diff --git a/Cargo.lock b/Cargo.lock index f725b7d..088b64c 100644 --- a/Cargo.lock +++ b/Cargo.lock @@ -49,7 +49,7 @@ dependencies = [ "mime", "percent-encoding", "pin-project-lite", - "rand", + "rand 0.8.5", "sha1", "smallvec", "tokio", @@ -233,6 +233,12 @@ dependencies = [ "alloc-no-stdlib", ] +[[package]] +name = "allocator-api2" +version = "0.2.16" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0942ffc6dcaadf03badf6e6a2d0228460359d5e34b57ccdc720b7382dfbd5ec5" + [[package]] name = "anstream" version = "0.6.5" @@ -309,6 +315,23 @@ dependencies = [ "syn 1.0.109", ] +[[package]] +name = "arc-swap" +version = "1.6.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "bddcadddf5e9015d310179a59bb28c4d4b9920ad0f11e8e14dbadf654890c9a6" + +[[package]] +name = "async-trait" +version = "0.1.75" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "fdf6721fb0140e4f897002dd086c06f6c27775df19cfe1fccb21181a48fd2c98" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.42", +] + [[package]] name = "autocfg" version = "1.1.0" @@ -369,6 +392,15 @@ version = "2.4.1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "327762f6e5a765692301e5bb513e0d9fef63be86bbc14528052b1cd3e6f03e07" +[[package]] +name = "bitpacking" +version = "0.8.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a8c7d2ac73c167c06af4a5f37e6e59d84148d57ccbe4480b76f0273eefea82d7" +dependencies = [ + "crunchy", +] + [[package]] name = "blanket" version = "0.2.0" @@ -410,12 +442,24 @@ dependencies = [ "alloc-stdlib", ] +[[package]] +name = "bumpalo" +version = "3.14.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7f30e7476521f6f8af1a1c4c0b8cc94f0bee37d91763d0ca2665f299b6cd8aec" + [[package]] name = "bytemuck" version = "1.14.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "374d28ec25809ee0e23827c2ab573d729e293f281dfe393500e7ad618baa61c6" +[[package]] +name = "byteorder" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "1fd0f2584146f6f2ef48085050886acf353beff7305ebd1ae69500e27c67f64b" + [[package]] name = "bytes" version = "1.5.0" @@ -452,6 +496,12 @@ dependencies = [ "libc", ] +[[package]] +name = "census" +version = "0.4.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0fafee10a5dd1cffcb5cc560e0d0df8803d7355a2b12272e3557dee57314cb6e" + [[package]] name = "cexpr" version = "0.6.0" @@ -634,6 +684,12 @@ dependencies = [ "cfg-if", ] +[[package]] +name = "crunchy" +version = "0.2.2" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7a81dae078cea95a014a339291cec439d2f232ebe854a9d672b796c6afafa9b7" + [[package]] name = "crypto-common" version = "0.1.6" @@ -707,6 +763,7 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "8eb30d70a07a3b04884d2677f06bec33509dc67ca60d92949e5535352d3191dc" dependencies = [ "powerfmt", + "serde", ] [[package]] @@ -753,6 +810,12 @@ dependencies = [ "windows-sys 0.48.0", ] +[[package]] +name = "downcast-rs" +version = "1.2.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "9ea835d29036a4087793836fa931b08837ad5e957da9e23886b29586fb9b6650" + [[package]] name = "either" version = "1.9.0" @@ -803,6 +866,12 @@ dependencies = [ "windows-sys 0.52.0", ] +[[package]] +name = "fastdivide" +version = "0.4.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "25c7df09945d65ea8d70b3321547ed414bbc540aad5bac6883d021b970f35b04" + [[package]] name = "fastobo" version = "0.15.2" @@ -886,6 +955,22 @@ dependencies = [ "percent-encoding", ] +[[package]] +name = "fs4" +version = "0.6.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "2eeb4ed9e12f43b7fa0baae3f9cdda28352770132ef2e09a23760c29cae8bd47" +dependencies = [ + "rustix", + "windows-sys 0.48.0", +] + +[[package]] +name = "fuchsia-cprng" +version = "0.1.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a06f77d526c1a601b7c4cdd98f54b5eaabffc14d5f2f0296febdc7f357c6d3ba" + [[package]] name = "futures-core" version = "0.3.29" @@ -916,6 +1001,19 @@ dependencies = [ "pin-utils", ] +[[package]] +name = "generator" +version = "0.7.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "5cc16584ff22b460a382b7feec54b23d2908d858152e5739a120b949293bd74e" +dependencies = [ + "cc", + "libc", + "log", + "rustversion", + "windows", +] + [[package]] name = "generic-array" version = "0.14.7" @@ -973,6 +1071,10 @@ name = "hashbrown" version = "0.14.3" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "290f1a1d9242c78d09ce40a5e87e7554ee637af1351968159f4952f028f75604" +dependencies = [ + "ahash", + "allocator-api2", +] [[package]] name = "heck" @@ -1014,6 +1116,12 @@ dependencies = [ "tracing", ] +[[package]] +name = "htmlescape" +version = "0.3.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "e9025058dae765dee5070ec375f591e2ba14638c63feff74f13805a72e523163" + [[package]] name = "http" version = "0.2.11" @@ -1105,6 +1213,9 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "7a5bbe824c507c5da5956355e86a746d82e0e1464f65d862cc5e71da70e94b2c" dependencies = [ "cfg-if", + "js-sys", + "wasm-bindgen", + "web-sys", ] [[package]] @@ -1160,6 +1271,15 @@ dependencies = [ "libc", ] +[[package]] +name = "js-sys" +version = "0.3.66" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "cee9c64da59eae3b50095c18d3e74f8b73c0b86d2792824ff01bbce68ba229ca" +dependencies = [ + "wasm-bindgen", +] + [[package]] name = "language-tags" version = "0.3.2" @@ -1178,6 +1298,12 @@ version = "1.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "830d08ce1d1d941e6b30645f1a0eb5643013d835ce3779a5fc208261dbe10f55" +[[package]] +name = "levenshtein_automata" +version = "0.2.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0c2cdeb66e45e9f36bfad5bbdb4d2384e70936afbee843c6f6543f0c551ebb25" + [[package]] name = "libc" version = "0.2.151" @@ -1283,6 +1409,29 @@ version = "0.4.20" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "b5e6163cb8c49088c2c36f57875e58ccd8c87c7427f7fbd50ea6710b2f3f2e8f" +[[package]] +name = "loom" +version = "0.5.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "ff50ecb28bb86013e935fb6683ab1f6d3a20016f123c76fd4c27470076ac30f5" +dependencies = [ + "cfg-if", + "generator", + "pin-utils", + "scoped-tls", + "tracing", + "tracing-subscriber", +] + +[[package]] +name = "lru" +version = "0.11.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a4a83fb7698b3643a0e34f9ae6f2e8f0178c0fd42f8b59d493aa271ff3a5bf21" +dependencies = [ + "hashbrown", +] + [[package]] name = "lz4-sys" version = "1.9.4" @@ -1293,6 +1442,21 @@ dependencies = [ "libc", ] +[[package]] +name = "lz4_flex" +version = "0.11.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "3ea9b256699eda7b0387ffbc776dd625e28bde3918446381781245b7a50349d8" + +[[package]] +name = "matchers" +version = "0.1.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "8263075bb86c5a1b1427b5ae862e8889656f126e9f77c484496e8b47cf5c5558" +dependencies = [ + "regex-automata 0.1.10", +] + [[package]] name = "matrixmultiply" version = "0.3.8" @@ -1303,12 +1467,31 @@ dependencies = [ "rawpointer", ] +[[package]] +name = "measure_time" +version = "0.8.2" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "56220900f1a0923789ecd6bf25fbae8af3b2f1ff3e9e297fc9b6b8674dd4d852" +dependencies = [ + "instant", + "log", +] + [[package]] name = "memchr" version = "2.6.4" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "f665ee40bc4a3c5590afb1e9677db74a508659dfd71e126420da8274909a0167" +[[package]] +name = "memmap2" +version = "0.7.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "f49388d20533534cd19360ad3d6a7dadc885944aa802ba3995040c5ec11288c6" +dependencies = [ + "libc", +] + [[package]] name = "memoffset" version = "0.9.0" @@ -1357,6 +1540,12 @@ version = "0.8.3" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "e5ce46fe64a9d73be07dcbe690a38ce1b293be448fd8ce1e6c1b8062c9f72c6a" +[[package]] +name = "murmurhash32" +version = "0.3.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "d9380db4c04d219ac5c51d14996bbf2c2e9a15229771b53f8671eb6c83cf44df" + [[package]] name = "nalgebra" version = "0.29.0" @@ -1369,7 +1558,7 @@ dependencies = [ "num-complex", "num-rational", "num-traits", - "rand", + "rand 0.8.5", "rand_distr", "simba", "typenum", @@ -1477,6 +1666,15 @@ version = "1.19.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "3fdb12b2476b595f9358c5161aa467c2438859caa136dec86c26fdd2efe17b92" +[[package]] +name = "oneshot" +version = "0.1.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "6f6640c6bda7731b1fdbab747981a0f896dd1fedaf9f4a53fa237a04a84431f4" +dependencies = [ + "loom", +] + [[package]] name = "option-ext" version = "0.2.0" @@ -1498,6 +1696,15 @@ version = "0.1.1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "b15813163c1d831bf4a13c3610c05c0d03b39feb07f7e09fa234dac9b15aaf39" +[[package]] +name = "ownedbytes" +version = "0.6.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "6e8a72b918ae8198abb3a18c190288123e1d442b6b9a7d709305fd194688b4b7" +dependencies = [ + "stable_deref_trait", +] + [[package]] name = "parking_lot" version = "0.12.1" @@ -1736,6 +1943,19 @@ dependencies = [ "proc-macro2", ] +[[package]] +name = "rand" +version = "0.4.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "552840b97013b1a26992c11eac34bdd778e464601a4c2054b5f0bff7c6761293" +dependencies = [ + "fuchsia-cprng", + "libc", + "rand_core 0.3.1", + "rdrand", + "winapi", +] + [[package]] name = "rand" version = "0.8.5" @@ -1744,7 +1964,7 @@ checksum = "34af8d1a0e25924bc5b7c43c079c942339d8f0a8b57c39049bef581b46327404" dependencies = [ "libc", "rand_chacha", - "rand_core", + "rand_core 0.6.4", ] [[package]] @@ -1754,9 +1974,24 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "e6c10a63a0fa32252be49d21e7709d4d4baf8d231c2dbce1eaa8141b9b127d88" dependencies = [ "ppv-lite86", - "rand_core", + "rand_core 0.6.4", ] +[[package]] +name = "rand_core" +version = "0.3.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7a6fdeb83b075e8266dcc8762c22776f6877a63111121f5f8c7411e5be7eed4b" +dependencies = [ + "rand_core 0.4.2", +] + +[[package]] +name = "rand_core" +version = "0.4.2" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "9c33a3c44ca05fa6f1807d8e6743f3824e8509beca625669633be0acbdf509dc" + [[package]] name = "rand_core" version = "0.6.4" @@ -1773,7 +2008,7 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "32cb0b9bc82b0a0876c2dd994a7e7a2683d3e7390ca40e6886785ef0c7e3ee31" dependencies = [ "num-traits", - "rand", + "rand 0.8.5", ] [[package]] @@ -1802,6 +2037,15 @@ dependencies = [ "crossbeam-utils", ] +[[package]] +name = "rdrand" +version = "0.4.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "678054eb77286b51581ba43620cc911abf02758c91f93f479767aed0f90458b2" +dependencies = [ + "rand_core 0.3.1", +] + [[package]] name = "redox_syscall" version = "0.4.1" @@ -1830,8 +2074,17 @@ checksum = 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version = "1.2.0" @@ -2093,6 +2377,15 @@ version = "2.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "2aeaf503862c419d66959f5d7ca015337d864e9c49485d771b732e2a20453597" +[[package]] +name = "sketches-ddsketch" +version = "0.2.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "68a406c1882ed7f29cd5e248c9848a80e7cb6ae0fea82346d2746f2f941c07e1" +dependencies = [ + "serde", +] + [[package]] name = "slab" version = "0.4.9" @@ -2129,6 +2422,12 @@ dependencies = [ "windows-sys 0.48.0", ] +[[package]] +name = "stable_deref_trait" +version = "1.2.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a8f112729512f8e442d81f95a8a7ddf2b7c6b8a1a6f509a95864142b30cab2d3" + [[package]] name = "static_assertions" version = "1.1.0" @@ -2145,7 +2444,7 @@ dependencies = [ "lazy_static", "nalgebra", "num-traits", - "rand", + "rand 0.8.5", ] [[package]] @@ -2198,12 +2497,162 @@ dependencies = [ "unicode-ident", ] 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"registry+https://github.com/rust-lang/crates.io-index" +checksum = "347b6fb212b26d3505d224f438e3c4b827ab8bd847fe9953ad5ac6b8f9443b66" +dependencies = [ + "serde", +] + [[package]] name = "temp_testdir" version = "0.2.3" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "921f1e9c427802414907a48b21a6504ff6b3a15a1a3cf37e699590949ad9befc" +[[package]] +name = "tempdir" +version = "0.3.7" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "15f2b5fb00ccdf689e0149d1b1b3c03fead81c2b37735d812fa8bddbbf41b6d8" +dependencies = [ + "rand 0.4.6", + "remove_dir_all", +] + [[package]] name = "tempfile" version = "3.8.1" @@ -2381,10 +2830,14 @@ version = "0.3.18" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "ad0f048c97dbd9faa9b7df56362b8ebcaa52adb06b498c050d2f4e32f90a7a8b" dependencies = [ + "matchers", "nu-ansi-term", + "once_cell", + "regex", "sharded-slab", "smallvec", "thread_local", + "tracing", "tracing-core", "tracing-log", ] @@ -2439,12 +2892,28 @@ dependencies = [ "percent-encoding", ] +[[package]] +name = "utf8-ranges" +version = "1.0.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7fcfc827f90e53a02eaef5e535ee14266c1d569214c6aa70133a624d8a3164ba" + [[package]] name = "utf8parse" version = "0.2.1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "711b9620af191e0cdc7468a8d14e709c3dcdb115b36f838e601583af800a370a" +[[package]] +name = "uuid" +version = "1.6.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "5e395fcf16a7a3d8127ec99782007af141946b4795001f876d54fb0d55978560" +dependencies = [ + "getrandom", + "serde", +] + [[package]] name = "valuable" version = "0.1.0" @@ -2500,7 +2969,9 @@ dependencies = [ "shellexpand", "strum", "strum_macros", + "tantivy", "temp_testdir", + "tempdir", "thiserror", "tracing", "tracing-subscriber", @@ -2512,6 +2983,70 @@ version = "0.11.0+wasi-snapshot-preview1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "9c8d87e72b64a3b4db28d11ce29237c246188f4f51057d65a7eab63b7987e423" +[[package]] +name = "wasm-bindgen" +version = "0.2.89" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0ed0d4f68a3015cc185aff4db9506a015f4b96f95303897bfa23f846db54064e" +dependencies = [ + "cfg-if", + "wasm-bindgen-macro", +] + +[[package]] +name = "wasm-bindgen-backend" +version = "0.2.89" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "1b56f625e64f3a1084ded111c4d5f477df9f8c92df113852fa5a374dbda78826" +dependencies = [ + "bumpalo", + "log", + "once_cell", + "proc-macro2", + "quote", + "syn 2.0.42", + "wasm-bindgen-shared", +] + +[[package]] +name = "wasm-bindgen-macro" +version = "0.2.89" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0162dbf37223cd2afce98f3d0785506dcb8d266223983e4b5b525859e6e182b2" +dependencies = [ + "quote", + "wasm-bindgen-macro-support", +] + +[[package]] +name = "wasm-bindgen-macro-support" +version = "0.2.89" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "f0eb82fcb7930ae6219a7ecfd55b217f5f0893484b7a13022ebb2b2bf20b5283" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.42", + "wasm-bindgen-backend", + "wasm-bindgen-shared", +] + +[[package]] +name = "wasm-bindgen-shared" +version = "0.2.89" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7ab9b36309365056cd639da3134bf87fa8f3d86008abf99e612384a6eecd459f" + +[[package]] +name = "web-sys" +version = "0.3.66" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "50c24a44ec86bb68fbecd1b3efed7e85ea5621b39b35ef2766b66cd984f8010f" +dependencies = [ + "js-sys", + "wasm-bindgen", +] + [[package]] name = "which" version = "4.4.2" @@ -2565,6 +3100,15 @@ version = "0.4.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "712e227841d057c1ee1cd2fb22fa7e5a5461ae8e48fa2ca79ec42cfc1931183f" +[[package]] +name = "windows" +version = "0.48.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "e686886bc078bc1b0b600cac0147aadb815089b6e4da64016cbd754b6342700f" +dependencies = [ + "windows-targets 0.48.5", +] + [[package]] name = "windows-sys" version = "0.45.0" diff --git a/Cargo.toml b/Cargo.toml index 915bcdd..622dd17 100644 --- a/Cargo.toml +++ b/Cargo.toml @@ -38,6 +38,8 @@ serde_with = { version = "3.3", features=["alloc", "macros", "indexmap_2"], defa shellexpand = "3.0" strum = { version = "0.25", features = ["strum_macros", "derive"] } strum_macros = "0.25" +tantivy = "0.21.1" +tempdir = "0.3.7" thiserror = "1.0" tracing = "0.1" tracing-subscriber = "0.3" diff --git a/src/index.rs b/src/index.rs new file mode 100644 index 0000000..1514bd2 --- /dev/null +++ b/src/index.rs @@ -0,0 +1,187 @@ +//! Full text index for OBO documents using tantivy. + +use tantivy::schema::Schema; + +/// Encapsulation of a Tantivy index. +/// +/// The index lives in a directory and will only persist as long as the lifetime of this struct. +pub struct Index { + /// The index directory. + #[allow(dead_code)] + tmpdir: tempdir::TempDir, // keep around for RAII + /// The HPO document. + hpo_doc: fastobo::ast::OboDoc, + /// The index. + index: tantivy::Index, + /// The index schema. + schema: tantivy::schema::Schema, + /// The single reader. + reader: tantivy::IndexReader, +} + +/// Convert ident to String. +fn ident_to_string(ident: &fastobo::ast::Ident) -> String { + match ident { + fastobo::ast::Ident::Prefixed(val) => format!("{}:{}", val.prefix(), val.local()), + fastobo::ast::Ident::Unprefixed(val) => val.as_str().to_string(), + fastobo::ast::Ident::Url(val) => val.as_str().to_string(), + } +} + +// Code for creating an `Index`. +impl Index { + /// Create a new index from an OBO document. + /// + /// # Args + /// + /// * `hpo_doc` - The OBO document to index. + /// + /// # Errors + /// + /// In the case that the index cannot be created. + pub fn new(hpo_doc: fastobo::ast::OboDoc) -> Result { + let schema = Self::build_schema(); + let tmpdir = tempdir::TempDir::new("viguno")?; + let index = tantivy::Index::create_in_dir(tmpdir.path(), schema.clone())?; + + let mut index_writer = index.writer(100_000_000).map_err(|e| { + anyhow::anyhow!( + "Error creating tantivy index writer for directory {:?}: {}", + tmpdir.path(), + e + ) + })?; + Self::write_hpo_index(&hpo_doc, &schema, &mut index_writer).map_err(|e| { + anyhow::anyhow!( + "Error writing HPO index for directory {:?}: {}", + tmpdir.path(), + e + ) + })?; + + let reader = index + .reader_builder() + .reload_policy(tantivy::ReloadPolicy::Manual) + .try_into()?; + + Ok(Self { + tmpdir, + hpo_doc, + index, + schema, + reader, + }) + } + + /// Build the tantivy schema for the HPO. + fn build_schema() -> Schema { + use tantivy::schema::{STORED, STRING, TEXT}; + + let mut schema_builder = Schema::builder(); + schema_builder.add_text_field("term_id", STRING | STORED); + schema_builder.add_text_field("alt_id", STRING | STORED); + schema_builder.add_text_field("name", TEXT | STORED); + schema_builder.add_text_field("def", TEXT | STORED); + schema_builder.add_text_field("synonym", TEXT | STORED); + schema_builder.add_text_field("xref", STRING | STORED); + schema_builder.build() + } + + /// Index the HPO document. + fn write_hpo_index( + hpo_doc: &fastobo::ast::OboDoc, + schema: &tantivy::schema::Schema, + index_writer: &mut tantivy::IndexWriter, + ) -> Result<(), anyhow::Error> { + for term_frame in hpo_doc + .entities() + .iter() + .flat_map(fastobo::ast::EntityFrame::as_term) + { + let mut doc = tantivy::Document::default(); + + doc.add_field_value( + schema.get_field("term_id")?, + ident_to_string(term_frame.id().as_inner().as_ref()), + ); + + for line in term_frame.clauses().iter().map(|l| l.as_inner()) { + match line { + fastobo::ast::TermClause::Name(name) => { + doc.add_field_value(schema.get_field("name")?, name.as_str()); + } + fastobo::ast::TermClause::AltId(alt_id) => { + doc.add_field_value( + schema.get_field("alt_id")?, + ident_to_string(alt_id).as_str(), + ); + } + fastobo::ast::TermClause::Def(def) => { + doc.add_field_value(schema.get_field("def")?, def.text().as_str()); + } + fastobo::ast::TermClause::Synonym(synonym) => { + doc.add_field_value( + schema.get_field("synonym")?, + synonym.description().as_str(), + ); + } + fastobo::ast::TermClause::Xref(xref) => { + doc.add_field_value(schema.get_field("xref")?, ident_to_string(xref.id())); + } + fastobo::ast::TermClause::IsAnonymous(_) + | fastobo::ast::TermClause::Comment(_) + | fastobo::ast::TermClause::Namespace(_) + | fastobo::ast::TermClause::Subset(_) + | fastobo::ast::TermClause::Builtin(_) + | fastobo::ast::TermClause::PropertyValue(_) + | fastobo::ast::TermClause::IsA(_) + | fastobo::ast::TermClause::IntersectionOf(_, _) + | fastobo::ast::TermClause::UnionOf(_) + | fastobo::ast::TermClause::EquivalentTo(_) + | fastobo::ast::TermClause::DisjointFrom(_) + | fastobo::ast::TermClause::Relationship(_, _) + | fastobo::ast::TermClause::CreatedBy(_) + | fastobo::ast::TermClause::CreationDate(_) + | fastobo::ast::TermClause::IsObsolete(_) + | fastobo::ast::TermClause::ReplacedBy(_) + | fastobo::ast::TermClause::Consider(_) => (), + } + } + + index_writer.add_document(doc).map_err(|e| { + anyhow::anyhow!( + "Error adding document to tantivy index writer: {}", + e.to_string() + ) + })?; + } + + index_writer + .commit() + .map_err(|e| anyhow::anyhow!("Error committing tantivy index writer: {}", e))?; + Ok(()) + } +} + +// Accessor code. +impl Index { + /// Get the HPO document. + pub fn hpo_doc(&self) -> &fastobo::ast::OboDoc { + &self.hpo_doc + } + + /// Get the index. + pub fn index(&self) -> &tantivy::Index { + &self.index + } + + /// Get the schema. + pub fn schema(&self) -> &tantivy::schema::Schema { + &self.schema + } + + /// Get the reader. + pub fn reader(&self) -> &tantivy::IndexReader { + &self.reader + } +} diff --git a/src/main.rs b/src/main.rs index 264c75e..0d09ebb 100644 --- a/src/main.rs +++ b/src/main.rs @@ -7,6 +7,7 @@ pub mod algos; pub mod common; pub mod convert; +pub mod index; pub mod pbs; pub mod query; pub mod server; diff --git a/src/server/actix_server/hpo_genes.rs b/src/server/actix_server/hpo_genes.rs index df9f50a..47c2e2a 100644 --- a/src/server/actix_server/hpo_genes.rs +++ b/src/server/actix_server/hpo_genes.rs @@ -193,6 +193,7 @@ mod test { let ncbi_to_hgnc = crate::common::hgnc_xlink::load_ncbi_to_hgnc("tests/data/hgnc_xlink.tsv")?; let hgnc_to_ncbi = crate::common::hgnc_xlink::inverse_hashmap(&ncbi_to_hgnc); + let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo")?; let app = actix_web::test::init_service( actix_web::App::new() .app_data(actix_web::web::Data::new(crate::server::WebServerData { @@ -200,6 +201,7 @@ mod test { db: None, ncbi_to_hgnc, hgnc_to_ncbi, + full_text_index: crate::index::Index::new(hpo_doc)?, })) .service(super::handle), ) diff --git a/src/server/actix_server/hpo_omims.rs b/src/server/actix_server/hpo_omims.rs index d1422ce..f5c8cb0 100644 --- a/src/server/actix_server/hpo_omims.rs +++ b/src/server/actix_server/hpo_omims.rs @@ -220,6 +220,7 @@ mod test { let ncbi_to_hgnc = crate::common::hgnc_xlink::load_ncbi_to_hgnc("tests/data/hgnc_xlink.tsv")?; let hgnc_to_ncbi = crate::common::hgnc_xlink::inverse_hashmap(&ncbi_to_hgnc); + let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo")?; let app = actix_web::test::init_service( actix_web::App::new() .app_data(actix_web::web::Data::new(crate::server::WebServerData { @@ -227,6 +228,7 @@ mod test { db: None, ncbi_to_hgnc, hgnc_to_ncbi, + full_text_index: crate::index::Index::new(hpo_doc)?, })) .service(super::handle), ) diff --git a/src/server/actix_server/hpo_sim/term_gene.rs b/src/server/actix_server/hpo_sim/term_gene.rs index a4cc160..3f3644e 100644 --- a/src/server/actix_server/hpo_sim/term_gene.rs +++ b/src/server/actix_server/hpo_sim/term_gene.rs @@ -118,6 +118,7 @@ mod test { ["meta", "scores"], true, )?); + let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo")?; let app = actix_web::test::init_service( actix_web::App::new() @@ -126,6 +127,7 @@ mod test { db, ncbi_to_hgnc, hgnc_to_ncbi, + full_text_index: crate::index::Index::new(hpo_doc)?, })) .service(super::handle), ) diff --git a/src/server/actix_server/hpo_sim/term_term.rs b/src/server/actix_server/hpo_sim/term_term.rs index 7752e6e..c3dd012 100644 --- a/src/server/actix_server/hpo_sim/term_term.rs +++ b/src/server/actix_server/hpo_sim/term_term.rs @@ -173,6 +173,7 @@ mod test { ["meta", "scores"], true, )?); + let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo")?; let app = actix_web::test::init_service( actix_web::App::new() @@ -181,6 +182,7 @@ mod test { db, ncbi_to_hgnc, hgnc_to_ncbi, + full_text_index: crate::index::Index::new(hpo_doc)?, })) .service(super::handle), ) diff --git a/src/server/actix_server/hpo_terms.rs b/src/server/actix_server/hpo_terms.rs index bd9eb96..e33b4bb 100644 --- a/src/server/actix_server/hpo_terms.rs +++ b/src/server/actix_server/hpo_terms.rs @@ -11,7 +11,7 @@ use hpo::{annotations::AnnotationId, HpoTerm, HpoTermId, Ontology}; use crate::server::WebServerData; -use super::{CustomError, Match, ResultGene}; +use super::{CustomError, ResultGene}; /// Parameters for `handle`. /// @@ -22,19 +22,12 @@ use super::{CustomError, Match, ResultGene}; /// - `gene_symbol` -- specify the gene symbol /// - `max_results` -- the maximum number of records to return /// - `genes` -- whether to include `"genes"` in result -/// -/// The following propery defines how matches are performed: -/// -/// - `match` -- how to match #[derive(serde::Serialize, serde::Deserialize, Debug, Clone)] struct Query { /// The term ID to search for. pub term_id: Option, /// The term name to search for. pub name: Option, - /// The match mode. - #[serde(alias = "match")] - pub match_: Option, /// Maximal number of results to return. #[serde(default = "_default_max_results")] pub max_results: usize, @@ -60,6 +53,12 @@ struct ResultEntry { pub term_id: String, /// The HPO term's name. pub name: String, + /// Any matching description. + pub definition: Option, + /// Any matching synonyms. + pub synonyms: Option>, + /// Any matching xref. + pub xrefs: Option>, /// The gene's associated HPO terms. #[serde(default = "Option::default", skip_serializing_if = "Option::is_none")] pub genes: Option>, @@ -95,7 +94,67 @@ impl ResultEntry { ontology: &Ontology, genes: bool, ncbi_to_hgnc: &HashMap, + index: &crate::index::Index, + doc: Option<&tantivy::Document>, ) -> Self { + let field_term_id = index + .schema() + .get_field("term_id") + .expect("field must exist"); + let field_def = index + .index() + .schema() + .get_field("def") + .expect("field must exist"); + let field_synonym = index + .index() + .schema() + .get_field("synonym") + .expect("field must exist"); + let field_xref = index + .index() + .schema() + .get_field("xref") + .expect("field must exist"); + + let searcher = index.reader().searcher(); + let doc = if let Some(doc) = doc { + doc.clone() + } else { + let query_parser = + tantivy::query::QueryParser::for_index(index.index(), vec![field_term_id]); + let query = query_parser + .parse_query(&format!("{}", term.id())) + .expect("bad term ID query"); + let top_docs = searcher + .search(&query, &tantivy::collector::TopDocs::with_limit(1)) + .expect("problemw ith term ID search"); + + searcher + .doc(top_docs[0].1) + .expect("problem with term ID query") + }; + + let definition = doc + .get_all(field_def) + .flat_map(|f| f.as_text().map(|s| s.to_string())) + .collect::>(); + let definition = definition.first().map(|s| s.clone()); + let synonyms = doc + .get_all(field_synonym) + .flat_map(|f| f.as_text().map(|s| s.to_string())) + .collect::>(); + let synonyms = if synonyms.is_empty() { + None + } else { + Some(synonyms) + }; + let xrefs = doc + .get_all(field_xref) + .flat_map(|f| f.as_text().map(|s| s.to_string())) + .collect::>(); + let xrefs = if xrefs.is_empty() { None } else { Some(xrefs) }; + let genes = if genes { let mut genes = term .gene_ids() @@ -116,6 +175,9 @@ impl ResultEntry { term_id: term.id().to_string(), name: term.name().to_string(), genes, + definition, + synonyms, + xrefs, } } } @@ -144,60 +206,114 @@ async fn handle( query: web::Query, ) -> actix_web::Result { let ontology = &data.ontology; - let match_ = query.match_.unwrap_or_default(); let mut result: Vec = Vec::new(); - if match_ == Match::Exact { - let term = if let Some(term_id) = &query.term_id { - let term_id = HpoTermId::from(term_id.clone()); - ontology.hpo(term_id) - } else if let Some(name) = &query.name { - let mut term = None; - let mut it = ontology.hpos(); - let mut tmp = it.next(); - while tmp.is_some() && term.is_none() { - if tmp.expect("checked above").name() == name { - term = tmp; - } - tmp = it.next(); - } - term - } else { - None + let field_term_id = data + .full_text_index + .index() + .schema() + .get_field("term_id") + .expect("field must exist"); + let field_alt_id = data + .full_text_index + .schema() + .get_field("alt_id") + .expect("field must exist"); + let field_name = data + .full_text_index + .index() + .schema() + .get_field("name") + .expect("field must exist"); + let field_def = data + .full_text_index + .index() + .schema() + .get_field("def") + .expect("field must exist"); + let field_synonym = data + .full_text_index + .index() + .schema() + .get_field("synonym") + .expect("field must exist"); + let field_xref = data + .full_text_index + .index() + .schema() + .get_field("xref") + .expect("field must exist"); + + if let Some(term_id) = &query.term_id { + let term_id = HpoTermId::from(term_id.clone()); + let term = ontology.hpo(term_id).ok_or_else(|| { + CustomError::new(anyhow::anyhow!("Term ID {} not found in HPO", term_id)) + })?; + result.push(ResultEntry::from_term_with_ontology( + &term, + ontology, + query.genes, + &data.ncbi_to_hgnc, + &data.full_text_index, + None, + )); + } else if let Some(name) = &query.name { + let searcher = data.full_text_index.reader().searcher(); + let query_parser = { + let mut query_parser = tantivy::query::QueryParser::for_index( + data.full_text_index.index(), + vec![ + field_term_id, + field_alt_id, + field_name, + field_def, + field_synonym, + field_xref, + ], + ); + query_parser.set_conjunction_by_default(); + 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); + query_parser }; - if let Some(term) = &term { + let index_query = query_parser.parse_query(&name).map_err(|e| { + eprintln!("{}", e); + CustomError::new(anyhow::anyhow!("Error parsing query: {}", e)) + })?; + let top_docs = searcher + .search( + &index_query, + &tantivy::collector::TopDocs::with_limit(query.max_results), + ) + .map_err(|e| CustomError::new(anyhow::anyhow!("Error searching index: {}", e)))?; + + for (_score, doc_address) in top_docs { + let retrieved_doc = searcher.doc(doc_address).map_err(|e| { + CustomError::new(anyhow::anyhow!("Error retrieving document: {}", e)) + })?; + let term_id = retrieved_doc + .get_first(field_term_id) + .ok_or_else(|| { + CustomError::new(anyhow::anyhow!("Document has no `term_id` field")) + })? + .as_text() + .unwrap_or_default(); + let term_id = HpoTermId::from(term_id.to_string()); + let term = ontology.hpo(term_id).ok_or_else(|| { + CustomError::new(anyhow::anyhow!("Term ID {} not found in HPO", term_id)) + })?; + result.push(ResultEntry::from_term_with_ontology( - term, + &term, ontology, query.genes, &data.ncbi_to_hgnc, + &data.full_text_index, + Some(&retrieved_doc), )); } - } else if let Some(name) = &query.name { - let mut it = ontology.hpos(); - let mut term = it.next(); - while term.is_some() && result.len() < query.max_results { - let term_name = term.as_ref().expect("checked above").name(); - let is_match = match query.match_.unwrap_or_default() { - Match::Prefix => term_name.starts_with(name), - Match::Suffix => term_name.ends_with(name), - Match::Contains => term_name.contains(name), - Match::Exact => panic!("cannot happen here"), - }; - if is_match { - result.push(ResultEntry::from_term_with_ontology( - term.as_ref().expect("checked above"), - ontology, - query.genes, - &data.ncbi_to_hgnc, - )); - } - - term = it.next(); - } - } - - result.sort(); + }; let result = Container { version: crate::common::Version::new(&data.ontology.hpo_version()), @@ -217,6 +333,7 @@ mod test { let ncbi_to_hgnc = crate::common::hgnc_xlink::load_ncbi_to_hgnc("tests/data/hgnc_xlink.tsv")?; let hgnc_to_ncbi = crate::common::hgnc_xlink::inverse_hashmap(&ncbi_to_hgnc); + let hpo_doc = fastobo::from_file("tests/data/hpo/hp.obo")?; let app = actix_web::test::init_service( actix_web::App::new() .app_data(actix_web::web::Data::new(crate::server::WebServerData { @@ -224,6 +341,7 @@ mod test { db: None, ncbi_to_hgnc, hgnc_to_ncbi, + full_text_index: crate::index::Index::new(hpo_doc)?, })) .service(super::handle), ) diff --git a/src/server/actix_server/mod.rs b/src/server/actix_server/mod.rs index a9f3396..6a1dd36 100644 --- a/src/server/actix_server/mod.rs +++ b/src/server/actix_server/mod.rs @@ -63,12 +63,6 @@ struct ResultHpoTerm { pub term_id: String, /// The term name. pub name: String, - /// Any matching synonyms. - pub synonyms: Option>, - /// Any matching description. - pub definition: Option, - /// Any matching xref. - pub xrefs: Option>, } /// Helper to deserialize a comma-separated list of strings. 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 9026baf..c67d073 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 @@ -18,2094 +18,5082 @@ 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 540e7ff..e8d8b66 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 @@ -18,128 +18,317 @@ 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 67cf9ac..4e31490 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 @@ -18,128 +18,317 @@ 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 148f0fe..7db3318 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 @@ -18,128 +18,317 @@ 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 9f613e9..d5d1a7f 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 @@ -18,12 +18,27 @@ 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 fda3fe1..0bb524f 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 @@ -18,12 +18,27 @@ 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_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 2d7651e..0e00349 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 @@ -17,102 +17,252 @@ 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_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 006520f..c56f79a 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 @@ -17,102 +17,252 @@ 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_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 9684c28..2b0a7d1 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 @@ -17,102 +17,252 @@ 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_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 37727be..145af4e 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 @@ -17,102 +17,252 @@ 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 2f7cc4a..e94d1aa 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 @@ -17,102 +17,252 @@ 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/mod.rs b/src/server/mod.rs index c89164b..973baeb 100644 --- a/src/server/mod.rs +++ b/src/server/mod.rs @@ -19,8 +19,8 @@ pub struct WebServerData { pub ncbi_to_hgnc: HashMap, /// Xlink map from HGNC gene ID to NCBI gene ID. pub hgnc_to_ncbi: HashMap, - /// The HPO ontology as parsed by `fastobo`. - pub hpo_doc: fastobo::ast::OboDoc, + /// The full text index over the HPO OBO document. + pub full_text_index: crate::index::Index, } /// Command line arguments for `server pheno` sub command. @@ -102,15 +102,6 @@ pub fn print_hints(args: &Args) { ); } -/// Convert ident to String. -fn ident_to_string(ident: &fastobo::ast::Ident) -> String { - match ident { - fastobo::ast::Ident::Prefixed(val) => format!("{}:{}", val.prefix(), val.local()), - fastobo::ast::Ident::Unprefixed(val) => val.as_str().to_string(), - fastobo::ast::Ident::Url(val) => val.as_str().to_string(), - } -} - /// Main entry point for `run-server` sub command. /// /// # Errors @@ -166,46 +157,18 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow: before_load_obo.elapsed() ); - let mut i = 0; - for term_frame in hpo_doc.entities().iter().flat_map(fastobo::ast::EntityFrame::as_term) { - tracing::info!("--"); - tracing::info!("id: {}", ident_to_string(term_frame.id().as_inner().as_ref())); - - for line in term_frame.clauses().iter().map(|l| l.as_inner()) { - match line { - fastobo::ast::TermClause::Name(name) => tracing::info!("name: {}", name.as_str()), - fastobo::ast::TermClause::AltId(alt_id) => - tracing::info!("alt_id: {}", ident_to_string(alt_id)), - fastobo::ast::TermClause::Def(def) => { - tracing::info!("def: {}", def.text().as_str()) - } - fastobo::ast::TermClause::Comment(comment) => { - tracing::info!("comment: {}", comment.as_str()) - } - fastobo::ast::TermClause::Synonym(synonym) => { - tracing::info!("synonym: {}", synonym.description().as_str()) - } - fastobo::ast::TermClause::Xref(xref) => tracing::info!( - "xref: {}", - ident_to_string(xref.id()) - ), - _ => (), - } - } - - tracing::info!("--"); - i += 1; - if i > 100 { - break; - } - } + tracing::info!("Indexing OBO..."); + let before_index_obo = std::time::Instant::now(); + let full_text_index = crate::index::Index::new(hpo_doc) + .map_err(|e| anyhow::anyhow!("Error indexing HPO OBO: {}", e))?; + tracing::info!("... done indexing OBO in {:?}", before_index_obo.elapsed()); let data = actix_web::web::Data::new(WebServerData { ontology, db: Some(db), ncbi_to_hgnc, hgnc_to_ncbi, - hpo_doc, + full_text_index, }); // Print the server URL and some hints (the latter: unless suppressed).