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NPDR.csv
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# pmid_reference;pmc_reference;evidence_code;disease_db;disease_name;disease_abbreviation;associated_gene_or_locus;disease_synonym;disease_id;disease_id_in_text;gene_id_in_text;hpo_name;hpo_id;hp_synonym;negation;not_abnormal;sentence;sentence_location;disease_location;gene_location;co_occurrence;comments
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tar; -;TAS;OMIM;"THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR";exact match (TAR);RBM8A; -;274000;yes;605313;absent thumbs;HP:0009777;both tumbs;NP; -;Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs and thrombocytopenia (<50 platelets/nL) that is generally transient;abstract;title, body (Summary, Diagnostics);body (Summary, Diagnosis, Clinical Characteristics, Genetically Related Disorders, Genetic Counseling, Molecular Genetics);yes (disease_name);
PMID:10430757; -;PCS;OMIM;"CARDIOMYOPATHY, DILATED, 1I; CMD1I";DCM; -;dilated cardiomyopathy;604765;no;no;elevated creatine kinase;HP:0003236;plasma creatine kinase activity; -;normal;Furthermore, plasma creatine kinase activity, a highly sensitive marker of familial skeletal muscle disease, was normal, even for carriers;body (Discussion);title, abstract, body; -;no;
PMID:10739754;PMC1288190;PCS;OMIM;"WOLFRAM SYNDROME 2; WFS2"; - ; -; -;604928;no;no;diabetes insipidus;HP:0000873;exact match;absence; -;There is an absence of diabetes insipidus in all affected family members;abstract;title, abstract, body (Introduction, Patients and Methods, Results, Discussion); -;no;
PMID:10952871;PMC1287886;PCS;OMIM;"NEMALINE MYOPATHY 5; NEM5";ANM;TNNT1;Amish nemaline myopathy;605355;no;no;low intelligence;HP:0001249;apparent intelligence; -;normal;Gross motor development is limited to roll - ing side to side, but forearm and hand function is normal, as is apparent intelligence;body (Results);title, abstract, body (Introduction);abstract, body (Subjects and Methods, Results, Discussion);no;
PMID:11113824; -;PCS;OMIM;"CHERUBISM; CRBM"; -; -; -;118400;no;no;alkaline phosphatase abnormal;HP:0004379;alkaline phosphatase;not; -;In general, cherubism does not involve other parts of the skeleton or the bone metabolism, because the biochemical bone markers serum calcium, phosphorus, and alkaline phosphatase have been found within the normal ranges with respect to age;body (DISCUSSION);abstract, body (PATIENS AND METHODS); -;yes (disease_name);
PMID:11706389;PMC384894;PCS;OMIM;"AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11";ALS; -; -;606640;no;no;degeneration of cerebellum;HP:0001272;cerebellar degeneration;no; -;There are no atypical features such as pain, dementia, sensory signs, or cerebellar degeneration;body;title, abstract, body; -;no;
PMID:11706389;PMC384894;PCS;OMIM;"AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11";ALS; -; -;606640;no;no;dementia;HP:0000726;exact match;no; -;There are no atypical features such as pain, dementia, sensory signs, or cerebellar degeneration;body;title, abstract, body; -;no;
PMID:11845408;PMC379097;PCS;OMIM;"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP"; -; -;familial life-long persistent fever;606854;no;no;dysmorphic facial features;HP:0001999;dysmorphic features;without; -;"All affected siblings have esotropia, increased muscle tone, mild truncal ataxia, and finger dysmetria, without dysmorphic features and other congenital anomalies; all show a normal karyotype";body;title, abstract, body; -;no;
PMID:11850618; -;PCS;OMIM;"DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7"; -;TMC1;familial life-long persistent fever;600974;no;no;vestibular dysfunction;HP:0001751;vestibular deficits;no; -;Affected individuals had no evidence of vestibular deficits in their developmental and medical histories or upon physical examination;body (Results);title, abstract, body (Introduction, Results);title, abstract, body (Introduction, Results, Discussion, Methods);no;
PMID:11868161;PMC379124;PCS;OMIM;"NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD";exact match (NFRCD);RLBP1; -;607476;no;180090;bone spicule pigmentation of the retina;HP:0007737;bone spicule pigmentation;not; -;Bone spicule pigmentation, characteristic of RP, is not seen, disks are either normal or minimally pale until a late stage, and only mild attenuation of retinal vessels is observable until the disease is advanced;body (Results);title, abstract, body (Introduction);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);no;
PMID:1190822;PMC1545639;PCS;OMIM;MUCUS INSPISSATION OF RESPIRATORY TRACT; - ; -; -;253240;no;no;abnormal sweat electrolytes;HP:0040128;sweat electrolytes; - ;normal;Because of the unique clinical and radiological course, as well as the normal sweat electrolyte values, we would characterize this disease as familial non-cystic fibrosis mucus inspissation of the respiratory tract;body (Discussion);title, body (DISCUSSION); -;yes (disease_name);
PMID:1190822;PMC1545639;PCS;OMIM;MUCUS INSPISSATION OF RESPIRATORY TRACT; - ; -; -;253240;no;no;abnormal sweat electrolytes;HP:0040128;sweat electrolytes; - ;normal;Sweat electrolytes were normal;body (Case reports);title, body (DISCUSSION); -;no;
PMID:11982762; -;PCS;OMIM;"KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3";SPPK;KRT1;striate palmoplantar keratoderma;607654;no;no;abnormality of the nail;HP:0001597;nail; - ;normal;There was no involvement of nonpalmoplantar skin, however, and both hair and nails were normal;body (RESULTS);title, abstract, body (RESULTS, DISCUSSION);body (RESULTS);no;
PMID:11982762; -;PCS;OMIM;"KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3";SPPK;KRT1;striate palmoplantar keratoderma;607654;no;no;hair abnormality;HP:0001595;hair; - ;normal;There was no involvement of nonpalmoplantar skin, however, and both hair and nails were normal;body (RESULTS);title, abstract, body (RESULTS, DISCUSSION);body (RESULTS);no;
PMID:12142464;PMC124905;PCS;OMIM;"CILIARY DYSKINESIA, PRIMARY, 7; CILD7";PCD;DNAH11;ciliary dyskinesia;611884;no;no;abnormal axonemal organization of respiratory motile cilia;HP:0012258;dysmotile or immotile cilia; -;normal;Yet other cases have structurally normal but dysmotile or immotile cilia;body;title, abstract, body (Material and Methods, Results and Discussion);title, abstract, body (Material and Methods, Results and Discussion);no;
PMID:12471561;PMC420014;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40"; -;CRYM;nonsyndromic deafness , deafness;616357;no;123740;muscular abnormality;HP:0003011;muscular;no; -;There is no vestibular, visual, renal, or muscular involvement for all affected individuals with the CRYM mutations ;body (Results);"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";yes (gene);
PMID:12471561;PMC420014;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40"; -;CRYM;nonsyndromic deafness , deafness;616357;no;123740;renal anomaly;HP:0000077;renal;no; -;There is no vestibular, visual, renal, or muscular involvement for all affected individuals with the CRYM mutations ;body (Results);"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";yes (gene);
PMID:12471561;PMC420014;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40"; -;CRYM;nonsyndromic deafness , deafness;616357;no;123740;vestibular dysfunction;HP:0001751;vestibular;no; -;There is no vestibular, visual, renal, or muscular involvement for all affected individuals with the CRYM mutations ;body (Results);"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";yes (gene);
PMID:12471561;PMC420014;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40"; -;CRYM;nonsyndromic deafness , deafness;616357;no;123740;visual impairment;HP:0000505;visual;no; -;There is no vestibular, visual, renal, or muscular involvement for all affected individuals with the CRYM mutations ;body (Results);"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";"title, abstract, body (Introduction; Family, Material and Methods, Discussion)";yes (gene);
PMID:14684683;PMC1735333;PCS;OMIM;"PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A";PPK; -;type I punctate palmoplantar keratoderma ;148600;yes;no;abnormality of the nail;HP:0001597;nail abnormalities;no; -;Finally, there were no nail abnormalities ;body (RESULTS);abstract, body; -;no;
PMID:14702087; -;IEA;OMIM;BRADYOPSIA; -;RGS9; -;608415;no;no;abnormal color vision;HP:0000551;colour vision ; -;normal;Colour vision, tested with Ishihara plates, the Farnsworth D -15 panel (saturated and desaturated), and the Farnsworth–Munsell 100 -hue test, was normal (not every test was performed on each patient);body;abstract, body;title, abstract, body;no;
PMID:14982824; -;PCS;OMIM;"CILIARY DYSKINESIA, PRIMARY, 12; CILD12"; -; -; -;612650;no;no;situs inversus totalis;HP:0001696;situs inversus;absence; -;In addition, this defect, together with the transposition defect, may help explain the mechanism of the circular beat pattern and also the absence of situs inversus in these patients ;abstract;title, abstract, body (DISCUSSION); -;no;
PMID:15280904; -;PCS;OMIM;"HYPERFERRITINEMIA WITH OR WITHOUT CATARACT;;HYPERFERRITINEMIA -CATARACT SYNDROME;;HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS";exact match (HHCS);FTL;Hereditary hyperferritinaemia cataract syndrome;600886;yes;no;abnormal serum iron;HP:0040130;iron deficiency; -; -;Family members with HHCS in this, and other series showed no consistent evidence of iron deficiency so this abnormality is unlikely to be part of the HHCS phenotype;body (Discussion);title, abstract, body (Introduction, Results, Discussion);abstract, body (Introduction, Methods, Results, Discussion);no;
PMID:15280904; -;PCS;OMIM;"HYPERFERRITINEMIA WITH OR WITHOUT CATARACT;;HYPERFERRITINEMIA -CATARACT SYNDROME;;HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS";exact match (HHCS);FTL;familial life-long persistent fever;600886;yes;no;abnormal transferrin saturation;HP:0040135;serum transferrin saturation ;none; -;Although all the probands had increased serum L - ferritin concentration, there were no clinical features of iron overload and none showed elevated serum transferrin saturation ;body (Results);title, abstract, body (Introduction, Results, Discussion);abstract, body (Introduction, Methods, Results, Discussion);no;
PMID:15461630; -;PCS;OMIM;"PREKALLIKREIN DEFICIENCY; PKK DEFICIENCY; FLETCHER FACTOR DEFICIENCY";PK deficiency; -; -;612423;no;no;abnormal bleeding;HP:0001892;exact match;no; -;An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT);abstract;title, abstract, body (Discussion); -;no;
PMID:15637723;PMC2909100;PCS;OMIM;"DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46";ARNSD;DFNB46 (exact match disease_name);autosomal recessive nonsyndromic deafness;609647;no;no;mental retardation;HP:0001249;syndrome;no; -;There was no evidence in this kindred that deafness belonged to a syndrome or that there was gross vestibular involvement;body (MATERIALS AND METHODS);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;
PMID:15637723;PMC2909100;PCS;OMIM;"DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46";ARNSD;DFNB46 (exact match disease_name);autosomal recessive;609647;no;no;absent vestibular function;HP:0008555;gross vestibular involvement;no; -;There was no evidence in this kindred that deafness belonged to a syndrome or that there was gross vestibular involvement;body (MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;
PMID:15841483; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31; WHIRLER, MOUSE, HOMOLOG OF";exact match (DFNB31);WHRN;deafness;607084;yes;no;absent vestibular functions;HP:0008555;vestibular deffects;no; -;In particular, no vestibular defects were detected;body (MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS AND DISCUSSION);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS AND DISCUSSION);no;
PMID:15945070; -;PCS;OMIM;"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L";CDG -IL;ALG9; -;608776;no;no;abnormal facial shape;HP:0001999;dysmorphic facial features;absent; -;Lipodystrophy and dysmorphic facial features were absent;abstract;abstract, body (INTRODUCTION, RESULTS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS AND DISCUSSION);no;
PMID:15945070; -;PCS;OMIM;"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L";CDG -IL;ALG9; -;608776;no;no;lipodystrophy;HP:0009125;exact match;absent; -;Lipodystrophy and dysmorphic facial features were absent;abstract;abstract, body (INTRODUCTION, RESULTS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS AND DISCUSSION);no;
PMID:15958501;PMC2564639;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53";ADNSSHL;DFNA53 (exact match disease_name);autosomal dominant non-syndromic deafness, autosomal dominant non-syndromic sensorineural hearing loss, autosomal dominant non-syndromic hearing loss;609965;no;no;vestibular dysfunction;HP:0001751; exact match;none; -;Although, there is some similarity in the audiograms of DFNA53 patients in comparison with those of patients with DFNA9, none of the affected members (14 to 67 years of age) in the DFNA53 family showed vestibular dysfunction;body (Discussion);title, abstract, body (METHODS, DISCUSSION);title, abstract, body (METHODS, RESULTS, DISCUSSION);yes (gene);
PMID:16098016;PMC2910366;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55";ARNSHI ;DFNB55 (exact match disease_name);Autosomal recessive non-syndromic hearing impairment;609952;no;no;abnormal retina;HP:0000479;syndrome;no; -;There was no evidence in this kindred that HI belonged to a syndrome or that there was gross vestibular involvement;body (Materials and methods);title, abstract, body (Material and methods, Discussion);title, abstract, body (Materials and methods, Results, Discussion);no;
PMID:16098016;PMC2910366;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55";ARNSHI ;DFNB55 (exact match disease_name);Autosomal recessive non-syndromic hearing impairment;609952;no;no;vestibular dysfunction;HP:0001751;vestivular involvement;no; -;There was no evidence in this kindred that HI belonged to a syndrome or that there was gross vestibular involvement;body (Materials and methods);title, abstract, body (Material and methods, Discussion);title, abstract, body (Materials and methods, Results, Discussion);no;
PMID:16261342;PMC2909103;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47";ARNSHI ;DFNB47 (exact match disease_name);Autosomal recessive non-syndromic hearing impairment;609946;no;no;abnormal retina;HP:0000479;visual loss;not; -;Physical examination of hearing -impaired individuals did not reveal any syndromic features, such as maxillofacial or limb deformities, visual loss and mental deficiency;body (Materials and methods);title, abstract, body (Introduction, Discussion);title, abstract, body (Introduction, Results, Discussion);no;
PMID:16261342;PMC2909103;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47";ARNSHI ;DFNB47 (exact match disease_name);Autosomal recessive non-syndromic hearing impairment;609946;no;no;mental deficiency;HP:0001249; exact match;not; -;Physical examination of hearing -impaired individuals did not reveal any syndromic features, such as maxillofacial or limb deformities, visual loss and mental deficiency;body (Materials and methods);title, abstract, body (Introduction, Discussion);title, abstract, body (Introduction, Results, Discussion);no;
PMID:16261342;PMC2909103;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47";ARNSHI ;DFNB47 (exact match disease_name);Autosomal recessive non-syndromic hearing impairment;609946;no;no;vestibular dysfunction;HP:0001751;vestivular involvement;no; -;In addition, no gross vestibular involvement was noted in the clinical history and physical examination;body (Materials and methods);title, abstract, body (Introduction, Discussion);title, abstract, body (Introduction, Results, Discussion);no;
PMID:16328510; -;PCS;OMIM;"PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF";PD; -;Early-onset Parkinson’s disease ;600116;no;602544;dementia;HP:0000726;exact match ;none; -;Apart from individual #210, none of the patients suffered from psychiatric or behavioural disturbances and none had dementia;body (Results);title, abstract, body (Introduction,Methods, Results, Discussion); -;no;
PMID:16328510; -;PCS;OMIM;"PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF";PD; -;Early-onset Parkinson’s disease;600116;no;602544;behavioural/psychiatric abnormalities;HP:0000708;psychiatric or behavioural disturbances;none; -;Apart from individual #210, none of the patients suffered from psychiatric or behavioural disturbances and none had dementia;body (Results);title, abstract, body (Introduction, Discussion); -;no;
PMID:16459341;PMC2564584;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67";exact match (DFNB67); -;deafness, hearing loss, non-syndromic hearing loss, non-syndromic deafness;610265;no;no;abnormality of the kidney;HP:0000077;renal anomalies;no; -;Clinical evaluation revealed no ophthalmological, skin, or renal anomalies;body (RESULTS);abstract, body (RESULTS, DISCUSSION); -;no;
PMID:16459341;PMC2564584;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67";exact match (DFNB67); -;deafness, hearing loss, non-syndromic hearing loss, non-syndromic deafness;610265;no;no;vestibular dysfunction;HP:0001751;exact match;no; -;No vestibular dysfunction was detected using tandem gait or Romberg testing;body (RESULTS);abstract, body (RESULTS, DISCUSSION); -;no;
PMID:16575392; -;TAS;OMIM;"DOWLING-DEGOS DISEASE 1; DDD1;; DDD; RETICULAR PIGMENT ANOMALY OF FLEXURES";RPAF; -;reticulate pigmented anomaly of the flexures;179850;no;no;palmar pits;HP:0010610;pits on the palm;not; -;However, we did not find typical characteristic pits on the palms ;body (DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS); -;no;
PMID:16575392; -;TAS;OMIM;"DOWLING -DEGOS DISEASE 3; DDD3"; -; -; -;615674;no;no;palmar pits;HP:0010610;pits on the palm;not; -;However, we did not find typical characteristic pits on the palms ;body (DISCUSSION);abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:16928994; -;PCS;OMIM;LOEYS -DIETZ SYNDROME, TYPE 1A LOEYS -DIETZ AORTIC ANEURYSM SYNDROME; -; -; -;609192;yes;no;ectopia lentis;HP:0001083;exact match;no; -;No patient had ectopia lentis, and few patients (18 percent) had dolichostenomelia, findings that are typical of Marfan’s syndrome;body (METHODS);abstract, body (METHODS, RESULTS, DISCUSSION); -;no;
PMID:17066295; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63";exact match (DFNB63); -;autosomal recessive nonsyndromic deafness, recessive deafness, deafness;611451;no;no;abnormality of the kidney;HP:0000077;renal anomalies;no; -;Although not rigorously tested using posturography and a rotary chair, vestibular function appeared to be normal in affected individuals and clinical evaluation suggested no skin or renal anomalies;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:17066295; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63";exact match (DFNB63); -;autosomal recessive nonsyndromic deafness, recessive deafness, deafness;611451;no;no;retinits pigmentosa;HP:0000510;exact match;no; -;Funduscopic examinations of affected individuals showed no signs of retinitis pigmentosa;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:17066295; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63";exact match (DFNB63); -;autosomal recessive nonsyndromic deafness, recessive deafness, deafness;611451;no;no;vestibular dysfunction;HP:0001751;vestibular function; -;normal;Although not rigorously tested using posturography and a rotary chair, vestibular function appeared to be normal in affected individuals and clinical evaluation suggested no skin or renal anomalies;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:17273967;PMC1821100;PCS;OMIM;"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11"; -;ST14; autosomal recessive ichthyosis syndrome;602400;yes;no;abnormality of the nail;HP:0001597;nails; - ;normal;The nails and mucosa were normal;body (Subjects and Methods);title, abstract, body (Subjects and Methods, Discussion);title, abstract, body (Subjects and Methods, Discussion);no;
PMID:17285242; -;PCS;OMIM;"MEGALOBLASTIC ANEMIA 1; MGA1";exact_match (MGA1);CUBN;megaloblastic anaemia type 1, megaloblastic anaemia 1;261100;yes;no;abnormal serum folate;HP:0040086;serum folate level; - ;normal;"For the nine Tunisian MGA1 patients reported in the present study, the diagnosis of MGA1 was based on the following established criteria (Gra ̈ sbeck et al. 1960; Imerslund 1960; Broch et al. 1984): (a) appearance of megaloblastic anaemia within the first 8 years of life (age range 9–84 months), (b2) low serum Vit B12 levels by radioimmunoassay, (c3) normal serum folate level, (d4) no evidence of radiological and endoscopic digestive tract abnormalities, (e5) proteinuria was de - tected in all cases except one in our series, MA2 pa - tient, (f6) and complete haematological response to regular injections of parenteral Vit B12, (g7) The dual - isotope Schilling test allowed confirmation of MGA1 by revealing intestinal malabsorption of labelled Vit B12, not corrected by the addition of an exogenous intrinsic factor";body (Results);title, abstract, body (Introduction, Results, Discussion);abstract, body (Introduction, Patients and methods, Results, Discussion);yes (disease_abbreviation);
PMID:17285242; -;PCS;OMIM;"MEGALOBLASTIC ANEMIA 1; MGA1";exact_match (MGA1);CUBN;megaloblastic anaemia type 1, megaloblastic anaemia 0;261100;yes;no;abnormal serum folate;HP:0040086;folate level; - ;normal;Patients were diagnosed on the basis of the association of clinical symptoms, low serum Vit B12 level and normal folate level in vitamins assays assessed by radioimmunoassay methods (Simultrac, SNB–ICN pharmaceuticals);body (Patients and methods);title, abstract, body (Introduction, Results, Discussion);abstract, body (Introduction, Patients and methods, Results, Discussion);no;
PMID:17431681; -;PCS;OMIM;"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4";JME; -;juvenile myoclonic epilepsy;611364;no;no;absence seizures;HP:0002121;exact match;lack of; -;While, a major apparent difference of phenotypes observed in Family 3 reported here and JME families analyzed in earlier studies, is nearly complete lack of absence seizures and photoparoxysmal response in Family 3, manifestations of the early morning myoclonic seizures, generalized tonic–clonic seizures and generalized polyspike wave discharges are common clinical phenotypes found in all or almost all of the aVected members of these families;body (Discussion);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;yes (disease_abbreviation);
PMID:17431681; -;PCS;OMIM;"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4";JME; -;juvenile myoclonic epilepsy;611364;no;no;febrile seizures;HP:0002373;exact match;no; -; -;body (Table 1);title, abstract, body (Introduction, Materials and methods, Table 1, Results, Discussion); -;no;
PMID:17503326;PMC1867096;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44"; exact match (DFNA44);CCDC50;deafness, hearing loss;607453;yes;no;vestibular dysfunction;HP:0001751; exact match;no; -;No evidence of either vestibular dysfunction or tinnitus has been reported in the patients with DFNA44 hearing loss;body;abstract, body (Results, Discussion);title, abstract, body (Materials and Methods, Results, Discussion);yes (disease_abbreviation);
PMID:17503326;PMC1867096;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44"; exact match (DFNA44);CCDC50;deafness;607453;yes;no;inner ear abnormality;HP:0000359;inner ear malformations;rules out; -;In addition, CT rules out inner ear malformations as the cause of deafness;body;abstract, body (Results, Discussion);title, abstract, body (Materials and Methods, Results, Discussion);no;
PMID:17503326;PMC1867096;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44"; exact match (DFNA44);CCDC50;deafness;607453;yes;no;tinnitus;HP:0000360; exact match;no; -;No evidence of either vestibular dysfunction or tinnitus has been reported in the patients with DFNA44 hearing loss;body;abstract, body (Results, Discussion);title, abstract, body (Materials and Methods, Results, Discussion);yes (disease_abbreviation);
PMID:17661825; -;PCS;OMIM;"MICROPHTHALMIA, ISOLATED 2; MCOP2"; -;CHX10; -;610093;yes;no;abnormal facial shape;HP:0001999;facial features; -;normal;Their cranial and facial features, height and weight were within normal limits, and these patients displayed nor mal intelligence;body;title, body;title, body;no;
PMID:17661825; -;PCS;OMIM;"MICROPHTHALMIA, ISOLATED 2; MCOP2"; -;CHX10; -;610093;yes;no;dull intelligence;HP:0001249;intelligence; -;normal;Their cranial and facial features, height and weight were within normal limits, and these patients displayed nor mal intelligence;body;title, body;title, body;no;
PMID:17710231;PMC1940239;PCS;OMIM;"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3"; -;KL;tumoral calcinosis ;617994;no;no;kidney stones;HP:0000787;exact match;negative; -;She denied polyuria or polydipsia, and her past medical history was negative for fractures or kidney stones;body (Results);title, abstract, body (Introduction, Discussion, Methods);abstract, body (Introduction, Results, Methods);no;
PMID:17710231;PMC1940239;PCS;OMIM;"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3"; -;KL;tumoral calcinosis ;617994;no;no;polydipsia;HP:0001959;exact match;negative; -;She denied polyuria or polydipsia, and her past medical history was negative for fractures or kidney stones;body (Results);title, abstract, body (Introduction, Discussion, Methods);abstract, body (Introduction, Results, Methods);no;
PMID:17710231;PMC1940239;PCS;OMIM;"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3"; -;KL; hyperphosphatemic familial tumoral calcinosis, tumoral calcinosis ;617994;no;no;polyuria;HP:0000103;exact match;negative; -;She denied polyuria or polydipsia, and her past medical history was negative for fractures or kidney stones;body (Results);title, abstract, body (Introduction, Discussion, Methods);abstract, body (Introduction, Results, Methods);no;
PMID:18179891;PMC2253958;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35";ARNSHI;ESRRB;Autosomal recessive nonsyndromic hearing impairment;608565;yes;602167;abnormal ear morphology;HP:0031703;morphological feature;no; -;In the affected family members, there were no indications of a visual problem, kidney failure, or morphological features that suggested a syndromic form of hearing loss;body (Results);title, abstract, body (Introduction);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);no;
PMID:18179891;PMC2253958;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35";ARNSHI;ESRRB;Autosomal recessive nonsyndromic hearing impairment;608565;yes;602167;abnormality of vision;HP:0000504;visual problem;no; -;In the affected family members, there were no indications of a visual problem, kidney failure, or morphological features that suggested a syndromic form of hearing loss;body (Results);title, abstract, body (Introduction);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);no;
PMID:18179891;PMC2253958;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35";ARNSHI;ESRRB;Autosomal recessive nonsyndromic hearing impairment;608565;yes;602167;impaired vestibular function;HP:0001751;vestibular function;no; -;For these two individuals, computerized tomography of the temporal bone and caloric testing for evaluation of the vestibular function were performed, and no abnormalities were found;body (Results);title, abstract, body (Introduction);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);no;
PMID:18304496;PMC2427214;PCS;OMIM;"CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG"; -;SLC16A12; -;612018;no;no;abnormality of the kidney;HP:0000077;morphological renal anomalies;without; -;Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies;abstract;title, abstract, body;title, abstract, body;no;
PMID:18304496;PMC2427214;PCS;OMIM;"CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG"; -;SLC16A12; -;612018;no;no;hyperglycemia;HP:0003074;exact match;without; -;Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies;abstract;title, abstract, body;title, abstract, body;no;
PMID:18325041;PMC2747313;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45";"exact match (DFNB45); NSHI; HI"; -;autosomal-recessive nonsyndromic hearing impairment, hearing loss, hearing impairment;612433;no;no;vestibular dysfunction;HP:0001751;vestivular involvement;no; -;There was no evidence that the HI is syndromic or that there is gross vestibular involvement;body;title, body; -;yes (disease_abbreviation);
PMID:18657636; -;PCS;OMIM;"TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1"; -;EDA;tooth agenesis;313500;no;300451;abnormality of shape of tooth;HP:0006482;shape of teeth; - ;normal;The proband had several deciduous teeth missing, but the shape of the residual teeth appeared normal;body (Materials and methods);title, abstract, body (Material and methods, Discussion);title, abstract, body (Introduction, Material and methods, Results, Discussion);no;
PMID:18657636; -;PCS;OMIM;"TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1"; - ;EDA;tooth agenesis;313500;no;300451;heat intolerance;HP:0002046;intolerance to heat;no; -;There were also no complaints about intolerance to heat and susceptibility to respiratory tract infections;body (Materials and methods);title, abstract, body (Material and methods, Discussion);title, abstract, body (Introduction, Material and methods, Results, Discussion);no;
PMID:18657636; -;PCS;OMIM;"TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1"; - ;EDA;tooth agenesis;313500;no;300451;respiratory tract infections;HP:0011947; exact match ;no; -;There were also no complaints about intolerance to heat and susceptibility to respiratory tract infections;body (Materials and methods);title, abstract, body (Material and methods, Discussion);title, abstract, body (Introduction, Material and methods, Results, Discussion);no;
PMID:19118816;PMC2668033;PCS;OMIM;"AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11";ALS;FIG4; -;612577;no;no;decreased nerve conduction velocity;HP:0000762;conduction velocities; -;normal;The ALS and PLS cases have normal conduction velocities and striking corticospinal-tract signs;body;title, abstract, body, supplementary material (Table S1);title, abstract, body, supplementary material (Table S1);yes (disease_abbreviation);relation table in supplementary materials
PMID:19118816;PMC2668033;PCS;OMIM;"AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11";ALS;FIG4; -;612577;no;no;dementia;HP:0000726;exact match;absence; -;The ALS patients and adult-onset CMT4J patients both exhibit asymmetric progression, absence of sensory symptoms, and the absence of dementia;body;title, abstract, body, supplementary material (Table S1);title, abstract, body, supplementary material (Table S1);yes (disease_abbreviation);relation table in supplementary materials
PMID:19118816;PMC2668033;PCS;OMIM;"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J";exact match (CMT4J);FIG4; -;611228;yes;no;dementia;HP:0000726;exact match;absence; -;The ALS patients and adult-onset CMT4J patients both exhibit asymmetric progression, absence of sensory symptoms, and the absence of dementia;body;abstract, body, supplementary material (Table S1);title, abstract, body, supplementary material (Table S1);yes (disease_abbreviation);relation table in supplementary materials
PMID:19118816;PMC2668033;PCS;OMIM;"AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11";ALS;FIG4; -;612577;no;no;sensory impairment;HP:0003474;sensory symptoms;absence; -;The ALS patients and adult-onset CMT4J patients both exhibit asymmetric progression, absence of sensory symptoms, and the absence of dementia;body;title, abstract, body, supplementary material (Table S1);title, abstract, body, supplementary material (Table S1);yes (disease_abbreviation);relation table in supplementary materials
PMID:19118816;PMC2668033;PCS;OMIM;"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J";exact match (CMT4J);FIG4; -;611228;yes;no;sensory impairment;HP:0003474;sensory symptoms;absence; -;The ALS patients and adult-onset CMT4J patients both exhibit asymmetric progression, absence of sensory symptoms, and the absence of dementia;body;title, abstract, body, supplementary material (Table S1);title, abstract, body, supplementary material (Table S1);yes (disease_abbreviation);relation table in supplementary materials
PMID:19206169;PMC4028130;PCS;OMIM;"NOONAN SYNDROME 7; NS7";NS;BRAF; -;613706;no;164757;epicanthal fold;HP:0000286; skin anomalies;absent; -;Of note, CFCS-related skin anomalies, polydramnios and HCM were absent in all the subjects;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:19206169;PMC4028130;PCS;OMIM;"NOONAN SYNDROME 7; NS7";NS;BRAF; -;613706;no;164757;hypertrophic cardiomyopathy;HP:0001639;HCM;absent; -;Of note, CFCS-related skin anomalies, polydramnios and HCM were absent in all the subjects;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:19206169;PMC4028130;PCS;OMIM;"NOONAN SYNDROME 7; NS7";NS;BRAF; -;613706;no;164757;polyhydramnios;HP:0001561;exact match;absent; -;In these individuals, however, polyhydramnios, HCM, and CFCS-related skin features are uncommon or absent, and cardiac defects, neurological impairment and feeding problems appear to be less severe compared to what is generally observed in CFCS ;body (Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:19206169;PMC4028130;PCS;OMIM;"LEOPARD SYNDROME 3; LPRD3";LS;BRAF; -;613707;no;164757;tetralogy of Fallot;HP:0001636;"hypertrophic cardiomyopathy; polyvalvular dysplasia; pulmonary valve stenosis";no; -; -;Supplemental Data (SUPP. TABLE S1);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;from HPO: A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
PMID:19409520;PMC2681000;PCS;OMIM;"NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD";NBS;RAD50; -;613078;no;no;decreased antibody level in blood;HP:0004313;immunoglobulin levels; -;normal;At variance with this diagnosis, she never had severe infections, had normal immunoglobulin levels, and did not develop lymphoid malignancy up to age 23 years ;abstract;title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials (Table S2);title, abstract, body (Materials and methods, Results, Discussion), supplementary materials (Table S2);no;relation table in supplementary materials
PMID:19425169;PMC2673872;PCS;OMIM;"LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1"; -;ITK;EBV-associated lymphoproliferative ;613011;no;no;hemophagocytosis;HP:0012156;exact match; -;normal;BM aspirate was normal, with no evidence for lymphoma infiltration, histiocytosis, or hemophagocytosis ;body (Results);abstract, body (Introduction, Discussion);abstract, body (Introduction,Results, Discussion, Methods);no;
PMID:19425169;PMC2673872;PCS;OMIM;"LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1"; -;ITK;EBV-associated lymphoproliferative ;613011;no;no;histiocytosis;HP:0100727;exact match; -;normal;BM aspirate was normal, with no evidence for lymphoma infiltration, histiocytosis, or hemophagocytosis ;body (Results);abstract, body (Introduction, Discussion);abstract, body (Introduction,Results, Discussion, Methods);no;
PMID:19425169;PMC2673872;PCS;OMIM;"LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1"; -;ITK;EBV-associated lymphoproliferative ;613011;no;no;lymphoma;HP:0002665;exact match; -;normal;BM aspirate was normal, with no evidence for lymphoma infiltration, histiocytosis, or hemophagocytosis ;body (Results);abstract, body (Introduction, Discussion);abstract, body (Introduction,Results, Discussion, Methods);no;
PMID:19615667;PMC2725238;PCS;OMIM;"METAPHYSEAL ANADYSPLASIA 2; MANDP2";MAD;MMP9; -;613073;no;120361;micromelia;HP:0002983;exact match; -;normal;Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia;body (Introduction);title, abstract, body (Introduction,Subjects and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;no;
PMID:19732867;PMC2771534;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77";exact match (DFNB77);LOXHD1;familial life-long persistent fever;613079;no;no;tinnitus;HP:0000360;exact match;free of; -;All affected individuals reported age- appropriate developmental motor milestones for sitting and walking and remained free of tinnitus, balance disorders, or vertigo, consistent with normal vestibular function ;body (Results);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:19732867;PMC2771534;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77";exact match (DFNB77);LOXHD1;familial life-long persistent fever;613079;no;no;vertigo;HP:0002321;exact match;free of; -;All affected individuals reported age- appropriate developmental motor milestones for sitting and walking and remained free of tinnitus, balance disorders, or vertigo, consistent with normal vestibular function ;body (Results);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:19732867;PMC2771534;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77";exact match (DFNB77);LOXHD1;familial life-long persistent fever;613079;no;no;vestibular dysfunction;HP:0001751;vestibular function; -;normal;All affected individuals reported age- appropriate developmental motor milestones for sitting and walking and remained free of tinnitus, balance disorders, or vertigo, consistent with normal vestibular function ;body (Results);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:19878917;PMC2775833;PCS;OMIM;"OCCULT MACULAR DYSTROPHY; OCMD";CSNB;TRPM1;Complete Congenital Stationary Night Blindness ;613216;no;no;abnormality of skin pigmentation;HP:0001000;abnormalities of skin pigmentation;none; -;None had abnormalities of skin pigmentation, although other skin conditions were reported ;abstract;title, abstract, body;title, abstract, body, supplementary materials;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormal eyelash morphology;HP:0000499;eyelashes; -; -;Interestingly eyebrows and eyelashes were not affected in any of the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormal facial shape;HP:0001999;facial dysmorphisms;not; -;Neurological problems and facial dysmorphisms were not observed in any of the affected individuals;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormality of the nail;HP:0001597;nails; -;normal;Teeth, nails, sweating and hearing were normal in all the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; - ;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormality of the nervous system;HP:0000707;neurological problems;not; -;Neurological problems and facial dysmorphisms were not observed in any of the affected individuals;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormality of the sweat gland;HP:0000971;sweating; -;normal;Teeth, nails, sweating and hearing were normal in all the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;abnormality of the teeth;HP:0000164;teeth; -;normal;Teeth, nails, sweating and hearing were normal in all the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;sparse and thin eyebrow;HP:0000535;eyebrows;not; -;Interestingly eyebrows and eyelashes were not affected in any of the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;sparse eyebrow;HP:0045075;eyebrows;not; -;Interestingly eyebrows and eyelashes were not affected in any of the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20054564; -;PCS;OMIM;"HYPOTRICHOSIS 9; HYPT9"; -; -; -;614237;no;no;thin eyebrow;HP:0045074;eyebrows;not; -;Interestingly eyebrows and eyelashes were not affected in any of the affected individuals ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion); -;no;
PMID:20091385; -;PCS;OMIM;"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"; -; -;amegakaryocytic thrombocytopenia;616738;no;no;cafe-au-lait spot;HP:0000957;exact match;no; -;He had no hepatosplenomegaly, lymphadenopathy, or cafe-au-lait spot, but had hydrocele testicle, sensorineural hearing loss, and overlapping fingers without abnormalities of bone;body;title, body; -;no;
PMID:20091385; -;PCS;OMIM;"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"; -; -;amegakaryocytic thrombocytopenia;616738;no;no;hepatosplenomegaly;HP:0001433;exact match;no; -;He had no hepatosplenomegaly, lymphadenopathy, or cafe-au-lait spot, but had hydrocele testicle, sensorineural hearing loss, and overlapping fingers without abnormalities of bone;body;title, body; -;no;
PMID:20091385; -;PCS;OMIM;"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"; -; -;amegakaryocytic thrombocytopenia;616738;no;no;lymphadenopathy;HP:0002716;exact match;no; -;He had no hepatosplenomegaly, lymphadenopathy, or cafe-au-lait spot, but had hydrocele testicle, sensorineural hearing loss, and overlapping fingers without abnormalities of bone;body;title, body; -;no;
PMID:20137778;PMC2820176;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25";exact match (DFNB25);GRXCR1 ;autosomal-recessive nonsyndromic hearing impairment, hearing loss, hearing impairment;613285;no;no;vestibular dysfunction;HP:0001751;exact match;not; -;Vestibular dysfunction was observed in some but not all affected individuals ;abstract;title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion);no;
PMID:20683927; -;PCS;OMIM;"BRACHYDACTYLY, TYPE A1, C; BDA1C"; BDA1;GDF5 ;familial life-long persistent fever;615072;no;601146;fibular hypoplasia;HP:0003038;exact match;not; -;Additionally, the two affected sisters who were both 5 feet tall (fifth centile) were treated for clubfeet as children and their X-rays did not demonstrate fibula hypoplasia ;body (Results);title, abstract, body (Introduction ,Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;disease_name is not referred in the text, instead it came from associated_gene_or_locus (GDF5)
PMID:20826268;PMC2933341;PCS;OMIM;"OCCULT MACULAR DYSTROPHY; OCMD; OMD";exact match (OMD);RP1L1; -;613587;no;608581;abnormal full-field electroretinogram;HP:0030466;full-field electroretinogram; -;normal;Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina ;abstract;title, abstract, body;title, abstract, body;yes (disease_abbreviation);
PMID:20826268;PMC2933341;PCS;OMIM;"OCCULT MACULAR DYSTROPHY; OCMD; OMD";exact match (OMD);RP1L1; -;613587;no;608581;abnormal fundus fluorescein angiography;HP:0030604;fluorescein angiography; -;normal;Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina ;abstract;title, abstract, body;title, abstract, body;yes (disease_abbreviation);
PMID:21057262;PMC3103888;PCS;OMIM;"MYD88 DEFICIENCY; MYD88D";exact match (MYD88);MYD88 (exact match disease_name); -;612260;no;no;abnormality of natural killer cell number;HP:0040089;NK cells; -; -; -;body (Table 2, Table 3);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);no;
PMID:21057262;PMC3103888;PCS;OMIM;"MYD88 DEFICIENCY; MYD88D";exact match (MYD88);MYD88 (exact match disease_name); -;612260;no;no;decrease in T cell count;HP:0005403;T cells; -; -; -;body (Table 2, Table 3);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);no;
PMID:21057262;PMC3103888;PCS;OMIM;"MYD88 DEFICIENCY; MYD88D";exact match (MYD88);MYD88 (exact match disease_name); -;612260;no;no;low b cell count;HP:0010976;B cells; -; -; -;body (Table 2, Table 3);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);no;
PMID:21205713; -;PCS;OMIM;"PULMONARY ALVEOLAR PROTEINOSIS 5; SMDP5;; CSF2RB DEFICIENCY";PAP;CSF2RB ;familial life-long persistent fever;614370;no;no;anti-granulocyte-macrophage colony stimulating factor antibody positivity;HP:0020050; GM-CSF auto-antibody ;negative; -;A GM-CSF auto-antibody test was negative and the serum GM-CSF level was increased (25.9 pg?mL-1) suggesting GM-CSF receptor dysfunction as the molecular basis of PAP ;body;title, abstract, body;title, abstract, body;no;
PMID:21629298;PMC3198153;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29; MRT29";ID; -;intellectual disability ;614333;no;no;autism;HP:0000717;autistic symptoms;no; -;Neonatal muscular hypotonia, mild motor delay, severe ID, no speech, understanding better, no autistic symptoms, MRI and further detailed examinations unremarkable;body (Table 1);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS AND DISCUSSION); -;no;
PMID:21660509;PMC3303183;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15;; DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72;; DEAFNESS, AUTOSOMAL RECESSIVE 95; DFNB95";"exact match (DFNB15; DFNB72); HL";GIPC3;hearing loss;601869;no;no;impaired vision;HP:0000505;retinal dysfunction;not; -;Hearing loss in these families was not accompanied by obvious vestibular dysfunction, retinal dysfunction, or report of other anomalies;body (Results);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Material and methods, Results, Discussion);no;
PMID:21660509;PMC3303183;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15;;DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72;;DEAFNESS, AUTOSOMAL RECESSIVE 95; DFNB96";"exact match (DFNB15; DFNB72); HL";GIPC3;hearing loss;601869;no;no;vestibular dysfunction;HP:0001751; exact match;not; -;Hearing loss in these families was not accompanied by obvious vestibular dysfunction, retinal dysfunction, or report of other anomalies;body (Results);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Material and methods, Results, Discussion);no;
PMID:21998596;PMC3188555;PCS;OMIM;"SECKEL SYNDROME 2; SCKL2";"exact match (SCKL2); SS";RBBP8; -;606744;no;no;receding foreheads;HP:0000340;exact match;not; -;Narrow, not receding, forehead and prominent noses;body (Table 1);abstract, body (Introduction, Discussion);abstract, Author Summary;no;
PMID:22422768;PMC3363337;PCS;OMIM;"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5";CPVT;TRDN;catecholaminergic polymorphic ventricular tachycardia;615441;no;603283;abnormal cardiac exercise stress test;HP:0500018;exercise stress tests ;not; -;The parents and the brother of the proband were considered healthy as their resting ECG, Holter recordings and exercise stress tests did not show any abnormality;body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);no;
PMID:22422768;PMC3363337;PCS;OMIM;"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5";CPVT;TRDN;catecholaminergic polymorphic ventricular tachycardia;615441;no;603283;abnormal ECG;HP:0003115;resting ECG; -;normal;Resting ECG was normal with no prolongation of the QT interval ;body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);no;
PMID:22422768;PMC3363337;PCS;OMIM;"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5";CPVT;TRDN;catecholaminergic polymorphic ventricular tachycardia;615441;no;603283;prolonged QT interval;HP:0001657;prolongation of QT interval;no; -;Resting ECG was normal with no prolongation of the QT interval;body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);title, abstract, body (INTRODUCTION, RESULTS, MATERIALS AND METHODS);no;
PMID:22744658; -;PCS;OMIM;"SPINOCEREBELLAR ATAXIA 36; SCA36";exact match (SCA36);NOP56; -;614153;no;no;depression;HP:0000716;exact match;no; -;No patients complained of depression or other mood disorders ;body (RESULTS);title, abstract, body (METHODS, RESULTS, DISCUSSION);abstract, body (METHODS, RESULTS, DISCUSSION);no;
PMID:22744658; -;PCS;OMIM;"SPINOCEREBELLAR ATAXIA 36; SCA36";exact match (SCA36);NOP56; -;614153;no;no;impaired vibratory sensation;HP:0002495;decreased vibration or position sense;not; -;However, patients with SCA36 did not show the decreased vibration or position sense that was seen in 60% of patients with SCA23 ;body (DISCUSSION);title, abstract, body (METHODS, RESULTS, DISCUSSION);abstract, body (METHODS, RESULTS, DISCUSSION);yes (disease_abbreviation);
PMID:22744658; -;PCS;OMIM;"SPINOCEREBELLAR ATAXIA 36; SCA36";exact match (SCA36);NOP56; -;614153;no;no;parkinsonism;HP:0001300;exact match;not; -;Superficial and deep sensory disturbance, parkinsonism, and urinary disturbance were not found;body (RESULTS);title, abstract, body (METHODS, RESULTS, DISCUSSION);abstract, body (METHODS, RESULTS, DISCUSSION);no;
PMID:22744658; -;PCS;OMIM;"SPINOCEREBELLAR ATAXIA 36; SCA36";exact match (SCA36);NOP56; -;614153;no;no;peripheral neuropathy ;HP:0009830;exact match;no; -;In agreement with the normal NCS findings, no patients had peripheral neuropathy ;body (DISCUSSION);title, abstract, body (METHODS, RESULTS, DISCUSSION);abstract, body (METHODS, RESULTS, DISCUSSION);no;
PMID:22744658; -;PCS;OMIM;"SPINOCEREBELLAR ATAXIA 36; SCA36";exact match (SCA36);NOP56; -;614153;no;no;torticollis;HP:0000473;spasmodic torticollis;not ; -;Similarly, spasmodic torticollis, which is characteristically found in 44% of patients with SCA35, was not ob- served in patients with SCA36;body (DISCUSSION);title, abstract, body (METHODS, RESULTS, DISCUSSION);abstract, body (METHODS, RESULTS, DISCUSSION);yes (disease_abbreviation);
PMID:22772368;PMC3616632;TAS;OMIM;"LOEYS -DIETZ SYNDROME, TYPE 4; LDS4; ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETALMANIFESTATIONS";LDS;TGFB2; -;614816;no;no;ectopia lentis;HP:0001083;exact match;not; -;Ectopia lentis was not observed ;body;abstract;title, abstract, body (Online Methods), supplementary materials;no;
PMID:22863194;PMC3415547;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 4; ETM4";ET;FUS;essential tremor;614782;no;137070;amyotrophic lateral sclerosis;HP:0007354;ALS;no; -;"Interestingly, individuals affected by ET have been reported to have an increased genetic risk of developing Parkinson disease;37 however, there is no direct link between ET and ALS, although it might be noteworthy that a rapid voice tremor has been reported as an extrapyramidal symptom in some cases of ALS";body (Discussion);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;yes (disease_abbreviation);
PMID:22863194;PMC3415547;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 4; ETM4";ET;FUS;essential tremor;614782;no;137070;parkinsonism;HP:0001300;exact match; -; -;"Comorbidity of ALS with frontotemporal lobe dementia (FTD [MIM 600274]) and parkinsonism (PD [MIM 168601]) has suggested that these conditions might share a common pathogenesis; overlapping FUS mutations have now been found in individuals with ALS/FTD, FTD and ALS/PD; FUS inclusions have also been seen in FTD-affected individuals";body (Discussion);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;yes (gene);
PMID:22939636;PMC3511998;PCS;OMIM;"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP";PMG;RTTN;polymicrogyria ;614816;no;610436;abnormal auditory evoked potentials;HP:0006958;BAEP; -;normal; -;body (Table 1);body;title, abstract, body, supplementary material;no;
PMID:22939636;PMC3511998;PCS;OMIM;"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP";PMG;RTTN;polymicrogyria ;614816;no;610436;elevated serum creatine phosphokinase;HP:0003236;CPK; -;normal; -;body (Table 1);body;title, abstract, body, supplementary material;no;
PMID:22939636;PMC3511998;PCS;OMIM;"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP";PMG;RTTN;polymicrogyria ;614833;no;610436;situs inversus totalis;HP:0001696;situs solitus ; -;normal;normal, situs solitus ;body (Table 1);body;title, abstract, body;no;
PMID:23063621;PMC3487122;PCS;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormal sebaceous gland morphology;HP:0032226;sebaceous glands;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23063621;PMC3487122;PCS;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormal sweat gland morphology;HP:0000971;sweat glands;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23063621;PMC3487122;IEA;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormality of the eye;HP:0000478;eyes;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23063621;PMC3487122;PCS;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormality of the nervous system;HP:0000707;nervous system;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23063621;PMC3487122;PCS;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormality of the skeletal system;HP:0000924;skeleton;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23063621;PMC3487122;PCS;OMIM;"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9";PHNED;HOXC13;pure hair and nail ectodermal dysplasia;614931;no;142976;abnormality of the teeth;HP:0000164;teeth;no; -;No abnormalities of the nervous system, skeleton, sweat glands, sebaceous glands, eyes, or teeth were observed ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;no;
PMID:23084290;PMC3487123;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70"; -;PNPT1;autosomal-recessive nonsyndromic hearing impairment, hearing loss, hearing impairment;614934;no;no;cognitive impairment;HP:0100543;cognitive disturbances;no; -;Clinical examinations revealed no obvious additional symptoms, such as vestibular dysfunction, cognitive or motor disturbances, or signs of metabolic diseases, in any of the affected individuals, leading to the classification of nonsyndromic hearing impairment (the oldest individual was 24 years of age at the last examination) ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;yes (disease_synonym);
PMID:23084290;PMC3487123;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70"; -;PNPT1;autosomal-recessive nonsyndromic hearing impairment, hearing loss, hearing impairment;614934;no;no;functional motor problems;HP:0004302;motor disturbances;no; -;Clinical examinations revealed no obvious additional symptoms, such as vestibular dysfunction, cognitive or motor disturbances, or signs of metabolic diseases, in any of the affected individuals, leading to the classification of nonsyndromic hearing impairment (the oldest individual was 24 years of age at the last examination) ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;yes (disease_synonym);
PMID:23084290;PMC3487123;IEA;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70"; -;PNPT1;autosomal-recessive nonsyndromic hearing impairment, hearing loss, hearing impairment;614934;no;no;vestibular dysfunction;HP:0001751;exact match;no; -;Clinical examinations revealed no obvious additional symptoms, such as vestibular dysfunction, cognitive or motor disturbances, or signs of metabolic diseases, in any of the affected individuals, leading to the classification of nonsyndromic hearing impairment (the oldest individual was 24 years of age at the last examination) ;body;title, abstract, body, supplementary material;title, abstract, body, supplementary material;yes (disease_synonym);
PMID:23404334;PMC3580273;IEA;OMIM;"MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15"; -;ALG14;familial life-long persistent fever;616227;no;no;acetylcholine receptor antibody positivity;HP:0030208; antibodies to acetylcholine receptor;negative; -;A tensilon test was strongly positive, and antibodies to acetylcholine receptor and MuSK were negative;body (RESULTS);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:23434115;PMC3591851;PCS;OMIM;"BLEEDING DISORDER, PLATELET -TYPE, 15; BDPLT15";CMTP;ACTN1;congenital macrothrombocytopenia ;615193;no;102575;abnormal platelet function;HP:0011869;platelet aggregation ;no; -;In addition, no apparent in vitro defects in platelet functions, including normal platelet aggregation (Table 1), clot retraction, and platelet spreading on glass surfaces, were noted in ACTN1-mutated individuals ;body;title, abstract, body;title, abstract, body, supplementary materials;yes (gene);
PMID:23434115;PMC3591851;PCS;OMIM;MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED;CMTP;ACTN1;congenital macrothrombocytopenia ;615193;no;102575;impaired ADP-induced platelet aggregation;HP:0004866;platelet aggregation ;no; -;In addition, no apparent in vitro defects in platelet functions, including normal platelet aggregation (Table 1), clot retraction, and platelet spreading on glass surfaces, were noted in ACTN1-mutated individuals;body;title, abstract, body, supplementary materials;title, abstract, body, supplementary materials;yes (gene);most of the time the name of the disease present in the text does not correspond to the accurate term (i.e. to the name of the disease in the OMIM database that is associated to the gene described in the text), because a broader disease term is used. For example: in PMID:23434115 the article talks about the gene ACTN1 and links it to the Congenital Macrothrombocytopenia disease, but the accurate term (present in the OMIM databse) is actually BLEEDING DISORDER, PLATELET-TYPE
PMID:23434115;PMC3591851;PCS;OMIM;"BLEEDING DISORDER, PLATELET -TYPE, 15; BDPLT15";CMTP;ACTN1;congenital macrothrombocytopenia ;615193;no;102575;prolonged bleeding time;HP:0003010;bleeding time; -;normal;Bleeding diathesis was absent or mild if present: only two individuals (15%) experienced occasional epistaxis, and the bleeding time was within the normal limit ;body;title, abstract, body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:24131138;PMC4084693;IEA;OMIM;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE; -; -;candidiasis;212050;no;no;abnormal b cell count;HP:0010975;b-lymphocyte subset; -;normal;Normal B-lymphocyte subset ;body (Table 2), supplementary materials;body (RESULTS, DISCUSSION), supplementary materials; -;no;negative relation sentence can also be found in supplementary materials
PMID:24131138;PMC4084693;IEA;OMIM;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE; -; -;candidiasis;212050;no;no;abnormal nk cell count;HP:0040089; nk-lymphocyte subset; -;normal;Normal NK-lymphocyte subset ;body (Table 2), supplementary materials;body (RESULTS, DISCUSSION), supplementary materials; -;no;negative relation sentence can also be found in supplementary materials
PMID:24131138;PMC4084693;IEA;OMIM;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE; -; -;candidiasis;212050;no;no;abnormal proportion of cd4+ t cells;HP:0031392;cd4+ t-lymphocyte subset; -;normal;Normal CD4+ T-lymphocyte subset ;body (Table 2), supplementary materials;body (RESULTS, DISCUSSION), supplementary materials; -;no;negative relation sentence can also be found in supplementary materials
PMID:24131138;PMC4084693;IEA;OMIM;CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE; -; -;candidiasis;212050;no;no;abnormal proportion of cd8+ t cells;HP:0031393;cd8+ t-lymphocyte subset; -;normal;Normal CD8+ T-lymphocyte subset;body (Table 2), supplementary materials;body (RESULTS, DISCUSSION), supplementary materials; -;no;negative relation sentence can also be found in supplementary materials
PMID:24156255;PMC3826550;PCS;OMIM;"IMERSLUND-GRASBECK SYNDROME 2; IGS2";IGS;AMN; -;618882;no;no;renal insufficiency;HP:0000083; -; -; -; -;Supplemental Data (CLINICAL DATA ON INVESTIGATED PATIENTS);title, abstract, body (Background, Methods, Results, Discussion, Conclusions), supplementary materials;title, abstract, body (Background, Methods, Results, Discussion);no;could not find negative relation sentence, negative relation comes from Supplementary Material description of patient's kidneys, which does not describe an anomaly
PMID:24334290;PMC3914472;PCS;OMIM;"SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC"; -;GLRX5;hyperglycinemia ;616859;no;609588;increased serum lactate ;HP:0002151;lactate;not; -;The presence of elevated alanine or lactate can also be indicative, but is not required ;body (Discussion);title, abstract, body (Introduction);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 2, article is about one disease but describes phenotypes related to various genes, in this case the phenotype is not associated with GLRX5
PMID:24344637; -;PCS;OMIM;"LOEYS-DIETZ SYNDROME 2; LDS2; AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3; MARFAN SYNDROME, TYPE II, FORMERLY";LDS;TGFBR2; -;610168;no;no;ectopia lentis;HP:0001083;exact match;present exclusively; -;Finally, our study corroborated arterial tortuosity, aneurysms of non-aortic arterial vessels, PDA, bifid uvula, and increased craniofacial severity indices as exclusive features of LDS (12), whereas ectopia lentis (10, 12) and myopia >3 diopters were present exclusively in MFS;body (Discussion);title, abstract, body (Methods, Results, Discussion);title, abstract, body (Methods, Discussion);yes (disease_abbreviation);
PMID:24344637; -;PCS;OMIM;"LOEYS-DIETZ SYNDROME 2; LDS2; AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3; MARFAN SYNDROME, TYPE II, FORMERLY";LDS;TGFBR2; -;610168;no;no;myopia;HP:0000545;exact match;present exclusively; -;Finally, our study corroborated arterial tortuosity, aneurysms of non-aortic arterial vessels, PDA, bifid uvula, and increased craniofacial severity indices as exclusive features of LDS (12), whereas ectopia lentis (10, 12) and myopia >3 diopters were present exclusively in MFS;body (Discussion);title, abstract, body (Methods, Results, Discussion);title, abstract, body (Methods, Discussion);yes (disease_abbreviation);
PMID:24482476;PMC4157572;IEA;OMIM;"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62";HSP;ERLIN1;hereditary spastic paraplegia;615681;no;no;autism;HP:0000717;autism spectrum disorders;not; -;"In contrast, we did not find a similar association with sets for representative neurodevelopmental disorders such as autism spectrum disorders and epilepsy (P = 0.49 and P = 0.51, respectively; fig. S12), nor with nonneurological disorders represented by heart and pulmonary disorders ";body (Link Between HSP and Neurodegenerative Disease Genes);abstract, body (Abstract, Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, Functional Testing Candidates with Expression and Zebrafish, HSP-Related Proteins Interact Within a Network, Implicated Causal Genes Suggest Modules of HSP Pathology, Candidate HSP Genes Identified by Network Analysis, Link Between HSP and Neurodegenerative Disease Genes, Discussion), supplementary materials;body (Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, HSP-Related Proteins Interact Within a Network, Discussion), supplementary materials;no;
PMID:24482476;PMC4157572;IEA;OMIM;"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62";HSP;ERLIN1;hereditary spastic paraplegia;615681;no;no;EMG abnormality;HP:0003457;EMG; -;normal;EMG/NVC findings; Supplementary Material (Table S1);abstract, body (Abstract, Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, Functional Testing Candidates with Expression and Zebrafish, HSP-Related Proteins Interact Within a Network, Implicated Causal Genes Suggest Modules of HSP Pathology, Candidate HSP Genes Identified by Network Analysis, Link Between HSP and Neurodegenerative Disease Genes, Discussion), supplementary materials;body (Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, HSP-Related Proteins Interact Within a Network, Discussion), supplementary materials;no;relation table in supplementary materials
PMID:24482476;PMC4157572;IEA;OMIM;"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62";HSP;ERLIN1;hereditary spastic paraplegia;615681;no;no;epilepsy;HP:0001250;exact match;not; -;"In contrast, we did not find a similar association with sets for representative neurodevelopmental disorders such as autism spectrum disorders and epilepsy (P = 0.49 and P = 0.51, respectively; fig. S12), nor with nonneurological disorders represented by heart and pulmonary disorders ";body (Link Between HSP and Neurodegenerative Disease Genes);abstract, body (Abstract, Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, Functional Testing Candidates with Expression and Zebrafish, HSP-Related Proteins Interact Within a Network, Implicated Causal Genes Suggest Modules of HSP Pathology, Candidate HSP Genes Identified by Network Analysis, Link Between HSP and Neurodegenerative Disease Genes, Discussion), supplementary materials;body (Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, HSP-Related Proteins Interact Within a Network, Discussion), supplementary materials;no;
PMID:24482476;PMC4157572;IEA;OMIM;"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62";HSP;ERLIN1;hereditary spastic paraplegia;615681;no;no;fasciculations;HP:0002380;exact match; -; -; -;Supplementary Material (Table S1);abstract, body (Abstract, Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, Functional Testing Candidates with Expression and Zebrafish, HSP-Related Proteins Interact Within a Network, Implicated Causal Genes Suggest Modules of HSP Pathology, Candidate HSP Genes Identified by Network Analysis, Link Between HSP and Neurodegenerative Disease Genes, Discussion), supplementary materials;body (Multiple Genes Are Implicated in HSP, Extending Results to Larger HSP Cohort, HSP-Related Proteins Interact Within a Network, Discussion), supplementary materials;no;relation table in supplementary materials
PMID:24531968;PMC4480613;PCS;OMIM;"POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR"; -; -;familial life-long persistent fever;615752;no;no;motor delay;HP:0001270;motor disability; -;normal;Affected individuals suffered intellectual and language difficulty, as well as refractory seizures (onset 7 months to 10 years), but had no motor disability ;body;abstract, body, supplementary materials; -;no;
PMID:24736735;PMC4266745;PCS;OMIM;"PALLISTER-HALL SYNDROME; PHS";exact match (PHS);GLI3; -;146510;yes;no;preaxial polydactyly;HP:0100258;preaxial PD;no; -;No patient with preaxial PD was recorded;body (RESULTS);abstract, body (INTRODUCTION, RESULTS);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION, CONCLUSION);no;
PMID:24899048;PMC4189898;PCS;OMIM;"MACULAR DEGENERATION, EARLY-ONSET; EOMD";MD;FBN2;familial life-long persistent fever;616118;no;no;abnormal skeletal muscle morphology ; HP:0011805;muscle abnormalities;no; -;Affected members in the Fam-979 family did not report a history of skeletal, joint or muscle abnormalities, as identified in CCA, which is also associated with FBN2 mutations ;body (DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS);yes (gene);
PMID:24899048;PMC4189898;PCS;OMIM;"MACULAR DEGENERATION, EARLY-ONSET; EOMD";MD;FBN2;familial life-long persistent fever;616118;no;no;abnormality of skeletal morphology;HP:0011842;skeletal abnormalities;no; -;Affected members in the Fam-979 family did not report a history of skeletal, joint or muscle abnormalities, as identified in CCA, which is also associated with FBN2 mutations ;body (DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS);yes (gene);
PMID:24913602; - ;PCS;OMIM;"HENNEKAM LYMPHANGIECTASIA -LYMPHEDEMA SYNDROME 2; HKLLS2";HS;FAT4;Hennekam syndrome ;616006;no;no;abnormal trachea morphology;HP:0002778;tracheal anomalies ; -; -; -;body (Table 2);title, abstract, body (Introduction, Table 1, Table 2);title, abstract, body (Introduction, Results, Discussion, Methods);no;
PMID:25038750;PMC4129488;PCS;OMIM;"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1"; -;STAT3;autoimmune disease ;615952;no;no;high blood eosinophil count;HP:0001880;eosinophil count; -;normal;Normal eosinophil count ;Supplementary Material (Supplementary Table 4);title, abstract, body (Online Methods), supplementary materials;title, abstract, body (Online Methods), supplementary materials;no;
PMID:25124994; -;PCS;OMIM;"NOONAN SYNDROME 8; NS8";NS;RIT1; -;615355;no;609591;intellectual disability;HP:0001249;exact match;not; -;The majority of patients with a RIT1 mutation did not show apparent intellectual disability ;abstract;title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);yes (gene);
PMID:25307056;PMC4303590;PCS;OMIM;"IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION; IMD38"; -;ISG15 ;immunodeficiency ;616126;no;no;severe viral infection;HP:0031691;viral infection;lack of; -;The observed enhancement of cellular responses to IFN-α/β provides an explanation for the lack of overt viral infection phenotypes 5 in patients with ISG15 deficiency ;body;body;title, abstract, body (METHODS), supplementary materials;yes (gene);disease_name is not referred in the text, instead it came from associated_gene_or_locus (ISG15)
PMID:25331638; -;IEA;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99";"exact match (DFNB99); ARNSHL";TMEM132E;autosomal-recessive nonsyndromic hearing loss, hearing loss;618481;no;no;vestibular dysfunction;HP:0001751;exact match;not; -;Romberg and tandem gait testing did not reveal any symptoms of vestibular dysfunction in either patient ;body (Materials and Methods);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:25758993;PMC4795202;PCS;OMIM;"BRACHYDACTYLY, TYPE A1, C; BDA1D";BDA1;BMPR1B; -;616849;no;no;abnormal foot morphology;HP:0001760;foot anomalies;not; -;Both parents appeared normal and did not exhibit any hand or foot anomalies ;body (RESULTS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;could be an incorrect negative relation, since the sentence with the negation and phenotype refers to the parents and not the patient with BDA1
PMID:25876182; -;PCS;OMIM;"THROMBOCYTOPENIA 3; THC3"; -; -;thrombocytopenia;273900;no;no;abnormal megakaryocyte morphology;HP:0012143;size of megakaryocytes; - ;normal;"Bone -marrow aspirate from patient 4 was reviewed and compared with that from two unaffected controls (at least 30 megakaryocytes analyzed per sample); the patient’s aspirate showed normal cellularity, erythroid and myeloid differentiation, and numbers and size of megakaryocytes (data not shown); however, the percentage of mature multilobulated megakaryocytes (three or more nuclear lobules) was reduced as compared with controls (15% versus 68%)";body (Results and discussion);title, abstract, body (Introduction); -;no;
PMID:25938801;PMC4461456;PCS;OMIM;"MYOPATHY, SCAPULOHUMEROPERONEAL; SHPM"; -;ACTA1;scapuloperoneal myopathy, scapuloperoneal disorder ;616852;no;102610;nemaline rods;HP:0003798;exact match;without; -;The ACTA1-related scapuloperoneal myopathy without nemaline rods or actin accumulations reported in this family does not belong to any of the hitherto recognized clinicopathologic actinopathies and thus expands the phenotypic range of actinopathies;body;title, abstract, body (Discussion), supplementary materials;title, abstract, body (Methods, Results, Discussion), supplementary materials;yes (gene, disease_name);"negative relation can also be found in the sentence ""Muscle biopsy specimens demonstrated type I fiber atrophy and trabeculated fibers without nemaline rods"" (abstract)"
PMID:25954033;PMC4492397;PCS;OMIM;OROFACIAL CLEFT 15; -;DLX4;orofacial clefting ;616788;no;no;distichiasis ;HP:0009743;exact match;without; -;She had a high anterior hairline with sparse eyebrows, euryblepharon and lagophthalmos (Fig. 1) and mild ectropion of the lower eyelids without distichiasis ;body (Materials and Methods);title, body (Discussion);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26123727;PMC4616260;PCS;OMIM;"GALLOWAY -MOWAT SYNDROME 1; GAMOS1";GMS; -;Galloway-Mowat syndrome;251300;yes;no;abnormality of neuronal migration;HP:0002269;basal ganglia degeneration;excluded; -;While WDR45 (MIM #300526) mutations cause basal ganglia degeneration with brain iron accumulation in NBIA, such an accumulation was excluded in cranial MRI in patient 1 -II -1 with basal ganglia degeneration due to WDR73 mutations;body (DISCUSSION);abstract, body (INTRODUCTION); -;no;
PMID:26142438; -;TAS;OMIM;"KERATOSIS PILARIS ATROPHICANS; KPA";KPA;LRP1; -;604093;no;107770;abnormal growth;HP:0001507;growth; -;normal;The affected children are without other ectodermal symptoms or signs and they presented with normal psychomotor development, growth and vision;body (RESULTS);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;
PMID:26142438; -;TAS;OMIM;"KERATOSIS PILARIS ATROPHICANS; KPA";KPA;LRP1; -;604093;no;107770;abnormality of vision;HP:0000504;vision; -;normal;The affected children are without other ectodermal symptoms or signs and they presented with normal psychomotor development, growth and vision;body (RESULTS);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;
PMID:26142438; -;TAS;OMIM;"KERATOSIS PILARIS ATROPHICANS; KPA";KPA;LRP1; -;604093;no;107770;mental retardation;HP:0001249;cognitive functions; - ;normal;The four affected family members in our study present with normal cognitive functions, normal growth and stature without signs of any metabolic abnormality;body (DISCUSSION);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);no;
PMID:26188006;PMC4692992;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 5; ETM5";ET;TENM4;essential tremor;616736;no;610084;bradykinesia;HP:0002067;exact match; -; -; -;Supplementary Material (Supplementary Table S1);"title, abstract, body (Introduction; Results; Discussion; Subjetcs, Materials and Methods), supplementary materials";"title, abstract, body (Results; Discussion; Subjects, Materials and Methods), supplementary materials";no;
PMID:26196677;PMC4510057;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 70; DFNA70"; -;MCM2 ;dominant nonsyndromic deafness, nonsyndromic hearing loss;616968;no;no;vestibular dysfunction;HP:0001751;exact match;none; -;None of the affected individuals complained of any vestibular symptoms, and vestibular functional tests were therefore not performed ;body (Results);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:26197441;PMC4510537;IEA;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66";NSHI;CD164 ;nonsyndromic hearing impairment ;616969;no;603356;vestibular dysfunction;HP:0001751;vestibular complaints;not; -;Vestibular complaints were not reported subjectively ;body (Materials and Methods);title, abstract, body (Introduction, Results, Discussion, Materials and Methods);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26208961;PMC4553032;PCS;OMIM;"MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV"; -;SQSTM1;distal myopathy with rimmed vacuoles, distal myopathy, myopathy;617158;no;no;Babinski signs ;HP:0003487;exact match; -;normal;Reflexes were normal with negative Babinski signs ;body (Methods);title, abstract, body (Methods, Results, Discussion), supplementary materials;title, abstract, body (Methods, Results, Discussion), supplementary materials;no;
PMID:26238514; -;PCS;OMIM;"COFFIN -SIRIS SYNDROME 6; CSS6";ID;ARID2;intellectual disabilities ;617808;no;no;seizures;HP:0001250;exact match;none; -;Notably, none of the children have had seizures, and there are no major brain malformations ;body (Discussion);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;"negative relation can also be found in sentence ""Seizures were not observed"" (body (Results))"
PMID:26416264;PMC4741280;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57"; -;PDZD7 ;hearing loss ;618003;no;612971;visual impairment;HP:0000505;vision problems;not; -;It is interesting that this person segregates two mutations in two USH-related genes and yet at the age of 33 years old does not have any vision problems ;body (DISCUSSION);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;abnormality of iron homeostasis;HP:0011031;iron saturation; -;normal;"Iron studies revealed a slightly elevated serum iron (162 μg/dl; normal = 87– 150 ug/dl) and soluble transferrin receptor (1.8 ng/ml; normal = <1.5 ng/ml), normal transferrin (268 mg/dl; normal = 200–360 mg/dl) and normal iron saturation (42%; normal = 27–44%) ";body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;ataxia;HP:0001251;exact match;none; -;None of these three patients had any history or signs of developmental delay, deafness, ataxia, seizures or cardiac disease ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;cardiac anomalies;HP:0001627;cardiac disease;none; -;None of these three patients had any history or signs of developmental delay, deafness, ataxia, seizures or cardiac disease ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;deafness;HP:0000365;exact match;none; -;None of these three patients had any history or signs of developmental delay, deafness, ataxia, seizures or cardiac disease ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;intellectual disability;HP:0001249;developmental delay;none; -;None of these three patients had any history or signs of developmental delay, deafness, ataxia, seizures or cardiac disease ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;low platelet count;HP:0001873;platelets ; -;normal;"The white blood cells were normal in number (5000/μl; normal = 3700–10 500/μl) and differential composition, and the platelets were also normal in number (214 000/μl; normal = 150 000–400 000/μl) ";body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;low white blood cell count;HP:0001882;white blood cells; -;normal;"The white blood cells were normal in number (5000/μl; normal = 3700–10 500/μl) and differential composition, and the platelets were also normal in number (214 000/μl; normal = 150 000–400 000/μl) ";body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26494905;PMC4690490;PCS;OMIM;"RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM";RP;TRNT1;retinitis pigmentosa;616959;no;no;seizures;HP:0001250;exact match;none; -;None of these three patients had any history or signs of developmental delay, deafness, ataxia, seizures or cardiac disease ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:26561570;PMC4752660;PCS;OMIM;"MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14"; -;OPA1;mitochondrial encephalomyopathy, hypertrophic cardiomyopathy;616896;no;no;heart failure;HP:0001635;exact match;absence; -;The patient subsequently developed a progressive, non-obstructive, generalised hypertrophic cardiomyopathy, in the absence of overt heart failure ;body;title, abstract, body;title, abstract, body, supplementary materials;no;
PMID:26598328;PMC4657157;PCS;OMIM;"EVEN -PLUS SYNDROME; EVPLS"; -;HSPA9; -;616854;no;no;cataracts;HP:0000518;exact match;no; -;"At age 16 months, her developmental quotient was approximately 80; a cerebral MRI was normal, an abdominal ultrasound examination did not show abnormalities of kidneys or urinary tract, an ophthalmologic examination was normal (specifically, no cataracts were observed), and a CGH array study gave normal results ";body (Clinical Reports);title, abstract, body (Results, Discussion), supplementary materials;title, abstract, body (Results, Discussion, Methods), supplementary materials;no;negative relation can also be found in Table 1
PMID:26740388; -;PCS;OMIM;"MUENKE SYNDROME; MNKES"; -;FGFR3; -;602849;no;no;cloverleaf skull;HP:0002676;cloverleaf; -; -; -;body (TABLE II);title, abstract, body (INTRODUCTION, DISCUSSION);abstract, body (INTRODUCTION, METHODS, RESULTS, DISCUSSION);no;
PMID:26849169; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57"; -;PDZD7;autossomal nonsyndromic hearing loss, hearing loss;618003;no;612971;abnormal retinal morphology;HP:0000479;retinal layer structures;no; -;Retinal layer structures were regular and showed no loss of photoreceptors ;body (Results);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;no;"negative relation can also be found in sentence ""Funduscopy showed normal optic discs, maculae, and periph- ery with no bone-spicule-like pigmentation, retinal vascular attenuation, or chorioretinal atrophy"" (body ((Results))"
PMID:26867732; -;PCS;OMIM;"ADENOSINE DEAMINASE 2 DEFICIENCY; DADA2"; -;ADA2;ADA2 deficiency, adenosine deaminase-2 (ADA2) deficiency ;615688;no;no;lupus anticoagulant;HP:0025343;exact match;neg; -; -;Supplementary data (Supplementary Table S3);title, abstract, body (Introduction, Methods, Results, Discussion);title, abstract, body (Introduction, Methods, Results, Discussion), supplementary materials;no;
PMID:26981933;PMC4836293;PCS;OMIM;"IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13";CVID;IKZF1;common variable immunodeficiency;616873;no;no;recurrent fungal infections;HP:0002841;fungal infections;no; -;No patients showed evidence of increased susceptibility to viral or fungal infections ;body (DISCUSSION);body (Methods), supplementary materials;abstract, body (Methods, Results, Discussion), supplementary materials;no;"negative relation can also be found in sentence ""There was no evidence of increased susceptibility to viral or fungal infections in any of these patients"" (in body(Discussion)), and in supplementary materials"
PMID:26981933;PMC4836293;PCS;OMIM;"IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13";CVID;IKZF1;common variable immunodeficiency;616873;no;no;recurrent viral infections;HP:0004429;viral infections;no; -;No patients showed evidence of increased susceptibility to viral or fungal infections ;body (DISCUSSION);body (Methods), supplementary materials;abstract, body (Methods, Results, Discussion), supplementary materials;no;"negative relation can also be found in sentence ""There was no evidence of increased susceptibility to viral or fungal infections in any of these patients"" (in body(Discussion)), and in supplementary materials"
PMID:26996948;PMC4833197;PCS;OMIM;"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2"; -;PIGA;intellectual disability with seizures and hypotonia, MCAHS2;300868;yes;311770;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);title, abstract, body (Discussion, Table 1), supplementary materials;body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53"; -;PIGG;intellectual disability ;616917;no;no;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; GPIBD19";IGD;PIGQ;inherited GPI deficiency ;618548;no;605754;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; GPIBD19";IGD;PIGQ;inherited GPI deficiency ;618548;no;605754;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;facial dysmorpism;HP:0001999;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; GPIBD19";IGD;PIGQ;inherited GPI deficiency ;618548;no;605754;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;hypotonia;HP:0001252;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; GPIBD19";IGD;PIGQ;inherited GPI deficiency ;618548;no;605754;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;intellectual disability;HP:0001249;exact match;without; -;The first reported inherited GPI deficiency (IGD) was PIGM (MIM: 610273) deficiency in individuals suffering from portal thrombosis and seizures without intellectual disability;body (Introduction);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);yes (disease_abbreviation, gene, gene_id);the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1";IGD;PIGM;inherited GPI deficiency ;610293;no;610273;urinary tract anomalies;HP:0000079;anomalies in urinary tract; - ; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19; GPIBD19";IGD;PIGQ;inherited GPI deficiency ;618548;no;605754;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);abstract, body (Introduction, Subjects and Methods, Discussion);body (Introduction, Table 1);no;the article is not directly about IGD but talks about GPI defeciencies
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6"; -;PGIY;hyperphosphatasia ;616809;yes;610662;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);body (Introduction);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6"; -;PGIY;hyperphosphatasia ;616809;yes;610662;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);body (Introduction);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6"; -;PGIY;hyperphosphatasia ;616809;yes;610662;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);body (Introduction);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME"; -;PIGL;CHIME syndrome;280000;yes;605947;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4";exact match (HPMRS4);PGAP3 ; -;615716;yes;611801;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5";exact match (HPMRS5);PIGW; -;616025;yes;610275;anorectal anomalies;HP:0012732;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4";exact match (HPMRS4);PGAP3 ; -;615716;yes;611801;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5";exact match (HPMRS5);PIGW; -;616025;yes;610275;congenital heart defects;HP:0001627;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;facial dysmorpism;HP:0001999;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4";exact match (HPMRS4);PGAP3 ; -;615716;yes;611801;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1";exact match (MCAHS1);PIGN; -;614080;yes;606097;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5";exact match (HPMRS5);PIGW; -;616025;yes;610275;hearing impairment;HP:0000365;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1";exact match (MCAHS1);PIGN; -;614080;yes;606097;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3";exact match (MCAHS3);PIGT; -;615398;yes;610272;increased serum alkaline phosphatase;HP:0003155;exact match; -; -; -;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42";exact match (MRT42);PGAP1 ; -;615802;no;611655;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);body (Table 1);body (Introduction, Table 1), supplementary materials;no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3";exact match (HPMRS3);PGAP2 ; -;614207;yes;615187;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4";exact match (HPMRS4);PGAP3 ; -;615716;yes;611801;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2";exact match (HPMRS2);PIGO ; -;614749;yes;614730;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996948;PMC4833197;PCS;OMIM;"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5";exact match (HPMRS5);PIGW; -;616025;yes;610275;urinary tract anomalies;HP:0000079;anomalies in urinary tract; -; -;Vesicoureteral reflex or anomalies in urinary tract ;body (Table 1);body (Table 1);body (Introduction, Table 1);no;
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;trichothiodystrophy ;616943;no;189964;cataracts;HP:0000518;exact match;no; -; -;Supplemental Data (Figure S1);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;no;negative relation can also be found in supplementary materials
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;trichothiodystrophy ;616943;no;189964;numerous pigmented freckles;HP:0007587;increased freckle-like pigmentation;no; -; -;body (Table 1);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;no;gene name in Table 2, negative relations can also be found in supplementary materials
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;trichothiodystrophy ;616943;no;189964;osteosclerosis;HP:0011001;exact match;no; -;He had normal bone age and no evidence of osteosclerosis, osteopenia, or hip abnormality as seen in some individuals with TTD;body (Results);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;yes (disease_abbreviation);negative relation can also be found in supplementary materials
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;trichothiodystrophy ;616943;no;189964;recurrent infections;HP:0002719;exact match;no; -; -;body (Table 1);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;no;gene_name can be found in Table 1, negative relations can also be found in supplementary materials
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;trichothiodystrophy ;616943;no;189964;skin cancer;HP:0008069;exact match;no; -; -;body (Table 1);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;no;gene name in Table 1, negative relation can also be found in supplementary materials
PMID:26996949;PMC4833217;PCS;OMIM;"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6";TTD ;GTF2E2;familial life-long persistent fever;616943;no;189964;cutaneous photosensitivity;HP:0000992;acute burning on minimal sun exposure;no; -; -;body (Table 1);title, abstract, body (Introduction), supplementary materials;body (Introduction, Material and Methods, Results, Discussion), supplementary materials;no;gene name in Table 1, negative relation can also be found in supplementary materials
PMID:27040692;PMC4833196;PCS;OMIM;"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3"; -;TBCK ;severe infantile syndromic encephalopathy, infantile encephalopathy ;616900;no;no;microcephaly;HP:0000252;exact match;not; -;Despite the loss of brain volume, microcephaly was not observed ;body;title, abstract, body, supplementary materials;title, abstract, body, supplementary materials;no;disease_name is not referred in the text, instead it came from associated_gene_or_locus (TBCK)
PMID:27162350;PMC4889368;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108"; -;ROR1;autosomal recessive deafness , deafness;617654;no;602336;balance impairment;HP:0002172;impaired balance;not; -;Patients did not show signs of impaired balance and had normal neuromotor development except for speech and language delay ;body (Results);abstract, body (Results, Discussion), supplementary materials;title, abstract, body (Results, Discussion, Materials and Methods ), supplementary materials;no;
PMID:27162350;PMC4889368;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108"; -;ROR1;autosomal recessive deafness , deafness;617654;no;602336;motor delay;HP:0001270;neuromotor development;not ; -;Patients did not show signs of impaired balance and had normal neuromotor development except for speech and language delay ;body (Results);abstract, body (Results, Discussion), supplementary materials;title, abstract, body (Results, Discussion, Materials and Methods ), supplementary materials;no;negative relation sentence can also be found in supplementary materials (Table S1)
PMID:27274160;PMC4890067;PCS;OMIM;INCISORS, LOWER CENTRAL, ABSENCE OF; -; -;missing mandibular central incisors;147330;no;no;hypodontia;HP:0000668; exact match;no; -;Pedigree charting was then done on their family for three generations and there were no signs of hypodontia or any other anomalies or syndromes ;body (CASE REPORT);abstract, body (DISCUSSION); -;no;
PMID:27330106;PMC5035228;PCS;OMIM;"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2"; -;TRPV4;osteonecrosis of the femoral head ;617383;no;no;beaking of vertebral bodies;HP:0004568;beaking;absent; -;Characteristics of these skeletal dysplasias including short stature, platyspondyly, abnormal vertebral hooking or beaking or osteoarthropathy of the fingers and toes were absent ;body (RESULTS);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Methods, Results, Discussion), supplementary materials;no;
PMID:27330106;PMC5035228;PCS;OMIM;"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2"; -;TRPV4;osteonecrosis of the femoral head ;617383;no;no;platyspondyly;HP:0000926;exact match;absent; -;Characteristics of these skeletal dysplasias including short stature, platyspondyly, abnormal vertebral hooking or beaking or osteoarthropathy of the fingers and toes were absent ;body (RESULTS);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Methods, Results, Discussion), supplementary materials;no;negative relation sentence can also be found in supplementary materials
PMID:27330106;PMC5035228;PCS;OMIM;"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2"; -;TRPV4;osteonecrosis of the femoral head ;617383;no;no;short stature;HP:0004322;exact match;absent; -;Characteristics of these skeletal dysplasias including short stature, platyspondyly, abnormal vertebral hooking or beaking or osteoarthropathy of the fingers and toes were absent ;body (RESULTS);title, abstract, body (Introduction, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Methods, Results, Discussion), supplementary materials;no;negative relation sentence can also be found in supplementary materials
PMID:27657680; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71"; -;DMXL2;hearing loss ;617605;no;no;vestibular dysfunction;HP:0001751;exact match;no; -;The affected members reported no symptoms associated with vestibular dysfunction ;body (RESULTS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, DISCUSSION);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, DISCUSSION), supplementary materials;no;
PMID:27666369;PMC5065657;PCS;OMIM;"ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO"; -;TBCE;Encephalopathy with Distal Spinal Muscular Atrophy ;617207;no;604934;growth abnormality;HP:0001507;growth defect;not ; -;They did not exhibit dysmorphia or growth defects ;body;title, abstract, body (Figure 1), supplementary materials; supplementary materials;no;"a negative relation sentence can also be found in supplementary materials (""Similarly, extensive endocrinological investigation in subjects 2518864, 00997847 and 00997844 yielded normal results. Importantly, no feature compatible with a diagnosis of hypoparathyroidism was documented; similarly, growth was normal in all individuals."")"
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK7"; -; -;pseudohyperkalaemia;609153;no;no;abnormal circulating aldosterone;HP:0040085;aldosterone concentration; -;normal;Blood gases and urinary aldosterone concentrations were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK8"; -; -;pseudohyperkalaemia;609153;no;no;abnormal circulating aldosterone;HP:0040085;aldosterone concentration; -;normal;Plasma renin, aldosterone and creatinine concentrations were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK9"; -; -;pseudohyperkalaemia;609153;no;no;abnormal circulating creatinine level;HP:0012100;creatinine cocentration; -;normal;Plasma renin, aldosterone and creatinine concentrations were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK6"; -; -;pseudohyperkalaemia;609153;no;no;abnormal circulating renin;HP:0040084;renin concetration; -;normal;Plasma renin, aldosterone and creatinine concentrations were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK3"; -; -;pseudohyperkalaemia;609153;no;no;abnormal leukocyte count;HP:0011893;differential white cell count; -;normal;The blood film, reticulocyte count, differential white cell count and platelet count were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2"; -; -;pseudohyperkalaemia;609153;no;no;abnormal platelet count;HP:0011873;platelet count; -;normal;The blood film, reticulocyte count, differential white cell count and platelet count were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2"; -; -;pseudohyperkalaemia;609153;no; no;hemolytic anemia;HP:0001878;" haemolysis; abnormality of erythrocyte morphology";no; -;There was no significant haemolysis in vitro and no abnormality of erythrocyte morphology;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK5"; -; -;pseudohyperkalaemia;609153;no;no;hyperbilirubinemia;HP:0002904;bilirubin concentration; -;normal;Haemoglobin, bilirubin and haptoglobin concentrations as well as erythrocyte volume were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK4"; -; -;pseudohyperkalaemia;609153;no;no;reticulocytosis;HP:0001923;reticulocyte count; -;normal;The blood film, reticulocyte count, differential white cell count and platelet count were normal;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:2766660; -;PCS;OMIM;"PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK10"; -; -;familial life-long persistent fever;609153;no;no;abnormality of blood glucose concentration;HP:0011015;blood glucose;none; -;After an oral load there was a non -significant rise in blood glucose;body (METHODS);title, abstract, body (INTRODUCTION, DISCUSSION); -;no;
PMID:27694521; -;TAS;OMIM;"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62; MRT62";ID;PIGC;intellectual disability ;617816;no;no;increased serum alkaline phosphatase;HP:0003155;serum alkaline phosphatase; -;normal;Routine laboratory investigations including serum alkaline phosphatase were normal ;body (PATIENTS AND METHODS);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION);no;
PMID:2769722;PMC1015672;PCS;OMIM;AMAUROSIS CONGENITA, CONE -ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS; -; -;cone-rod type of congenital amaurosis;204110;no;no;mental retardation;HP:0001249;retardation; -;normal;Normal, case 1 is musically talented ;body (TABLE);abstract; -;no;
PMID:2769722;PMC1015672;PCS;OMIM;AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS; -; -;cone-rod type of congenital amaurosis;204110;no;no;night blindness;HP:0000662; exact match ;absence; -;Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness;abstract;abstract; - ;no;
PMID:27839872;PMC5142107;IEA;OMIM;"ANTERIOR SEGMENT DYSGENESIS 8; ASGD8";ASD;CPAMD8; -;617319;no;no;corneal opacity;HP:0007957;exact match;absent; -;Corneal opacity was absent and the fovea was not affected, distinguishing the condition of these four individuals from PAX6-associated disorders, which are characterized by reduced vision from foveal hypoplasia and corneal epithelial stem cell failure;body;title, abstract, body, supplementary materials;title, abstract, body, supplementary materials;no;negative relation can also be found in Table 1
PMID:27843125;PMC5097978;PCS;OMIM;AMELOGENESIS IMPERFECTA, TYPE IJ; -; -; -;617297;no;no;abnormality of dentin;HP:0010299;dentin defects;not; -;However, we could not identify any dentin defects in the affected individuals clinically and/or radiographically ;body;title, abstract, body, supplementary materials; -;no;negative relation can also be found in supplementary materials
PMID:28180185;PMC5289017;PCS;OMIM;"HYPEREKPLEXIA 4; HKPX4"; -;ATAD1;extreme hypertonia, encephalopathy, and seizures ;618011;no;no;infantile spasms;HP:0012469;exact match; -; -;He did not demonstrate infantile spasms as his extreme hypertonia precluded almost all movement;body (RESULTS);body;title, abstract, body (METHODS, RESULTS, DISCUSSION);no;
PMID:28600438;PMC5502421;PCS;OMIM;"MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU"; -;RELA;chronic mucocutaneous ulceration ;618287;no;no;recurrent infections;HP:0002719;exact match;no; -;She had no history of recurrent infections and had a normal immunologic evaluation ;body (RESULTS AND DISCUSSION);title, abstract, body (INTRODUCTION);title, abstract, body (INTRODUCTION, RESULTS AND DISCUSSION, MATERIALS AND METHODS), supplementary materials;no;
PMID:28972538;PMC5663364;PCS;OMIM;"NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8"; -;SRP54 ;neutropenia;618752;no;no;abnormal immunoglobulin level;HP:0010701; serum Ig levels; -;normal;The patient’s lymphocyte immunophenotype results and serum Ig levels were normal ;body (Results);title, abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;title, abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;no;negative relation can also be found in supplementary materials (Table 1)
PMID:29048736;PMC5765442;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57";ARNSHL ;PDZD7 ;autosomal recessive non-syndromic hearing loss, non-syndromic hearing loss;618003;no;no;vestibular dysfunction;HP:0001751;vestibular disorder;no; -;At present, they describe no signs of visual or vestibular disorder and no progression in hearing loss from 2005 to now ;body (DISCUSSION);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplemental materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:29253101;PMC5837393;PCS;OMIM;"MARSILI SYNDROME; MARSIS;; INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT"; -;ZFHX2;familial life-long persistent fever;147430;no;no;abnormality of tear production;HP:0000632;tear production; -;normal;All individuals have severe corneal hyporeflexia but without corneal scarring and with normal tear production;body (Results);body (RESULTS, DISCUSSION);title, abstract, body (Introduction, Material and methods, Results, Discussion), supplementary materials;no;
PMID:29253101;PMC5837393;PCS;OMIM;"MARSILI SYNDROME; MARSIS;; INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT"; -;ZFHX2;familial life-long persistent fever;147430;no;no;corneal scarring;HP:0000559; exact match;without; -;All individuals have severe corneal hyporeflexia but without corneal scarring and with normal tear production;body (RESULTS);body (RESULTS, DISCUSSION);title, abstract, body (Introduction, Material and methods, Results, Discussion), supplementary materials;no;
PMID:29330545;PMC5839055;PCS;OMIM;"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16"; -;KCNMA1;epilepsy;618596;no;no;paroxysmal dyskinesia;HP:0007166;exact match;no; -;We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))—encoding the BK channel—that causes epilepsy, but not paroxysmal dyskinesia, in two independent families ;abstract;title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplemental materials;abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;yes (disease_synonym);"negative relation can also be found in sentence ""Neurological examinations revealed no paroxysmal dyskinesia or other obvious movement disorders."" (body (Results)) and ""These data suggest that the calcium-activation pathway of the BK channel may be associated with paroxysmal dyskinesia, but not with epilepsy"" (body (Discussion))"
PMID:29392890;PMC5947146;PCS;OMIM;"LOEYS -DIETZ SYNDROME 3; LDS3";LDS;SMAD3; -;613795;yes;no;ectopia lentis;HP:0001083;exact match;without; -;"Although no formal diagnostic criteria have been developed, genetic testing of the LDS genes should be considered in the following scenarios: (1) patients with the typical clinical trial of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm; (2) early onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, craniosynostosis (all types), blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septum defects; (3) sporadic young probands with aortic root dilatation/dissection; (4) families with autosomal dom- inant thoracic aortic aneurysms, especially those families with early onset aortic/arterial dissection, aortic disease beyond the aortic root (including cerebral arteries); (5) patients with a MS-like phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling the MS diagnostic criteria; (6) patients with clinical features reminiscent of vascular Ehlers–Danlos syndrome (thin skin with atrophic scars, easy bruising, joint hypermobility) and normal type III collagen biochemistry and/or normal COL3A1 genetic testing";body (CLINICAL AND DIAGNOSTIC RELEVANCE);title, abstract, body (BACKGROUND, BIOLOGICAL RELEVANCE, CLINICAL AND DIAGNOSTIC RELEVANCE, FUTURE PROSPECTS);abstract, body (VARIANTS, BIOLOGICAL RELEVANCE, CLINICAL RELEVANCE), supplementary materials;yes (disease_abbreviation);
PMID:29573052;PMC6001798;TAS;OMIM;"GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17"; -;PIGH;defective glycosylphosphatidylinositol (GPI)-anchor biogenesis ;618010;no;600154;abnormality of alkaline phosphatase level ;HP:0004379;alkaline phosphatase ; -;normal;"However, in this case, alkaline phosphatase was within the normal range for both siblings; most recent measurements were 107 IU/L (normal range 40–240) for IV-1 and 228 IU/L (84–307) for IV-2";body;abstract, body;title, abstract, body;no;
PMID:29590114;PMC5891075;TAS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100";exact match (DFNB100);PPIP5K2;autosomal recessive nonsyndromic hearing loss, hearing loss;618422;no;no;vestibular dysfunction;HP:0001751;exact match;not; -;Romberg and tandem gait tests did not reveal any overt vestibular dysfunction in affected individuals of both families;body (Results);title, abstract, body (Introduction, Results, Discussion);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:29703829;PMC6060001;IEA;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113"; -;CEACAM16;recessive non-syndromic hearing impairment, hearing loss;618410;no;no;vestibular dysfunction;HP:0001751;vestibular reflexes; -;normal;An in-depth clinical evaluation revealed affected individuals have normal vestibular reflexes, vision, skin, cognitive function and developed normal speech ;body (Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:29726066;PMC6032947;PCS;OMIM;"MYOCLONUS, FAMILIAL, 2; MYOCL2"; -;SCN8A;familial isolated myoclonus, isolated myoclonus, myoclonus;618364;no;600702;cognitive impairment;HP:0100543;exact match;without; -;We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment ;abstract;title, abstract, body;title, abstract, body, supplementary materials;yes (gene);
PMID:29726066;PMC6032947;PCS;OMIM;"MYOCLONUS, FAMILIAL, 2; MYOCL2"; -;SCN8A;familial isolated myoclonus, isolated myoclonus, myoclonus;618364;no;600702;dystonia;HP:0001332;exact match;not; -;His motor milestones were delayed, for example, independent walking at age three, but he does not have intellectual disability and does not exhibit dystonia or other neurological abnormalities ;body;title, abstract, body;title, abstract, body, supplementary materials;no;
PMID:29726066;PMC6032947;IEA;OMIM;"MYOCLONUS, FAMILIAL, 2; MYOCL2"; -;SCN8A;familial isolated myoclonus, isolated myoclonus, myoclonus;618364;no;600702;seizures;HP:0001250;exact match;without; -;We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment ;abstract;title, abstract, body;title, abstract, body, supplementary materials;yes (gene);"negative relation can also be found in sentence ""The data presented here demonstrate that heterozygosity for partial loss-of- function of SCN8A can be associated with movement disorders without seizures"" (body) and in supplementary materials Table S1"
PMID:30403323; -;PCS;OMIM;"MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF"; -;MYOD1;myopathy;618975;no;no;pulmonary hypoplasia;HP:0002089;exact match;without; -;Pulmonary imaging showed bilateral high diaphragmatic domes without pulmonary hypoplasia (Appendix S1) and diaphragmatic hypomobility on fluoroscopy;body (Case report);title, body (Introduction, Discussion), supplementary materials;title, body (Introduction, Discussion), supplementary materials;no;negative relation can also be found in supplementary materials
PMID:30451973; -;PCS;OMIM;"GALACTOSEMIA IV; GALAC4"; -;GALM;galactosemia ;618881;no;137030;global developmental delay ;HP:0001263;growth and development; -;normal;He showed normal growth and development at the most recent follow-up visit ;Supplementary Data (Supplemental note: Case Reports);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplemental materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;"negative relation can also be found in: ""She displayed normal growth and development without sequelae and complications at the most recent follow-up visit"", ""He showed normal growth and development without sequelae and complications at the most recent follow-up visit"", ""She showed normal growth and development without sequelae and complications at the most recent follow-up visit"", ""He showed normal growth and development without sequelae and complications at the most recent follow-up visit"", ""He showed normal growth and development without sequelae and complications at the most recent follow-up visit"" and ""He showed normal growth and development at the most recent follow-up visit"""
PMID:30451973; -;PCS;OMIM;"GALACTOSEMIA IV; GALAC4"; -;GALM;galactosemia ;618881;no;137030;hepatomegaly;HP:0002240;exact match; -; -; -;body (Table 1);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:30451973; -;PCS;OMIM;"GALACTOSEMIA IV; GALAC4"; -;GALM;galactosemia ;618881;no;137030;neurological abnormality;HP:0000707;neurological symptoms; -; -; -;body (Table 1);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:30451973; -;PCS;OMIM;"GALACTOSEMIA IV; GALAC4"; -;GALM;galactosemia ;618881;no;137030;short stature;HP:0004322;exact match; -; -; -;body (Table 1);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:30528822; -;PCS;OMIM;"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6";PSEK;TRPM4 ;familial life-long persistent fever;618531;no;no;abnormality of the teeth;HP:0000164;teeth; -;normal;Affected individuals had normal teeth and hair, and the skin lesions were stationary during seasonal or temperature changes, in contrast to erythrokeratodermia variabilis ;body (RESULTS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;yes (disease_synonym);
PMID:30528822; -;PCS;OMIM;"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6";PSEK;TRPM4 ;familial life-long persistent fever;618531;no;no;cardiac arrhythmias;HP:0011675;exact match;denied; -;All affected individuals denied any cardiac disorders or symptoms reminiscent of cardiac arrhythmias ;body (RESULTS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;no;
PMID:30528822; -;PCS;OMIM;"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6";PSEK;TRPM4 ;familial life-long persistent fever;618531;no;no;hair abnormality;HP:0001595;hair; -;normal;Affected individuals had normal teeth and hair, and the skin lesions were stationary during seasonal or temperature changes, in contrast to erythrokeratodermia variabilis ;body (RESULTS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION, MATERIALS AND METHODS);title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;yes (disease_synonym);
PMID:30804514;PMC6622181;IEA;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;spondyloepiphyseal dysplasia (SED) MIR140 type Nishimura ;618618;no;no;abnormality of bone mineral density;HP:0004348;bone density; -;normal;She had normal bone density for the age, which suggests that the heterozygous MIR140 mutation in humans does not lead to bone mass abnormalities ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;yes (gene);
PMID:30804514;PMC6622181;IEA;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;familial life-long persistent fever;618618;no;no;abnormality of the dentition;HP:0000164;dentition; -;normal;All three affected individuals had normal intelligence, dentition, hearing, visual acuity, and basic blood tests ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;no;
PMID:30804514;PMC6622181;IEA;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;familial life-long persistent fever;618618;no;no;hearing abnormality;HP:0000364;hearing; -;normal;All three affected individuals had normal intelligence, dentition, hearing, visual acuity, and basic blood tests ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;no;
PMID:30804514;PMC6622181;IEA;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;familial life-long persistent fever;618618;no;no;low intelligence;HP:0001249;intelligence; -;normal;All three affected individuals had normal intelligence, dentition, hearing, visual acuity, and basic blood tests ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;no;
PMID:30804514;PMC6622181;IEA;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;familial life-long persistent fever;618618;no;no;reduced visual acuity ;HP:0007663;visual; -;normal;All three affected individuals had normal intelligence, dentition, hearing, visual acuity, and basic blood tests ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;no;
PMID:30804514;PMC6622181;PCS;OMIM;"SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN"; -;MIR140;familial life-long persistent fever;618618;no;no;visual impairment;HP:0000505;visual acuity; -;normal;All three affected individuals had normal intelligence, dentition, hearing, visual acuity, and basic blood tests ;body;body (Results), supplementary materials;abstract, body (Methods), supplementary materials;no;
PMID:31175426;PMC6745279;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116"; -;CLDN9;autosomal recessive nonsyndromic hearing loss, hearing loss;619093;no;615799;nystagmus;HP:0000639;exact match;no; -;Gross motor development was normal with no history of balance problems, vertigo, dizziness, or nystagmus ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31175426;PMC6745279;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116"; -;CLDN9;autosomal recessive nonsyndromic hearing loss, hearing loss;619093;no;615799;psychomotor developmental delay;HP:0001263;gross motor development; -;normal;Gross motor development was normal with no history of balance problems, vertigo, dizziness, or nystagmus ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;good example of how heterogenous phenotypes names can be (in article phenotype=gross motor development, in HPO synonyms are: Mental and motor retardation, Psychomotor developmental delay, Developmental retardation, Developmental delay, Delayed cognitive development, Retarded psychomotor development, Retarded mental development, Delayed developmental milestones, Retarded development, Psychomotor development failure, Delayed psychomotor development, Delayed intellectual development, Delayed development, Developmental delay in early childhood, Developmental delay, global, Lack of psychomotor development, Cognitive delay, Psychomotor delay, Delayed milestones, Psychomotor development deficiency, Motor and developmental delay
PMID:31175426;PMC6745279;PCS;OMIM;"DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116"; -;CLDN9;autosomal recessive nonsyndromic hearing loss, hearing loss;619093;no;615799;vertigo;HP:0002321;exact match;no; -;Gross motor development was normal with no history of balance problems, vertigo, dizziness, or nystagmus ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31231791; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75";ADNSHL ;TRRAP;familial life-long persistent fever;618778;no;no;abnormal cochlea morphology;HP:0000375;cochlea; -; -;According to the computed tomography scan and magnetic resonance imaging data, the mastoid process, cochlea, internal auditory meatus, and membranous labyrinth were well developed, as was the ossicular chain ;body (RESULTS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31273342; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77";NSHL ;ABCC1 ; nonsyndromic hearing loss, hearing loss;618915;no;no;morphological abnormality of the inner ear;HP:0011390;inner ear malformations;negative; -;Clinical examinations including otoscopy, ABR, ASSR, DPOAE, and temporal bone HRCT for the proband were negative, excluding auditory neuropathy spectrum disorders and inner ear malformations;body (RESULTS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31314961; -;PCS;OMIM;"SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP;; SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE"; -;SOD1;axial hypotonia;618598;no;no;atrophy/Degeneration affecting the central nervous system ;HP:0007367;atrophy;not; -;Atrophy, fasciculations, and other signs of lower motor neuron involvement were not noted ;body;body;title, body, supplementary materials;no;
PMID:31314961; -;PCS;OMIM;"SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP;; SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE"; -;SOD1;axial hypotonia;618598;no;no;fasciculations;HP:0002380;exact match;not; -;Atrophy, fasciculations, and other signs of lower motor neuron involvement were not noted ;body;body;title, body, supplementary materials;no;
PMID:31353022;PMC6698879;PCS;OMIM;"NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS"; -;PIGU;familial life-long persistent fever;618590;no;no;elevated alkaline phosphatase ;HP:0003155;alkaline phosphatase ; -;normal; -;body (Table 1);title;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;could not find a 'good' synonym in article, link to disease made by gene
PMID:31374204;PMC6698936;TAS;OMIM;"TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7";TTD ;TARS;trichothiodystrophy ;618546;no;187790;sun sensitivity;HP:0000992;sun-sensitive skin;no; -;There were no signs of sun-sensitive skin, but ichthyosis and follicular keratosis were reported ;body;abstract, body;title, abstract, body, supplementary materials;no;
PMID:31397523; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76";NSHL ;PLS1;autosomal dominant nonsyndromic hearing loss, nonsyndromic hearing loss;618787;no;602734;vestibular dysfunction;HP:0001751;exact match;negative; -;Clinical examination and clinical history were negative for the presence of vestibular dysfunction as well as for any kind of syndromic hearing loss ;body (MATERIAL AND METHODS);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31570889;PMC6858542;PCS;OMIM;"ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB"; -; RHOA;neuroectodermal syndrome ;618727;no;no;intellectual disability;HP:0001249; intellectual deficiency;no; -;Despite this striking brain phenotype, no intellectual deficiency or neurological impairment was noted in any affected individual ;body;title, abstract, body, supplementary materials;title, abstract, body (Online Methods), supplementary materials;no;negative relation can also be found in supplementary materials
PMID:31613795;PMC6934218;PCS;OMIM;"PROTEINURIA, CHRONIC BENIGN; PROCHOB"; -;CUBN;chronic proteinuria, proteinuria;618884;no;no;renal insufficiency;HP:0000083;renal function ; -;normal;However, renal function was normal in all cases ;abstract;title, abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;title, abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;spondyloepimetaphyseal dysplasia ;618728;no;113703;cone rod dystrophy;HP:0000548;cone-rod distrophy; -; -; -;body (Table 1);body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;spondyloepimetaphyseal dysplasia ;618728;no;113703;deafness;HP:0000365;exact match; -; -; -;body (Table 1);body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;spondyloepimetaphyseal dysplasia ;618728;no;113703;myopia;HP:0000545;exact match; -; -; -;body (Table 1);body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;spondyloepimetaphyseal dysplasia ;618728;no;113703;short phalanges;HP:0009803;exact match; -; -; -;body (Table 1);body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;familial life-long persistent fever;618728;no;113703;anemia;HP:0001903;exact match;not; -;Affected individuals do not show any other symptoms such as anemia, bone marrow failure, or cranio-facial abnormalities, as can be observed in other ribosomopathies such as DBA, Shwach-man-Diamond syndrome (SDS [MIM: 617941]) and cartilage hair hypoplasia (CHH-AD [MIM: 250250–607095]);body (Table 1);body (Table 1), supplementary materials;title, abstract, body, supplementary materials;no;negative relation can also be found in Table 1
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;familial life-long persistent fever;618728;no;113703;bone marrow failure;HP:0005528;exact match;not; -;Affected individuals do not show any other symptoms such as anemia, bone marrow failure, or cranio-facial abnormalities, as can be observed in other ribosomopathies such as DBA, Shwach-man-Diamond syndrome (SDS [MIM: 617941]) and cartilage hair hypoplasia (CHH-AD [MIM: 250250–607095]);body;body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31630789;PMC6849359;PCS;OMIM;"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST";SEMD;RPL13;familial life-long persistent fever;618728;no;113703;facial abnormality;HP:0000271;exact match;not; -;Affected individuals do not show any other symptoms such as anemia, bone marrow failure, or cranio-facial abnormalities, as can be observed in other ribosomopathies such as DBA, Shwach-man-Diamond syndrome (SDS [MIM: 617941]) and cartilage hair hypoplasia (CHH-AD [MIM: 250250–607095]);body;body, supplementary materials;title, abstract, body, supplementary materials;no;
PMID:31649276;PMC7056642;PCS;OMIM;"TREACHER COLLINS SYNDROME 4; TCS4";TCS;POLR1B; -;618939;no;no;abnormality of limbs;HP:0040064;anomaly of the limbs;N; -; -;body (Table 1);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31649276;PMC7056642;PCS;OMIM;"TREACHER COLLINS SYNDROME 4; TCS4";TCS;POLR1B; -;618939;no;no;intellectual disability;HP:0001249;exact match;N; -; -;body (Table 1);title, abstract, body (INTRODUCTION, MATERIALS AND METHODS, RESULTS, DISCUSSION);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:31654588; -;PCS;OMIM;"SPERMATOGENIC FAILURE 44; SPGF45"; -;CEP112;acephalic spermatozoa phenotype ;619044;no;no;abnormal serum testosterone level ;HP:0030087;testosterone; -; -; -;Supporting Information (Supplementary Table 1);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;no;
PMID:31654588; -;PCS;OMIM;"SPERMATOGENIC FAILURE 44; SPGF44"; -;CEP112;acephalic spermatozoa phenotype ;619044;no;no;decreased testicular size;HP:0008734; development of external genitalia and bilateral testicular; -;normal;Both of them had normal development of external genitalia and bilateral testicular ;body (MATERIAL AND METHODS);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;no;
PMID:31777803;PMC6857991;PCS;OMIM;"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1";FCAS;NLRP3;familial life-long persistent fever;120100;no;no;hearing loss;HP:0000365; exact match;no; -; There was no report of neither abdominal or thoracic manifestations nor hearing loss or other neurological involvement;body (RESULTS);abstract, body (Table 1);title, abstract, body (INTRODUCTION, PATIENTS AND METHODS, RESULTS, DISCUSSION), supplementary materials;no;
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;ataxia;HP:0001251;exact match;without; -;However, these patients presented with simple kinetic and/or postural tremor, without cognitive impairment, autonomic dysfunction, cerebellar ataxia, hypermyotonia, pyramidal signs, paroxysmal loss of consciousness, during our follow-up ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;cerebellar atrophy;HP:0001272;exact match;no; -;No severe brain leukodystrophy and cerebellar atro- phy were found in the MRI examination of any probands ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;cognitive impairment ;HP:0100543;exact match; -; -;However, these patients presented with simple kinetic and/or postural tremor, without cognitive impairment, autonomic dysfunction, cerebellar ataxia, hypermyotonia, pyramidal signs, paroxysmal loss of consciousness, during our follow-up ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;fequent urination;HP:0100515;exact match; -; -; -;body (Table 4);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;leukodystrophy;HP:0002415;exact match;no; -;No severe brain leukodystrophy and cerebellar atrophy were found in the MRI examination of any probands ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;loss of consciousness;HP:0007185;exact match;no; -;However, these patients presented with simple kinetic and/or postural tremor, without cognitive impairment, autonomic dysfunction, cerebellar ataxia, hypermyotonia, pyramidal signs, paroxysmal loss of consciousness, during our follow-up ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;peripheral neuropathy;HP:0009830;exact match;no; -;Brain MRI and EMG examination also revealed no severe brain leukodystrophy, cerebellar atrophy or peripheral neuropathy for the probands with repeat expansions;body (Discussion);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31819945; -;PCS;OMIM;"TREMOR, HEREDITARY ESSENTIAL, 6; ETM6";ET;NOTCH2NLC;essential tremor ;618866;no;no;pyramidal signs;HP:0007256;exact match;no; -;However, these patients presented with simple kinetic and/or postural tremor, without cognitive impairment, autonomic dysfunction, cerebellar ataxia, hypermyotonia, pyramidal signs, paroxysmal loss of consciousness, during our follow-up ;body (Results);title, abstract, body (Introduction, Materials and methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Results, Discussion), supplementary materials;no;negative relation can also be found in Table 4
PMID:31972369; -;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79";NSHL ;SCD5;autosomal dominant nonsyndromic deafness, non-syndromic hearing loss, hearing loss, hearing impairment;619086;no;608370;vestibular dysfunction;HP:0001751;vestibular symptoms;none; -;None of the individuals who had hearing loss complained of any vestibular symptoms ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);no;
PMID:31996837;PMC7545464;PCS;OMIM;"CILIARY DYSKINESIA, PRIMARY, 44; CILD44";PCD;NEK10;primary ciliary dyskinesia;618781;no;no;heterotaxy;HP:0030853;exact match;without; -;Chest imaging demonstrated extensive pan-lobar bronchiectasis without heterotaxy, and nasal biopsies revealed normal ciliary radial ultrastructure;body;title, abstract, body;title, abstract, body;no;
PMID:32041641;PMC7011274;PCS;OMIM;"ARBOLEDA-THAM SYNDROME; ARTHS"; -;KAT6A;autosomal dominant mental retardation ;616268;yes;601408;webbed neck;HP:0000465;exact match; - ; -; -;body (Table 1);body (Background);title, abstract, body (Background, Results, Discussion, Conclusions, Materials and methods);no;
PMID:32163377;PMC7260033;PCS;OMIM;"IMMUNODEFICIENCY 69; IMD69;; IMMUNODEFICIENCY 69, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE";MSMD;IFNG;mycobacterial disease ;618963;no;no;hemophagocytosis;HP:0012156;exact match;no; -;Hemophagocytic lymphohistiocytosis (HLH) was suspected, but no evidence of hemophagocytosis was found in the bone marrow ;body (Results);title, abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;abstract, body (Introduction, Results, Discussion, Methods), supplementary materials;no;
PMID:32220290;PMC7118585;PCS;OMIM;"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS"; -;PIGK;neurodevelopmental syndrome with hypotonia ;618879;no;605087;elevated alkaline phosphatase;HP:0003155;elevated serum alkaline phosphatase ;not; -;Elevated serum alkaline phosphatase (ALP), a feature found in half of other known IGDs, was not seen in individuals with PIGK variants, similarly to what was seen in individuals with variants in PIGS and GPAA1 ;body (Discussion);title, supplementary materials;title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;yes (gene);
PMID:32294086;PMC7159186;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78"; -;SLC12A2 ;hereditary hearing loss;619081;no;no;epilepsy;HP:0001250;exact match;not; -;Visual inspection of the entire body, palpation of the head and neck, interview of affected individuals or their parents did not detect additional symptoms of multiple organs, global developmental delay, macrocephaly and epilepsy, or schizophrenia, all of which have been reported to be associated with SLC12A2 variants ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;yes (gene);
PMID:32294086;PMC7159186;IEA;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78"; -;SLC12A2 ;hereditary hearing loss;619081;no;no;gobal developmental delay;HP:0001263;exact match;not; -;Visual inspection of the entire body, palpation of the head and neck, interview of affected individuals or their parents did not detect additional symptoms of multiple organs, global developmental delay, macrocephaly and epilepsy, or schizophrenia, all of which have been reported to be associated with SLC12A2 variants ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;yes (gene);
PMID:32294086;PMC7159186;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78"; -;SLC12A2 ;hereditary hearing loss;619081;no;no;macrocephaly ;HP:0000256;exact match;not; -;Visual inspection of the entire body, palpation of the head and neck, interview of affected individuals or their parents did not detect additional symptoms of multiple organs, global developmental delay, macrocephaly and epilepsy, or schizophrenia, all of which have been reported to be associated with SLC12A2 variants ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods), supplementary materials;yes (gene);
PMID:32294086;PMC7159186;PCS;OMIM;"DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78"; -;SLC12A2 ;hereditary hearing loss;619081;no;no;schizophrenia;HP:0100753;exact match;not; -;Visual inspection of the entire body, palpation of the head and neck, interview of affected individuals or their parents did not detect additional symptoms of multiple organs, global developmental delay, macrocephaly and epilepsy, or schizophrenia, all of which have been reported to be associated with SLC12A2 variants ;body (Results);title, abstract;title, abstract, body (Introduction, Results, Discussion, Materials and Methods);yes (gene);
PMID:32473092;PMC7332649;PCS;OMIM;"OOCYTE MATURATION DEFECT 9; OOMD9"; -;TRIP13;familial life-long persistent fever;619011;no;604507;abnormality of the menstrual cycle ;HP:0000140;menstrual cycles; -;normal;All five affected individuals had been diagnosed with primary infertility of unknown cause for several years despite their having had normal menstrual cycles ;body (Results);title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;title, abstract, body (Introduction, Subjects and Methods, Results, Discussion), supplementary materials;no;
PMID:32502391;PMC7332666;PCS;OMIM;"OOCYTE MATURATION DEFECT 8; OOMD8";ZCF;BTG4;zygotic cleavage failure ;619009;no;605673;abnormal circulating estrogen level;HP:0025132;sex hormone levels; -;normal;These affected individuals had normal menstrual cycles and sex hormone levels ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:32502391;PMC7332666;PCS;OMIM;"OOCYTE MATURATION DEFECT 8; OOMD8";ZCF;BTG4;zygotic cleavage failure ;619009;no;605673;abnormality of the menstrual cycle;HP:0000140;menstrual cycles; -;normal;These affected individuals had normal menstrual cycles and sex hormone levels ;body (Results);title, abstract, body (Introduction, Materials and Methods, Results, Discussion);title, abstract, body (Introduction, Materials and Methods, Results, Discussion), supplementary materials;no;
PMID:3372762; -;IEA;OMIM;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; -; -;epidermolysis bullosa;131900;no;no;abnormally shaped teeth;HP:0006482;teeth; -;normal;"Blistersin oral mucous membranes were noted and found in summer and in periods of fever; hair, teeth, and nails were normal";body (CASE REPORT);title, abstract, body; -;no;
PMID:3372762; -;IEA;OMIM;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; -; -;epidermolysis bullosa;131900;no;no;abnormally shaped teeth;HP:0006482;teeth; -;normal;Hair, teeth, and nails were normal;body (CASE REPORT);title, abstract, body; -;no;
PMID:3372762; -;IEA;OMIM;EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; -; -;epidermolysis bullosa;131900;no;no;Nikolsky's sign;HP:0100792; exact match;negative; -;Nikolski's sign was negative;body (CASE REPORT);title, abstract, body; -;no;
PMID:33772159; -;PCS;OMIM;"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND";exact match (NEDHND);SPTBN4; -;617519;yes;no;demyelinating peripheral neuropathy ;HP:0007108;exact match;N; -; -;body (Table 1);abstract, body (Introduction);title, abstract, body (Introduction, Results, Discussion);no;"article associates phenotype 'Demyelinating peripheral neuropathy' to the id HP:0003448(==Decreased sensory nerve conduction velocity) -> exemplo de falta de coerencia(?); Some negative relations can oftentime be found in the Clinical Reports section, but only in regard to one patient, i.e. we have to be careful in order to only consider negative relations that refer to all patients of the study (example: pmid:33772159, the negative relation can be found sumarized in table 1, were we can see that all patients don't have demyelinating peripheral neuropathy, but on the other hande there are 3 negation sentences in the article: ""Nerve conduction studies and EMG were entirely normal"", ""She had horizontal nystagmus. EEG or BERA were not recorded. Sensory-nerve action potentials and motor action potentials were normal"", ""Nerve conduction studies showed normal sensory and motor conduction velocities, with low- amplitude motor responses"" - maybe if we have more than one negation sentence for the same phenotype this can make it a good candidate for a negative relation)"
PMID:4951423; -;PCS;OMIM;FEVER, FAMILIAL LIFELONG PERSISTENT; -; -;familial life-long persistent fever;228400;no;no;abnormalities of sweating;HP:0000971;sweat function; -;normal;Sweat function also was normal;abstract;title; - ;no;
PMID:4951423; -;PCS;OMIM;FEVER, FAMILIAL LIFELONG PERSISTENT; -; -;familial life-long persistent fever;228400;no;no;abnormality of circulating hormone level;HP:0003117;thyroid and adrenal function; - ;normal;Thyroid and adrenal function were normal as was the urinary etiocholanolone excretion;abstract;title; -;no;
PMID:5571218; -;PCS;OMIM;RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS; - ; -; inverse retinitis pigmentosa, neurosensory hearing loss;268010;no;no;poor night vision;HP:0000662;impairment in night vision;impairment; -;There has been no further subjective loss of vision in the past 30 years, and he denies any impairment in night vision or color vision;body (FAMILY HISTORY);title, abstract, body (Discussion, Summary; -;no;
PMID:5571218; -;PCS;OMIM;RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS; - ; -; inverse retinitis pigmentosa, neurosensory hearing loss;268010;no;no;poor night vision;HP:0000662;night blindness;impairment; -;The three patients denied any subjective night blindness;body (Discussion);title, abstract, body (Discussion, Summary); -;no;
PMID:7077621;PMC1048839;PCS;OMIM;PHOCOMELIA -ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA; -; -;dysmorphicfacies, conductive deafness, and external ear deformity;171480;no;no;low intelligence;HP:0001249; exact match; -;normal;On examination she was thought to be of normal intelligence but had no intelligible speech;abstract;abstract; -;no;
PMID:7627690; -;PCS;OMIM;"FAMILIAL HDL DEFICIENCY; FHD"; -; -; -;604091;no;no;increased triglycerides;HP:0002155;elevated triglycerides;not; -;The data reveal that the molecular defect in our patients with severe hypoalphalipoproteinemia is not linked to the apo AI -CIII -AIV gene cluster, LCAT activity, elevated triglycerides, or lipoprotein lipase gene defects;abstract;title, abstract; -;no;
PMID:7803799; -;PCS;OMIM;"SPHEROCYTOSIS, TYPE 5; SPH5"; -; -; -;612690;no;no;abnormal leukocyte count;HP:0011893;leukocyte count; -;normal;The leukocyte and platelet counts were normal;body (MATERIAL AND METHODS);body (DISCUSSION; -;no;
PMID:7803799; -;PCS;OMIM;"SPHEROCYTOSIS, TYPE 5; SPH5"; -; -; -;612690;no;no;abnormal platelet count;HP:0011873;platelet count; -;normal;The leukocyte and platelet counts were normal;body (MATERIAL AND METHODS);body (DISCUSSION; -;no;
PMID:8825931;PMC1051784;PCS;OMIM;CAFE-AU-LAIT SPOTS, MULTIPLE;CALS; -; -;114030;no;no;Lisch nodules;HP:0009737;exact match;no; -;On ocular examination no Lisch nodules were found;body;title, abstract, body; -;no;
PMID:8825931;PMC1051784;PCS;OMIM;CAFE-AU-LAIT SPOTS, MULTIPLE;CALS; -; -;114030;no;no;neurofibromas;HP:0001067;exact match;none; -;None of the patient shad either axillary or inguinal freckling or neurofibromas ;body;title, abstract, body; -;no;
PMID:8841193; -;IEA;OMIM;BRODY MYOPATHY; -;ATP2A1;brody disease;601003;no;no;abnormal reflex;HP:0031826;deep tendon reflexes; -;normal;Clinical examination demonstrates normal strength with a single effort, sensation, deep tendon reflexes and progressive difficulty in relaxing muscles during repeated forceful contraction;body;abstract, body (Methods);abstract, body (Methods);no;
PMID:8841193; -;IEA;OMIM;BRODY MYOPATHY; -;ATP2A1;brody disease;601003;no;no;EMG: impaired neuromuscular transmission;HP:0100284;relax fast-twitch skeletal muscles; -;normal;Standard needle electromyography shows normal spontaneous, insertion, and voluntary activity, and no electrical activity;body;abstract, body (Methods);abstract, body (Methods);no;
PMID:8841193; -;IEA;OMIM;BRODY MYOPATHY; -;ATP2A1;brody disease;601003;no;no;percussion myotonia;HP:0010548; exact match;absent; -;Percussion myotonia is absent;body;abstract, body (Methods);abstract, body (Methods);no;
PMID:8841193; -;IEA;OMIM;BRODY MYOPATHY; -;ATP2A1;brody disease;601003;no;no;sensory impairment;HP:0003474;sensation; -;normal;Clinical examination demonstrates normal strength with a single effort, sensation, deep tendon reflexes and progressive difficulty in relaxing muscles during repeated forceful contraction;body;abstract, body (Methods);abstract, body (Methods);no;
PMID:8852669; -;PCS;OMIM;CATARACT, ANTERIOR POLAR, 2; -; -; -;601202;no;no;anterior lenticonus;HP:0011501;exact match;no; -; There was no evidence of anterior lenticonus (symptomatic of Alport syndrome) and no family history of other ocular or systemic abnormalities;body (RESULTS);title, abstract, body (INTRODUCTION, RESULTS, DISCUSSION); -;no;
PMID:9096364;PMC20340;PCS;OMIM;"IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41"; -; -;immunodeficiency ;606367;no;no;autoimmune hemolytic anemia;HP:0001890;hemolytic anemia;no; -;By the age of 3 years he had developed gingivitis, iron deficiency anemia with no evidence of hemolytic anemia, chronic inflammation of his mandible, and chronic lung disease involving the right upper lobe;body (RESULTS AND DISCUSSION);abstract, body (RESULTS AND DISCUSSION); -;no;