In [1]:
import sys, os
sys.path.insert(0, "/home/gstupp/projects/wikidata-biothings/scheduled_bots")
sys.path.insert(0, "/home/gstupp/projects/WikidataIntegrator/")

In [14]:
import json
from collections import defaultdict
import pytablewriter
import pandas as pd
pd.options.display.max_colwidth = 0
from collections import OrderedDict
from scheduled_bots.ontology.DOID_obographs_bot import *
json_path='doid.json'

In [3]:
with open(json_path) as f:
    d = json.load(f)
graphs = {g['id']: g for g in d['graphs']}
graph = graphs['http://purl.obolibrary.org/obo/doid.owl']
do = DOGraph(graph, None, True)

In [4]:
d = defaultdict(set)
for node in do.nodes.values():
    for xref in node.xrefs:
        d[xref].add(node.id)

In [5]:
dupes = sorted({k:v for k,v in d.items() if len(v)>1}.items(), key=lambda x:len(x[1]), reverse=True)
len(dupes)


Out[5]:
1496

In [6]:
dupe_key = defaultdict(dict)
for k,v in dupes:
    prefix, _id = k.split(":", 1)
    dupe_key[prefix][_id] = v

In [7]:
{k:len(v) for k,v in dupe_key.items()}


Out[7]:
{'CSP': 1,
 'ICD10CM': 280,
 'ICD9CM': 35,
 'ICDCM10': 1,
 'KEGG': 2,
 'MESH': 200,
 'NCI': 37,
 'OMIM': 46,
 'ORDO': 40,
 'SNOMEDCT_US_2016_03_01': 803,
 'UMLS_CUI': 51}

In [8]:
dupe_key['ORDO']


Out[8]:
{'101046': {'http://purl.obolibrary.org/obo/DOID_0060748',
  'http://purl.obolibrary.org/obo/DOID_0060751',
  'http://purl.obolibrary.org/obo/DOID_0060754'},
 '103908': {'http://purl.obolibrary.org/obo/DOID_0060777',
  'http://purl.obolibrary.org/obo/DOID_0060781'},
 '137783': {'http://purl.obolibrary.org/obo/DOID_0060560',
  'http://purl.obolibrary.org/obo/DOID_0060653'},
 '140957': {'http://purl.obolibrary.org/obo/DOID_0060691',
  'http://purl.obolibrary.org/obo/DOID_0090102'},
 '1496': {'http://purl.obolibrary.org/obo/DOID_0060600',
  'http://purl.obolibrary.org/obo/DOID_0090003'},
 '163717': {'http://purl.obolibrary.org/obo/DOID_0060749',
  'http://purl.obolibrary.org/obo/DOID_0060750',
  'http://purl.obolibrary.org/obo/DOID_0060752'},
 '169147': {'http://purl.obolibrary.org/obo/DOID_0060295',
  'http://purl.obolibrary.org/obo/DOID_0060297',
  'http://purl.obolibrary.org/obo/DOID_0060298'},
 '169150': {'http://purl.obolibrary.org/obo/DOID_0060299',
  'http://purl.obolibrary.org/obo/DOID_0060301',
  'http://purl.obolibrary.org/obo/DOID_0060302',
  'http://purl.obolibrary.org/obo/DOID_0060303',
  'http://purl.obolibrary.org/obo/DOID_8158'},
 '183666': {'http://purl.obolibrary.org/obo/DOID_0060758',
  'http://purl.obolibrary.org/obo/DOID_0060759',
  'http://purl.obolibrary.org/obo/DOID_0060760'},
 '1896': {'http://purl.obolibrary.org/obo/DOID_0060782',
  'http://purl.obolibrary.org/obo/DOID_0060783',
  'http://purl.obolibrary.org/obo/DOID_0060784'},
 '221061': {'http://purl.obolibrary.org/obo/DOID_0060670',
  'http://purl.obolibrary.org/obo/DOID_0060671'},
 '2254': {'http://purl.obolibrary.org/obo/DOID_0060265',
  'http://purl.obolibrary.org/obo/DOID_0060266'},
 '231183': {'http://purl.obolibrary.org/obo/DOID_0110828',
  'http://purl.obolibrary.org/obo/DOID_0110829'},
 '2440': {'http://purl.obolibrary.org/obo/DOID_0090020',
  'http://purl.obolibrary.org/obo/DOID_0090021',
  'http://purl.obolibrary.org/obo/DOID_0090022',
  'http://purl.obolibrary.org/obo/DOID_0090023',
  'http://purl.obolibrary.org/obo/DOID_0090025',
  'http://purl.obolibrary.org/obo/DOID_0090026',
  'http://purl.obolibrary.org/obo/DOID_0090027'},
 '2524': {'http://purl.obolibrary.org/obo/DOID_0060267',
  'http://purl.obolibrary.org/obo/DOID_0060268',
  'http://purl.obolibrary.org/obo/DOID_0060269',
  'http://purl.obolibrary.org/obo/DOID_0060270'},
 '2542': {'http://purl.obolibrary.org/obo/DOID_0060835',
  'http://purl.obolibrary.org/obo/DOID_0060836',
  'http://purl.obolibrary.org/obo/DOID_0060838',
  'http://purl.obolibrary.org/obo/DOID_0060839',
  'http://purl.obolibrary.org/obo/DOID_0060840',
  'http://purl.obolibrary.org/obo/DOID_0060841',
  'http://purl.obolibrary.org/obo/DOID_0060842'},
 '254913': {'http://purl.obolibrary.org/obo/DOID_0050768',
  'http://purl.obolibrary.org/obo/DOID_0060332',
  'http://purl.obolibrary.org/obo/DOID_0060333'},
 '256': {'http://purl.obolibrary.org/obo/DOID_0060730',
  'http://purl.obolibrary.org/obo/DOID_0090058'},
 '280763': {'http://purl.obolibrary.org/obo/DOID_0110799',
  'http://purl.obolibrary.org/obo/DOID_0110802',
  'http://purl.obolibrary.org/obo/DOID_0110803',
  'http://purl.obolibrary.org/obo/DOID_0110804'},
 '282': {'http://purl.obolibrary.org/obo/DOID_0060672',
  'http://purl.obolibrary.org/obo/DOID_9255'},
 '3107': {'http://purl.obolibrary.org/obo/DOID_0060765',
  'http://purl.obolibrary.org/obo/DOID_0060766',
  'http://purl.obolibrary.org/obo/DOID_0060767'},
 '3152': {'http://purl.obolibrary.org/obo/DOID_0060251',
  'http://purl.obolibrary.org/obo/DOID_0060756',
  'http://purl.obolibrary.org/obo/DOID_0060757'},
 '3197': {'http://purl.obolibrary.org/obo/DOID_0060695',
  'http://purl.obolibrary.org/obo/DOID_0060696',
  'http://purl.obolibrary.org/obo/DOID_0060697',
  'http://purl.obolibrary.org/obo/DOID_0060698'},
 '323': {'http://purl.obolibrary.org/obo/DOID_0060821',
  'http://purl.obolibrary.org/obo/DOID_14711'},
 '33226': {'http://purl.obolibrary.org/obo/DOID_0050747',
  'http://purl.obolibrary.org/obo/DOID_0060901'},
 '34527': {'http://purl.obolibrary.org/obo/DOID_0060882',
  'http://purl.obolibrary.org/obo/DOID_0060884'},
 '391411': {'http://purl.obolibrary.org/obo/DOID_0060891',
  'http://purl.obolibrary.org/obo/DOID_0060894'},
 '47045': {'http://purl.obolibrary.org/obo/DOID_0090061',
  'http://purl.obolibrary.org/obo/DOID_0090062',
  'http://purl.obolibrary.org/obo/DOID_0090065'},
 '478': {'http://purl.obolibrary.org/obo/DOID_0090070',
  'http://purl.obolibrary.org/obo/DOID_3614'},
 '7': {'http://purl.obolibrary.org/obo/DOID_0060565',
  'http://purl.obolibrary.org/obo/DOID_0060571',
  'http://purl.obolibrary.org/obo/DOID_0060572'},
 '75376': {'http://purl.obolibrary.org/obo/DOID_0060745',
  'http://purl.obolibrary.org/obo/DOID_0060746'},
 '756': {'http://purl.obolibrary.org/obo/DOID_0060854',
  'http://purl.obolibrary.org/obo/DOID_0060855'},
 '768': {'http://purl.obolibrary.org/obo/DOID_0060173',
  'http://purl.obolibrary.org/obo/DOID_2843'},
 '862': {'http://purl.obolibrary.org/obo/DOID_4890',
  'http://purl.obolibrary.org/obo/DOID_4990'},
 '90636': {'http://purl.obolibrary.org/obo/DOID_0050565',
  'http://purl.obolibrary.org/obo/DOID_0110489'},
 '97360': {'http://purl.obolibrary.org/obo/DOID_0060254',
  'http://purl.obolibrary.org/obo/DOID_0060764',
  'http://purl.obolibrary.org/obo/DOID_0060765',
  'http://purl.obolibrary.org/obo/DOID_0060766',
  'http://purl.obolibrary.org/obo/DOID_0060767'},
 '98809': {'http://purl.obolibrary.org/obo/DOID_0090053',
  'http://purl.obolibrary.org/obo/DOID_0090054'},
 '98810': {'http://purl.obolibrary.org/obo/DOID_0090047',
  'http://purl.obolibrary.org/obo/DOID_0090049'},
 '98819': {'http://purl.obolibrary.org/obo/DOID_0060753',
  'http://purl.obolibrary.org/obo/DOID_0060755'},
 '99772': {'http://purl.obolibrary.org/obo/DOID_0110214',
  'http://purl.obolibrary.org/obo/DOID_674'}}

In [23]:
ordo_url = "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert="
df = pd.DataFrame([{'notes': '', 'ordo': ordo_url + k, "do": "\n".join("{} ({})".format(do.nodes[x].lbl,x) if x in do.nodes else "*" for x in v )} for k,v in dupe_key['ORDO'].items()])
df = df[['ordo', 'do', 'notes']]

In [24]:
writer = pytablewriter.MarkdownTableWriter()
writer.header_list = list(df.columns.values)
writer.value_matrix = df.values.tolist()
writer.write_table()


|                               ordo                                |                                                                                                                                                                                                                                                                           do                                                                                                                                                                                                                                                                           |notes|
|-------------------------------------------------------------------|--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|-----|
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33226 |Waldenstroem's macroglobulinemia (http://purl.obolibrary.org/obo/DOID_0060901) lymphoplasmacytic lymphoma (http://purl.obolibrary.org/obo/DOID_0050747)                                                                                                                                                                                                                                                                                                                                                                                                 |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=103908|congenital secretory sodium diarrhea 8 (http://purl.obolibrary.org/obo/DOID_0060777) congenital secretory sodium diarrhea 3 (http://purl.obolibrary.org/obo/DOID_0060781)                                                                                                                                                                                                                                                                                                                                                                               |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=47045 |familial cold autoinflammatory syndrome 1 (http://purl.obolibrary.org/obo/DOID_0090062) familial cold autoinflammatory syndrome (http://purl.obolibrary.org/obo/DOID_0090061) familial cold autoinflammatory syndrome 4 (http://purl.obolibrary.org/obo/DOID_0090065)                                                                                                                                                                                                                                                                                   |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98810 |paroxysmal nonkinesigenic dyskinesia 2 (http://purl.obolibrary.org/obo/DOID_0090047) paroxysmal nonkinesigenic dyskinesia 1 (http://purl.obolibrary.org/obo/DOID_0090049)                                                                                                                                                                                                                                                                                                                                                                               |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280763|hereditary spastic paraplegia 50 (http://purl.obolibrary.org/obo/DOID_0110802) hereditary spastic paraplegia 52 (http://purl.obolibrary.org/obo/DOID_0110804) hereditary spastic paraplegia 51 (http://purl.obolibrary.org/obo/DOID_0110803) hereditary spastic paraplegia 47 (http://purl.obolibrary.org/obo/DOID_0110799)                                                                                                                                                                                                                             |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98809 |episodic kinesigenic dyskinesia 2 (http://purl.obolibrary.org/obo/DOID_0090054) episodic kinesigenic dyskinesia 1 (http://purl.obolibrary.org/obo/DOID_0090053)                                                                                                                                                                                                                                                                                                                                                                                         |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2254  |pontocerebellar hypoplasia type 1B (http://purl.obolibrary.org/obo/DOID_0060266) pontocerebellar hypoplasia type 1A (http://purl.obolibrary.org/obo/DOID_0060265)                                                                                                                                                                                                                                                                                                                                                                                       |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3152  |sclerosteosis 1 (http://purl.obolibrary.org/obo/DOID_0060756) sclerosteosis 2 (http://purl.obolibrary.org/obo/DOID_0060757) sclerosteosis (http://purl.obolibrary.org/obo/DOID_0060251)                                                                                                                                                                                                                                                                                                                                                                 |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231183|retinitis pigmentosa-deafness syndrome (http://purl.obolibrary.org/obo/DOID_0110829) Usher syndrome type 3 (http://purl.obolibrary.org/obo/DOID_0110828)                                                                                                                                                                                                                                                                                                                                                                                                |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=256   |torsion dystonia with onset in infancy (http://purl.obolibrary.org/obo/DOID_0090058) torsion dystonia 1 (http://purl.obolibrary.org/obo/DOID_0060730)                                                                                                                                                                                                                                                                                                                                                                                                   |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101046|familial temporal lobe epilepsy 8 (http://purl.obolibrary.org/obo/DOID_0060754) familial temporal lobe epilepsy 1 (http://purl.obolibrary.org/obo/DOID_0060748) familial temporal lobe epilepsy 7 (http://purl.obolibrary.org/obo/DOID_0060751)                                                                                                                                                                                                                                                                                                         |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282   |Grn-related frontotemporal lobar degeneration with Tdp43 inclusions (http://purl.obolibrary.org/obo/DOID_0060672) frontotemporal dementia (http://purl.obolibrary.org/obo/DOID_9255)                                                                                                                                                                                                                                                                                                                                                                    |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391411|early-onset Parkinson disease (http://purl.obolibrary.org/obo/DOID_0060894) juvenile onset Parkinson disease 19A (http://purl.obolibrary.org/obo/DOID_0060891)                                                                                                                                                                                                                                                                                                                                                                                          |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97360 |autosomal dominant Robinow syndrome 1 (http://purl.obolibrary.org/obo/DOID_0060766) autosomal dominant Robinow syndrome 3 (http://purl.obolibrary.org/obo/DOID_0060767) autosomal recessive Robinow syndrome (http://purl.obolibrary.org/obo/DOID_0060764) autosomal dominant Robinow syndrome 2 (http://purl.obolibrary.org/obo/DOID_0060765) Robinow syndrome (http://purl.obolibrary.org/obo/DOID_0060254)                                                                                                                                           |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1496  |agenesis of the corpus callosum with peripheral neuropathy (http://purl.obolibrary.org/obo/DOID_0090003) hereditary motor and sensory neuropathy with agenesis of the corpus callosum (http://purl.obolibrary.org/obo/DOID_0060600)                                                                                                                                                                                                                                                                                                                     |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137783|lethal congenital contracture syndrome 3 (http://purl.obolibrary.org/obo/DOID_0060653) lethal congenital contracture syndrome 2 (http://purl.obolibrary.org/obo/DOID_0060560)                                                                                                                                                                                                                                                                                                                                                                           |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=862   |juvenile myoclonic epilepsy (http://purl.obolibrary.org/obo/DOID_4890) essential tremor (http://purl.obolibrary.org/obo/DOID_4990)                                                                                                                                                                                                                                                                                                                                                                                                                      |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3107  |autosomal dominant Robinow syndrome 1 (http://purl.obolibrary.org/obo/DOID_0060766) autosomal dominant Robinow syndrome 3 (http://purl.obolibrary.org/obo/DOID_0060767) autosomal dominant Robinow syndrome 2 (http://purl.obolibrary.org/obo/DOID_0060765)                                                                                                                                                                                                                                                                                             |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169150|type I complement component 8 deficiency (http://purl.obolibrary.org/obo/DOID_0060301) complement component 9 deficiency (http://purl.obolibrary.org/obo/DOID_0060303) complement component 5 deficiency (http://purl.obolibrary.org/obo/DOID_8158) complement component 6 deficiency (http://purl.obolibrary.org/obo/DOID_0060299) type II complement component 8 deficiency (http://purl.obolibrary.org/obo/DOID_0060302)                                                                                                                             |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1896  |ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 (http://purl.obolibrary.org/obo/DOID_0060784) EEC syndrome (http://purl.obolibrary.org/obo/DOID_0060782) ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (http://purl.obolibrary.org/obo/DOID_0060783)                                                                                                                                                                                                                                                          |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34527 |renal hypomagnesemia 6 (http://purl.obolibrary.org/obo/DOID_0060884) renal hypomagnesemia 4 (http://purl.obolibrary.org/obo/DOID_0060882)                                                                                                                                                                                                                                                                                                                                                                                                               |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2542  |isolated microphthalmia 7 (http://purl.obolibrary.org/obo/DOID_0060838) isolated microphthalmia 1 (http://purl.obolibrary.org/obo/DOID_0060840) isolated microphthalmia 8 (http://purl.obolibrary.org/obo/DOID_0060841) isolated microphthalmia 4 (http://purl.obolibrary.org/obo/DOID_0060836) isolated microphthalmia 3 (http://purl.obolibrary.org/obo/DOID_0060842) isolated microphthalmia 2 (http://purl.obolibrary.org/obo/DOID_0060839) isolated microphthalmia 6 (http://purl.obolibrary.org/obo/DOID_0060835)                                 |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3197  |hyperekplexia (http://purl.obolibrary.org/obo/DOID_0060695) hyperekplexia 3 (http://purl.obolibrary.org/obo/DOID_0060698) hyperekplexia 2 (http://purl.obolibrary.org/obo/DOID_0060697) hyperekplexia 1 (http://purl.obolibrary.org/obo/DOID_0060696)                                                                                                                                                                                                                                                                                                   |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=478   |hypogonadotropic hypogonadism (http://purl.obolibrary.org/obo/DOID_0090070) Kallmann syndrome (http://purl.obolibrary.org/obo/DOID_3614)                                                                                                                                                                                                                                                                                                                                                                                                                |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163717|familial temporal lobe epilepsy 6 (http://purl.obolibrary.org/obo/DOID_0060749) familial temporal lobe epilepsy 5 (http://purl.obolibrary.org/obo/DOID_0060752) familial temporal lobe epilepsy 3 (http://purl.obolibrary.org/obo/DOID_0060750)                                                                                                                                                                                                                                                                                                         |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2524  |pontocerebellar hypoplasia type 2B (http://purl.obolibrary.org/obo/DOID_0060268) pontocerebellar hypoplasia type 2C (http://purl.obolibrary.org/obo/DOID_0060269) pontocerebellar hypoplasia type 2D (http://purl.obolibrary.org/obo/DOID_0060270) pontocerebellar hypoplasia type 2A (http://purl.obolibrary.org/obo/DOID_0060267)                                                                                                                                                                                                                     |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75376 |Doyne honeycomb retinal dystrophy (http://purl.obolibrary.org/obo/DOID_0060745) basal laminar drusen (http://purl.obolibrary.org/obo/DOID_0060746)                                                                                                                                                                                                                                                                                                                                                                                                      |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254913|mitochondrial complex V (ATP synthase) deficiency nuclear type 4 (http://purl.obolibrary.org/obo/DOID_0060333) mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (http://purl.obolibrary.org/obo/DOID_0050768) mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (http://purl.obolibrary.org/obo/DOID_0060332)                                                                                                                                                                                                           |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140957|autosomal dominant macrothrombocytopenia TUBB1-related  (http://purl.obolibrary.org/obo/DOID_0090102) platelet-type bleeding disorder 16 (http://purl.obolibrary.org/obo/DOID_0060691)                                                                                                                                                                                                                                                                                                                                                                  |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169147|complement component 2 deficiency (http://purl.obolibrary.org/obo/DOID_0060295) complement component 4b deficiency (http://purl.obolibrary.org/obo/DOID_0060298) complement component 4a deficiency (http://purl.obolibrary.org/obo/DOID_0060297)                                                                                                                                                                                                                                                                                                       |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183666|immunodeficiency with hyper-IgM type 2 (http://purl.obolibrary.org/obo/DOID_0060758) immunodeficiency with hyper IgM type 5 (http://purl.obolibrary.org/obo/DOID_0060759) immunodeficiency with hyper-IgM type 4 (http://purl.obolibrary.org/obo/DOID_0060760)                                                                                                                                                                                                                                                                                          |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=756   |autosomal dominant pseudohypoaldosteronism type 1 (http://purl.obolibrary.org/obo/DOID_0060855) autosomal recessive pseudohypoaldosteronism type 1 (http://purl.obolibrary.org/obo/DOID_0060854)                                                                                                                                                                                                                                                                                                                                                        |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98819 |familial temporal lobe epilepsy 4 (http://purl.obolibrary.org/obo/DOID_0060753) familial temporal lobe epilepsy 2 (http://purl.obolibrary.org/obo/DOID_0060755)                                                                                                                                                                                                                                                                                                                                                                                         |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=7     |Ritscher-Schinzel syndrome 1 (http://purl.obolibrary.org/obo/DOID_0060571) Ritscher-Schinzel syndrome (http://purl.obolibrary.org/obo/DOID_0060565) Ritscher-Schinzel syndrome 2 (http://purl.obolibrary.org/obo/DOID_0060572)                                                                                                                                                                                                                                                                                                                          |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=323   |syndromic X-linked intellectual disability 14 (http://purl.obolibrary.org/obo/DOID_0060821) FG syndrome (http://purl.obolibrary.org/obo/DOID_14711)                                                                                                                                                                                                                                                                                                                                                                                                     |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=768   |Timothy syndrome (http://purl.obolibrary.org/obo/DOID_0060173) long QT syndrome (http://purl.obolibrary.org/obo/DOID_2843)                                                                                                                                                                                                                                                                                                                                                                                                                              |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99772 |cleft palate (http://purl.obolibrary.org/obo/DOID_674) cleft soft palate (http://purl.obolibrary.org/obo/DOID_0110214)                                                                                                                                                                                                                                                                                                                                                                                                                                  |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90636 |autosomal recessive nonsyndromic deafness 30 (http://purl.obolibrary.org/obo/DOID_0110489) autosomal recessive nonsyndromic deafness (http://purl.obolibrary.org/obo/DOID_0050565)                                                                                                                                                                                                                                                                                                                                                                      |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221061|cerebral cavernous malformation 2 (http://purl.obolibrary.org/obo/DOID_0060670) cerebral cavernous malformation 3 (http://purl.obolibrary.org/obo/DOID_0060671)                                                                                                                                                                                                                                                                                                                                                                                         |     |
|http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2440  |split hand-foot malformation 1 (http://purl.obolibrary.org/obo/DOID_0090021) split hand-foot malformation (http://purl.obolibrary.org/obo/DOID_0090020) split hand-foot malformation 5 (http://purl.obolibrary.org/obo/DOID_0090022) split hand-foot malformation 6 (http://purl.obolibrary.org/obo/DOID_0090026) split hand-foot malformation 3 (http://purl.obolibrary.org/obo/DOID_0090025) split hand-foot malformation 2 (http://purl.obolibrary.org/obo/DOID_0090027) split hand-foot malformation 4 (http://purl.obolibrary.org/obo/DOID_0090023)|     |


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