notebooks/Parse_RareList.ipynb

{
 "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": [
       "<title>Rare Disease List</title>"
      ]
     },
     "execution_count": 4,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "# check\n",
    "soup.title"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 5,
   "metadata": {},
   "outputs": [],
   "source": [
    "# write formatted html to file\n",
    "# (not used: this is just a useful side effect for exploration)\n",
    "f=open('rarelist.html','w')\n",
    "f.write(soup.prettify())\n",
    "f.close()"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 6,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/plain": [
       "['Aagenaes syndrome',\n",
       " 'Aarskog syndrome',\n",
       " 'Aase Smith syndrome',\n",
       " 'ABCD syndrome',\n",
       " 'Abderhalden Kaufmann Lignac syndrome',\n",
       " 'Abdominal aortic aneurysm',\n",
       " 'Abdominal chemodectomas with cutaneous angiolipomas',\n",
       " 'Abdominal cystic lymphangioma',\n",
       " 'Abdominal obesity metabolic syndrome',\n",
       " 'Aberrant subclavian artery',\n",
       " 'Abetalipoproteinemia',\n",
       " 'Abidi X-linked mental retardation syndrome',\n",
       " 'Ablepharon macrostomia syndrome',\n",
       " \"Abrikosov's tumor\",\n",
       " 'Abruzzo Erickson syndrome',\n",
       " 'Absence of fingerprints congenital milia',\n",
       " 'Absence of gluteal muscle',\n",
       " 'Absence of septum pellucidum',\n",
       " 'Absence of Tibia',\n",
       " 'Absence of tibia with polydactyly']"
      ]
     },
     "execution_count": 6,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "# use bs4 to extract names from HTML\n",
    "\n",
    "names = []  ## all disease names found\n",
    "name2url = {}  ## mapping of names to URLs\n",
    "\n",
    "h5s = soup.find_all(\"h5\")\n",
    "for h5 in h5s:\n",
    "    ul = h5.find_next_sibling('ul')\n",
    "    for li in ul.findAll('li'):\n",
    "        if len(li.contents) == 0:\n",
    "            continue\n",
    "        n = li.contents[0]\n",
    "        if n is None:\n",
    "            print('BAD: {}'.format(li))\n",
    "            continue\n",
    "        if not isinstance(n, NavigableString):\n",
    "            n = n.contents[0]\n",
    "            if li.select('a'):\n",
    "                url = li.a['href']\n",
    "            \n",
    "                name2url[n] = url\n",
    "        names.append(n)\n",
    "        \n",
    "# show the first 20 for sanity checking\n",
    "names[0:20]"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 7,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/plain": [
       "[('Acute disseminated encephalomyelitis', 'http://ulf.org/'),\n",
       " ('Acute hemorrhagic leukoencephalitis', 'http://ulf.org/'),\n",
       " ('Adrenoleukodystrophy X-linked', 'http://ulf.org/'),\n",
       " ('Adrenomyeloneuropathy', 'http://ulf.org/'),\n",
       " ('Aicardi-Goutieres syndrome', 'http://ulf.org/'),\n",
       " ('Alexander disease', 'http://ulf.org/'),\n",
       " ('Alkaptonuria', 'http://www.alkaptonuria.info/'),\n",
       " ('Alpers syndrome',\n",
       "  'http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7929671/k.BDF0/Home.htm'),\n",
       " ('Alzheimer disease familial', 'http://www.mitoaction.org/'),\n",
       " ('Alzheimer disease type 1', 'http://www.mitoaction.org/')]"
      ]
     },
     "execution_count": 7,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "## sanity check URL mapping\n",
    "list(name2url.items())[0:10]"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 8,
   "metadata": {},
   "outputs": [],
   "source": [
    "import csv\n",
    "with open('rare-list.tsv', 'w', newline='') as csvfile:\n",
    "    spamwriter = csv.writer(csvfile, delimiter='\\t')\n",
    "    for n in names:\n",
    "        spamwriter.writerow([n, name2url.get(n)])"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 9,
   "metadata": {},
   "outputs": [
    {
     "name": "stderr",
     "output_type": "stream",
     "text": [
      "/usr/local/lib/python3.6/site-packages/cachier/mongo_core.py:24: UserWarning: Cachier warning: pymongo was not found. MongoDB cores will not work.\n",
      "  \"Cachier warning: pymongo was not found. MongoDB cores will not work.\")\n"
     ]
    }
   ],
   "source": [
    "## use ontobio lib for fetching ontologies and lexical mapping\n",
    "from ontobio import OntologyFactory"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 10,
   "metadata": {},
   "outputs": [],
   "source": [
    "ofa = OntologyFactory()"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 11,
   "metadata": {},
   "outputs": [],
   "source": [
    "hp = ofa.create('obo:hp')"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 12,
   "metadata": {},
   "outputs": [],
   "source": [
    "mondo = ofa.create('obo:mondo')"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 13,
   "metadata": {},
   "outputs": [],
   "source": [
    "from ontobio.lexmap import LexicalMapEngine\n",
    "lexmap = LexicalMapEngine()\n"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 14,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/plain": [
       "rare handle: None meta: None"
      ]
     },
     "execution_count": 14,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "# Quick hack to make a degenerate 'ontology' from the list of names\n",
    "from ontobio import Ontology\n",
    "\n",
    "def ont_from_names(names):\n",
    "    ont = Ontology(id='rare')\n",
    "    for n in names:\n",
    "        ## use name as ID\n",
    "        ont.add_node(n, n)\n",
    "    return ont\n",
    "        \n",
    "rare = ont_from_names(names)\n",
    "rare"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 15,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/plain": [
       "['Aagenaes syndrome',\n",
       " 'Aarskog syndrome',\n",
       " 'Aase Smith syndrome',\n",
       " 'ABCD syndrome',\n",
       " 'Abderhalden Kaufmann Lignac syndrome',\n",
       " 'Abdominal aortic aneurysm',\n",
       " 'Abdominal chemodectomas with cutaneous angiolipomas',\n",
       " 'Abdominal cystic lymphangioma',\n",
       " 'Abdominal obesity metabolic syndrome',\n",
       " 'Aberrant subclavian artery']"
      ]
     },
     "execution_count": 15,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "## quick inspection\n",
    "rare.nodes()[0:10]"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 16,
   "metadata": {},
   "outputs": [
    {
     "name": "stderr",
     "output_type": "stream",
     "text": [
      "WARNING:root:Incomplete syn: HP:0000991 \"\" hasRelatedSynonym None [] 1.0\n",
      "WARNING:root:Incomplete syn: HP:0012377 \"\" hasRelatedSynonym None [] 1.0\n",
      "WARNING:root:Incomplete syn: HP:0000510 \"\" hasRelatedSynonym None [] 1.0\n",
      "WARNING:root:Ignoring suspicous synonym: UBERON:0002722 \"4\" hasBroadSynonym None ['http://uri.neuinfo.org/nif/nifstd/birnlex_1488', 'NIFSTD:NeuroNames_abbrevSource'] 1.0\n",
      "WARNING:root:Ignoring suspicous synonym: UBERON:0001715 \"3\" hasBroadSynonym None ['http://uri.neuinfo.org/nif/nifstd/birnlex_1240', 'NIFSTD:NeuroNames_abbrevSource'] 1.0\n"
     ]
    }
   ],
   "source": [
    "## index the 3 ontologies\n",
    "lexmap.index_ontology(hp)\n",
    "lexmap.index_ontology(mondo)\n",
    "lexmap.index_ontology(rare)"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 17,
   "metadata": {},
   "outputs": [],
   "source": [
    "## CONFIGURE\n",
    "## we will map R to mondo and hp separately\n",
    "lexmap.ontology_pairs = [(rare.id, mondo.id), (rare.id, hp.id)]"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 18,
   "metadata": {},
   "outputs": [],
   "source": [
    "# align\n",
    "g = lexmap.get_xref_graph()"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 19,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/html": [
       "<div>\n",
       "<style>\n",
       "    .dataframe thead tr:only-child th {\n",
       "        text-align: right;\n",
       "    }\n",
       "\n",
       "    .dataframe thead th {\n",
       "        text-align: left;\n",
       "    }\n",
       "\n",
       "    .dataframe tbody tr th {\n",
       "        vertical-align: top;\n",
       "    }\n",
       "</style>\n",
       "<table border=\"1\" class=\"dataframe\">\n",
       "  <thead>\n",
       "    <tr style=\"text-align: right;\">\n",
       "      <th></th>\n",
       "      <th>left</th>\n",
       "      <th>left_label</th>\n",
       "      <th>right</th>\n",
       "      <th>right_label</th>\n",
       "      <th>left_match_type</th>\n",
       "      <th>right_match_type</th>\n",
       "      <th>left_match_val</th>\n",
       "      <th>right_match_val</th>\n",
       "      <th>score</th>\n",
       "      <th>left_simscore</th>\n",
       "      <th>...</th>\n",
       "      <th>conditional_pr_equiv</th>\n",
       "      <th>pr_subClassOf</th>\n",
       "      <th>pr_superClassOf</th>\n",
       "      <th>pr_equivalentTo</th>\n",
       "      <th>pr_other</th>\n",
       "      <th>left_novel</th>\n",
       "      <th>right_novel</th>\n",
       "      <th>left_consistent</th>\n",
       "      <th>right_consistent</th>\n",
       "      <th>equiv_clique_size</th>\n",
       "    </tr>\n",
       "  </thead>\n",
       "  <tbody>\n",
       "    <tr>\n",
       "      <th>3287</th>\n",
       "      <td>11-beta-hydroxylase deficiency</td>\n",
       "      <td>11-beta-hydroxylase deficiency</td>\n",
       "      <td>MONDO:0008729</td>\n",
       "      <td>congenital adrenal hyperplasia due to 11-beta-...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>11-beta-hydroxylase deficiency</td>\n",
       "      <td>11-Beta-Hydroxylase Deficiency</td>\n",
       "      <td>50.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.799654</td>\n",
       "      <td>0.077184</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2199</th>\n",
       "      <td>15q13.3 microdeletion syndrome</td>\n",
       "      <td>15q13.3 microdeletion syndrome</td>\n",
       "      <td>MONDO:0012774</td>\n",
       "      <td>chromosome 15q13.3 microdeletion syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>15q13.3 microdeletion syndrome</td>\n",
       "      <td>15q13.3 microdeletion syndrome</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.918763</td>\n",
       "      <td>0.021299</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3339</th>\n",
       "      <td>17-alpha-hydroxylase deficiency</td>\n",
       "      <td>17-alpha-hydroxylase deficiency</td>\n",
       "      <td>MONDO:0008730</td>\n",
       "      <td>congenital adrenal hyperplasia due to 17-alpha...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>17-alpha-hydroxylase deficiency</td>\n",
       "      <td>17-Alpha-Hydroxylase Deficiency</td>\n",
       "      <td>50.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.799654</td>\n",
       "      <td>0.077184</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3481</th>\n",
       "      <td>17-beta hydroxysteroid dehydrogenase 3 deficiency</td>\n",
       "      <td>17-beta hydroxysteroid dehydrogenase 3 deficiency</td>\n",
       "      <td>MONDO:0009916</td>\n",
       "      <td>46,XY disorder of sex development due to 17-be...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>17-beta hydroxysteroid dehydrogenase 3 deficiency</td>\n",
       "      <td>17-beta-hydroxysteroid dehydrogenase 3 deficiency</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2592</th>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>MONDO:0012496</td>\n",
       "      <td>Koolen de Vries syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.473684</td>\n",
       "      <td>0.168017</td>\n",
       "      <td>0.055554</td>\n",
       "      <td>0.749591</td>\n",
       "      <td>0.026839</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2593</th>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>MONDO:0018216</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>17q21.31 microdeletion syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.526316</td>\n",
       "      <td>0.051671</td>\n",
       "      <td>0.108232</td>\n",
       "      <td>0.824734</td>\n",
       "      <td>0.015363</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2987</th>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>MONDO:0008751</td>\n",
       "      <td>Corticosterone methyloxidase type 1 deficiency</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>18-Hydroxylase Deficiency</td>\n",
       "      <td>32.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.355556</td>\n",
       "      <td>0.232996</td>\n",
       "      <td>0.289482</td>\n",
       "      <td>0.283582</td>\n",
       "      <td>0.193941</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2986</th>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>MONDO:0020489</td>\n",
       "      <td>familial hyperreninemic hypoaldosteronism type 1</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>18 Hydroxylase deficiency</td>\n",
       "      <td>18-hydroxylase deficiency</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.644444</td>\n",
       "      <td>0.292046</td>\n",
       "      <td>0.210145</td>\n",
       "      <td>0.309167</td>\n",
       "      <td>0.188643</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1960</th>\n",
       "      <td>1q21.1 microdeletion syndrome</td>\n",
       "      <td>1q21.1 microdeletion syndrome</td>\n",
       "      <td>MONDO:0012914</td>\n",
       "      <td>chromosome 1q21.1 deletion syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>1q21.1 microdeletion syndrome</td>\n",
       "      <td>1q21.1 microdeletion syndrome</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.923042</td>\n",
       "      <td>0.016740</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1428</th>\n",
       "      <td>2 4-Dienoyl-CoA reductase deficiency</td>\n",
       "      <td>2 4-Dienoyl-CoA reductase deficiency</td>\n",
       "      <td>MONDO:0014464</td>\n",
       "      <td>progressive encephalopathy with leukodystrophy...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>2 4-Dienoyl-CoA reductase deficiency</td>\n",
       "      <td>2,4-dienoyl-CoA reductase deficiency</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.382559</td>\n",
       "      <td>0.215835</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4514</th>\n",
       "      <td>2-Hydroxyglutaric aciduria</td>\n",
       "      <td>2-Hydroxyglutaric aciduria</td>\n",
       "      <td>MONDO:0016001</td>\n",
       "      <td>2-hydroxyglutaric aciduria</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>2-Hydroxyglutaric aciduria</td>\n",
       "      <td>2-hydroxyglutaric aciduria</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1888</th>\n",
       "      <td>2-methyl-3-hydroxybutyric aciduria</td>\n",
       "      <td>2-methyl-3-hydroxybutyric aciduria</td>\n",
       "      <td>MONDO:0010327</td>\n",
       "      <td>HSD10 disease</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>2-methyl-3-hydroxybutyric aciduria</td>\n",
       "      <td>2-methyl-3-hydroxybutyric aciduria</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.918763</td>\n",
       "      <td>0.021299</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1202</th>\n",
       "      <td>2-methylbutyryl-CoA dehydrogenase deficiency</td>\n",
       "      <td>2-methylbutyryl-CoA dehydrogenase deficiency</td>\n",
       "      <td>MONDO:0012392</td>\n",
       "      <td>2-methylbutyryl-CoA dehydrogenase deficiency</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>2-methylbutyryl-CoA dehydrogenase deficiency</td>\n",
       "      <td>2-methylbutyryl-CoA dehydrogenase deficiency</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.927169</td>\n",
       "      <td>0.015241</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3288</th>\n",
       "      <td>21-hydroxylase deficiency</td>\n",
       "      <td>21-hydroxylase deficiency</td>\n",
       "      <td>MONDO:0008728</td>\n",
       "      <td>classic congenital adrenal hyperplasia due to ...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>21-hydroxylase deficiency</td>\n",
       "      <td>21-Hydroxylase Deficiency</td>\n",
       "      <td>50.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.799654</td>\n",
       "      <td>0.077184</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3507</th>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>MONDO:0008644</td>\n",
       "      <td>velocardiofacial syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>deletion 22q11.2 syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.134754</td>\n",
       "      <td>0.179472</td>\n",
       "      <td>0.287938</td>\n",
       "      <td>0.282070</td>\n",
       "      <td>0.250520</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>41</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2964</th>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>MONDO:0018923</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>22q11.2 deletion syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>0.166667</td>\n",
       "      <td>...</td>\n",
       "      <td>0.115075</td>\n",
       "      <td>0.092223</td>\n",
       "      <td>0.035954</td>\n",
       "      <td>0.841716</td>\n",
       "      <td>0.030107</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>41</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1721</th>\n",
       "      <td>3 methylglutaconic aciduria type I</td>\n",
       "      <td>3 methylglutaconic aciduria type I</td>\n",
       "      <td>MONDO:0009610</td>\n",
       "      <td>3-methylglutaconic aciduria type 1</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>3 methylglutaconic aciduria type I</td>\n",
       "      <td>3-methylglutaconic aciduria type 1</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.382559</td>\n",
       "      <td>0.215835</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>9</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1720</th>\n",
       "      <td>3 methylglutaconic aciduria type IV</td>\n",
       "      <td>3 methylglutaconic aciduria type IV</td>\n",
       "      <td>MONDO:0009611</td>\n",
       "      <td>3-methylglutaconic aciduria type 4</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>3 methylglutaconic aciduria type IV</td>\n",
       "      <td>3-methylglutaconic aciduria type 4</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.382559</td>\n",
       "      <td>0.215835</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2580</th>\n",
       "      <td>3 methylglutaconic aciduria type V</td>\n",
       "      <td>3 methylglutaconic aciduria type V</td>\n",
       "      <td>MONDO:0012435</td>\n",
       "      <td>3-methylglutaconic aciduria type 5</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>3 methylglutaconic aciduria type V</td>\n",
       "      <td>3-methylglutaconic aciduria type 5</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.198342</td>\n",
       "      <td>0.198342</td>\n",
       "      <td>0.377872</td>\n",
       "      <td>0.225444</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1877</th>\n",
       "      <td>3-Hydroxyisobutyric aciduria</td>\n",
       "      <td>3-Hydroxyisobutyric aciduria</td>\n",
       "      <td>MONDO:0009371</td>\n",
       "      <td>3-hydroxyisobutyric aciduria</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>3-Hydroxyisobutyric aciduria</td>\n",
       "      <td>3-hydroxyisobutyric aciduria</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.927169</td>\n",
       "      <td>0.015241</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3289</th>\n",
       "      <td>3-beta-hydroxysteroid dehydrogenase deficiency</td>\n",
       "      <td>3-beta-hydroxysteroid dehydrogenase deficiency</td>\n",
       "      <td>MONDO:0008727</td>\n",
       "      <td>congenital adrenal hyperplasia due to 3-beta-h...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>3-beta-hydroxysteroid dehydrogenase deficiency</td>\n",
       "      <td>3-Beta-Hydroxysteroid Dehydrogenase Deficiency</td>\n",
       "      <td>50.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.061581</td>\n",
       "      <td>0.799654</td>\n",
       "      <td>0.077184</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3670</th>\n",
       "      <td>3-methylglutaconic aciduria type III</td>\n",
       "      <td>3-methylglutaconic aciduria type III</td>\n",
       "      <td>MONDO:0009787</td>\n",
       "      <td>3-methylglutaconic aciduria type 3</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>3-methylglutaconic aciduria type III</td>\n",
       "      <td>3-methylglutaconic aciduria type III</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.918763</td>\n",
       "      <td>0.021299</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>755</th>\n",
       "      <td>4-hydroxyphenylacetic aciduria</td>\n",
       "      <td>4-hydroxyphenylacetic aciduria</td>\n",
       "      <td>HP:0003607</td>\n",
       "      <td>4-Hydroxyphenylacetic aciduria</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>4-hydroxyphenylacetic aciduria</td>\n",
       "      <td>4-Hydroxyphenylacetic aciduria</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>2</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3680</th>\n",
       "      <td>46 XX testicular disorder of sex development</td>\n",
       "      <td>46 XX testicular disorder of sex development</td>\n",
       "      <td>MONDO:0010766</td>\n",
       "      <td>46,XX testicular disorder of sex development</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>46 XX testicular disorder of sex development</td>\n",
       "      <td>46,XX testicular disorder of sex development</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.198342</td>\n",
       "      <td>0.198342</td>\n",
       "      <td>0.377872</td>\n",
       "      <td>0.225444</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3136</th>\n",
       "      <td>47 XXX syndrome</td>\n",
       "      <td>47 XXX syndrome</td>\n",
       "      <td>MONDO:0018066</td>\n",
       "      <td>trisomy X</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>47 XXX syndrome</td>\n",
       "      <td>47,XXX syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.226493</td>\n",
       "      <td>0.185437</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3166</th>\n",
       "      <td>47 XYY syndrome</td>\n",
       "      <td>47 XYY syndrome</td>\n",
       "      <td>MONDO:0019339</td>\n",
       "      <td>47,XYY syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>47 XYY syndrome</td>\n",
       "      <td>47,XYY syndrome</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.226493</td>\n",
       "      <td>0.185437</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4164</th>\n",
       "      <td>49 XXXXX syndrome</td>\n",
       "      <td>49 XXXXX syndrome</td>\n",
       "      <td>MONDO:0015228</td>\n",
       "      <td>pentasomy X</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>49 XXXXX syndrome</td>\n",
       "      <td>49,XXXXX syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4531</th>\n",
       "      <td>49 XXXXY syndrome</td>\n",
       "      <td>49 XXXXY syndrome</td>\n",
       "      <td>MONDO:0019929</td>\n",
       "      <td>49,XXXXY syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>49 XXXXY syndrome</td>\n",
       "      <td>49,XXXXY syndrome</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.219001</td>\n",
       "      <td>0.179303</td>\n",
       "      <td>0.379414</td>\n",
       "      <td>0.222282</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>710</th>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>MONDO:0009825</td>\n",
       "      <td>5-oxoprolinase deficiency (disease)</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.923042</td>\n",
       "      <td>0.016740</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>709</th>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>HP:0040142</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>5-oxoprolinase deficiency</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>...</th>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2067</th>\n",
       "      <td>Wrinkly skin syndrome</td>\n",
       "      <td>Wrinkly skin syndrome</td>\n",
       "      <td>MONDO:0010208</td>\n",
       "      <td>Wrinkly skin syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Wrinkly skin syndrome</td>\n",
       "      <td>Wrinkly skin syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2105</th>\n",
       "      <td>X-linked adrenal hypoplasia congenita</td>\n",
       "      <td>X-linked adrenal hypoplasia congenita</td>\n",
       "      <td>MONDO:0010264</td>\n",
       "      <td>X-linked adrenal hypoplasia congenita</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>X-linked adrenal hypoplasia congenita</td>\n",
       "      <td>X-linked adrenal hypoplasia congenita</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028738</td>\n",
       "      <td>0.028738</td>\n",
       "      <td>0.925323</td>\n",
       "      <td>0.017201</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1552</th>\n",
       "      <td>X-linked hypohidrotic ectodermal dysplasia</td>\n",
       "      <td>X-linked hypohidrotic ectodermal dysplasia</td>\n",
       "      <td>MONDO:0010585</td>\n",
       "      <td>X-linked hypohidrotic ectodermal dysplasia</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>X-linked hypohidrotic ectodermal dysplasia</td>\n",
       "      <td>X-linked hypohidrotic ectodermal dysplasia</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028738</td>\n",
       "      <td>0.028738</td>\n",
       "      <td>0.925323</td>\n",
       "      <td>0.017201</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>4</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3900</th>\n",
       "      <td>X-linked ichthyosis</td>\n",
       "      <td>X-linked ichthyosis</td>\n",
       "      <td>MONDO:0010622</td>\n",
       "      <td>recessive X-linked ichthyosis</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>X-linked ichthyosis</td>\n",
       "      <td>X-linked ichthyosis</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.029886</td>\n",
       "      <td>0.029886</td>\n",
       "      <td>0.916224</td>\n",
       "      <td>0.024003</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1968</th>\n",
       "      <td>X-linked severe combined immunodeficiency</td>\n",
       "      <td>X-linked severe combined immunodeficiency</td>\n",
       "      <td>MONDO:0010315</td>\n",
       "      <td>gamma chain deficiency</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>X-linked severe combined immunodeficiency</td>\n",
       "      <td>X-Linked Severe Combined Immunodeficiency</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.029969</td>\n",
       "      <td>0.918763</td>\n",
       "      <td>0.021299</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2543</th>\n",
       "      <td>XFE progeroid syndrome</td>\n",
       "      <td>XFE progeroid syndrome</td>\n",
       "      <td>MONDO:0012590</td>\n",
       "      <td>XFE progeroid syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>XFE progeroid syndrome</td>\n",
       "      <td>XFE progeroid syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3037</th>\n",
       "      <td>XK aprosencephaly</td>\n",
       "      <td>XK aprosencephaly</td>\n",
       "      <td>MONDO:0008811</td>\n",
       "      <td>XK aprosencephaly</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>XK aprosencephaly</td>\n",
       "      <td>XK aprosencephaly</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2070</th>\n",
       "      <td>Xanthinuria type 1</td>\n",
       "      <td>Xanthinuria type 1</td>\n",
       "      <td>MONDO:0010209</td>\n",
       "      <td>xanthinuria type I</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Xanthinuria type 1</td>\n",
       "      <td>xanthinuria type I</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2414</th>\n",
       "      <td>Xanthinuria type 2</td>\n",
       "      <td>Xanthinuria type 2</td>\n",
       "      <td>MONDO:0011346</td>\n",
       "      <td>xanthinuria type II</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Xanthinuria type 2</td>\n",
       "      <td>xanthinuria type II</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1509</th>\n",
       "      <td>Xanthogranulomatous cholecystitis</td>\n",
       "      <td>Xanthogranulomatous cholecystitis</td>\n",
       "      <td>MONDO:0004875</td>\n",
       "      <td>xanthogranulomatous cholecystitis</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Xanthogranulomatous cholecystitis</td>\n",
       "      <td>xanthogranulomatous cholecystitis</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.028795</td>\n",
       "      <td>0.927169</td>\n",
       "      <td>0.015241</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2867</th>\n",
       "      <td>Xeroderma pigmentosum</td>\n",
       "      <td>Xeroderma pigmentosum</td>\n",
       "      <td>MONDO:0019600</td>\n",
       "      <td>xeroderma pigmentosum</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Xeroderma pigmentosum</td>\n",
       "      <td>xeroderma pigmentosum</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2077</th>\n",
       "      <td>Xeroderma pigmentosum variant type</td>\n",
       "      <td>Xeroderma pigmentosum variant type</td>\n",
       "      <td>MONDO:0010214</td>\n",
       "      <td>xeroderma pigmentosum variant type</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Xeroderma pigmentosum variant type</td>\n",
       "      <td>xeroderma pigmentosum variant type</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3151</th>\n",
       "      <td>Yaws</td>\n",
       "      <td>Yaws</td>\n",
       "      <td>MONDO:0006019</td>\n",
       "      <td>yaws</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Yaws</td>\n",
       "      <td>yaws</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.051830</td>\n",
       "      <td>0.051830</td>\n",
       "      <td>0.874531</td>\n",
       "      <td>0.021809</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>10</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3080</th>\n",
       "      <td>Yellow fever</td>\n",
       "      <td>Yellow fever</td>\n",
       "      <td>MONDO:0020502</td>\n",
       "      <td>yellow fever</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Yellow fever</td>\n",
       "      <td>yellow fever</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>8</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4539</th>\n",
       "      <td>Yellow nail syndrome</td>\n",
       "      <td>Yellow nail syndrome</td>\n",
       "      <td>MONDO:0007921</td>\n",
       "      <td>yellow nail syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Yellow nail syndrome</td>\n",
       "      <td>yellow nail syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>9</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2555</th>\n",
       "      <td>Yemenite deaf-blind hypopigmentation syndrome</td>\n",
       "      <td>Yemenite deaf-blind hypopigmentation syndrome</td>\n",
       "      <td>MONDO:0011133</td>\n",
       "      <td>Deaf blind hypopigmentation syndrome, Yemenite...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>Yemenite deaf-blind hypopigmentation syndrome</td>\n",
       "      <td>Yemenite deaf-blind hypopigmentation syndrome</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.030109</td>\n",
       "      <td>0.923042</td>\n",
       "      <td>0.016740</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4262</th>\n",
       "      <td>Yolk sac tumor</td>\n",
       "      <td>Yolk sac tumor</td>\n",
       "      <td>MONDO:0005744</td>\n",
       "      <td>yolk sac tumor</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Yolk sac tumor</td>\n",
       "      <td>yolk sac tumor</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3775</th>\n",
       "      <td>Yorifuji Okuno syndrome</td>\n",
       "      <td>Yorifuji Okuno syndrome</td>\n",
       "      <td>MONDO:0010802</td>\n",
       "      <td>pancreatic hypoplasia-diabetes-congenital hear...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>Yorifuji Okuno syndrome</td>\n",
       "      <td>Yorifuji-Okuno syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4330</th>\n",
       "      <td>Young Hughes syndrome</td>\n",
       "      <td>Young Hughes syndrome</td>\n",
       "      <td>MONDO:0017614</td>\n",
       "      <td>X-linked intellectual disability-hypogonadism-...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>Young Hughes syndrome</td>\n",
       "      <td>Young-Hughes syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.382559</td>\n",
       "      <td>0.215835</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>4</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2384</th>\n",
       "      <td>Young Simpson syndrome</td>\n",
       "      <td>Young Simpson syndrome</td>\n",
       "      <td>MONDO:0011365</td>\n",
       "      <td>blepharophimosis-intellectual disability syndr...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>Young Simpson syndrome</td>\n",
       "      <td>Young-Simpson Syndrome</td>\n",
       "      <td>32.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.200803</td>\n",
       "      <td>0.382559</td>\n",
       "      <td>0.215835</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2059</th>\n",
       "      <td>Young syndrome</td>\n",
       "      <td>Young syndrome</td>\n",
       "      <td>MONDO:0010220</td>\n",
       "      <td>young syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Young syndrome</td>\n",
       "      <td>young syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2892</th>\n",
       "      <td>Yunis Varon syndrome</td>\n",
       "      <td>Yunis Varon syndrome</td>\n",
       "      <td>MONDO:0008995</td>\n",
       "      <td>Yunis-Varon syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Yunis Varon syndrome</td>\n",
       "      <td>Yunis-Varon syndrome</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.062922</td>\n",
       "      <td>0.062922</td>\n",
       "      <td>0.817066</td>\n",
       "      <td>0.057090</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>7</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>1473</th>\n",
       "      <td>Zechi Ceide syndrome</td>\n",
       "      <td>Zechi Ceide syndrome</td>\n",
       "      <td>MONDO:0013036</td>\n",
       "      <td>Zechi-Ceide syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Zechi Ceide syndrome</td>\n",
       "      <td>Zechi-Ceide syndrome</td>\n",
       "      <td>64.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2866</th>\n",
       "      <td>Zellweger syndrome</td>\n",
       "      <td>Zellweger syndrome</td>\n",
       "      <td>MONDO:0019609</td>\n",
       "      <td>Zellweger syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Zellweger syndrome</td>\n",
       "      <td>Zellweger syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.028758</td>\n",
       "      <td>0.925963</td>\n",
       "      <td>0.016522</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>657</th>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>MONDO:0006020</td>\n",
       "      <td>Zollinger-Ellison syndrome (disease)</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison Syndrome</td>\n",
       "      <td>90.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.473684</td>\n",
       "      <td>0.075251</td>\n",
       "      <td>0.062185</td>\n",
       "      <td>0.839062</td>\n",
       "      <td>0.023503</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>11</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>655</th>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>HP:0002044</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.028891</td>\n",
       "      <td>0.930268</td>\n",
       "      <td>0.011949</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>11</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>656</th>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>MONDO:0019610</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>Zollinger-Ellison syndrome</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>0.526316</td>\n",
       "      <td>0.055295</td>\n",
       "      <td>0.045694</td>\n",
       "      <td>0.882570</td>\n",
       "      <td>0.016441</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>11</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3377</th>\n",
       "      <td>Zori Stalker Williams syndrome</td>\n",
       "      <td>Zori Stalker Williams syndrome</td>\n",
       "      <td>MONDO:0010883</td>\n",
       "      <td>pectus excavatum-macrocephaly-dysplastic nails...</td>\n",
       "      <td>label</td>\n",
       "      <td>hasExactSynonym</td>\n",
       "      <td>Zori Stalker Williams syndrome</td>\n",
       "      <td>Zori-Stalker-Williams syndrome</td>\n",
       "      <td>58.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.205965</td>\n",
       "      <td>0.392394</td>\n",
       "      <td>0.195675</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>5</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>2061</th>\n",
       "      <td>Zunich neuroectodermal syndrome</td>\n",
       "      <td>Zunich neuroectodermal syndrome</td>\n",
       "      <td>MONDO:0010221</td>\n",
       "      <td>CHIME syndrome</td>\n",
       "      <td>label</td>\n",
       "      <td>hasRelatedSynonym</td>\n",
       "      <td>Zunich neuroectodermal syndrome</td>\n",
       "      <td>Zunich Neuroectodermal Syndrome</td>\n",
       "      <td>50.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.061951</td>\n",
       "      <td>0.061951</td>\n",
       "      <td>0.804454</td>\n",
       "      <td>0.071645</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>6</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3649</th>\n",
       "      <td>Zygomycosis</td>\n",
       "      <td>Zygomycosis</td>\n",
       "      <td>MONDO:0019136</td>\n",
       "      <td>zygomycosis</td>\n",
       "      <td>label</td>\n",
       "      <td>label</td>\n",
       "      <td>Zygomycosis</td>\n",
       "      <td>zygomycosis</td>\n",
       "      <td>100.0</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>...</td>\n",
       "      <td>1.000000</td>\n",
       "      <td>0.051830</td>\n",
       "      <td>0.051830</td>\n",
       "      <td>0.874531</td>\n",
       "      <td>0.021809</td>\n",
       "      <td>True</td>\n",
       "      <td>True</td>\n",
       "      <td>False</td>\n",
       "      <td>False</td>\n",
       "      <td>9</td>\n",
       "    </tr>\n",
       "  </tbody>\n",
       "</table>\n",
       "<p>4558 rows × 22 columns</p>\n",
       "</div>"
      ],
      "text/plain": [
       "                                                   left  \\\n",
       "3287                     11-beta-hydroxylase deficiency   \n",
       "2199                     15q13.3 microdeletion syndrome   \n",
       "3339                    17-alpha-hydroxylase deficiency   \n",
       "3481  17-beta hydroxysteroid dehydrogenase 3 deficiency   \n",
       "2592                    17q21.31 microdeletion syndrome   \n",
       "2593                    17q21.31 microdeletion syndrome   \n",
       "2987                          18 Hydroxylase deficiency   \n",
       "2986                          18 Hydroxylase deficiency   \n",
       "1960                      1q21.1 microdeletion syndrome   \n",
       "1428               2 4-Dienoyl-CoA reductase deficiency   \n",
       "4514                         2-Hydroxyglutaric aciduria   \n",
       "1888                 2-methyl-3-hydroxybutyric aciduria   \n",
       "1202       2-methylbutyryl-CoA dehydrogenase deficiency   \n",
       "3288                          21-hydroxylase deficiency   \n",
       "3507                          22q11.2 deletion syndrome   \n",
       "2964                          22q11.2 deletion syndrome   \n",
       "1721                 3 methylglutaconic aciduria type I   \n",
       "1720                3 methylglutaconic aciduria type IV   \n",
       "2580                 3 methylglutaconic aciduria type V   \n",
       "1877                       3-Hydroxyisobutyric aciduria   \n",
       "3289     3-beta-hydroxysteroid dehydrogenase deficiency   \n",
       "3670               3-methylglutaconic aciduria type III   \n",
       "755                      4-hydroxyphenylacetic aciduria   \n",
       "3680       46 XX testicular disorder of sex development   \n",
       "3136                                    47 XXX syndrome   \n",
       "3166                                    47 XYY syndrome   \n",
       "4164                                  49 XXXXX syndrome   \n",
       "4531                                  49 XXXXY syndrome   \n",
       "710                           5-oxoprolinase deficiency   \n",
       "709                           5-oxoprolinase deficiency   \n",
       "...                                                 ...   \n",
       "2067                              Wrinkly skin syndrome   \n",
       "2105              X-linked adrenal hypoplasia congenita   \n",
       "1552         X-linked hypohidrotic ectodermal dysplasia   \n",
       "3900                                X-linked ichthyosis   \n",
       "1968          X-linked severe combined immunodeficiency   \n",
       "2543                             XFE progeroid syndrome   \n",
       "3037                                  XK aprosencephaly   \n",
       "2070                                 Xanthinuria type 1   \n",
       "2414                                 Xanthinuria type 2   \n",
       "1509                  Xanthogranulomatous cholecystitis   \n",
       "2867                              Xeroderma pigmentosum   \n",
       "2077                 Xeroderma pigmentosum variant type   \n",
       "3151                                               Yaws   \n",
       "3080                                       Yellow fever   \n",
       "4539                               Yellow nail syndrome   \n",
       "2555      Yemenite deaf-blind hypopigmentation syndrome   \n",
       "4262                                     Yolk sac tumor   \n",
       "3775                            Yorifuji Okuno syndrome   \n",
       "4330                              Young Hughes syndrome   \n",
       "2384                             Young Simpson syndrome   \n",
       "2059                                     Young syndrome   \n",
       "2892                               Yunis Varon syndrome   \n",
       "1473                               Zechi Ceide syndrome   \n",
       "2866                                 Zellweger syndrome   \n",
       "657                          Zollinger-Ellison syndrome   \n",
       "655                          Zollinger-Ellison syndrome   \n",
       "656                          Zollinger-Ellison syndrome   \n",
       "3377                     Zori Stalker Williams syndrome   \n",
       "2061                    Zunich neuroectodermal syndrome   \n",
       "3649                                        Zygomycosis   \n",
       "\n",
       "                                             left_label          right  \\\n",
       "3287                     11-beta-hydroxylase deficiency  MONDO:0008729   \n",
       "2199                     15q13.3 microdeletion syndrome  MONDO:0012774   \n",
       "3339                    17-alpha-hydroxylase deficiency  MONDO:0008730   \n",
       "3481  17-beta hydroxysteroid dehydrogenase 3 deficiency  MONDO:0009916   \n",
       "2592                    17q21.31 microdeletion syndrome  MONDO:0012496   \n",
       "2593                    17q21.31 microdeletion syndrome  MONDO:0018216   \n",
       "2987                          18 Hydroxylase deficiency  MONDO:0008751   \n",
       "2986                          18 Hydroxylase deficiency  MONDO:0020489   \n",
       "1960                      1q21.1 microdeletion syndrome  MONDO:0012914   \n",
       "1428               2 4-Dienoyl-CoA reductase deficiency  MONDO:0014464   \n",
       "4514                         2-Hydroxyglutaric aciduria  MONDO:0016001   \n",
       "1888                 2-methyl-3-hydroxybutyric aciduria  MONDO:0010327   \n",
       "1202       2-methylbutyryl-CoA dehydrogenase deficiency  MONDO:0012392   \n",
       "3288                          21-hydroxylase deficiency  MONDO:0008728   \n",
       "3507                          22q11.2 deletion syndrome  MONDO:0008644   \n",
       "2964                          22q11.2 deletion syndrome  MONDO:0018923   \n",
       "1721                 3 methylglutaconic aciduria type I  MONDO:0009610   \n",
       "1720                3 methylglutaconic aciduria type IV  MONDO:0009611   \n",
       "2580                 3 methylglutaconic aciduria type V  MONDO:0012435   \n",
       "1877                       3-Hydroxyisobutyric aciduria  MONDO:0009371   \n",
       "3289     3-beta-hydroxysteroid dehydrogenase deficiency  MONDO:0008727   \n",
       "3670               3-methylglutaconic aciduria type III  MONDO:0009787   \n",
       "755                      4-hydroxyphenylacetic aciduria     HP:0003607   \n",
       "3680       46 XX testicular disorder of sex development  MONDO:0010766   \n",
       "3136                                    47 XXX syndrome  MONDO:0018066   \n",
       "3166                                    47 XYY syndrome  MONDO:0019339   \n",
       "4164                                  49 XXXXX syndrome  MONDO:0015228   \n",
       "4531                                  49 XXXXY syndrome  MONDO:0019929   \n",
       "710                           5-oxoprolinase deficiency  MONDO:0009825   \n",
       "709                           5-oxoprolinase deficiency     HP:0040142   \n",
       "...                                                 ...            ...   \n",
       "2067                              Wrinkly skin syndrome  MONDO:0010208   \n",
       "2105              X-linked adrenal hypoplasia congenita  MONDO:0010264   \n",
       "1552         X-linked hypohidrotic ectodermal dysplasia  MONDO:0010585   \n",
       "3900                                X-linked ichthyosis  MONDO:0010622   \n",
       "1968          X-linked severe combined immunodeficiency  MONDO:0010315   \n",
       "2543                             XFE progeroid syndrome  MONDO:0012590   \n",
       "3037                                  XK aprosencephaly  MONDO:0008811   \n",
       "2070                                 Xanthinuria type 1  MONDO:0010209   \n",
       "2414                                 Xanthinuria type 2  MONDO:0011346   \n",
       "1509                  Xanthogranulomatous cholecystitis  MONDO:0004875   \n",
       "2867                              Xeroderma pigmentosum  MONDO:0019600   \n",
       "2077                 Xeroderma pigmentosum variant type  MONDO:0010214   \n",
       "3151                                               Yaws  MONDO:0006019   \n",
       "3080                                       Yellow fever  MONDO:0020502   \n",
       "4539                               Yellow nail syndrome  MONDO:0007921   \n",
       "2555      Yemenite deaf-blind hypopigmentation syndrome  MONDO:0011133   \n",
       "4262                                     Yolk sac tumor  MONDO:0005744   \n",
       "3775                            Yorifuji Okuno syndrome  MONDO:0010802   \n",
       "4330                              Young Hughes syndrome  MONDO:0017614   \n",
       "2384                             Young Simpson syndrome  MONDO:0011365   \n",
       "2059                                     Young syndrome  MONDO:0010220   \n",
       "2892                               Yunis Varon syndrome  MONDO:0008995   \n",
       "1473                               Zechi Ceide syndrome  MONDO:0013036   \n",
       "2866                                 Zellweger syndrome  MONDO:0019609   \n",
       "657                          Zollinger-Ellison syndrome  MONDO:0006020   \n",
       "655                          Zollinger-Ellison syndrome     HP:0002044   \n",
       "656                          Zollinger-Ellison syndrome  MONDO:0019610   \n",
       "3377                     Zori Stalker Williams syndrome  MONDO:0010883   \n",
       "2061                    Zunich neuroectodermal syndrome  MONDO:0010221   \n",
       "3649                                        Zygomycosis  MONDO:0019136   \n",
       "\n",
       "                                            right_label left_match_type  \\\n",
       "3287  congenital adrenal hyperplasia due to 11-beta-...           label   \n",
       "2199          chromosome 15q13.3 microdeletion syndrome           label   \n",
       "3339  congenital adrenal hyperplasia due to 17-alpha...           label   \n",
       "3481  46,XY disorder of sex development due to 17-be...           label   \n",
       "2592                           Koolen de Vries syndrome           label   \n",
       "2593                    17q21.31 microdeletion syndrome           label   \n",
       "2987     Corticosterone methyloxidase type 1 deficiency           label   \n",
       "2986   familial hyperreninemic hypoaldosteronism type 1           label   \n",
       "1960                chromosome 1q21.1 deletion syndrome           label   \n",
       "1428  progressive encephalopathy with leukodystrophy...           label   \n",
       "4514                         2-hydroxyglutaric aciduria           label   \n",
       "1888                                      HSD10 disease           label   \n",
       "1202       2-methylbutyryl-CoA dehydrogenase deficiency           label   \n",
       "3288  classic congenital adrenal hyperplasia due to ...           label   \n",
       "3507                          velocardiofacial syndrome           label   \n",
       "2964                          22q11.2 deletion syndrome           label   \n",
       "1721                 3-methylglutaconic aciduria type 1           label   \n",
       "1720                 3-methylglutaconic aciduria type 4           label   \n",
       "2580                 3-methylglutaconic aciduria type 5           label   \n",
       "1877                       3-hydroxyisobutyric aciduria           label   \n",
       "3289  congenital adrenal hyperplasia due to 3-beta-h...           label   \n",
       "3670                 3-methylglutaconic aciduria type 3           label   \n",
       "755                      4-Hydroxyphenylacetic aciduria           label   \n",
       "3680       46,XX testicular disorder of sex development           label   \n",
       "3136                                          trisomy X           label   \n",
       "3166                                    47,XYY syndrome           label   \n",
       "4164                                        pentasomy X           label   \n",
       "4531                                  49,XXXXY syndrome           label   \n",
       "710                 5-oxoprolinase deficiency (disease)           label   \n",
       "709                           5-oxoprolinase deficiency           label   \n",
       "...                                                 ...             ...   \n",
       "2067                              Wrinkly skin syndrome           label   \n",
       "2105              X-linked adrenal hypoplasia congenita           label   \n",
       "1552         X-linked hypohidrotic ectodermal dysplasia           label   \n",
       "3900                      recessive X-linked ichthyosis           label   \n",
       "1968                             gamma chain deficiency           label   \n",
       "2543                             XFE progeroid syndrome           label   \n",
       "3037                                  XK aprosencephaly           label   \n",
       "2070                                 xanthinuria type I           label   \n",
       "2414                                xanthinuria type II           label   \n",
       "1509                  xanthogranulomatous cholecystitis           label   \n",
       "2867                              xeroderma pigmentosum           label   \n",
       "2077                 xeroderma pigmentosum variant type           label   \n",
       "3151                                               yaws           label   \n",
       "3080                                       yellow fever           label   \n",
       "4539                               yellow nail syndrome           label   \n",
       "2555  Deaf blind hypopigmentation syndrome, Yemenite...           label   \n",
       "4262                                     yolk sac tumor           label   \n",
       "3775  pancreatic hypoplasia-diabetes-congenital hear...           label   \n",
       "4330  X-linked intellectual disability-hypogonadism-...           label   \n",
       "2384  blepharophimosis-intellectual disability syndr...           label   \n",
       "2059                                     young syndrome           label   \n",
       "2892                               Yunis-Varon syndrome           label   \n",
       "1473                               Zechi-Ceide syndrome           label   \n",
       "2866                                 Zellweger syndrome           label   \n",
       "657                Zollinger-Ellison syndrome (disease)           label   \n",
       "655                          Zollinger-Ellison syndrome           label   \n",
       "656                          Zollinger-Ellison syndrome           label   \n",
       "3377  pectus excavatum-macrocephaly-dysplastic nails...           label   \n",
       "2061                                     CHIME syndrome           label   \n",
       "3649                                        zygomycosis           label   \n",
       "\n",
       "       right_match_type                                     left_match_val  \\\n",
       "3287  hasRelatedSynonym                     11-beta-hydroxylase deficiency   \n",
       "2199    hasExactSynonym                     15q13.3 microdeletion syndrome   \n",
       "3339  hasRelatedSynonym                    17-alpha-hydroxylase deficiency   \n",
       "3481    hasExactSynonym  17-beta hydroxysteroid dehydrogenase 3 deficiency   \n",
       "2592    hasExactSynonym                    17q21.31 microdeletion syndrome   \n",
       "2593              label                    17q21.31 microdeletion syndrome   \n",
       "2987  hasRelatedSynonym                          18 Hydroxylase deficiency   \n",
       "2986    hasExactSynonym                          18 Hydroxylase deficiency   \n",
       "1960    hasExactSynonym                      1q21.1 microdeletion syndrome   \n",
       "1428    hasExactSynonym               2 4-Dienoyl-CoA reductase deficiency   \n",
       "4514              label                         2-Hydroxyglutaric aciduria   \n",
       "1888    hasExactSynonym                 2-methyl-3-hydroxybutyric aciduria   \n",
       "1202              label       2-methylbutyryl-CoA dehydrogenase deficiency   \n",
       "3288  hasRelatedSynonym                          21-hydroxylase deficiency   \n",
       "3507    hasExactSynonym                          22q11.2 deletion syndrome   \n",
       "2964              label                          22q11.2 deletion syndrome   \n",
       "1721              label                 3 methylglutaconic aciduria type I   \n",
       "1720              label                3 methylglutaconic aciduria type IV   \n",
       "2580              label                 3 methylglutaconic aciduria type V   \n",
       "1877              label                       3-Hydroxyisobutyric aciduria   \n",
       "3289  hasRelatedSynonym     3-beta-hydroxysteroid dehydrogenase deficiency   \n",
       "3670    hasExactSynonym               3-methylglutaconic aciduria type III   \n",
       "755               label                     4-hydroxyphenylacetic aciduria   \n",
       "3680              label       46 XX testicular disorder of sex development   \n",
       "3136    hasExactSynonym                                    47 XXX syndrome   \n",
       "3166              label                                    47 XYY syndrome   \n",
       "4164    hasExactSynonym                                  49 XXXXX syndrome   \n",
       "4531              label                                  49 XXXXY syndrome   \n",
       "710     hasExactSynonym                          5-oxoprolinase deficiency   \n",
       "709               label                          5-oxoprolinase deficiency   \n",
       "...                 ...                                                ...   \n",
       "2067              label                              Wrinkly skin syndrome   \n",
       "2105              label              X-linked adrenal hypoplasia congenita   \n",
       "1552              label         X-linked hypohidrotic ectodermal dysplasia   \n",
       "3900    hasExactSynonym                                X-linked ichthyosis   \n",
       "1968    hasExactSynonym          X-linked severe combined immunodeficiency   \n",
       "2543              label                             XFE progeroid syndrome   \n",
       "3037              label                                  XK aprosencephaly   \n",
       "2070              label                                 Xanthinuria type 1   \n",
       "2414              label                                 Xanthinuria type 2   \n",
       "1509              label                  Xanthogranulomatous cholecystitis   \n",
       "2867              label                              Xeroderma pigmentosum   \n",
       "2077              label                 Xeroderma pigmentosum variant type   \n",
       "3151              label                                               Yaws   \n",
       "3080              label                                       Yellow fever   \n",
       "4539              label                               Yellow nail syndrome   \n",
       "2555    hasExactSynonym      Yemenite deaf-blind hypopigmentation syndrome   \n",
       "4262              label                                     Yolk sac tumor   \n",
       "3775    hasExactSynonym                            Yorifuji Okuno syndrome   \n",
       "4330    hasExactSynonym                              Young Hughes syndrome   \n",
       "2384  hasRelatedSynonym                             Young Simpson syndrome   \n",
       "2059              label                                     Young syndrome   \n",
       "2892              label                               Yunis Varon syndrome   \n",
       "1473              label                               Zechi Ceide syndrome   \n",
       "2866              label                                 Zellweger syndrome   \n",
       "657     hasExactSynonym                         Zollinger-Ellison syndrome   \n",
       "655               label                         Zollinger-Ellison syndrome   \n",
       "656               label                         Zollinger-Ellison syndrome   \n",
       "3377    hasExactSynonym                     Zori Stalker Williams syndrome   \n",
       "2061  hasRelatedSynonym                    Zunich neuroectodermal syndrome   \n",
       "3649              label                                        Zygomycosis   \n",
       "\n",
       "                                        right_match_val  score  left_simscore  \\\n",
       "3287                     11-Beta-Hydroxylase Deficiency   50.0       1.000000   \n",
       "2199                     15q13.3 microdeletion syndrome   90.0       1.000000   \n",
       "3339                    17-Alpha-Hydroxylase Deficiency   50.0       1.000000   \n",
       "3481  17-beta-hydroxysteroid dehydrogenase 3 deficiency   58.0       1.000000   \n",
       "2592                    17q21.31 microdeletion syndrome   90.0       1.000000   \n",
       "2593                    17q21.31 microdeletion syndrome  100.0       1.000000   \n",
       "2987                          18-Hydroxylase Deficiency   32.0       1.000000   \n",
       "2986                          18-hydroxylase deficiency   58.0       1.000000   \n",
       "1960                      1q21.1 microdeletion syndrome   90.0       1.000000   \n",
       "1428               2,4-dienoyl-CoA reductase deficiency   58.0       1.000000   \n",
       "4514                         2-hydroxyglutaric aciduria  100.0       1.000000   \n",
       "1888                 2-methyl-3-hydroxybutyric aciduria   90.0       1.000000   \n",
       "1202       2-methylbutyryl-CoA dehydrogenase deficiency  100.0       1.000000   \n",
       "3288                          21-Hydroxylase Deficiency   50.0       1.000000   \n",
       "3507                          deletion 22q11.2 syndrome   58.0       1.000000   \n",
       "2964                          22q11.2 deletion syndrome  100.0       0.166667   \n",
       "1721                 3-methylglutaconic aciduria type 1   64.0       1.000000   \n",
       "1720                 3-methylglutaconic aciduria type 4   64.0       1.000000   \n",
       "2580                 3-methylglutaconic aciduria type 5   64.0       1.000000   \n",
       "1877                       3-hydroxyisobutyric aciduria  100.0       1.000000   \n",
       "3289     3-Beta-Hydroxysteroid Dehydrogenase Deficiency   50.0       1.000000   \n",
       "3670               3-methylglutaconic aciduria type III   90.0       1.000000   \n",
       "755                      4-Hydroxyphenylacetic aciduria  100.0       1.000000   \n",
       "3680       46,XX testicular disorder of sex development   64.0       1.000000   \n",
       "3136                                    47,XXX syndrome   58.0       1.000000   \n",
       "3166                                    47,XYY syndrome   64.0       1.000000   \n",
       "4164                                  49,XXXXX syndrome   58.0       1.000000   \n",
       "4531                                  49,XXXXY syndrome   64.0       1.000000   \n",
       "710                           5-oxoprolinase deficiency   90.0       1.000000   \n",
       "709                           5-oxoprolinase deficiency  100.0       1.000000   \n",
       "...                                                 ...    ...            ...   \n",
       "2067                              Wrinkly skin syndrome  100.0       1.000000   \n",
       "2105              X-linked adrenal hypoplasia congenita  100.0       1.000000   \n",
       "1552         X-linked hypohidrotic ectodermal dysplasia  100.0       1.000000   \n",
       "3900                                X-linked ichthyosis   90.0       1.000000   \n",
       "1968          X-Linked Severe Combined Immunodeficiency   90.0       1.000000   \n",
       "2543                             XFE progeroid syndrome  100.0       1.000000   \n",
       "3037                                  XK aprosencephaly  100.0       1.000000   \n",
       "2070                                 xanthinuria type I   64.0       1.000000   \n",
       "2414                                xanthinuria type II   64.0       1.000000   \n",
       "1509                  xanthogranulomatous cholecystitis  100.0       1.000000   \n",
       "2867                              xeroderma pigmentosum  100.0       1.000000   \n",
       "2077                 xeroderma pigmentosum variant type  100.0       1.000000   \n",
       "3151                                               yaws  100.0       1.000000   \n",
       "3080                                       yellow fever  100.0       1.000000   \n",
       "4539                               yellow nail syndrome  100.0       1.000000   \n",
       "2555      Yemenite deaf-blind hypopigmentation syndrome   90.0       1.000000   \n",
       "4262                                     yolk sac tumor  100.0       1.000000   \n",
       "3775                            Yorifuji-Okuno syndrome   58.0       1.000000   \n",
       "4330                              Young-Hughes syndrome   58.0       1.000000   \n",
       "2384                             Young-Simpson Syndrome   32.0       1.000000   \n",
       "2059                                     young syndrome  100.0       1.000000   \n",
       "2892                               Yunis-Varon syndrome   64.0       1.000000   \n",
       "1473                               Zechi-Ceide syndrome   64.0       1.000000   \n",
       "2866                                 Zellweger syndrome  100.0       1.000000   \n",
       "657                          Zollinger-Ellison Syndrome   90.0       1.000000   \n",
       "655                          Zollinger-Ellison syndrome  100.0       1.000000   \n",
       "656                          Zollinger-Ellison syndrome  100.0       1.000000   \n",
       "3377                     Zori-Stalker-Williams syndrome   58.0       1.000000   \n",
       "2061                    Zunich Neuroectodermal Syndrome   50.0       1.000000   \n",
       "3649                                        zygomycosis  100.0       1.000000   \n",
       "\n",
       "            ...          conditional_pr_equiv  pr_subClassOf  pr_superClassOf  \\\n",
       "3287        ...                      1.000000       0.061581         0.061581   \n",
       "2199        ...                      1.000000       0.029969         0.029969   \n",
       "3339        ...                      1.000000       0.061581         0.061581   \n",
       "3481        ...                      1.000000       0.205965         0.205965   \n",
       "2592        ...                      0.473684       0.168017         0.055554   \n",
       "2593        ...                      0.526316       0.051671         0.108232   \n",
       "2987        ...                      0.355556       0.232996         0.289482   \n",
       "2986        ...                      0.644444       0.292046         0.210145   \n",
       "1960        ...                      1.000000       0.030109         0.030109   \n",
       "1428        ...                      1.000000       0.200803         0.200803   \n",
       "4514        ...                      1.000000       0.028758         0.028758   \n",
       "1888        ...                      1.000000       0.029969         0.029969   \n",
       "1202        ...                      1.000000       0.028795         0.028795   \n",
       "3288        ...                      1.000000       0.061581         0.061581   \n",
       "3507        ...                      0.134754       0.179472         0.287938   \n",
       "2964        ...                      0.115075       0.092223         0.035954   \n",
       "1721        ...                      1.000000       0.200803         0.200803   \n",
       "1720        ...                      1.000000       0.200803         0.200803   \n",
       "2580        ...                      1.000000       0.198342         0.198342   \n",
       "1877        ...                      1.000000       0.028795         0.028795   \n",
       "3289        ...                      1.000000       0.061581         0.061581   \n",
       "3670        ...                      1.000000       0.029969         0.029969   \n",
       "755         ...                      1.000000       0.028891         0.028891   \n",
       "3680        ...                      1.000000       0.198342         0.198342   \n",
       "3136        ...                      1.000000       0.226493         0.185437   \n",
       "3166        ...                      1.000000       0.226493         0.185437   \n",
       "4164        ...                      1.000000       0.205965         0.205965   \n",
       "4531        ...                      1.000000       0.219001         0.179303   \n",
       "710         ...                      1.000000       0.030109         0.030109   \n",
       "709         ...                      1.000000       0.028891         0.028891   \n",
       "...         ...                           ...            ...              ...   \n",
       "2067        ...                      1.000000       0.028758         0.028758   \n",
       "2105        ...                      1.000000       0.028738         0.028738   \n",
       "1552        ...                      1.000000       0.028738         0.028738   \n",
       "3900        ...                      1.000000       0.029886         0.029886   \n",
       "1968        ...                      1.000000       0.029969         0.029969   \n",
       "2543        ...                      1.000000       0.028891         0.028891   \n",
       "3037        ...                      1.000000       0.028891         0.028891   \n",
       "2070        ...                      1.000000       0.205965         0.205965   \n",
       "2414        ...                      1.000000       0.205965         0.205965   \n",
       "1509        ...                      1.000000       0.028795         0.028795   \n",
       "2867        ...                      1.000000       0.028758         0.028758   \n",
       "2077        ...                      1.000000       0.028758         0.028758   \n",
       "3151        ...                      1.000000       0.051830         0.051830   \n",
       "3080        ...                      1.000000       0.028891         0.028891   \n",
       "4539        ...                      1.000000       0.028891         0.028891   \n",
       "2555        ...                      1.000000       0.030109         0.030109   \n",
       "4262        ...                      1.000000       0.028758         0.028758   \n",
       "3775        ...                      1.000000       0.205965         0.205965   \n",
       "4330        ...                      1.000000       0.200803         0.200803   \n",
       "2384        ...                      1.000000       0.200803         0.200803   \n",
       "2059        ...                      1.000000       0.028891         0.028891   \n",
       "2892        ...                      1.000000       0.062922         0.062922   \n",
       "1473        ...                      1.000000       0.205965         0.205965   \n",
       "2866        ...                      1.000000       0.028758         0.028758   \n",
       "657         ...                      0.473684       0.075251         0.062185   \n",
       "655         ...                      1.000000       0.028891         0.028891   \n",
       "656         ...                      0.526316       0.055295         0.045694   \n",
       "3377        ...                      1.000000       0.205965         0.205965   \n",
       "2061        ...                      1.000000       0.061951         0.061951   \n",
       "3649        ...                      1.000000       0.051830         0.051830   \n",
       "\n",
       "      pr_equivalentTo  pr_other  left_novel  right_novel  left_consistent  \\\n",
       "3287         0.799654  0.077184        True         True            False   \n",
       "2199         0.918763  0.021299        True         True            False   \n",
       "3339         0.799654  0.077184        True         True            False   \n",
       "3481         0.392394  0.195675        True         True            False   \n",
       "2592         0.749591  0.026839        True         True            False   \n",
       "2593         0.824734  0.015363        True         True            False   \n",
       "2987         0.283582  0.193941        True         True            False   \n",
       "2986         0.309167  0.188643        True         True            False   \n",
       "1960         0.923042  0.016740        True         True            False   \n",
       "1428         0.382559  0.215835        True         True            False   \n",
       "4514         0.925963  0.016522        True         True            False   \n",
       "1888         0.918763  0.021299        True         True            False   \n",
       "1202         0.927169  0.015241        True         True            False   \n",
       "3288         0.799654  0.077184        True         True            False   \n",
       "3507         0.282070  0.250520        True         True            False   \n",
       "2964         0.841716  0.030107        True         True            False   \n",
       "1721         0.382559  0.215835        True         True            False   \n",
       "1720         0.382559  0.215835        True         True            False   \n",
       "2580         0.377872  0.225444        True         True            False   \n",
       "1877         0.927169  0.015241        True         True            False   \n",
       "3289         0.799654  0.077184        True         True            False   \n",
       "3670         0.918763  0.021299        True         True            False   \n",
       "755          0.930268  0.011949        True         True            False   \n",
       "3680         0.377872  0.225444        True         True            False   \n",
       "3136         0.392394  0.195675        True         True            False   \n",
       "3166         0.392394  0.195675        True         True            False   \n",
       "4164         0.392394  0.195675        True         True            False   \n",
       "4531         0.379414  0.222282        True         True            False   \n",
       "710          0.923042  0.016740        True         True            False   \n",
       "709          0.930268  0.011949        True         True            False   \n",
       "...               ...       ...         ...          ...              ...   \n",
       "2067         0.925963  0.016522        True         True            False   \n",
       "2105         0.925323  0.017201        True         True            False   \n",
       "1552         0.925323  0.017201        True         True            False   \n",
       "3900         0.916224  0.024003        True         True            False   \n",
       "1968         0.918763  0.021299        True         True            False   \n",
       "2543         0.930268  0.011949        True         True            False   \n",
       "3037         0.930268  0.011949        True         True            False   \n",
       "2070         0.392394  0.195675        True         True            False   \n",
       "2414         0.392394  0.195675        True         True            False   \n",
       "1509         0.927169  0.015241        True         True            False   \n",
       "2867         0.925963  0.016522        True         True            False   \n",
       "2077         0.925963  0.016522        True         True            False   \n",
       "3151         0.874531  0.021809        True         True            False   \n",
       "3080         0.930268  0.011949        True         True            False   \n",
       "4539         0.930268  0.011949        True         True            False   \n",
       "2555         0.923042  0.016740        True         True            False   \n",
       "4262         0.925963  0.016522        True         True            False   \n",
       "3775         0.392394  0.195675        True         True            False   \n",
       "4330         0.382559  0.215835        True         True            False   \n",
       "2384         0.382559  0.215835        True         True            False   \n",
       "2059         0.930268  0.011949        True         True            False   \n",
       "2892         0.817066  0.057090        True         True            False   \n",
       "1473         0.392394  0.195675        True         True            False   \n",
       "2866         0.925963  0.016522        True         True            False   \n",
       "657          0.839062  0.023503        True         True            False   \n",
       "655          0.930268  0.011949        True         True            False   \n",
       "656          0.882570  0.016441        True         True            False   \n",
       "3377         0.392394  0.195675        True         True            False   \n",
       "2061         0.804454  0.071645        True         True            False   \n",
       "3649         0.874531  0.021809        True         True            False   \n",
       "\n",
       "      right_consistent  equiv_clique_size  \n",
       "3287             False                  7  \n",
       "2199             False                  6  \n",
       "3339             False                  5  \n",
       "3481             False                  7  \n",
       "2592             False                  8  \n",
       "2593             False                  8  \n",
       "2987             False                  6  \n",
       "2986             False                  6  \n",
       "1960             False                  6  \n",
       "1428             False                  5  \n",
       "4514             False                  7  \n",
       "1888             False                  5  \n",
       "1202             False                  7  \n",
       "3288             False                  5  \n",
       "3507             False                 41  \n",
       "2964             False                 41  \n",
       "1721             False                  9  \n",
       "1720             False                  8  \n",
       "2580             False                  7  \n",
       "1877             False                  8  \n",
       "3289             False                  5  \n",
       "3670             False                  8  \n",
       "755              False                  2  \n",
       "3680             False                  6  \n",
       "3136             False                  5  \n",
       "3166             False                  5  \n",
       "4164             False                  5  \n",
       "4531             False                  6  \n",
       "710              False                  7  \n",
       "709              False                  7  \n",
       "...                ...                ...  \n",
       "2067             False                  7  \n",
       "2105             False                  7  \n",
       "1552             False                  4  \n",
       "3900             False                  7  \n",
       "1968             False                  8  \n",
       "2543             False                  7  \n",
       "3037             False                  8  \n",
       "2070             False                  5  \n",
       "2414             False                  6  \n",
       "1509             False                  8  \n",
       "2867             False                  8  \n",
       "2077             False                  8  \n",
       "3151             False                 10  \n",
       "3080             False                  8  \n",
       "4539             False                  9  \n",
       "2555             False                  6  \n",
       "4262             False                  7  \n",
       "3775             False                  5  \n",
       "4330             False                  4  \n",
       "2384             False                  7  \n",
       "2059             False                  7  \n",
       "2892             False                  7  \n",
       "1473             False                  6  \n",
       "2866             False                  6  \n",
       "657              False                 11  \n",
       "655              False                 11  \n",
       "656              False                 11  \n",
       "3377             False                  5  \n",
       "2061             False                  6  \n",
       "3649             False                  9  \n",
       "\n",
       "[4558 rows x 22 columns]"
      ]
     },
     "execution_count": 19,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "# get a dataframe from the mapping graph\n",
    "df=lexmap.as_dataframe(g)\n",
    "df"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 20,
   "metadata": {},
   "outputs": [],
   "source": [
    "## write to file (not used here but can be examined separately)\n",
    "df.to_csv('rare-matches.tsv', sep=\"\\t\", index=False)"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 21,
   "metadata": {},
   "outputs": [],
   "source": [
    "udf = lexmap.unmapped_dataframe(g)"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": 22,
   "metadata": {},
   "outputs": [
    {
     "data": {
      "text/html": [
       "<div>\n",
       "<style>\n",
       "    .dataframe thead tr:only-child th {\n",
       "        text-align: right;\n",
       "    }\n",
       "\n",
       "    .dataframe thead th {\n",
       "        text-align: left;\n",
       "    }\n",
       "\n",
       "    .dataframe tbody tr th {\n",
       "        vertical-align: top;\n",
       "    }\n",
       "</style>\n",
       "<table border=\"1\" class=\"dataframe\">\n",
       "  <thead>\n",
       "    <tr style=\"text-align: right;\">\n",
       "      <th></th>\n",
       "      <th>id</th>\n",
       "      <th>label</th>\n",
       "      <th>mapped_equivs</th>\n",
       "    </tr>\n",
       "  </thead>\n",
       "  <tbody>\n",
       "    <tr>\n",
       "      <th>18057</th>\n",
       "      <td>16p11.2 deletion syndrome</td>\n",
       "      <td>16p11.2 deletion syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>105646</th>\n",
       "      <td>2-Methylacetoacetyl CoA thiolase deficiency</td>\n",
       "      <td>2-Methylacetoacetyl CoA thiolase deficiency</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>41905</th>\n",
       "      <td>2-hydroxyethyl methacrylate sensitization</td>\n",
       "      <td>2-hydroxyethyl methacrylate sensitization</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>29133</th>\n",
       "      <td>22q11.2 duplication syndrome</td>\n",
       "      <td>22q11.2 duplication syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>100428</th>\n",
       "      <td>22q13.3 deletion syndrome</td>\n",
       "      <td>22q13.3 deletion syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>96122</th>\n",
       "      <td>2q37 deletion syndrome</td>\n",
       "      <td>2q37 deletion syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>88482</th>\n",
       "      <td>3 Methylcrotonyl-CoA carboxylase 1 deficiency</td>\n",
       "      <td>3 Methylcrotonyl-CoA carboxylase 1 deficiency</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>34501</th>\n",
       "      <td>3 alpha methylcrotonyl-CoA carboxylase 2 defic...</td>\n",
       "      <td>3 alpha methylcrotonyl-CoA carboxylase 2 defic...</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>85670</th>\n",
       "      <td>3-alpha hydroxyacyl-CoA dehydrogenase deficiency</td>\n",
       "      <td>3-alpha hydroxyacyl-CoA dehydrogenase deficiency</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>77929</th>\n",
       "      <td>3p deletion syndrome</td>\n",
       "      <td>3p deletion syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>95095</th>\n",
       "      <td>46 XX Gonadal dysgenesis epibulbar dermoid</td>\n",
       "      <td>46 XX Gonadal dysgenesis epibulbar dermoid</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>90032</th>\n",
       "      <td>5-Nucleotidase syndrome</td>\n",
       "      <td>5-Nucleotidase syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>74374</th>\n",
       "      <td>6 alpha mercaptopurine sensitivity</td>\n",
       "      <td>6 alpha mercaptopurine sensitivity</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>51486</th>\n",
       "      <td>ACTH-independent macronodular adrenal hyperplasia</td>\n",
       "      <td>ACTH-independent macronodular adrenal hyperplasia</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>26334</th>\n",
       "      <td>AIDS Dementia Complex</td>\n",
       "      <td>AIDS Dementia Complex</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>12881</th>\n",
       "      <td>AIDS dysmorphic syndrome</td>\n",
       "      <td>AIDS dysmorphic syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>77859</th>\n",
       "      <td>ALK+ histiocytosis</td>\n",
       "      <td>ALK+ histiocytosis</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>26275</th>\n",
       "      <td>ALS-like syndrome of encephalomyopathy</td>\n",
       "      <td>ALS-like syndrome of encephalomyopathy</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>60831</th>\n",
       "      <td>Abderhalden Kaufmann Lignac syndrome</td>\n",
       "      <td>Abderhalden Kaufmann Lignac syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>10975</th>\n",
       "      <td>Abdominal chemodectomas with cutaneous angioli...</td>\n",
       "      <td>Abdominal chemodectomas with cutaneous angioli...</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>108580</th>\n",
       "      <td>Abdominal cystic lymphangioma</td>\n",
       "      <td>Abdominal cystic lymphangioma</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>94496</th>\n",
       "      <td>Aberrant subclavian artery</td>\n",
       "      <td>Aberrant subclavian artery</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>93116</th>\n",
       "      <td>Abidi X-linked mental retardation syndrome</td>\n",
       "      <td>Abidi X-linked mental retardation syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>40555</th>\n",
       "      <td>Absence of fingerprints congenital milia</td>\n",
       "      <td>Absence of fingerprints congenital milia</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>7562</th>\n",
       "      <td>Absence of gluteal muscle</td>\n",
       "      <td>Absence of gluteal muscle</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>6259</th>\n",
       "      <td>Absence of tibia with polydactyly</td>\n",
       "      <td>Absence of tibia with polydactyly</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>75137</th>\n",
       "      <td>Absent T lymphocytes</td>\n",
       "      <td>Absent T lymphocytes</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>49480</th>\n",
       "      <td>Absent breasts and nipples</td>\n",
       "      <td>Absent breasts and nipples</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>56640</th>\n",
       "      <td>Abuse dwarfism syndrome</td>\n",
       "      <td>Abuse dwarfism syndrome</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>8138</th>\n",
       "      <td>Acanthamoeba infection</td>\n",
       "      <td>Acanthamoeba infection</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>...</th>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "      <td>...</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>25120</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99948</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0008961]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>21037</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99949</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011113]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>17454</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99950</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011085]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>20779</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99951</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011527]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>70495</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99952</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>94070</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99953</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011534]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>82089</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99954</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>106842</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99955</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011066]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>99610</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99956</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0011475]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>10190</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99960</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>100192</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99961</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>30752</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99965</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>51288</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99966</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>24502</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99967</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>102919</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99969</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>79112</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99970</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>17426</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99971</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>15059</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99976</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>65846</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99977</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>6381</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99978</td>\n",
       "      <td>None</td>\n",
       "      <td>[MONDO:0003345]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3759</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99981</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>3847</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99983</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>85668</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99989</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>4382</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99990</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>45866</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99991</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>21041</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99994</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>65561</th>\n",
       "      <td>http://www.orpha.net/ORDO/Orphanet_99995</td>\n",
       "      <td>None</td>\n",
       "      <td>[]</td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>43256</th>\n",
       "      <td>http://www.w3.org/2000/01/rdf-schema#seeAlso</td>\n",
       "      <td>seeAlso</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>21673</th>\n",
       "      <td>http://www.w3.org/2002/07/owl#Thing</td>\n",
       "      <td>None</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "    <tr>\n",
       "      <th>15400</th>\n",
       "      <td>http://www.w3.org/2002/07/owl#topObjectProperty</td>\n",
       "      <td>None</td>\n",
       "      <td></td>\n",
       "    </tr>\n",
       "  </tbody>\n",
       "</table>\n",
       "<p>110240 rows × 3 columns</p>\n",
       "</div>"
      ],
      "text/plain": [
       "                                                       id  \\\n",
       "18057                           16p11.2 deletion syndrome   \n",
       "105646        2-Methylacetoacetyl CoA thiolase deficiency   \n",
       "41905           2-hydroxyethyl methacrylate sensitization   \n",
       "29133                        22q11.2 duplication syndrome   \n",
       "100428                          22q13.3 deletion syndrome   \n",
       "96122                              2q37 deletion syndrome   \n",
       "88482       3 Methylcrotonyl-CoA carboxylase 1 deficiency   \n",
       "34501   3 alpha methylcrotonyl-CoA carboxylase 2 defic...   \n",
       "85670    3-alpha hydroxyacyl-CoA dehydrogenase deficiency   \n",
       "77929                                3p deletion syndrome   \n",
       "95095          46 XX Gonadal dysgenesis epibulbar dermoid   \n",
       "90032                             5-Nucleotidase syndrome   \n",
       "74374                  6 alpha mercaptopurine sensitivity   \n",
       "51486   ACTH-independent macronodular adrenal hyperplasia   \n",
       "26334                               AIDS Dementia Complex   \n",
       "12881                            AIDS dysmorphic syndrome   \n",
       "77859                                  ALK+ histiocytosis   \n",
       "26275              ALS-like syndrome of encephalomyopathy   \n",
       "60831                Abderhalden Kaufmann Lignac syndrome   \n",
       "10975   Abdominal chemodectomas with cutaneous angioli...   \n",
       "108580                      Abdominal cystic lymphangioma   \n",
       "94496                          Aberrant subclavian artery   \n",
       "93116          Abidi X-linked mental retardation syndrome   \n",
       "40555            Absence of fingerprints congenital milia   \n",
       "7562                            Absence of gluteal muscle   \n",
       "6259                    Absence of tibia with polydactyly   \n",
       "75137                                Absent T lymphocytes   \n",
       "49480                          Absent breasts and nipples   \n",
       "56640                             Abuse dwarfism syndrome   \n",
       "8138                               Acanthamoeba infection   \n",
       "...                                                   ...   \n",
       "25120            http://www.orpha.net/ORDO/Orphanet_99948   \n",
       "21037            http://www.orpha.net/ORDO/Orphanet_99949   \n",
       "17454            http://www.orpha.net/ORDO/Orphanet_99950   \n",
       "20779            http://www.orpha.net/ORDO/Orphanet_99951   \n",
       "70495            http://www.orpha.net/ORDO/Orphanet_99952   \n",
       "94070            http://www.orpha.net/ORDO/Orphanet_99953   \n",
       "82089            http://www.orpha.net/ORDO/Orphanet_99954   \n",
       "106842           http://www.orpha.net/ORDO/Orphanet_99955   \n",
       "99610            http://www.orpha.net/ORDO/Orphanet_99956   \n",
       "10190            http://www.orpha.net/ORDO/Orphanet_99960   \n",
       "100192           http://www.orpha.net/ORDO/Orphanet_99961   \n",
       "30752            http://www.orpha.net/ORDO/Orphanet_99965   \n",
       "51288            http://www.orpha.net/ORDO/Orphanet_99966   \n",
       "24502            http://www.orpha.net/ORDO/Orphanet_99967   \n",
       "102919           http://www.orpha.net/ORDO/Orphanet_99969   \n",
       "79112            http://www.orpha.net/ORDO/Orphanet_99970   \n",
       "17426            http://www.orpha.net/ORDO/Orphanet_99971   \n",
       "15059            http://www.orpha.net/ORDO/Orphanet_99976   \n",
       "65846            http://www.orpha.net/ORDO/Orphanet_99977   \n",
       "6381             http://www.orpha.net/ORDO/Orphanet_99978   \n",
       "3759             http://www.orpha.net/ORDO/Orphanet_99981   \n",
       "3847             http://www.orpha.net/ORDO/Orphanet_99983   \n",
       "85668            http://www.orpha.net/ORDO/Orphanet_99989   \n",
       "4382             http://www.orpha.net/ORDO/Orphanet_99990   \n",
       "45866            http://www.orpha.net/ORDO/Orphanet_99991   \n",
       "21041            http://www.orpha.net/ORDO/Orphanet_99994   \n",
       "65561            http://www.orpha.net/ORDO/Orphanet_99995   \n",
       "43256        http://www.w3.org/2000/01/rdf-schema#seeAlso   \n",
       "21673                 http://www.w3.org/2002/07/owl#Thing   \n",
       "15400     http://www.w3.org/2002/07/owl#topObjectProperty   \n",
       "\n",
       "                                                    label    mapped_equivs  \n",
       "18057                           16p11.2 deletion syndrome                   \n",
       "105646        2-Methylacetoacetyl CoA thiolase deficiency                   \n",
       "41905           2-hydroxyethyl methacrylate sensitization                   \n",
       "29133                        22q11.2 duplication syndrome                   \n",
       "100428                          22q13.3 deletion syndrome                   \n",
       "96122                              2q37 deletion syndrome                   \n",
       "88482       3 Methylcrotonyl-CoA carboxylase 1 deficiency                   \n",
       "34501   3 alpha methylcrotonyl-CoA carboxylase 2 defic...                   \n",
       "85670    3-alpha hydroxyacyl-CoA dehydrogenase deficiency                   \n",
       "77929                                3p deletion syndrome                   \n",
       "95095          46 XX Gonadal dysgenesis epibulbar dermoid                   \n",
       "90032                             5-Nucleotidase syndrome                   \n",
       "74374                  6 alpha mercaptopurine sensitivity                   \n",
       "51486   ACTH-independent macronodular adrenal hyperplasia                   \n",
       "26334                               AIDS Dementia Complex                   \n",
       "12881                            AIDS dysmorphic syndrome                   \n",
       "77859                                  ALK+ histiocytosis                   \n",
       "26275              ALS-like syndrome of encephalomyopathy                   \n",
       "60831                Abderhalden Kaufmann Lignac syndrome                   \n",
       "10975   Abdominal chemodectomas with cutaneous angioli...                   \n",
       "108580                      Abdominal cystic lymphangioma                   \n",
       "94496                          Aberrant subclavian artery                   \n",
       "93116          Abidi X-linked mental retardation syndrome                   \n",
       "40555            Absence of fingerprints congenital milia                   \n",
       "7562                            Absence of gluteal muscle                   \n",
       "6259                    Absence of tibia with polydactyly                   \n",
       "75137                                Absent T lymphocytes                   \n",
       "49480                          Absent breasts and nipples                   \n",
       "56640                             Abuse dwarfism syndrome                   \n",
       "8138                               Acanthamoeba infection                   \n",
       "...                                                   ...              ...  \n",
       "25120                                                None  [MONDO:0008961]  \n",
       "21037                                                None  [MONDO:0011113]  \n",
       "17454                                                None  [MONDO:0011085]  \n",
       "20779                                                None  [MONDO:0011527]  \n",
       "70495                                                None               []  \n",
       "94070                                                None  [MONDO:0011534]  \n",
       "82089                                                None               []  \n",
       "106842                                               None  [MONDO:0011066]  \n",
       "99610                                                None  [MONDO:0011475]  \n",
       "10190                                                None               []  \n",
       "100192                                               None               []  \n",
       "30752                                                None               []  \n",
       "51288                                                None               []  \n",
       "24502                                                None               []  \n",
       "102919                                               None               []  \n",
       "79112                                                None               []  \n",
       "17426                                                None               []  \n",
       "15059                                                None               []  \n",
       "65846                                                None               []  \n",
       "6381                                                 None  [MONDO:0003345]  \n",
       "3759                                                 None               []  \n",
       "3847                                                 None               []  \n",
       "85668                                                None               []  \n",
       "4382                                                 None               []  \n",
       "45866                                                None               []  \n",
       "21041                                                None               []  \n",
       "65561                                                None               []  \n",
       "43256                                             seeAlso                   \n",
       "21673                                                None                   \n",
       "15400                                                None                   \n",
       "\n",
       "[110240 rows x 3 columns]"
      ]
     },
     "execution_count": 22,
     "metadata": {},
     "output_type": "execute_result"
    }
   ],
   "source": [
    "## unmapped (TODO this includes unmapped from MONDO/HP to R, which we don't care about so much)\n",
    "udf.to_csv('rare-no-matches.tsv', sep=\"\\t\", index=False)\n",
    "udf"
   ]
  },
  {
   "cell_type": "code",
   "execution_count": null,
   "metadata": {},
   "outputs": [],
   "source": []
  }
 ],
 "metadata": {
  "kernelspec": {
   "display_name": "Python 3",
   "language": "python",
   "name": "python3"
  }
 },
 "nbformat": 4,
 "nbformat_minor": 2
}