063009" + - "UMLS:C0019288" diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_with_genes.snap index 801514a..9b2eea0 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_with_genes.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_exact_with_genes.snap @@ -8,12 +8,18 @@ version: query: term_id: ~ name: Inguinal hernia - match_: ~ max_results: 100 genes: true result: - term_id: "HP:0000023" name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" genes: - ncbi_gene_id: 59 gene_symbol: ACTA2 @@ -891,4 +897,69 @@ result: - ncbi_gene_id: 653361 gene_symbol: NCF1 hgnc_id: "HGNC:7660" + - term_id: "HP:0100541" + name: Femoral hernia + definition: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." + synonyms: + - Crural hernia + xrefs: + - "MEDDRA:10016434" + - "MSH:D006550" + - "SNOMEDCT_US:50063009" + - "UMLS:C0019288" + genes: + - ncbi_gene_id: 538 + gene_symbol: ATP7A + hgnc_id: "HGNC:869" + - ncbi_gene_id: 1277 + gene_symbol: COL1A1 + hgnc_id: "HGNC:2197" + - ncbi_gene_id: 1278 + gene_symbol: COL1A2 + hgnc_id: "HGNC:2198" + - ncbi_gene_id: 1836 + gene_symbol: SLC26A2 + hgnc_id: "HGNC:10994" + - ncbi_gene_id: 1855 + gene_symbol: DVL1 + hgnc_id: "HGNC:3084" + - ncbi_gene_id: 1857 + gene_symbol: DVL3 + hgnc_id: "HGNC:3087" + - ncbi_gene_id: 2187 + gene_symbol: FANCB + hgnc_id: "HGNC:3583" + - ncbi_gene_id: 2535 + gene_symbol: FZD2 + hgnc_id: "HGNC:4040" + - ncbi_gene_id: 4089 + gene_symbol: SMAD4 + hgnc_id: "HGNC:6770" + - ncbi_gene_id: 6899 + gene_symbol: TBX1 + hgnc_id: "HGNC:11592" + - ncbi_gene_id: 7474 + gene_symbol: WNT5A + hgnc_id: "HGNC:12784" + - ncbi_gene_id: 9321 + gene_symbol: TRIP11 + hgnc_id: "HGNC:12305" + - ncbi_gene_id: 9509 + gene_symbol: ADAMTS2 + hgnc_id: "HGNC:218" + - ncbi_gene_id: 9719 + gene_symbol: ADAMTSL2 + hgnc_id: "HGNC:14631" + - ncbi_gene_id: 9791 + gene_symbol: PTDSS1 + hgnc_id: "HGNC:9587" + - ncbi_gene_id: 79813 + gene_symbol: EHMT1 + hgnc_id: "HGNC:24650" + - ncbi_gene_id: 81031 + gene_symbol: SLC2A10 + hgnc_id: "HGNC:13444" + - ncbi_gene_id: 129563 + gene_symbol: DIS3L2 + hgnc_id: "HGNC:28648" diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_no_genes.snap new file mode 100644 index 0000000..0c8095b --- /dev/null +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_no_genes.snap @@ -0,0 +1,33 @@ +--- +source: src/server/actix_server/hpo_terms.rs +expression: "&run_query(\"/hpo/terms?name=Inguinal+hern\").await?" +--- +version: + hpo: 2023-04-05 + viguno: 0.0.0 +query: + term_id: ~ + name: Inguinal hern + max_results: 100 + genes: false +result: + - term_id: "HP:0000023" + name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" + - term_id: "HP:0100541" + name: Femoral hernia + definition: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." + synonyms: + - Crural hernia + xrefs: + - "MEDDRA:10016434" + - "MSH:D006550" + - "SNOMEDCT_US:50063009" + - "UMLS:C0019288" + diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_with_genes.snap similarity index 91% rename from src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_with_genes.snap rename to src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_with_genes.snap index 2ca537e..e2067cf 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_with_genes.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_fuzzy_with_genes.snap @@ -1,6 +1,6 @@ --- source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=Inguinal+hern&match=prefix&genes=true\").await?" +expression: "&run_query(\"/hpo/terms?name=Inguinal+hern&genes=true\").await?" --- version: hpo: 2023-04-05 @@ -8,12 +8,18 @@ version: query: term_id: ~ name: Inguinal hern - match_: prefix max_results: 100 genes: true result: - term_id: "HP:0000023" name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" genes: - ncbi_gene_id: 59 gene_symbol: ACTA2 @@ -891,4 +897,69 @@ result: - ncbi_gene_id: 653361 gene_symbol: NCF1 hgnc_id: "HGNC:7660" + - term_id: "HP:0100541" + name: Femoral hernia + definition: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." + synonyms: + - Crural hernia + xrefs: + - "MEDDRA:10016434" + - "MSH:D006550" + - "SNOMEDCT_US:50063009" + - "UMLS:C0019288" + genes: + - ncbi_gene_id: 538 + gene_symbol: ATP7A + hgnc_id: "HGNC:869" + - ncbi_gene_id: 1277 + gene_symbol: COL1A1 + hgnc_id: "HGNC:2197" + - ncbi_gene_id: 1278 + gene_symbol: COL1A2 + hgnc_id: "HGNC:2198" + - ncbi_gene_id: 1836 + gene_symbol: SLC26A2 + hgnc_id: "HGNC:10994" + - ncbi_gene_id: 1855 + gene_symbol: DVL1 + hgnc_id: "HGNC:3084" + - ncbi_gene_id: 1857 + gene_symbol: DVL3 + hgnc_id: "HGNC:3087" + - ncbi_gene_id: 2187 + gene_symbol: FANCB + hgnc_id: "HGNC:3583" + - ncbi_gene_id: 2535 + gene_symbol: FZD2 + hgnc_id: "HGNC:4040" + - ncbi_gene_id: 4089 + gene_symbol: SMAD4 + hgnc_id: "HGNC:6770" + - ncbi_gene_id: 6899 + gene_symbol: TBX1 + hgnc_id: "HGNC:11592" + - ncbi_gene_id: 7474 + gene_symbol: WNT5A + hgnc_id: "HGNC:12784" + - ncbi_gene_id: 9321 + gene_symbol: TRIP11 + hgnc_id: "HGNC:12305" + - ncbi_gene_id: 9509 + gene_symbol: ADAMTS2 + hgnc_id: "HGNC:218" + - ncbi_gene_id: 9719 + gene_symbol: ADAMTSL2 + hgnc_id: "HGNC:14631" + - ncbi_gene_id: 9791 + gene_symbol: PTDSS1 + hgnc_id: "HGNC:9587" + - ncbi_gene_id: 79813 + gene_symbol: EHMT1 + hgnc_id: "HGNC:24650" + - ncbi_gene_id: 81031 + gene_symbol: SLC2A10 + hgnc_id: "HGNC:13444" + - ncbi_gene_id: 129563 + gene_symbol: DIS3L2 + hgnc_id: "HGNC:28648" diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_no_genes.snap deleted file mode 100644 index 1cf3fe8..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_prefix_no_genes.snap +++ /dev/null @@ -1,17 +0,0 @@ ---- -source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=Inguinal+hern&match=prefix\").await?" ---- -version: - hpo: 2023-04-05 - viguno: 0.0.0 -query: - term_id: ~ - name: Inguinal hern - match_: prefix - max_results: 100 - genes: false -result: - - term_id: "HP:0000023" - name: Inguinal hernia - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_no_genes.snap deleted file mode 100644 index 9683df4..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_no_genes.snap +++ /dev/null @@ -1,17 +0,0 @@ ---- -source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=guinal+hernia&match=suffix\").await?" ---- -version: - hpo: 2023-04-05 - viguno: 0.0.0 -query: - term_id: ~ - name: guinal hernia - match_: suffix - max_results: 100 - genes: false -result: - - term_id: "HP:0000023" - name: Inguinal hernia - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_with_genes.snap deleted file mode 100644 index 0cca3e7..0000000 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_name_suffix_with_genes.snap +++ /dev/null @@ -1,894 +0,0 @@ ---- -source: src/server/actix_server/hpo_terms.rs -expression: "&run_query(\"/hpo/terms?name=guinal+hernia&match=suffix&genes=true\").await?" ---- -version: - hpo: 2023-04-05 - viguno: 0.0.0 -query: - term_id: ~ - name: guinal hernia - match_: suffix - max_results: 100 - genes: true -result: - - term_id: "HP:0000023" - name: Inguinal hernia - genes: - - ncbi_gene_id: 59 - gene_symbol: ACTA2 - hgnc_id: "HGNC:130" - - ncbi_gene_id: 165 - gene_symbol: AEBP1 - hgnc_id: "HGNC:303" - - ncbi_gene_id: 175 - gene_symbol: AGA - hgnc_id: "HGNC:318" - - ncbi_gene_id: 268 - gene_symbol: AMH - hgnc_id: "HGNC:464" - - ncbi_gene_id: 269 - gene_symbol: AMHR2 - hgnc_id: "HGNC:465" - - ncbi_gene_id: 367 - gene_symbol: AR - hgnc_id: "HGNC:644" - - ncbi_gene_id: 411 - gene_symbol: ARSB - hgnc_id: "HGNC:714" - - ncbi_gene_id: 421 - gene_symbol: ARVCF - hgnc_id: "HGNC:728" - - ncbi_gene_id: 477 - gene_symbol: ATP1A2 - hgnc_id: "HGNC:800" - - ncbi_gene_id: 523 - gene_symbol: ATP6V1A - hgnc_id: "HGNC:851" - - ncbi_gene_id: 529 - gene_symbol: ATP6V1E1 - hgnc_id: "HGNC:857" - - ncbi_gene_id: 538 - gene_symbol: ATP7A - hgnc_id: "HGNC:869" - - ncbi_gene_id: 613 - gene_symbol: BCR - hgnc_id: "HGNC:1014" - - ncbi_gene_id: 699 - gene_symbol: BUB1 - hgnc_id: "HGNC:1148" - - ncbi_gene_id: 715 - gene_symbol: C1R - hgnc_id: "HGNC:1246" - - ncbi_gene_id: 716 - gene_symbol: C1S - hgnc_id: "HGNC:1247" - - ncbi_gene_id: 871 - gene_symbol: SERPINH1 - hgnc_id: "HGNC:1546" - - ncbi_gene_id: 875 - gene_symbol: CBS - hgnc_id: "HGNC:1550" - - ncbi_gene_id: 998 - gene_symbol: CDC42 - hgnc_id: "HGNC:1736" - - ncbi_gene_id: 1028 - gene_symbol: CDKN1C - hgnc_id: "HGNC:1786" - - ncbi_gene_id: 1107 - gene_symbol: CHD3 - hgnc_id: "HGNC:1918" - - ncbi_gene_id: 1146 - gene_symbol: CHRNG - hgnc_id: "HGNC:1967" - - ncbi_gene_id: 1183 - gene_symbol: CLCN4 - hgnc_id: "HGNC:2022" - - ncbi_gene_id: 1277 - gene_symbol: COL1A1 - hgnc_id: "HGNC:2197" - - ncbi_gene_id: 1278 - gene_symbol: COL1A2 - hgnc_id: "HGNC:2198" - - ncbi_gene_id: 1280 - gene_symbol: COL2A1 - hgnc_id: "HGNC:2200" - - ncbi_gene_id: 1281 - gene_symbol: COL3A1 - hgnc_id: "HGNC:2201" - - ncbi_gene_id: 1289 - gene_symbol: COL5A1 - hgnc_id: "HGNC:2209" - - ncbi_gene_id: 1290 - gene_symbol: COL5A2 - hgnc_id: "HGNC:2210" - - ncbi_gene_id: 1312 - gene_symbol: COMT - hgnc_id: "HGNC:2228" - - ncbi_gene_id: 1387 - gene_symbol: CREBBP - hgnc_id: "HGNC:2348" - - ncbi_gene_id: 1399 - gene_symbol: CRKL - hgnc_id: "HGNC:2363" - - ncbi_gene_id: 1457 - gene_symbol: CSNK2A1 - hgnc_id: "HGNC:2457" - - ncbi_gene_id: 1501 - gene_symbol: CTNND2 - hgnc_id: "HGNC:2516" - - ncbi_gene_id: 1656 - gene_symbol: DDX6 - hgnc_id: "HGNC:2747" - - ncbi_gene_id: 1801 - gene_symbol: DPH1 - hgnc_id: "HGNC:3003" - - ncbi_gene_id: 1836 - gene_symbol: SLC26A2 - hgnc_id: "HGNC:10994" - - ncbi_gene_id: 1855 - gene_symbol: DVL1 - hgnc_id: "HGNC:3084" - - ncbi_gene_id: 1857 - gene_symbol: DVL3 - hgnc_id: "HGNC:3087" - - ncbi_gene_id: 1859 - gene_symbol: DYRK1A - hgnc_id: "HGNC:3091" - - ncbi_gene_id: 1861 - gene_symbol: TOR1A - hgnc_id: "HGNC:3098" - - ncbi_gene_id: 2006 - gene_symbol: ELN - hgnc_id: "HGNC:3327" - - ncbi_gene_id: 2146 - gene_symbol: EZH2 - 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gene_symbol: ATP6V0A2 - hgnc_id: "HGNC:18481" - - ncbi_gene_id: 23729 - gene_symbol: SHPK - hgnc_id: "HGNC:1492" - - ncbi_gene_id: 25782 - gene_symbol: RAB3GAP2 - hgnc_id: "HGNC:17168" - - ncbi_gene_id: 25836 - gene_symbol: NIPBL - hgnc_id: "HGNC:28862" - - ncbi_gene_id: 25942 - gene_symbol: SIN3A - hgnc_id: "HGNC:19353" - - ncbi_gene_id: 26040 - gene_symbol: SETBP1 - hgnc_id: "HGNC:15573" - - ncbi_gene_id: 26053 - gene_symbol: AUTS2 - hgnc_id: "HGNC:14262" - - ncbi_gene_id: 26227 - gene_symbol: PHGDH - hgnc_id: "HGNC:8923" - - ncbi_gene_id: 26229 - gene_symbol: B3GAT3 - hgnc_id: "HGNC:923" - - ncbi_gene_id: 26608 - gene_symbol: TBL2 - hgnc_id: "HGNC:11586" - - ncbi_gene_id: 27031 - gene_symbol: NPHP3 - hgnc_id: "HGNC:7907" - - ncbi_gene_id: 28952 - gene_symbol: CCDC22 - hgnc_id: "HGNC:28909" - - ncbi_gene_id: 29072 - gene_symbol: SETD2 - hgnc_id: "HGNC:18420" - - ncbi_gene_id: 29940 - gene_symbol: DSE - hgnc_id: "HGNC:21144" - - ncbi_gene_id: 29969 - gene_symbol: MDFIC - hgnc_id: "HGNC:28870" - - ncbi_gene_id: 30008 - gene_symbol: EFEMP2 - hgnc_id: "HGNC:3219" - - ncbi_gene_id: 51085 - gene_symbol: MLXIPL - hgnc_id: "HGNC:12744" - - ncbi_gene_id: 51360 - gene_symbol: MBTPS2 - hgnc_id: "HGNC:15455" - - ncbi_gene_id: 51780 - gene_symbol: KDM3B - hgnc_id: "HGNC:1337" - - ncbi_gene_id: 54101 - gene_symbol: RIPK4 - hgnc_id: "HGNC:496" - - ncbi_gene_id: 54487 - gene_symbol: DGCR8 - hgnc_id: "HGNC:2847" - - ncbi_gene_id: 54499 - gene_symbol: TMCO1 - hgnc_id: "HGNC:18188" - - ncbi_gene_id: 54914 - gene_symbol: FOCAD - hgnc_id: "HGNC:23377" - - ncbi_gene_id: 54968 - gene_symbol: TMEM70 - hgnc_id: "HGNC:26050" - - ncbi_gene_id: 55033 - gene_symbol: FKBP14 - hgnc_id: "HGNC:18625" - - ncbi_gene_id: 55384 - gene_symbol: MEG3 - hgnc_id: "HGNC:14575" - - ncbi_gene_id: 55503 - gene_symbol: TRPV6 - hgnc_id: "HGNC:14006" - - ncbi_gene_id: 55617 - gene_symbol: TASP1 - hgnc_id: "HGNC:15859" - - ncbi_gene_id: 55690 - gene_symbol: PACS1 - hgnc_id: "HGNC:30032" - - ncbi_gene_id: 55764 - gene_symbol: IFT122 - hgnc_id: "HGNC:13556" - - ncbi_gene_id: 56623 - gene_symbol: INPP5E - hgnc_id: "HGNC:21474" - - ncbi_gene_id: 57492 - gene_symbol: ARID1B - hgnc_id: "HGNC:18040" - - ncbi_gene_id: 57539 - gene_symbol: WDR35 - hgnc_id: "HGNC:29250" - - ncbi_gene_id: 57545 - gene_symbol: CC2D2A - hgnc_id: "HGNC:29253" - - ncbi_gene_id: 57589 - gene_symbol: RIC1 - hgnc_id: "HGNC:17686" - - ncbi_gene_id: 57728 - gene_symbol: WDR19 - hgnc_id: "HGNC:18340" - - ncbi_gene_id: 58508 - gene_symbol: KMT2C - hgnc_id: "HGNC:13726" - - ncbi_gene_id: 63895 - gene_symbol: PIEZO2 - hgnc_id: "HGNC:26270" - - ncbi_gene_id: 64175 - gene_symbol: P3H1 - hgnc_id: "HGNC:19316" - - ncbi_gene_id: 64220 - gene_symbol: STRA6 - hgnc_id: "HGNC:30650" - - ncbi_gene_id: 64324 - gene_symbol: NSD1 - hgnc_id: "HGNC:14234" - - ncbi_gene_id: 64359 - gene_symbol: NXN - hgnc_id: "HGNC:18008" - - ncbi_gene_id: 64412 - gene_symbol: GZF1 - hgnc_id: "HGNC:15808" - - ncbi_gene_id: 64840 - gene_symbol: PORCN - hgnc_id: "HGNC:17652" - - ncbi_gene_id: 79158 - gene_symbol: GNPTAB - hgnc_id: "HGNC:29670" - - ncbi_gene_id: 79633 - gene_symbol: FAT4 - hgnc_id: "HGNC:23109" - - ncbi_gene_id: 79813 - gene_symbol: EHMT1 - hgnc_id: "HGNC:24650" - - ncbi_gene_id: 79989 - gene_symbol: IFT56 - hgnc_id: "HGNC:21882" - - ncbi_gene_id: 81031 - gene_symbol: SLC2A10 - hgnc_id: "HGNC:13444" - - ncbi_gene_id: 81857 - gene_symbol: MED25 - hgnc_id: "HGNC:28845" - - ncbi_gene_id: 84068 - gene_symbol: SLC10A7 - hgnc_id: "HGNC:23088" - - ncbi_gene_id: 84163 - gene_symbol: GTF2IRD2 - hgnc_id: "HGNC:30775" - - ncbi_gene_id: 84277 - gene_symbol: DNAJC30 - hgnc_id: "HGNC:16410" - - ncbi_gene_id: 84314 - gene_symbol: TMEM107 - hgnc_id: "HGNC:28128" - - ncbi_gene_id: 84667 - gene_symbol: HES7 - hgnc_id: "HGNC:15977" - - ncbi_gene_id: 84896 - gene_symbol: ATAD1 - hgnc_id: "HGNC:25903" - - ncbi_gene_id: 84992 - gene_symbol: PIGY - hgnc_id: "HGNC:28213" - - ncbi_gene_id: 91147 - gene_symbol: TMEM67 - hgnc_id: "HGNC:28396" - - ncbi_gene_id: 92579 - gene_symbol: G6PC3 - hgnc_id: "HGNC:24861" - - ncbi_gene_id: 94005 - gene_symbol: PIGS - hgnc_id: "HGNC:14937" - - ncbi_gene_id: 113189 - gene_symbol: CHST14 - hgnc_id: "HGNC:24464" - - ncbi_gene_id: 114049 - gene_symbol: BUD23 - hgnc_id: "HGNC:16405" - - ncbi_gene_id: 123263 - gene_symbol: MTFMT - hgnc_id: "HGNC:29666" - - ncbi_gene_id: 129563 - gene_symbol: DIS3L2 - hgnc_id: "HGNC:28648" - - ncbi_gene_id: 134701 - gene_symbol: RIPPLY2 - hgnc_id: "HGNC:21390" - - ncbi_gene_id: 135886 - gene_symbol: TMEM270 - hgnc_id: "HGNC:23018" - - ncbi_gene_id: 145173 - gene_symbol: B3GLCT - hgnc_id: "HGNC:20207" - - ncbi_gene_id: 145873 - gene_symbol: MESP2 - hgnc_id: "HGNC:29659" - - ncbi_gene_id: 149461 - gene_symbol: CLDN19 - hgnc_id: "HGNC:2040" - - ncbi_gene_id: 155368 - gene_symbol: METTL27 - hgnc_id: "HGNC:19068" - - ncbi_gene_id: 155382 - gene_symbol: VPS37D - hgnc_id: "HGNC:18287" - - ncbi_gene_id: 168667 - gene_symbol: BMPER - hgnc_id: "HGNC:24154" - - ncbi_gene_id: 170302 - gene_symbol: ARX - hgnc_id: "HGNC:18060" - - ncbi_gene_id: 197257 - gene_symbol: LDHD - hgnc_id: "HGNC:19708" - - ncbi_gene_id: 203068 - gene_symbol: TUBB - hgnc_id: "HGNC:20778" - - ncbi_gene_id: 221037 - gene_symbol: JMJD1C - hgnc_id: "HGNC:12313" - - ncbi_gene_id: 221927 - gene_symbol: BRAT1 - hgnc_id: "HGNC:21701" - - ncbi_gene_id: 259232 - gene_symbol: NALCN - hgnc_id: "HGNC:19082" - - ncbi_gene_id: 283120 - gene_symbol: H19 - hgnc_id: "HGNC:4713" - - ncbi_gene_id: 284098 - gene_symbol: PIGW - hgnc_id: "HGNC:23213" - - ncbi_gene_id: 285590 - gene_symbol: SH3PXD2B - hgnc_id: "HGNC:29242" - - ncbi_gene_id: 339983 - gene_symbol: NAT8L - hgnc_id: "HGNC:26742" - - ncbi_gene_id: 374654 - gene_symbol: KIF7 - hgnc_id: "HGNC:30497" - - ncbi_gene_id: 388015 - gene_symbol: RTL1 - hgnc_id: "HGNC:14665" - - ncbi_gene_id: 653361 - gene_symbol: NCF1 - hgnc_id: "HGNC:7660" - diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_no_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_no_genes.snap index a477a42..eb65f00 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_no_genes.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_no_genes.snap @@ -8,10 +8,16 @@ version: query: term_id: "HP:0000023" name: ~ - match_: ~ max_results: 100 genes: false result: - term_id: "HP:0000023" name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" diff --git a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_with_genes.snap b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_with_genes.snap index f40d9e9..5340e3e 100644 --- a/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_with_genes.snap +++ b/src/server/actix_server/snapshots/viguno__server__actix_server__hpo_terms__test__hpo_terms_term_id_exact_with_genes.snap @@ -8,12 +8,18 @@ version: query: term_id: "HP:0000023" name: ~ - match_: ~ max_results: 100 genes: true result: - term_id: "HP:0000023" name: Inguinal hernia + definition: Protrusion of the contents of the abdominal cavity through the inguinal canal. + synonyms: ~ + xrefs: + - "MEDDRA:10022016" + - "MSH:D006552" + - "SNOMEDCT_US:396232000" + - "UMLS:C0019294" genes: - ncbi_gene_id: 59 gene_symbol: ACTA2