{ "cells": [ { "cell_type": "markdown", "metadata": {}, "source": [ "## Parsing rare list\n", "\n", "https://globalgenes.org/rarelist\n" ] }, { "cell_type": "code", "execution_count": 3, "metadata": {}, "outputs": [ { "name": "stderr", "output_type": "stream", "text": [ "/usr/local/lib/python3.6/site-packages/urllib3/connectionpool.py:858: InsecureRequestWarning: Unverified HTTPS request is being made. Adding certificate verification is strongly advised. See: https://urllib3.readthedocs.io/en/latest/advanced-usage.html#ssl-warnings\n", " InsecureRequestWarning)\n" ] } ], "source": [ "# Fetch HTML using requests lib and feed to bs4\n", "import requests\n", "\n", "# note their SSL certificate is not verified. Be careful!\n", "result = requests.get(\"https://globalgenes.org/rarelist\", verify=False)\n", "\n", "from bs4 import BeautifulSoup\n", "from bs4 import NavigableString\n", "soup = BeautifulSoup(result.content, 'html.parser')\n", "\n" ] }, { "cell_type": "code", "execution_count": 4, "metadata": {}, "outputs": [ { "data": { "text/plain": [ "
\n", " | left | \n", "left_label | \n", "right | \n", "right_label | \n", "left_match_type | \n", "right_match_type | \n", "left_match_val | \n", "right_match_val | \n", "score | \n", "left_simscore | \n", "... | \n", "conditional_pr_equiv | \n", "pr_subClassOf | \n", "pr_superClassOf | \n", "pr_equivalentTo | \n", "pr_other | \n", "left_novel | \n", "right_novel | \n", "left_consistent | \n", "right_consistent | \n", "equiv_clique_size | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3287 | \n", "11-beta-hydroxylase deficiency | \n", "11-beta-hydroxylase deficiency | \n", "MONDO:0008729 | \n", "congenital adrenal hyperplasia due to 11-beta-... | \n", "label | \n", "hasRelatedSynonym | \n", "11-beta-hydroxylase deficiency | \n", "11-Beta-Hydroxylase Deficiency | \n", "50.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.061581 | \n", "0.061581 | \n", "0.799654 | \n", "0.077184 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
2199 | \n", "15q13.3 microdeletion syndrome | \n", "15q13.3 microdeletion syndrome | \n", "MONDO:0012774 | \n", "chromosome 15q13.3 microdeletion syndrome | \n", "label | \n", "hasExactSynonym | \n", "15q13.3 microdeletion syndrome | \n", "15q13.3 microdeletion syndrome | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.029969 | \n", "0.029969 | \n", "0.918763 | \n", "0.021299 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
3339 | \n", "17-alpha-hydroxylase deficiency | \n", "17-alpha-hydroxylase deficiency | \n", "MONDO:0008730 | \n", "congenital adrenal hyperplasia due to 17-alpha... | \n", "label | \n", "hasRelatedSynonym | \n", "17-alpha-hydroxylase deficiency | \n", "17-Alpha-Hydroxylase Deficiency | \n", "50.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.061581 | \n", "0.061581 | \n", "0.799654 | \n", "0.077184 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
3481 | \n", "17-beta hydroxysteroid dehydrogenase 3 deficiency | \n", "17-beta hydroxysteroid dehydrogenase 3 deficiency | \n", "MONDO:0009916 | \n", "46,XY disorder of sex development due to 17-be... | \n", "label | \n", "hasExactSynonym | \n", "17-beta hydroxysteroid dehydrogenase 3 deficiency | \n", "17-beta-hydroxysteroid dehydrogenase 3 deficiency | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
2592 | \n", "17q21.31 microdeletion syndrome | \n", "17q21.31 microdeletion syndrome | \n", "MONDO:0012496 | \n", "Koolen de Vries syndrome | \n", "label | \n", "hasExactSynonym | \n", "17q21.31 microdeletion syndrome | \n", "17q21.31 microdeletion syndrome | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "0.473684 | \n", "0.168017 | \n", "0.055554 | \n", "0.749591 | \n", "0.026839 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2593 | \n", "17q21.31 microdeletion syndrome | \n", "17q21.31 microdeletion syndrome | \n", "MONDO:0018216 | \n", "17q21.31 microdeletion syndrome | \n", "label | \n", "label | \n", "17q21.31 microdeletion syndrome | \n", "17q21.31 microdeletion syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "0.526316 | \n", "0.051671 | \n", "0.108232 | \n", "0.824734 | \n", "0.015363 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2987 | \n", "18 Hydroxylase deficiency | \n", "18 Hydroxylase deficiency | \n", "MONDO:0008751 | \n", "Corticosterone methyloxidase type 1 deficiency | \n", "label | \n", "hasRelatedSynonym | \n", "18 Hydroxylase deficiency | \n", "18-Hydroxylase Deficiency | \n", "32.0 | \n", "1.000000 | \n", "... | \n", "0.355556 | \n", "0.232996 | \n", "0.289482 | \n", "0.283582 | \n", "0.193941 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
2986 | \n", "18 Hydroxylase deficiency | \n", "18 Hydroxylase deficiency | \n", "MONDO:0020489 | \n", "familial hyperreninemic hypoaldosteronism type 1 | \n", "label | \n", "hasExactSynonym | \n", "18 Hydroxylase deficiency | \n", "18-hydroxylase deficiency | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "0.644444 | \n", "0.292046 | \n", "0.210145 | \n", "0.309167 | \n", "0.188643 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
1960 | \n", "1q21.1 microdeletion syndrome | \n", "1q21.1 microdeletion syndrome | \n", "MONDO:0012914 | \n", "chromosome 1q21.1 deletion syndrome | \n", "label | \n", "hasExactSynonym | \n", "1q21.1 microdeletion syndrome | \n", "1q21.1 microdeletion syndrome | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.030109 | \n", "0.030109 | \n", "0.923042 | \n", "0.016740 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
1428 | \n", "2 4-Dienoyl-CoA reductase deficiency | \n", "2 4-Dienoyl-CoA reductase deficiency | \n", "MONDO:0014464 | \n", "progressive encephalopathy with leukodystrophy... | \n", "label | \n", "hasExactSynonym | \n", "2 4-Dienoyl-CoA reductase deficiency | \n", "2,4-dienoyl-CoA reductase deficiency | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.200803 | \n", "0.200803 | \n", "0.382559 | \n", "0.215835 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
4514 | \n", "2-Hydroxyglutaric aciduria | \n", "2-Hydroxyglutaric aciduria | \n", "MONDO:0016001 | \n", "2-hydroxyglutaric aciduria | \n", "label | \n", "label | \n", "2-Hydroxyglutaric aciduria | \n", "2-hydroxyglutaric aciduria | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
1888 | \n", "2-methyl-3-hydroxybutyric aciduria | \n", "2-methyl-3-hydroxybutyric aciduria | \n", "MONDO:0010327 | \n", "HSD10 disease | \n", "label | \n", "hasExactSynonym | \n", "2-methyl-3-hydroxybutyric aciduria | \n", "2-methyl-3-hydroxybutyric aciduria | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.029969 | \n", "0.029969 | \n", "0.918763 | \n", "0.021299 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
1202 | \n", "2-methylbutyryl-CoA dehydrogenase deficiency | \n", "2-methylbutyryl-CoA dehydrogenase deficiency | \n", "MONDO:0012392 | \n", "2-methylbutyryl-CoA dehydrogenase deficiency | \n", "label | \n", "label | \n", "2-methylbutyryl-CoA dehydrogenase deficiency | \n", "2-methylbutyryl-CoA dehydrogenase deficiency | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028795 | \n", "0.028795 | \n", "0.927169 | \n", "0.015241 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
3288 | \n", "21-hydroxylase deficiency | \n", "21-hydroxylase deficiency | \n", "MONDO:0008728 | \n", "classic congenital adrenal hyperplasia due to ... | \n", "label | \n", "hasRelatedSynonym | \n", "21-hydroxylase deficiency | \n", "21-Hydroxylase Deficiency | \n", "50.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.061581 | \n", "0.061581 | \n", "0.799654 | \n", "0.077184 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
3507 | \n", "22q11.2 deletion syndrome | \n", "22q11.2 deletion syndrome | \n", "MONDO:0008644 | \n", "velocardiofacial syndrome | \n", "label | \n", "hasExactSynonym | \n", "22q11.2 deletion syndrome | \n", "deletion 22q11.2 syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "0.134754 | \n", "0.179472 | \n", "0.287938 | \n", "0.282070 | \n", "0.250520 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "41 | \n", "
2964 | \n", "22q11.2 deletion syndrome | \n", "22q11.2 deletion syndrome | \n", "MONDO:0018923 | \n", "22q11.2 deletion syndrome | \n", "label | \n", "label | \n", "22q11.2 deletion syndrome | \n", "22q11.2 deletion syndrome | \n", "100.0 | \n", "0.166667 | \n", "... | \n", "0.115075 | \n", "0.092223 | \n", "0.035954 | \n", "0.841716 | \n", "0.030107 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "41 | \n", "
1721 | \n", "3 methylglutaconic aciduria type I | \n", "3 methylglutaconic aciduria type I | \n", "MONDO:0009610 | \n", "3-methylglutaconic aciduria type 1 | \n", "label | \n", "label | \n", "3 methylglutaconic aciduria type I | \n", "3-methylglutaconic aciduria type 1 | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.200803 | \n", "0.200803 | \n", "0.382559 | \n", "0.215835 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "9 | \n", "
1720 | \n", "3 methylglutaconic aciduria type IV | \n", "3 methylglutaconic aciduria type IV | \n", "MONDO:0009611 | \n", "3-methylglutaconic aciduria type 4 | \n", "label | \n", "label | \n", "3 methylglutaconic aciduria type IV | \n", "3-methylglutaconic aciduria type 4 | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.200803 | \n", "0.200803 | \n", "0.382559 | \n", "0.215835 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2580 | \n", "3 methylglutaconic aciduria type V | \n", "3 methylglutaconic aciduria type V | \n", "MONDO:0012435 | \n", "3-methylglutaconic aciduria type 5 | \n", "label | \n", "label | \n", "3 methylglutaconic aciduria type V | \n", "3-methylglutaconic aciduria type 5 | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.198342 | \n", "0.198342 | \n", "0.377872 | \n", "0.225444 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
1877 | \n", "3-Hydroxyisobutyric aciduria | \n", "3-Hydroxyisobutyric aciduria | \n", "MONDO:0009371 | \n", "3-hydroxyisobutyric aciduria | \n", "label | \n", "label | \n", "3-Hydroxyisobutyric aciduria | \n", "3-hydroxyisobutyric aciduria | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028795 | \n", "0.028795 | \n", "0.927169 | \n", "0.015241 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
3289 | \n", "3-beta-hydroxysteroid dehydrogenase deficiency | \n", "3-beta-hydroxysteroid dehydrogenase deficiency | \n", "MONDO:0008727 | \n", "congenital adrenal hyperplasia due to 3-beta-h... | \n", "label | \n", "hasRelatedSynonym | \n", "3-beta-hydroxysteroid dehydrogenase deficiency | \n", "3-Beta-Hydroxysteroid Dehydrogenase Deficiency | \n", "50.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.061581 | \n", "0.061581 | \n", "0.799654 | \n", "0.077184 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
3670 | \n", "3-methylglutaconic aciduria type III | \n", "3-methylglutaconic aciduria type III | \n", "MONDO:0009787 | \n", "3-methylglutaconic aciduria type 3 | \n", "label | \n", "hasExactSynonym | \n", "3-methylglutaconic aciduria type III | \n", "3-methylglutaconic aciduria type III | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.029969 | \n", "0.029969 | \n", "0.918763 | \n", "0.021299 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
755 | \n", "4-hydroxyphenylacetic aciduria | \n", "4-hydroxyphenylacetic aciduria | \n", "HP:0003607 | \n", "4-Hydroxyphenylacetic aciduria | \n", "label | \n", "label | \n", "4-hydroxyphenylacetic aciduria | \n", "4-Hydroxyphenylacetic aciduria | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "2 | \n", "
3680 | \n", "46 XX testicular disorder of sex development | \n", "46 XX testicular disorder of sex development | \n", "MONDO:0010766 | \n", "46,XX testicular disorder of sex development | \n", "label | \n", "label | \n", "46 XX testicular disorder of sex development | \n", "46,XX testicular disorder of sex development | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.198342 | \n", "0.198342 | \n", "0.377872 | \n", "0.225444 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
3136 | \n", "47 XXX syndrome | \n", "47 XXX syndrome | \n", "MONDO:0018066 | \n", "trisomy X | \n", "label | \n", "hasExactSynonym | \n", "47 XXX syndrome | \n", "47,XXX syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.226493 | \n", "0.185437 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
3166 | \n", "47 XYY syndrome | \n", "47 XYY syndrome | \n", "MONDO:0019339 | \n", "47,XYY syndrome | \n", "label | \n", "label | \n", "47 XYY syndrome | \n", "47,XYY syndrome | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.226493 | \n", "0.185437 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
4164 | \n", "49 XXXXX syndrome | \n", "49 XXXXX syndrome | \n", "MONDO:0015228 | \n", "pentasomy X | \n", "label | \n", "hasExactSynonym | \n", "49 XXXXX syndrome | \n", "49,XXXXX syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
4531 | \n", "49 XXXXY syndrome | \n", "49 XXXXY syndrome | \n", "MONDO:0019929 | \n", "49,XXXXY syndrome | \n", "label | \n", "label | \n", "49 XXXXY syndrome | \n", "49,XXXXY syndrome | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.219001 | \n", "0.179303 | \n", "0.379414 | \n", "0.222282 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
710 | \n", "5-oxoprolinase deficiency | \n", "5-oxoprolinase deficiency | \n", "MONDO:0009825 | \n", "5-oxoprolinase deficiency (disease) | \n", "label | \n", "hasExactSynonym | \n", "5-oxoprolinase deficiency | \n", "5-oxoprolinase deficiency | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.030109 | \n", "0.030109 | \n", "0.923042 | \n", "0.016740 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
709 | \n", "5-oxoprolinase deficiency | \n", "5-oxoprolinase deficiency | \n", "HP:0040142 | \n", "5-oxoprolinase deficiency | \n", "label | \n", "label | \n", "5-oxoprolinase deficiency | \n", "5-oxoprolinase deficiency | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "... | \n", "
2067 | \n", "Wrinkly skin syndrome | \n", "Wrinkly skin syndrome | \n", "MONDO:0010208 | \n", "Wrinkly skin syndrome | \n", "label | \n", "label | \n", "Wrinkly skin syndrome | \n", "Wrinkly skin syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
2105 | \n", "X-linked adrenal hypoplasia congenita | \n", "X-linked adrenal hypoplasia congenita | \n", "MONDO:0010264 | \n", "X-linked adrenal hypoplasia congenita | \n", "label | \n", "label | \n", "X-linked adrenal hypoplasia congenita | \n", "X-linked adrenal hypoplasia congenita | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028738 | \n", "0.028738 | \n", "0.925323 | \n", "0.017201 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
1552 | \n", "X-linked hypohidrotic ectodermal dysplasia | \n", "X-linked hypohidrotic ectodermal dysplasia | \n", "MONDO:0010585 | \n", "X-linked hypohidrotic ectodermal dysplasia | \n", "label | \n", "label | \n", "X-linked hypohidrotic ectodermal dysplasia | \n", "X-linked hypohidrotic ectodermal dysplasia | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028738 | \n", "0.028738 | \n", "0.925323 | \n", "0.017201 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "4 | \n", "
3900 | \n", "X-linked ichthyosis | \n", "X-linked ichthyosis | \n", "MONDO:0010622 | \n", "recessive X-linked ichthyosis | \n", "label | \n", "hasExactSynonym | \n", "X-linked ichthyosis | \n", "X-linked ichthyosis | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.029886 | \n", "0.029886 | \n", "0.916224 | \n", "0.024003 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
1968 | \n", "X-linked severe combined immunodeficiency | \n", "X-linked severe combined immunodeficiency | \n", "MONDO:0010315 | \n", "gamma chain deficiency | \n", "label | \n", "hasExactSynonym | \n", "X-linked severe combined immunodeficiency | \n", "X-Linked Severe Combined Immunodeficiency | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.029969 | \n", "0.029969 | \n", "0.918763 | \n", "0.021299 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2543 | \n", "XFE progeroid syndrome | \n", "XFE progeroid syndrome | \n", "MONDO:0012590 | \n", "XFE progeroid syndrome | \n", "label | \n", "label | \n", "XFE progeroid syndrome | \n", "XFE progeroid syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
3037 | \n", "XK aprosencephaly | \n", "XK aprosencephaly | \n", "MONDO:0008811 | \n", "XK aprosencephaly | \n", "label | \n", "label | \n", "XK aprosencephaly | \n", "XK aprosencephaly | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2070 | \n", "Xanthinuria type 1 | \n", "Xanthinuria type 1 | \n", "MONDO:0010209 | \n", "xanthinuria type I | \n", "label | \n", "label | \n", "Xanthinuria type 1 | \n", "xanthinuria type I | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
2414 | \n", "Xanthinuria type 2 | \n", "Xanthinuria type 2 | \n", "MONDO:0011346 | \n", "xanthinuria type II | \n", "label | \n", "label | \n", "Xanthinuria type 2 | \n", "xanthinuria type II | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
1509 | \n", "Xanthogranulomatous cholecystitis | \n", "Xanthogranulomatous cholecystitis | \n", "MONDO:0004875 | \n", "xanthogranulomatous cholecystitis | \n", "label | \n", "label | \n", "Xanthogranulomatous cholecystitis | \n", "xanthogranulomatous cholecystitis | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028795 | \n", "0.028795 | \n", "0.927169 | \n", "0.015241 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2867 | \n", "Xeroderma pigmentosum | \n", "Xeroderma pigmentosum | \n", "MONDO:0019600 | \n", "xeroderma pigmentosum | \n", "label | \n", "label | \n", "Xeroderma pigmentosum | \n", "xeroderma pigmentosum | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
2077 | \n", "Xeroderma pigmentosum variant type | \n", "Xeroderma pigmentosum variant type | \n", "MONDO:0010214 | \n", "xeroderma pigmentosum variant type | \n", "label | \n", "label | \n", "Xeroderma pigmentosum variant type | \n", "xeroderma pigmentosum variant type | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
3151 | \n", "Yaws | \n", "Yaws | \n", "MONDO:0006019 | \n", "yaws | \n", "label | \n", "label | \n", "Yaws | \n", "yaws | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.051830 | \n", "0.051830 | \n", "0.874531 | \n", "0.021809 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "10 | \n", "
3080 | \n", "Yellow fever | \n", "Yellow fever | \n", "MONDO:0020502 | \n", "yellow fever | \n", "label | \n", "label | \n", "Yellow fever | \n", "yellow fever | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "8 | \n", "
4539 | \n", "Yellow nail syndrome | \n", "Yellow nail syndrome | \n", "MONDO:0007921 | \n", "yellow nail syndrome | \n", "label | \n", "label | \n", "Yellow nail syndrome | \n", "yellow nail syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "9 | \n", "
2555 | \n", "Yemenite deaf-blind hypopigmentation syndrome | \n", "Yemenite deaf-blind hypopigmentation syndrome | \n", "MONDO:0011133 | \n", "Deaf blind hypopigmentation syndrome, Yemenite... | \n", "label | \n", "hasExactSynonym | \n", "Yemenite deaf-blind hypopigmentation syndrome | \n", "Yemenite deaf-blind hypopigmentation syndrome | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.030109 | \n", "0.030109 | \n", "0.923042 | \n", "0.016740 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
4262 | \n", "Yolk sac tumor | \n", "Yolk sac tumor | \n", "MONDO:0005744 | \n", "yolk sac tumor | \n", "label | \n", "label | \n", "Yolk sac tumor | \n", "yolk sac tumor | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
3775 | \n", "Yorifuji Okuno syndrome | \n", "Yorifuji Okuno syndrome | \n", "MONDO:0010802 | \n", "pancreatic hypoplasia-diabetes-congenital hear... | \n", "label | \n", "hasExactSynonym | \n", "Yorifuji Okuno syndrome | \n", "Yorifuji-Okuno syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
4330 | \n", "Young Hughes syndrome | \n", "Young Hughes syndrome | \n", "MONDO:0017614 | \n", "X-linked intellectual disability-hypogonadism-... | \n", "label | \n", "hasExactSynonym | \n", "Young Hughes syndrome | \n", "Young-Hughes syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.200803 | \n", "0.200803 | \n", "0.382559 | \n", "0.215835 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "4 | \n", "
2384 | \n", "Young Simpson syndrome | \n", "Young Simpson syndrome | \n", "MONDO:0011365 | \n", "blepharophimosis-intellectual disability syndr... | \n", "label | \n", "hasRelatedSynonym | \n", "Young Simpson syndrome | \n", "Young-Simpson Syndrome | \n", "32.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.200803 | \n", "0.200803 | \n", "0.382559 | \n", "0.215835 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
2059 | \n", "Young syndrome | \n", "Young syndrome | \n", "MONDO:0010220 | \n", "young syndrome | \n", "label | \n", "label | \n", "Young syndrome | \n", "young syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
2892 | \n", "Yunis Varon syndrome | \n", "Yunis Varon syndrome | \n", "MONDO:0008995 | \n", "Yunis-Varon syndrome | \n", "label | \n", "label | \n", "Yunis Varon syndrome | \n", "Yunis-Varon syndrome | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.062922 | \n", "0.062922 | \n", "0.817066 | \n", "0.057090 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "7 | \n", "
1473 | \n", "Zechi Ceide syndrome | \n", "Zechi Ceide syndrome | \n", "MONDO:0013036 | \n", "Zechi-Ceide syndrome | \n", "label | \n", "label | \n", "Zechi Ceide syndrome | \n", "Zechi-Ceide syndrome | \n", "64.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
2866 | \n", "Zellweger syndrome | \n", "Zellweger syndrome | \n", "MONDO:0019609 | \n", "Zellweger syndrome | \n", "label | \n", "label | \n", "Zellweger syndrome | \n", "Zellweger syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028758 | \n", "0.028758 | \n", "0.925963 | \n", "0.016522 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
657 | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison syndrome | \n", "MONDO:0006020 | \n", "Zollinger-Ellison syndrome (disease) | \n", "label | \n", "hasExactSynonym | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison Syndrome | \n", "90.0 | \n", "1.000000 | \n", "... | \n", "0.473684 | \n", "0.075251 | \n", "0.062185 | \n", "0.839062 | \n", "0.023503 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "11 | \n", "
655 | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison syndrome | \n", "HP:0002044 | \n", "Zollinger-Ellison syndrome | \n", "label | \n", "label | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.028891 | \n", "0.028891 | \n", "0.930268 | \n", "0.011949 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "11 | \n", "
656 | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison syndrome | \n", "MONDO:0019610 | \n", "Zollinger-Ellison syndrome | \n", "label | \n", "label | \n", "Zollinger-Ellison syndrome | \n", "Zollinger-Ellison syndrome | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "0.526316 | \n", "0.055295 | \n", "0.045694 | \n", "0.882570 | \n", "0.016441 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "11 | \n", "
3377 | \n", "Zori Stalker Williams syndrome | \n", "Zori Stalker Williams syndrome | \n", "MONDO:0010883 | \n", "pectus excavatum-macrocephaly-dysplastic nails... | \n", "label | \n", "hasExactSynonym | \n", "Zori Stalker Williams syndrome | \n", "Zori-Stalker-Williams syndrome | \n", "58.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.205965 | \n", "0.205965 | \n", "0.392394 | \n", "0.195675 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "5 | \n", "
2061 | \n", "Zunich neuroectodermal syndrome | \n", "Zunich neuroectodermal syndrome | \n", "MONDO:0010221 | \n", "CHIME syndrome | \n", "label | \n", "hasRelatedSynonym | \n", "Zunich neuroectodermal syndrome | \n", "Zunich Neuroectodermal Syndrome | \n", "50.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.061951 | \n", "0.061951 | \n", "0.804454 | \n", "0.071645 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "6 | \n", "
3649 | \n", "Zygomycosis | \n", "Zygomycosis | \n", "MONDO:0019136 | \n", "zygomycosis | \n", "label | \n", "label | \n", "Zygomycosis | \n", "zygomycosis | \n", "100.0 | \n", "1.000000 | \n", "... | \n", "1.000000 | \n", "0.051830 | \n", "0.051830 | \n", "0.874531 | \n", "0.021809 | \n", "True | \n", "True | \n", "False | \n", "False | \n", "9 | \n", "
4558 rows × 22 columns
\n", "\n", " | id | \n", "label | \n", "mapped_equivs | \n", "
---|---|---|---|
18057 | \n", "16p11.2 deletion syndrome | \n", "16p11.2 deletion syndrome | \n", "\n", " |
105646 | \n", "2-Methylacetoacetyl CoA thiolase deficiency | \n", "2-Methylacetoacetyl CoA thiolase deficiency | \n", "\n", " |
41905 | \n", "2-hydroxyethyl methacrylate sensitization | \n", "2-hydroxyethyl methacrylate sensitization | \n", "\n", " |
29133 | \n", "22q11.2 duplication syndrome | \n", "22q11.2 duplication syndrome | \n", "\n", " |
100428 | \n", "22q13.3 deletion syndrome | \n", "22q13.3 deletion syndrome | \n", "\n", " |
96122 | \n", "2q37 deletion syndrome | \n", "2q37 deletion syndrome | \n", "\n", " |
88482 | \n", "3 Methylcrotonyl-CoA carboxylase 1 deficiency | \n", "3 Methylcrotonyl-CoA carboxylase 1 deficiency | \n", "\n", " |
34501 | \n", "3 alpha methylcrotonyl-CoA carboxylase 2 defic... | \n", "3 alpha methylcrotonyl-CoA carboxylase 2 defic... | \n", "\n", " |
85670 | \n", "3-alpha hydroxyacyl-CoA dehydrogenase deficiency | \n", "3-alpha hydroxyacyl-CoA dehydrogenase deficiency | \n", "\n", " |
77929 | \n", "3p deletion syndrome | \n", "3p deletion syndrome | \n", "\n", " |
95095 | \n", "46 XX Gonadal dysgenesis epibulbar dermoid | \n", "46 XX Gonadal dysgenesis epibulbar dermoid | \n", "\n", " |
90032 | \n", "5-Nucleotidase syndrome | \n", "5-Nucleotidase syndrome | \n", "\n", " |
74374 | \n", "6 alpha mercaptopurine sensitivity | \n", "6 alpha mercaptopurine sensitivity | \n", "\n", " |
51486 | \n", "ACTH-independent macronodular adrenal hyperplasia | \n", "ACTH-independent macronodular adrenal hyperplasia | \n", "\n", " |
26334 | \n", "AIDS Dementia Complex | \n", "AIDS Dementia Complex | \n", "\n", " |
12881 | \n", "AIDS dysmorphic syndrome | \n", "AIDS dysmorphic syndrome | \n", "\n", " |
77859 | \n", "ALK+ histiocytosis | \n", "ALK+ histiocytosis | \n", "\n", " |
26275 | \n", "ALS-like syndrome of encephalomyopathy | \n", "ALS-like syndrome of encephalomyopathy | \n", "\n", " |
60831 | \n", "Abderhalden Kaufmann Lignac syndrome | \n", "Abderhalden Kaufmann Lignac syndrome | \n", "\n", " |
10975 | \n", "Abdominal chemodectomas with cutaneous angioli... | \n", "Abdominal chemodectomas with cutaneous angioli... | \n", "\n", " |
108580 | \n", "Abdominal cystic lymphangioma | \n", "Abdominal cystic lymphangioma | \n", "\n", " |
94496 | \n", "Aberrant subclavian artery | \n", "Aberrant subclavian artery | \n", "\n", " |
93116 | \n", "Abidi X-linked mental retardation syndrome | \n", "Abidi X-linked mental retardation syndrome | \n", "\n", " |
40555 | \n", "Absence of fingerprints congenital milia | \n", "Absence of fingerprints congenital milia | \n", "\n", " |
7562 | \n", "Absence of gluteal muscle | \n", "Absence of gluteal muscle | \n", "\n", " |
6259 | \n", "Absence of tibia with polydactyly | \n", "Absence of tibia with polydactyly | \n", "\n", " |
75137 | \n", "Absent T lymphocytes | \n", "Absent T lymphocytes | \n", "\n", " |
49480 | \n", "Absent breasts and nipples | \n", "Absent breasts and nipples | \n", "\n", " |
56640 | \n", "Abuse dwarfism syndrome | \n", "Abuse dwarfism syndrome | \n", "\n", " |
8138 | \n", "Acanthamoeba infection | \n", "Acanthamoeba infection | \n", "\n", " |
... | \n", "... | \n", "... | \n", "... | \n", "
25120 | \n", "http://www.orpha.net/ORDO/Orphanet_99948 | \n", "None | \n", "[MONDO:0008961] | \n", "
21037 | \n", "http://www.orpha.net/ORDO/Orphanet_99949 | \n", "None | \n", "[MONDO:0011113] | \n", "
17454 | \n", "http://www.orpha.net/ORDO/Orphanet_99950 | \n", "None | \n", "[MONDO:0011085] | \n", "
20779 | \n", "http://www.orpha.net/ORDO/Orphanet_99951 | \n", "None | \n", "[MONDO:0011527] | \n", "
70495 | \n", "http://www.orpha.net/ORDO/Orphanet_99952 | \n", "None | \n", "[] | \n", "
94070 | \n", "http://www.orpha.net/ORDO/Orphanet_99953 | \n", "None | \n", "[MONDO:0011534] | \n", "
82089 | \n", "http://www.orpha.net/ORDO/Orphanet_99954 | \n", "None | \n", "[] | \n", "
106842 | \n", "http://www.orpha.net/ORDO/Orphanet_99955 | \n", "None | \n", "[MONDO:0011066] | \n", "
99610 | \n", "http://www.orpha.net/ORDO/Orphanet_99956 | \n", "None | \n", "[MONDO:0011475] | \n", "
10190 | \n", "http://www.orpha.net/ORDO/Orphanet_99960 | \n", "None | \n", "[] | \n", "
100192 | \n", "http://www.orpha.net/ORDO/Orphanet_99961 | \n", "None | \n", "[] | \n", "
30752 | \n", "http://www.orpha.net/ORDO/Orphanet_99965 | \n", "None | \n", "[] | \n", "
51288 | \n", "http://www.orpha.net/ORDO/Orphanet_99966 | \n", "None | \n", "[] | \n", "
24502 | \n", "http://www.orpha.net/ORDO/Orphanet_99967 | \n", "None | \n", "[] | \n", "
102919 | \n", "http://www.orpha.net/ORDO/Orphanet_99969 | \n", "None | \n", "[] | \n", "
79112 | \n", "http://www.orpha.net/ORDO/Orphanet_99970 | \n", "None | \n", "[] | \n", "
17426 | \n", "http://www.orpha.net/ORDO/Orphanet_99971 | \n", "None | \n", "[] | \n", "
15059 | \n", "http://www.orpha.net/ORDO/Orphanet_99976 | \n", "None | \n", "[] | \n", "
65846 | \n", "http://www.orpha.net/ORDO/Orphanet_99977 | \n", "None | \n", "[] | \n", "
6381 | \n", "http://www.orpha.net/ORDO/Orphanet_99978 | \n", "None | \n", "[MONDO:0003345] | \n", "
3759 | \n", "http://www.orpha.net/ORDO/Orphanet_99981 | \n", "None | \n", "[] | \n", "
3847 | \n", "http://www.orpha.net/ORDO/Orphanet_99983 | \n", "None | \n", "[] | \n", "
85668 | \n", "http://www.orpha.net/ORDO/Orphanet_99989 | \n", "None | \n", "[] | \n", "
4382 | \n", "http://www.orpha.net/ORDO/Orphanet_99990 | \n", "None | \n", "[] | \n", "
45866 | \n", "http://www.orpha.net/ORDO/Orphanet_99991 | \n", "None | \n", "[] | \n", "
21041 | \n", "http://www.orpha.net/ORDO/Orphanet_99994 | \n", "None | \n", "[] | \n", "
65561 | \n", "http://www.orpha.net/ORDO/Orphanet_99995 | \n", "None | \n", "[] | \n", "
43256 | \n", "http://www.w3.org/2000/01/rdf-schema#seeAlso | \n", "seeAlso | \n", "\n", " |
21673 | \n", "http://www.w3.org/2002/07/owl#Thing | \n", "None | \n", "\n", " |
15400 | \n", "http://www.w3.org/2002/07/owl#topObjectProperty | \n", "None | \n", "\n", " |
110240 rows × 3 columns
\n", "