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cmungall committed Aug 29, 2016
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4 changes: 3 additions & 1 deletion reports/Makefile
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Expand Up @@ -10,7 +10,9 @@ full.pro: rpt_to_pheno_wg_072915.txt
full_rpt.tsv: full.pro
blip-findall -debug matcher -consult matcher.pro -debug index -goal nlp_index_all -u metadata_nlp -i all_labels.pro -r mondoe -i $< -goal write_tbl > $@

# now wrotes to genes/
# now writes to genes/
#
# after this do this ". mkimg.sh"
rpt: clingen.pro all_labels.pro
blip-findall -consult matcher.pro -debug index -goal nlp_index_all -u metadata_nlp -i all_labels.pro -r mondoe -i $< -goal wall > $@

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207 changes: 194 additions & 13 deletions reports/genes/ABCC9.md
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### Cardiomyopathy
* [DOID:0050700 cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:0050700) Confidence: high
* Equiv:[MESH:D009202 Cardiomyopathies](http://beta.monarchinitiative.org/disease/MESH:D009202)
* Equiv:[Orphanet:167848 Cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:167848)
* Syn: "Cardiomyopathies"
* Syn: "Cardiomyopathies, Primary"
* Syn: "Cardiomyopathies, Secondary"
* Syn: "Cardiomyopathy"
* Syn: "Cardiomyopathy, Primary"
* Syn: "Cardiomyopathy, Secondary"
* Syn: "Disease, Myocardial"
* Syn: "Disease, Primary Myocardial"
* Syn: "Disease, Secondary Myocardial"
* Syn: "Diseases, Myocardial"
* Syn: "Diseases, Primary Myocardial"
* Syn: "Diseases, Secondary Myocardial"
* Syn: "Myocardial Disease"
* Syn: "Myocardial Disease, Primary"
* Syn: "Myocardial Disease, Secondary"
* Syn: "Myocardial Diseases"
* Syn: "Myocardial Diseases, Primary"
* Syn: "Myocardial Diseases, Secondary"
* Syn: "Myocardiopathies"
* Syn: "Myocardiopathy"
* Syn: "Primary Cardiomyopathies"
* Syn: "Primary Cardiomyopathy"
* Syn: "Primary Myocardial Disease"
* Syn: "Primary Myocardial Diseases"
* Syn: "Secondary Cardiomyopathies"
* Syn: "Secondary Cardiomyopathy"
* Syn: "Secondary Myocardial Disease"
* Syn: "Secondary Myocardial Diseases"

### Dilated Cardiomyopathy
* [DOID:12930 dilated cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:12930) Confidence: high
* Equiv:[Orphanet:217604 Dilated cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:217604)
* Syn: "1A, Dilated cardiomyopathy"
* Syn: "1As, Dilated cardiomyopathy"
* Syn: "Cardiomyopathies, Congestive"
* Syn: "Cardiomyopathies, Dilated"
* Syn: "Cardiomyopathies, Familial Idiopathic"
* Syn: "Cardiomyopathies, Idiopathic Dilated"
* Syn: "cardiomyopathy 1A, Dilated"
* Syn: "cardiomyopathy 1As, Dilated"
* Syn: "Cardiomyopathy, Congestive"
* Syn: "Cardiomyopathy, Dilated, 1a"
* Syn: "Cardiomyopathy, Dilated, Autosomal Recessive"
* Syn: "Cardiomyopathy, Dilated, CMD1A"
* Syn: "Cardiomyopathy, Dilated, LMNA"
* Syn: "Cardiomyopathy, Dilated, With Conduction Defect 1"
* Syn: "Cardiomyopathy, Dilated, with Conduction Deffect1"
* Syn: "Cardiomyopathy, Familial Idiopathic"
* Syn: "Cardiomyopathy, Idiopathic Dilated"
* Syn: "Congestive Cardiomyopathies"
* Syn: "Congestive Cardiomyopathy"
* Syn: "Congestive cardiomyopathy"
* Syn: "Dilated Cardiomyopathies"
* Syn: "Dilated Cardiomyopathies, Idiopathic"
* Syn: "Dilated Cardiomyopathy"
* Syn: "Dilated cardiomyopathy 1A"
* Syn: "Dilated cardiomyopathy 1As"
* Syn: "Dilated Cardiomyopathy, Idiopathic"
* Syn: "Familial dilated cardiomyopathy"
* Syn: "Familial Idiopathic Cardiomyopathies"
* Syn: "Familial Idiopathic Cardiomyopathy"
* Syn: "Idiopathic Cardiomyopathies, Familial"
* Syn: "Idiopathic Cardiomyopathy, Familial"
* Syn: "Idiopathic Dilated Cardiomyopathies"
* Syn: "Idiopathic Dilated Cardiomyopathy"
* Syn: "Idiopathic dilation cardiomyopathy"
* Syn: "primary dilated cardiomyopathy"

### HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
* [OMIM:239850 Cantu syndrome](http://beta.monarchinitiative.org/disease/OMIM:239850) Confidence: high
* [OMIM:239850 Hypertrichotic osteochondrodysplasia, Cantu type](http://beta.monarchinitiative.org/disease/OMIM:239850) Confidence: high
* Equiv:[Orphanet:1517 Hypertrichotic osteochondrodysplasia, Cantu type](http://beta.monarchinitiative.org/disease/Orphanet:1517)
* Equiv:[MESH:C535572 Cantu syndrome](http://beta.monarchinitiative.org/disease/MESH:C535572)
* Syn: "CANTU SYNDROME"
* Syn: "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome"
* Syn: "Hypertrichotic Osteochondrodysplasia"
* Syn: "Hypertrichotic osteochondrodysplasia"

### Primary familial hypertrophic cardiomyopathy
* [DOID:11984 hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:11984) Confidence: low/0.1953125
* Equiv:[MESH:D002312 Cardiomyopathy, Hypertrophic](http://beta.monarchinitiative.org/disease/MESH:D002312)
* Equiv:[MESH:D024741 Cardiomyopathy, Hypertrophic, Familial](http://beta.monarchinitiative.org/disease/MESH:D024741)
* Equiv:[Orphanet:217569 Hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:217569)
* Syn: "Cardiomyopathies, Hypertrophic"
* Syn: "Cardiomyopathies, Hypertrophic Obstructive"
* Syn: "Cardiomyopathy, Hypertrophic Obstructive"
* Syn: "familial hypertrophic cardiomyopathy"
* Syn: "Hypertrophic Cardiomyopathies"
* Syn: "Hypertrophic Cardiomyopathy"
* Syn: "Hypertrophic Obstructive Cardiomyopathies"
* Syn: "Hypertrophic Obstructive Cardiomyopathy"
* Syn: "hypertrophic obstructive cardiomyopathy"
* Syn: "Hypertrophic subaortic stenosis"
* Syn: "Obstructive Cardiomyopathies, Hypertrophic"
* Syn: "Obstructive Cardiomyopathy, Hypertrophic"
* Syn: "Obstructive hypertrophic cardiomyopathy"

### Cardiomyopathy
* [DOID:0050700 cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:0050700) Confidence: high
* Equiv:[MESH:D009202 Cardiomyopathies](http://beta.monarchinitiative.org/disease/MESH:D009202)
* Equiv:[Orphanet:167848 Cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:167848)
* Syn: "Cardiomyopathies"
* Syn: "Cardiomyopathies, Primary"
* Syn: "Cardiomyopathies, Secondary"
* Syn: "Cardiomyopathy"
* Syn: "Cardiomyopathy, Primary"
* Syn: "Cardiomyopathy, Secondary"
* Syn: "Disease, Myocardial"
* Syn: "Disease, Primary Myocardial"
* Syn: "Disease, Secondary Myocardial"
* Syn: "Diseases, Myocardial"
* Syn: "Diseases, Primary Myocardial"
* Syn: "Diseases, Secondary Myocardial"
* Syn: "Myocardial Disease"
* Syn: "Myocardial Disease, Primary"
* Syn: "Myocardial Disease, Secondary"
* Syn: "Myocardial Diseases"
* Syn: "Myocardial Diseases, Primary"
* Syn: "Myocardial Diseases, Secondary"
* Syn: "Myocardiopathies"
* Syn: "Myocardiopathy"
* Syn: "Primary Cardiomyopathies"
* Syn: "Primary Cardiomyopathy"
* Syn: "Primary Myocardial Disease"
* Syn: "Primary Myocardial Diseases"
* Syn: "Secondary Cardiomyopathies"
* Syn: "Secondary Cardiomyopathy"
* Syn: "Secondary Myocardial Disease"
* Syn: "Secondary Myocardial Diseases"

### risk of Precocious Myocardial Infarction
* [OMIM:608446 Myocardial Infarction](http://beta.monarchinitiative.org/disease/OMIM:608446) Confidence: low/0.14500000000000002
* [DOID:5844 myocardial infarction](http://beta.monarchinitiative.org/disease/DOID:5844) Confidence: low/0.14500000000000002
* Equiv:[MESH:D009203 Myocardial Infarction](http://beta.monarchinitiative.org/disease/MESH:D009203)
* Syn: "Myocardial Infarction, Protection Against"
* Syn: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO"
* Syn: "Myocardial Infarction, Susceptibility To, 1"
* Syn: "Cardiovascular Stroke"
* Syn: "Cardiovascular Strokes"
* Syn: "Heart Attack"
* Syn: "heart attack"
* Syn: "Heart Attacks"
* Syn: "Infarct, Myocardial"
* Syn: "Infarction, Myocardial"
* Syn: "Infarctions, Myocardial"
* Syn: "Infarcts, Myocardial"
* Syn: "Myocardial Infarct"
* Syn: "Myocardial infarct"
* Syn: "Myocardial Infarctions"
* Syn: "Myocardial Infarcts"
* Syn: "Stroke, Cardiovascular"
* Syn: "Strokes, Cardiovascular"

### Primary familial hypertrophic cardiomyopathy
* [DOID:11984 hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:11984) Confidence: low/0.1953125
* Equiv:[MESH:D002312 Cardiomyopathy, Hypertrophic](http://beta.monarchinitiative.org/disease/MESH:D002312)
* Equiv:[MESH:D024741 Cardiomyopathy, Hypertrophic, Familial](http://beta.monarchinitiative.org/disease/MESH:D024741)
* Equiv:[Orphanet:217569 Hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:217569)
* Syn: "Cardiomyopathies, Hypertrophic"
* Syn: "Cardiomyopathies, Hypertrophic Obstructive"
* Syn: "Cardiomyopathy, Hypertrophic Obstructive"
* Syn: "familial hypertrophic cardiomyopathy"
* Syn: "Hypertrophic Cardiomyopathies"
* Syn: "Hypertrophic Cardiomyopathy"
* Syn: "Hypertrophic Obstructive Cardiomyopathies"
* Syn: "Hypertrophic Obstructive Cardiomyopathy"
* Syn: "hypertrophic obstructive cardiomyopathy"
* Syn: "Hypertrophic subaortic stenosis"
* Syn: "Obstructive Cardiomyopathies, Hypertrophic"
* Syn: "Obstructive Cardiomyopathy, Hypertrophic"
* Syn: "Obstructive hypertrophic cardiomyopathy"

### CARDIOMYOPATHY, DILATED, 1O
* [OMIM:608569 Cardiomyopathy, Dilated, 1o](http://beta.monarchinitiative.org/disease/OMIM:608569) Confidence: high
* [OMIM:608569 Cardiomyopathy, Dilated, 1O](http://beta.monarchinitiative.org/disease/OMIM:608569) Confidence: high
* Equiv:[MESH:C563906 Cardiomyopathy, Dilated, 1o](http://beta.monarchinitiative.org/disease/MESH:C563906)
* Syn: "CARDIOMYOPATHY, DILATED, 1O; CMD1O"
* Syn: "Cardiomyopathy, Dilated, With Ventricular Tachycardia"
* Syn: "Cardiomyopathy, Dilated, with Ventricular Tachycardia"
* Syn: "CMD1O"

### Dilated Cardiomyopathy
* [DOID:12930 dilated cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:12930) Confidence: high
* Equiv:[Orphanet:217604 Dilated cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:217604)
* Syn: "1A, Dilated cardiomyopathy"
* Syn: "1As, Dilated cardiomyopathy"
* Syn: "Cardiomyopathies, Congestive"
* Syn: "Cardiomyopathies, Dilated"
* Syn: "Cardiomyopathies, Familial Idiopathic"
* Syn: "Cardiomyopathies, Idiopathic Dilated"
* Syn: "cardiomyopathy 1A, Dilated"
* Syn: "cardiomyopathy 1As, Dilated"
* Syn: "Cardiomyopathy, Congestive"
* Syn: "Cardiomyopathy, Dilated, 1a"
* Syn: "Cardiomyopathy, Dilated, Autosomal Recessive"
* Syn: "Cardiomyopathy, Dilated, CMD1A"
* Syn: "Cardiomyopathy, Dilated, LMNA"
* Syn: "Cardiomyopathy, Dilated, With Conduction Defect 1"
* Syn: "Cardiomyopathy, Dilated, with Conduction Deffect1"
* Syn: "Cardiomyopathy, Familial Idiopathic"
* Syn: "Cardiomyopathy, Idiopathic Dilated"
* Syn: "Congestive Cardiomyopathies"
* Syn: "Congestive Cardiomyopathy"
* Syn: "Congestive cardiomyopathy"
* Syn: "Dilated Cardiomyopathies"
* Syn: "Dilated Cardiomyopathies, Idiopathic"
* Syn: "Dilated Cardiomyopathy"
* Syn: "Dilated cardiomyopathy 1A"
* Syn: "Dilated cardiomyopathy 1As"
* Syn: "Dilated Cardiomyopathy, Idiopathic"
* Syn: "Familial dilated cardiomyopathy"
* Syn: "Familial Idiopathic Cardiomyopathies"
* Syn: "Familial Idiopathic Cardiomyopathy"
* Syn: "Idiopathic Cardiomyopathies, Familial"
* Syn: "Idiopathic Cardiomyopathy, Familial"
* Syn: "Idiopathic Dilated Cardiomyopathies"
* Syn: "Idiopathic Dilated Cardiomyopathy"
* Syn: "Idiopathic dilation cardiomyopathy"
* Syn: "primary dilated cardiomyopathy"

### Myocardial infarction, association with
* [OMIM:608446 Myocardial Infarction](http://beta.monarchinitiative.org/disease/OMIM:608446) Confidence: low/0.15625
* [DOID:5844 myocardial infarction](http://beta.monarchinitiative.org/disease/DOID:5844) Confidence: low/0.15625
* Equiv:[MESH:D009203 Myocardial Infarction](http://beta.monarchinitiative.org/disease/MESH:D009203)
* Syn: "Myocardial Infarction, Protection Against"
* Syn: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO"
* Syn: "Myocardial Infarction, Susceptibility To, 1"
* Syn: "Cardiovascular Stroke"
* Syn: "Cardiovascular Strokes"
* Syn: "Heart Attack"
* Syn: "heart attack"
* Syn: "Heart Attacks"
* Syn: "Infarct, Myocardial"
* Syn: "Infarction, Myocardial"
* Syn: "Infarctions, Myocardial"
* Syn: "Infarcts, Myocardial"
* Syn: "Myocardial Infarct"
* Syn: "Myocardial infarct"
* Syn: "Myocardial Infarctions"
* Syn: "Myocardial Infarcts"
* Syn: "Stroke, Cardiovascular"
* Syn: "Strokes, Cardiovascular"

### Primary familial hypertrophic cardiomyopathy
* [DOID:11984 hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/DOID:11984) Confidence: low/0.1953125
* Equiv:[MESH:D002312 Cardiomyopathy, Hypertrophic](http://beta.monarchinitiative.org/disease/MESH:D002312)
* Equiv:[MESH:D024741 Cardiomyopathy, Hypertrophic, Familial](http://beta.monarchinitiative.org/disease/MESH:D024741)
* Equiv:[Orphanet:217569 Hypertrophic cardiomyopathy](http://beta.monarchinitiative.org/disease/Orphanet:217569)
* Syn: "Cardiomyopathies, Hypertrophic"
* Syn: "Cardiomyopathies, Hypertrophic Obstructive"
* Syn: "Cardiomyopathy, Hypertrophic Obstructive"
* Syn: "familial hypertrophic cardiomyopathy"
* Syn: "Hypertrophic Cardiomyopathies"
* Syn: "Hypertrophic Cardiomyopathy"
* Syn: "Hypertrophic Obstructive Cardiomyopathies"
* Syn: "Hypertrophic Obstructive Cardiomyopathy"
* Syn: "hypertrophic obstructive cardiomyopathy"
* Syn: "Hypertrophic subaortic stenosis"
* Syn: "Obstructive Cardiomyopathies, Hypertrophic"
* Syn: "Obstructive Cardiomyopathy, Hypertrophic"
* Syn: "Obstructive hypertrophic cardiomyopathy"
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7 changes: 7 additions & 0 deletions reports/genes/ACTA2.md
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* [OMIM:611788 Aortic Aneurysm, Familial Thoracic 6](http://beta.monarchinitiative.org/disease/OMIM:611788) Confidence: high
* Equiv:[MESH:C567085 Aortic Aneurysm, Familial Thoracic 6](http://beta.monarchinitiative.org/disease/MESH:C567085)
* Syn: "AAT6"
* Syn: "Aat6"
* Syn: "AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6"
* Syn: "Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi"
* Syn: "Familial Thoracic Aortic Aneurysm With Livedo Reticularis and Iris Flocculi"

### MOYAMOYA DISEASE 5
Expand All @@ -21,7 +23,9 @@
* [OMIM:611788 Aortic Aneurysm, Familial Thoracic 6](http://beta.monarchinitiative.org/disease/OMIM:611788) Confidence: high
* Equiv:[MESH:C567085 Aortic Aneurysm, Familial Thoracic 6](http://beta.monarchinitiative.org/disease/MESH:C567085)
* Syn: "AAT6"
* Syn: "Aat6"
* Syn: "AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6"
* Syn: "Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi"
* Syn: "Familial Thoracic Aortic Aneurysm With Livedo Reticularis and Iris Flocculi"

### MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Expand All @@ -32,11 +36,14 @@

### Thoracic aortic aneurysms and aortic dissections
* [Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection](http://beta.monarchinitiative.org/disease/Orphanet:91387) Confidence: low/0.19097222222222224
* Syn: "Familial TAAD"

### Thoracic aortic aneurysms and aortic dissections
* [Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection](http://beta.monarchinitiative.org/disease/Orphanet:91387) Confidence: low/0.19097222222222224
* Syn: "Familial TAAD"

### Aortopathy

### Thoracic aortic aneurysms and aortic dissections
* [Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection](http://beta.monarchinitiative.org/disease/Orphanet:91387) Confidence: low/0.19097222222222224
* Syn: "Familial TAAD"
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