Mapping of Swiss-Prot disease comment lines to MeSH terms: results on the benchmark
Colors correspond to a score threshold of -2.5
True positive SP ∩ OMIM
True Positive SP U OMIM
False negative
True negative
False positive
Origine	True / False	Score	Disease	Mapped term	DescriptorUI	Correct term	DescriptorUI	AC	cc line
SP	T	3.1126	idiopathic generalized epilepsy	epilepsy, generalized	D004829	Generalized Epilepsy	D004829	O00305	1
OMIM	T	3.1126	epilepsy, idiopathic generalized	epilepsy, generalized	D004829	Generalized Epilepsy	D004829	O00305	1
SP	T	exact	juvenile myoclonic epilepsy	juvenile myoclonic epilepsy	D020190	Juvenile Myoclonic Epilepsy	D020190	O00305	2
OMIM	T	exact	epilepsy, juvenile myoclonic	epilepsy, juvenile myoclonic	D020190	Juvenile Myoclonic Epilepsy	D020190	O00305	2
SP	T	5.2698	torsion dystonia 1	dystonias, torsion	D004422	Idiopathic Torsion Dystonia	D004422	O14656	1
OMIM	T	8.5451	dystonia musculorum deformans 1	dystonia musculorum deformans	D004422	Idiopathic Torsion Dystonia	D004422	O14656	1
SP	T	1.2915	squamous cell carcinoma of the head and neck	carcinoma, squamous cell	D002294	Squamous Cell Carcinoma | Head and Neck Cancer	D002294 D006258	O14763	1
OMIM	T	1.2915	squamous cell carcinoma, head and neck	carcinoma, squamous cell	D002294	Squamous Cell Carcinoma | Head and Neck Cancer	D002294 D006258	O14763	1
SP	T	-1.2171	progressive familial intrahepatic cholestasis type 1	cholestases, intrahepatic	D002780	Genetic Disease, Inborn | Intrahepatic Cholestasis	D030342 D002780	O43520	1
OMIM	T	4.4199	cholestasis, fatal intrahepatic	cholestases, intrahepatic	D002780	Genetic Disease, Inborn | Intrahepatic Cholestasis	D030342 D002780	O43520	1
SP	T	1.1308	benign recurrent intrahepatic cholestasis	cholestases, intrahepatic	D002780	Genetic Disease, Inborn | Intrahepatic Cholestasis	D030342 D002780	O43520	2
OMIM	T	-0.7496	cholestasis, benign recurrent intrahepatic 1	cholestases, intrahepatic	D002780	Genetic Disease, Inborn | Intrahepatic Cholestasis	D030342 D002780	O43520	2
SP	T	0.8412	recurrent intrahepatic cholestasis of pregnancy	cholestases, intrahepatic	D002780	Intrahepatic Cholestasis | Pregnancy Complications	D002780 D011248	O43520	3
OMIM	T	4.7828	cholestasis, intrahepatic, of pregnancy	cholestases, intrahepatic	D002780	Intrahepatic Cholestasis | Pregnancy Complications	D002780 D011248	O43520	3
SP	T	0.6919	autosomal recessive limb girdle muscular dystrophy type 2b	muscular dystrophies, limb girdle	D049288	Limb-Girdle Muscular Dystrophy	D049288	O75923	1
OMIM	T	4.205	muscular dystrophy, limb-girdle, type 3	muscular dystrophies, limb girdle	D049288	Limb-Girdle Muscular Dystrophy	D049288	O75923	1
SP	T	exact	bladder cancer	bladder cancer	D001749	Bladder Cancer	D001749	P01112	3
OMIM	T	exact	bladder cancer	bladder cancer	D001749	Bladder Cancer	D001749	P01112	3
SP	T	1.9776	spondyloepiphyseal dysplasia congenital type	spondyloepiphyseal dysplasias	D010009	Genetic Disease, Inborn | Abnormalities, Multiple | Spondyloepiphyseal Dysplasia | Dwarfism	D030342 D000015 D010009 D004392	P02458	2
OMIM	T	3.7594	spondyloepiphyseal dysplasia congenita	spondyloepiphyseal dysplasias	D010009	Genetic Disease, Inborn | Abnormalities, Multiple | Spondyloepiphyseal Dysplasia | Dwarfism	D030342 D000015 D010009 D004392	P02458	2
SP	T	0.1118	primary avascular necrosis of femoral head	necrosis, avascular, of femur head	D005271	Avascular Necrosis of Femur Head	D005271	P02458	6
OMIM	T	2.4825	femoral head, avascular necrosis of	necrosis, avascular, of femur head	D005271	Avascular Necrosis of Femur Head	D005271	P02458	6
SP	T	-0.8968	multiple epiphyseal dysplasia with myopia and conductive deafness	dysplasias, multiple epiphyseal	D010009	Genetic Disease, Inborn | Abnormalities, Multiple | Multiple Epiphyseal Dysplasia | Eye Diseases | Hearing Loss, Conductive | Dwarfism	D030342 D000015 D010009 D005128 D006314 D004392	P02458	9
OMIM	T	-0.8968	epiphyseal dysplasia, multiple, with myopia and conductive deafness	dysplasias, multiple epiphyseal	D010009	Genetic Disease, Inborn | Abnormalities, Multiple | Multiple Epiphyseal Dysplasia | Eye Diseases | Hearing Loss, Conductive | Dwarfism	D030342 D000015 D010009 D005128 D006314 D004392	P02458	9
SP	T	-2.0082	autosomal dominant rhegmatogenous retinal detachment	detachments, retinal	D012163	Eye Disease, Hereditary | Retinal Detachment	D015785 D012163	P02458	13
OMIM	T	-2.0082	rhegmatogenous retinal detachment, autosomal dominant	detachments, retinal	D012163	Eye Disease, Hereditary | Retinal Detachment	D015785 D012163	P02458	13
SP	T	-1.4586	low hdl levels observed in high density lipoprotein deficiency type 1	high density lipoprotein deficiency, type i	D013631	Tangier Disease	D013631	P02647	2
OMIM	T	exact	tangier disease	tangier disease	D013631	Tangier Disease	D013631	P02647	2
SP	T	exact	congenital insensitivity to pain with anhidrosis	congenital insensitivity to pain with anhidrosis	D009477	Congenital Insensitivity to Pain with Anhidrosis	D009477	P04629	1
OMIM	T	exact	insensitivity to pain, congenital, with anhidrosis	insensitivity to pain with anhidrosis, congenital	D009477	Congenital Insensitivity to Pain with Anhidrosis	D009477	P04629	1
SP	T	3.4424	thyroid papillary carcinoma	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P04629	2
OMIM	T	3.4424	thyroid carcinoma, papillary	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P04629	2
SP	T	3.4424	thyroid papillary carcinoma	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P04629	3
OMIM	T	3.4424	thyroid carcinoma, papillary	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P04629	3
SP	T	2.1909	hypophosphatasia infantile	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	1
OMIM	T	2.1909	hypophosphatasia, infantile	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	1
SP	T	2.3017	hypophosphatasia childhood	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	2
OMIM	T	2.3017	hypophosphatasia, childhood	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	2
SP	T	-0.8011	hypophosphatasia adult type	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	3
OMIM	T	1.9116	hypophosphatasia, mild	hypophosphatasias	D007014	Hypophosphatasia	D007014	P05186	3
SP	T	1.9252	nemaline myopathy type 1	myopathies, nemaline	D017696	Childhood Onset Nemaline Myopathy | Autosomal Dominant Nemaline Myopathy	D017696 D017696	P06753	1
OMIM	T	4.825	nemaline myopathy 1	myopathies, nemaline	D017696	Childhood Onset Nemaline Myopathy | Autosomal Dominant Nemaline Myopathy	D017696 D017696	P06753	1
SP	T	3.4424	thyroid papillary carcinoma	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P06753	2
OMIM	T	3.4424	thyroid carcinoma, papillary	carcinoma, papillary	D002291	Thyroid Carcinoma | Papillary Carcinoma	D013964 D002291	P06753	2
SP	T	-1.7911	autosomal dominant cataract	cataract	D002386	Genetic Disease, Inborn | Cataract	D030342 D002386	P07315	1
OMIM	T	-1.7911	cataract, autosomal dominant	cataract	D002386	Genetic Disease, Inborn | Cataract	D030342 D002386	P07315	1
SP	T	2.3801	familial hypertrophic cardiomyopathy type 8	cardiomyopathies, familial hypertrophic	D024741	Cardiomyopathy, Hypertrophic, Familial	D024741	P08590	1
OMIM	T	exact	cardiomyopathy, familial hypertrophic	cardiomyopathy, familial hypertrophic	D024741	Cardiomyopathy, Hypertrophic, Familial	D024741	P08590	1
SP	T	exact	fructose-1,6- bisphosphatase deficiency	fructose 1,6 bisphosphatase deficiency	D015319	Fructose-1,6-Bisphosphatase Deficiency	D015319	P09467	1
OMIM	T	exact	fructose-1,6-bisphosphatase deficiency	fructose-1,6-bisphosphatase deficiency	D015319	Fructose-1,6-Bisphosphatase Deficiency	D015319	P09467	1
SP	T	exact	pfeiffer syndrome	pfeiffer syndrome	D000168	Pfeiffer Syndrome	D000168	P11362	1
OMIM	T	exact	pfeiffer syndrome	pfeiffer syndrome	D000168	Pfeiffer Syndrome	D000168	P11362	1
SP	T	4.6839	isolated hypogonadotropic hypogonadism	hypogonadotropic hypogonadism	D007006	Hypogonadotropic Hypogonadism	D007006	P11362	2
OMIM	T	exact	hypogonadotropic hypogonadism	hypogonadotropic hypogonadism	D007006	Hypogonadotropic Hypogonadism	D007006	P11362	2
SP	T	3.2191	kallmann syndrome type 2	kallmann syndrome 2	D017436	Kallmann Syndrome 2	D017436	P11362	3
OMIM	T	exact	kallmann syndrome 2	kallmann syndrome 2	D017436	Kallmann Syndrome 2	D017436	P11362	3
SP	T	2.9655	epidermolysis bullosa simplex dowling-meara type	epidermolysis bullosa herpetiformis dowling meara	D016110	Epidermolysis Bullosa Herpetiformis Dowling-Meara	D016110	P13647	2
OMIM	T	10.39	epidermolysis bullosa herpetiformis, dowling-meara type	epidermolysis bullosa herpetiformis dowling meara	D016110	Epidermolysis Bullosa Herpetiformis Dowling-Meara	D016110	P13647	2
SP	T	-1.671	epidermolysis bullosa simplex with migratory circinate erythema	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex	D016110	P13647	3
OMIM	T	-1.671	epidermolysis bullosa simplex with migratory circinate erythema	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex	D016110	P13647	3
SP	T	2.3614	epidermolysis bullosa simplex koebner type	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex Kobner	D016110	P13647	5
OMIM	T	2.3614	epidermolysis bullosa simplex, koebner type	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex Kobner	D016110	P13647	5
SP	T	1.4035	epidermolysis bullosa simplex with mottled pigmentation	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex	D016110	P13647	6
OMIM	T	1.4035	epidermolysis bullosa simplex with mottled pigmentation	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex	D016110	P13647	6
SP	T	4.5728	acute hepatic porphyria	porphyria, hepatic	D017094	hepatic porphyria	D017094	P13716	1
OMIM	T	4.5728	porphyria, acute hepatic	porphyria, hepatic	D017094	hepatic porphyria	D017094	P13716	1
SP	T	exact	metachromatic leukodystrophy	metachromatic leukodystrophy	D007966	Metachromatic Leukodystrophy	D007966	P15289	1
OMIM	T	exact	metachromatic leukodystrophy	metachromatic leukodystrophy	D007966	Metachromatic Leukodystrophy	D007966	P15289	1
SP	T	exact	multiple sulfatase deficiency	multiple sulfatase deficiency	D052517	Multiple Sulfatase Deficiency Disease	D052517	P15289	2
OMIM	T	exact	multiple sulfatase deficiency	multiple sulfatase deficiency	D052517	Multiple Sulfatase Deficiency Disease	D052517	P15289	2
SP	T	-1.1222	autosomal dominant nocturnal frontal lobe epilepsy type 3	frontal lobe epilepsies	D017034	Genetic Disease, Inborn | Epilepsy, Frontal Lobe	D030342 D017034	P17787	1
OMIM	T	1.184	epilepsy, nocturnal frontal lobe, type 3	frontal lobe epilepsies	D017034	Genetic Disease, Inborn | Epilepsy, Frontal Lobe	D030342 D017034	P17787	1
SP	T	-2.1573	familial erythrocytosis type 1	erythrocytoses	D011086	Genetic Disease, Inborn | Erythrocytosis	D030342 D011086	P19235	1
OMIM	T	-0.6183	erythrocytosis, familial, 1	erythrocytoses	D011086	Genetic Disease, Inborn | Erythrocytosis	D030342 D011086	P19235	1
SP	T	exact	melnick-needles syndrome	melnick-needles syndrome	D010009	Melnick-Needles Syndrome	D010009	P21333	6
OMIM	T	exact	melnick-needles syndrome	melnick-needles syndrome	D010009	Melnick-Needles Syndrome	D010009	P21333	6
SP	T	2.6771	x-linked congenital idiopathic intestinal pseudoobstruction	idiopathic intestinal pseudo-obstructions	D007418	Genetic Disease, X-Linked | Digestive System Abnormalities | Intestinal Pseudo-Obstruction	D040181 D004065 D007418	P21333	8
OMIM	T	7.3371	congenital idiopathic intestinal pseudoobstruction	idiopathic intestinal pseudo-obstructions	D007418	Genetic Disease, X-Linked | Digestive System Abnormalities | Intestinal Pseudo-Obstruction	D040181 D004065 D007418	P21333	8
SP	T	2.3769	autosomal recessive lamellar ichthyosis	ichthyosis, lamellar	D017490	Lamellar Ichthyosis	D017490	P22735	1
OMIM	T	exact	lamellar ichthyosis	lamellar ichthyosis	D017490	Lamellar Ichthyosis	D017490	P22735	1
SP	T	0.678	waardenburg syndrome type i	waardenburg syndrome	D014849	Waardenburg's Syndrome	D014849	P23760	1
OMIM	T	0.678	waardenburg syndrome, type i	waardenburg syndrome	D014849	Waardenburg's Syndrome	D014849	P23760	1
SP	T	0.3996	waardenburg syndrome type iii	waardenburg syndrome	D014849	Waardenburg-Klein Syndrome	D014849	P23760	2
OMIM	T	exact	klein-waardenburg syndrome	klein-waardenburg syndrome	D014849	Waardenburg-Klein Syndrome	D014849	P23760	2
SP	T	6.8316	fuchs endothelial corneal dystrophy	fuchs endothelial dystrophy	D005642	Fuchs Endothelial Dystrophy	D005642	P25067	2
OMIM	T	3.8111	corneal dystrophy, fuchs endothelial, 1	fuchs endothelial dystrophy	D005642	Fuchs Endothelial Dystrophy	D005642	P25067	2
SP	T	-0.3954	adrenal hyperplasia type 2	adrenal hyperplasias, congenital	D000312	Congenital Adrenal Hyperplasia	D000312	P26439	1
OMIM	T	1.5101	adrenal hyperplasia ii	adrenal hyperplasias, congenital	D000312	Congenital Adrenal Hyperplasia	D000312	P26439	1
SP	T	6.8255	congenital pulmonary alveolar proteinosis	alveolar proteinosis, pulmonary	D011649	Genetic Disease, Inborn | Pulmonary Alveolar Proteinosis	D030342 D011649	P32927	1
OMIM	T	-1.8404	pulmonary alveolar proteinosis due to surfactant protein b deficiency	alveolar proteinosis, pulmonary	D011649	Genetic Disease, Inborn | Pulmonary Alveolar Proteinosis	D030342 D011649	P32927	1
SP	T	exact	pilomatrixoma	pilomatrixoma	D018296	Pilomatrixoma	D018296	P35222	2
OMIM	T	exact	pilomatrixoma	pilomatrixoma	D018296	Pilomatrixoma	D018296	P35222	2
SP	T	exact	medulloblastoma	medulloblastoma	D008527	Medulloblastoma	D008527	P35222	3
OMIM	T	exact	medulloblastoma	medulloblastoma	D008527	Medulloblastoma	D008527	P35222	3
SP	T	-0.2049	paramyotonia congenita of von eulenburg	congenita, paramyotonia	D020967	Eulenburg Disease	D020967	P35499	1
OMIM	T	-0.2049	paramyotonia congenita of von eulenburg	congenita, paramyotonia	D020967	Eulenburg Disease	D020967	P35499	1
SP	T	exact	hypokalemic periodic paralysis	hypokalemic periodic paralysis	D020514	Hypokalemic Periodic Paralysis	D020514	P35499	2
OMIM	T	exact	hypokalemic periodic paralysis	hypokalemic periodic paralysis	D020514	Hypokalemic Periodic Paralysis	D020514	P35499	2
SP	T	exact	hyperkalemic periodic paralysis	hyperkalemic periodic paralysis	D020513	Hyperkalemic Periodic Paralysis	D020513	P35499	3
OMIM	T	exact	hyperkalemic periodic paralysis	hyperkalemic periodic paralysis	D020513	Hyperkalemic Periodic Paralysis	D020513	P35499	3
SP	T	exact	marfan syndrome	marfan syndrome	D008382	Marfan Syndrome	D008382	P35555	1
OMIM	T	exact	marfan syndrome	marfan syndrome	D008382	Marfan Syndrome	D008382	P35555	1
SP	T	6.1018	isolated ectopia lentis	ectopia lentis	D004479	Genetic Disease, Inborn | Ectopia Lentis	D030342 D004479	P35555	2
OMIM	T	7.1052	ectopia lentis, familial	ectopia lentis	D004479	Genetic Disease, Inborn | Ectopia Lentis	D030342 D004479	P35555	2
SP	T	exact	hereditary coproporphyria	hereditary coproporphyria	D046349	Hereditary Coproporphyria	D046349	P36551	1
OMIM	T	exact	coproporphyrinogen oxidase deficiency	coproporphyrinogen oxidase deficiency	D046349	Hereditary Coproporphyria	D046349	P36551	1
SP	T	exact	cowden disease	cowden disease	D006223	Cowden Disease	D006223	P36894	2
OMIM	T	exact	cowden disease	cowden disease	D006223	Cowden Disease	D006223	P36894	2
SP	T	2.7763	x-linked alpha- thalassemia/mental retardation syndrome	x-linked mental retardation syndromes	D038901	Mental Retardation, X-Linked | alpha-Thalassemia | Abnormalities, Multiple | Urogenital Abnormalities | Craniofacial Abnormalities	D038901 D017085 D000015 D014564 D019465	P46100	1
OMIM	T	-0.5131	alpha-thalassemia/mental retardation syndrome, nondeletion type, x-linked	x-linked mental retardation syndromes	D038901	Mental Retardation, X-Linked | alpha-Thalassemia | Abnormalities, Multiple | Urogenital Abnormalities | Craniofacial Abnormalities	D038901 D017085 D000015 D014564 D019465	P46100	1
SP	T	-0.0746	mental retardation x- linked with hypotonic facies syndrome type 1	x-linked mental retardation syndromes	D038901	Mental Retardation, X-Linked | Abnormalities, Multiple | Craniofacial Abnormalities	D038901 D000015 D019465	P46100	2
OMIM	T	0.8827	mental retardation, x-linked, with growth retardation, deafness, and microgenitalism	mental retardation, x linked	D038901	Mental Retardation, X-Linked | Abnormalities, Multiple | Craniofacial Abnormalities	D038901 D000015 D019465	P46100	2
SP	T	0.5159	alpha-thalassemia myelodysplasia syndrome	alpha-thalassemia	D017085	alpha-Thalassemia | Hematologic Diseases | Genetic Diseases, X-Linked	D017085 D006402 D040181	P46100	3
OMIM	T	2.1204	hemoglobin h disease, acquired	hemoglobin h diseases	D017085	alpha-Thalassemia | Hematologic Diseases | Genetic Diseases, X-Linked	D017085 D006402 D040181	P46100	3
SP	T	1.8158	familial early-onset alzheimer disease type 3	early onset alzheimer disease	D000544	Early Onset Alzheimer Disease | Genetic Disease, Inborn	D000544 D030342	P49768	1
OMIM	T	5.6049	alzheimer disease 3, early-onset	early onset alzheimer disease	D000544	Early Onset Alzheimer Disease | Genetic Disease, Inborn	D000544 D030342	P49768	1
SP	T	6.5376	familial hemiplegic migraine 2	familial hemiplegic migraines	D020325	Hemiplegic Migraine, Familial	D020325	P50993	1
OMIM	T	6.5376	migraine, familial hemiplegic, 2	familial hemiplegic migraines	D020325	Hemiplegic Migraine, Familial	D020325	P50993	1
SP	T	2.0627	long qt syndrome type 1	long qt syndrome 1	D029597	Long QT Syndrome 1	D029597	P51787	1
OMIM	T	exact	long qt syndrome 1	long qt syndrome 1	D029597	Long QT Syndrome 1	D029597	P51787	1
SP	T	exact	jervell and lange-nielsen syndrome	jervell and lange-nielsen syndrome	D029593	Jervell and Lange-Nielsen Syndrome	D029593	P51787	2
OMIM	T	exact	jervell and lange-nielsen syndrome	jervell and lange-nielsen syndrome	D029593	Jervell and Lange-Nielsen Syndrome	D029593	P51787	2
SP	T	exact	atrial fibrillation	atrial fibrillation	D001281	Genetic Disease, Inborn | Atrial Fibrillation	D030342 D001281	P51787	3
OMIM	T	2.2346	atrial fibrillation, autosomal dominant	fibrillations, atrial	D001281	Genetic Disease, Inborn | Atrial Fibrillation	D030342 D001281	P51787	3
SP	T	0.8697	bartter syndrome type 3	syndrome, bartter	D001477	Bartter Syndrome	D001477	P51801	1
OMIM	T	2.3043	bartter syndrome, classic	syndrome, bartter	D001477	Bartter Syndrome	D001477	P51801	1
SP	T	-2.0166	hemochromatosis type 2b	hemochromatoses	D006432	Hemochromatosis	D006432	P81172	1
OMIM	T	1.8331	hemochromatosis, juvenile	hemochromatoses	D006432	Hemochromatosis	D006432	P81172	1
SP	T	exact	pachyonychia congenita type 2	type 2 pachyonychia congenita	D053549	Pachyonychia Congenita, Type 2	D053549	Q04695	1
OMIM	T	exact	pachyonychia congenita, type 2	pachyonychia congenita, type 2	D053549	Pachyonychia Congenita, Type 2	D053549	Q04695	1
SP	T	exact	thyroid dysgenesis	thyroid dysgenesis	D050033	Thyroid Dysgenesis	D050033	Q06710	1
OMIM	T	exact	thyroid dysgenesis	thyroid dysgenesis	D050033	Thyroid Dysgenesis	D050033	Q06710	1
SP	T	exact	zellweger syndrome	zellweger syndrome	D015211	Zellweger Syndrome	D015211	Q13608	2
OMIM	T	exact	zellweger syndrome	zellweger syndrome	D015211	Zellweger Syndrome	D015211	Q13608	2
SP	T	exact	hypokalemic periodic paralysis	hypokalemic periodic paralysis	D020514	Hypokalemic Periodic Paralysis	D020514	Q13698	1
OMIM	T	exact	hypokalemic periodic paralysis	hypokalemic periodic paralysis	D020514	Hypokalemic Periodic Paralysis	D020514	Q13698	1
SP	T	1.124	malignant hyperthermia susceptibility 5	malignant hyperthermias	D008305	Malignant Hyperthermia | Genetic Predisposition to Disease	D008305 D020022	Q13698	2
OMIM	T	1.124	malignant hyperthermia, susceptibility to, 5	malignant hyperthermias	D008305	Malignant Hyperthermia | Genetic Predisposition to Disease	D008305 D020022	Q13698	2
SP	T	exact	cleidocranial dysplasia	cleidocranial dysplasia	D002973	Cleidocranial Dysplasia	D002973	Q13950	1
OMIM	T	exact	cleidocranial dysplasia	cleidocranial dysplasia	D002973	Cleidocranial Dysplasia	D002973	Q13950	1
SP	T	1.3122	ocular coloboma	colobomas	D003103	Coloboma	D003103	Q15465	1
OMIM	T	1.3122	coloboma, ocular	colobomas	D003103	Coloboma	D003103	Q15465	1
SP	T	-1.0034	holoprosencephaly type 3	holoprosencephalies	D016142	Holoprosencephaly	D016142	Q15465	2
OMIM	T	1.882	holoprosencephaly 3	holoprosencephalies	D016142	Holoprosencephaly	D016142	Q15465	2
SP	T	3.2182	hereditary multiple exostoses type 1	exostosis, hereditary multiple	D005097	Hereditary Multiple Exostoses	D005097	Q16394	1
OMIM	T	exact	multiple cartilaginous exostoses	multiple cartilaginous exostoses	D005097	Hereditary Multiple Exostoses	D005097	Q16394	1
SP	T	exact	chondrosarcoma	chondrosarcoma	D002813	Chondrosarcoma	D002813	Q16394	3
OMIM	T	exact	chondrosarcoma	chondrosarcoma	D002813	Chondrosarcoma	D002813	Q16394	3
SP	T	exact	dyslexia	dyslexia	D004410	Dyslexia | Genetic Predisposition to Disease	D004410 D020022	Q5VV43	1
OMIM	T	-1.3579	reading disability, specific, 2	developmental reading disabilities	D004410	Dyslexia | Genetic Predisposition to Disease	D004410 D020022	Q5VV43	1
SP	T	-0.7092	autosomal recessive osteopetrosis	osteopetrosis	D010022	Osteopetrosis | Genetic Disease, Inborn	D010022 D030342	Q86WC4	1
OMIM	T	4.0659	albers-schonberg disease, autosomal recessive	disease, albers-schoenberg	D010022	Osteopetrosis | Genetic Disease, Inborn	D010022 D030342	Q86WC4	1
SP	T	2.7339	bardet-biedl syndrome type 10	bardet-biedl syndrome	D020788	Bardet-Biedl Syndrome	D020788	Q8TAM1	1
OMIM	T	exact	bardet-biedl syndrome	bardet-biedl syndrome	D020788	Bardet-Biedl Syndrome	D020788	Q8TAM1	1
SP	T	0.7775	primary open angle glaucoma type 1e	glaucoma, open-angle	D005902	Open Angle Glaucoma	D005902	Q96CV9	1
OMIM	T	6.7831	glaucoma, primary open angle	glaucoma, open-angle	D005902	Open Angle Glaucoma	D005902	Q96CV9	1
SP	T	-1.4367	severe combined immunodeficiency with sensitivity to ionizing radiation	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	1
OMIM	T	4.9303	severe combined immunodeficiency, partial	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	1
SP	T	-1.5294	athabascan scid	scid	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	2
OMIM	T	4.9303	severe combined immunodeficiency, partial	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	2
SP	T	4.9303	partial severe combined immunodeficiency	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	3
OMIM	T	4.9303	severe combined immunodeficiency, partial	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	3
SP	T	exact	macular corneal dystrophy	macular dystrophy, corneal	D003317	Macular Dystrophy, Corneal	D003317	Q9GZX3	1
OMIM	T	6.1515	corneal dystrophy, macular type	macular dystrophy, corneal	D003317	Macular Dystrophy, Corneal	D003317	Q9GZX3	1
SP	T	-2.2768	congenital muscular dystrophy type 1c	dystrophies, muscular	D009136	Muscular Dystrophy	D009136	Q9H9S5	1
OMIM	T	-1.1525	muscular dystrophy, congenital, 1c	dystrophies, muscular	D009136	Muscular Dystrophy	D009136	Q9H9S5	1
SP	T	3.0717	limb-girdle muscular dystrophy type 2i	muscular dystrophies, limb girdle	D049288	Limb-Girdle Muscular Dystrophy	D049288	Q9H9S5	2
OMIM	T	3.0717	muscular dystrophy, limb-girdle, type 2i	muscular dystrophies, limb girdle	D049288	Limb-Girdle Muscular Dystrophy	D049288	Q9H9S5	2
SP	T	-1.0666	hemochromatosis type 4	hemochromatoses	D006432	Hemochromatosis	D006432	Q9NP59	1
OMIM	T	-0.7757	hemochromatosis, autosomal dominant	hemochromatoses	D006432	Hemochromatosis	D006432	Q9NP59	1
SP	T	exact	sialuria	sialuria	D029461	Sialuria	D029461	Q9Y223	1
OMIM	T	exact	sialuria	sialuria	D029461	Sialuria	D029461	Q9Y223	1
SP	F	-3.7089	miyoshi myopathy	myopathy	D009135	Distal Muscular Dystrophy	D049310	O75923	2
OMIM	T	-0.8909	muscular dystrophy, distal, late-onset, autosomal recessive	distal muscular dystrophy	D049310	Distal Muscular Dystrophy	D049310	O75923	2
SP	T	0.6097	stem cell myeloproliferative disorder	disorder, myeloproliferative	D009196	Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	O95684	1
OMIM	no OMIM					Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	O95684	1
SP	T	4.5277	oral squamous cell carcinoma	carcinoma, squamous cell	D002294	Squamous Cell Carcinoma | Oral Cancer	D002294 D009062	P01112	4
OMIM	no OMIM					Squamous Cell Carcinoma | Oral Cancer	D002294 D009062	P01112	4
SP	F	5.3478	high density lipoprotein deficiency type 2	high density lipoprotein deficiency, type i	D013631	Hypoalphalipoproteinemia, Familial	D052456	P02647	1
OMIM	T	exact	hypoalphalipoproteinemia, familial	hypoalphalipoproteinemia, familial	D052456	Hypoalphalipoproteinemia, Familial	D052456	P02647	1
SP	F	-5.9912	systemic non-neuropathic amyloidosis	amyloidoses	D000686	Amyloidosis, Familial	D028226	P02647	3
OMIM	T	3.5746	amyloidosis, familial renal	familial amyloidoses	D028226	Amyloidosis, Familial	D028226	P02647	3
SP	T	-1.0552	senile cataract	cataract	D002386	Genetic Predisposition to Disease | Cataract	D020022 D002386	P07315	3
OMIM	no OMIM					Genetic Predisposition to Disease | Cataract	D020022 D002386	P07315	3
SP	F	-5.5317	hypertrophic cardiomyopathy with mid-left ventricular chamber type 1	hypertrophic cardiomyopathies	D002312	Cardiomyopathy, Hypertrophic, Familial	D024741	P08590	2
OMIM	T	4.6686	cardiomyopathy, familial hypertrophic, 8	cardiomyopathies, familial hypertrophic	D024741	Cardiomyopathy, Hypertrophic, Familial	D024741	P08590	2
SP	F	3.4296	glycogen storage disease type 2	glycogen storage disease type i	D005953	Glycogen Storage Disease Type II	D006009	P10253	1
OMIM	T	exact	pompe disease	pompe disease	D006009	Glycogen Storage Disease Type II	D006009	P10253	1
SP	F	-8.4762	osteoglophonic dysplasia	bone dysplasia	D001848	Dwarfism | Osteochondrodysplasia | Craniosynostosis	D004392 D010009 D003398	P11362	4
OMIM	T	-2.0749	osteoglophonic dwarfism	dwarfism	D004392	Dwarfism | Osteochondrodysplasia | Craniosynostosis	D004392 D010009 D003398	P11362	4
SP	F	-22.885	non-syndromic trigonocephaly	lymphoma, non hodgkin's	D008228	Craniosynostosis	D003398	P11362	5
OMIM	T	-2.2773	craniosynostosis, metopic	craniosynostoses	D003398	Craniosynostosis	D003398	P11362	5
SP	T	0.6097	stem cell myeloproliferative disorder	disorder, myeloproliferative	D009196	Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	P11362	7
OMIM	no OMIM					Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	P11362	7
SP	T	exact	epidermolysis bullosa simplex	epidermolysis bullosa simplex	D016110	Epidermolysis Bullosa Simplex	D016110	P13647	1
OMIM	F	exact	epidermolysis bullosa dystrophica, cockayne-touraine type	epidermolysis bullosa dystrophica, cockayne-touraine type	D016108	Epidermolysis Bullosa Simplex	D016110	P13647	1
SP	T	exact	schizophrenia	schizophrenia	D012559	Schizophrenia	D012559	P21918	1
OMIM	no OMIM					Schizophrenia	D012559	P21918	1
SP	T	exact	blepharospasm	blepharospasm	D001764	Blepharospasm	D001764	P21918	2
OMIM	F	-0.7357	blepharospasm, benign essential	essential tremors, benign	D020329	Blepharospasm	D001764	P21918	2
SP	F	2.3495	non-bullous congenital ichthyosiform erythroderma	congenital ichthyosiform erythroderma	D016113	Nonbullous Congenital Ichthyosiform Erythroderma	D017490	P22735	2
OMIM	T	8.1821	ichthyosiform erythroderma, congenital, nonbullous, 1	ichthyosiform erythroderma, nonbullous congenital	D017490	Nonbullous Congenital Ichthyosiform Erythroderma	D017490	P22735	2
SP	F	2.4413	rhabdomyosarcoma 2	rhabdomyosarcoma	D012208	Alveolar Rhabdomyosarcoma	D018232	P23760	4
OMIM	T	exact	rhabdomyosarcoma, alveolar	rhabdomyosarcoma, alveolar	D018232	Alveolar Rhabdomyosarcoma	D018232	P23760	4
SP	T	-3.8405	posterior polymorphous corneal dystrophy	hereditary corneal dystrophies	D003317	Corneal Dystrophy, Hereditary	D003317	P25067	1
OMIM	T	0.5274	corneal dystrophy, hereditary polymorphous posterior	hereditary corneal dystrophies	D003317	Corneal Dystrophy, Hereditary	D003317	P25067	1
SP	T	-0.8576	tumor development	tumors	D009369	Neoplasms	D009369	P35222	1
OMIM	no OMIM					Neoplasms	D009369	P35222	1
SP	F	-6.6606	autosomal dominant potassium-aggravated myotonia	myotonias	D009222	Myotonic Disorder	D020967	P35499	4
OMIM	T	exact	myotonia fluctuans	myotonia fluctuans	D020967	Myotonic Disorder	D020967	P35499	4
SP	T	exact	congenital myasthenic syndrome	congenital myasthenic syndrome	D020294	Congenital Myasthenic Syndrome	D020294	P35499	5
OMIM	T	-5.1729	myasthenic syndrome due to mutation in scn4a	congenital myasthenic syndrome	D020294	Congenital Myasthenic Syndrome	D020294	P35499	5
SP	F	-1.1235	mass syndrome	mass behaviors	D008399	Bone Diseases, Developmental | Heart Defects, Congenital | Abnormalities, Multiple | Genetic Diseases, Inborn | Connective Tissue Diseases	D001848 D006330 D000015 D030342 D003240	P35555	5
OMIM	T	3.8553	overlap connective tissue disease	diseases, connective tissue	D003240	Bone Diseases, Developmental | Heart Defects, Congenital | Abnormalities, Multiple | Genetic Diseases, Inborn | Connective Tissue Diseases	D001848 D006330 D000015 D030342 D003240	P35555	5
SP	F	-0.1875	juvenile polyposis syndrome	familial polyposis syndrome	D011125	Intestinal Polyposis | Neoplastic Syndrome, Hereditary | Gastrointestinal Neoplasms | Hamartomas	D044483 D009386 D005770 D006222	P36894	1
OMIM	T	4.4418	polyposis, juvenile intestinal	intestinal polyposis	D044483	Intestinal Polyposis | Neoplastic Syndrome, Hereditary | Gastrointestinal Neoplasms | Hamartomas	D044483 D009386 D005770 D006222	P36894	1
SP	T	-1.9767	maternal acute fatty liver of pregnancy	liver, fatty	D005234	Pregnancy Complications | Fatty Liver	D011248 D005234	P40939	3
OMIM	F	-7.5206	lchad deficiency	deficiency diseases	D003677	Pregnancy Complications | Fatty Liver	D011248 D005234	P40939	3
SP	T	-0.0964	pro-lymphocytic t-cell leukemia	t-cell leukemia	D015458	Leukemia, T-Cell	D015458	P46736	1
OMIM	no OMIM					Leukemia, T-Cell	D015458	P46736	1
SP	T	-2.9147	frontotemporal dementia	lobar degenerations, frontotemporal	D003704	Frontotemporal Lobar Degeneration	D003704	P49768	2
OMIM	T	exact	frontotemporal lobar degeneration	frontotemporal lobar degeneration	D003704	Frontotemporal Lobar Degeneration	D003704	P49768	2
SP	F	4.3752	myotonic dystrophy 2	dystrophies, myotonic	D009223	Proximal Myotonic Myopathy	D020967	P62633	1
OMIM	T	exact	proximal myotonic myopathy	proximal myotonic myopathy	D020967	Proximal Myotonic Myopathy	D020967	P62633	1
SP	T	1.617	non-syndromal x-linked mental retardation	mental retardation, x linked	D038901	Mental Retardation, X-Linked	D038901	P98174	2
OMIM	no OMIM					Mental Retardation, X-Linked	D038901	P98174	2
SP	F	-8.7353	steatocystoma multiplex	mononeuropathy multiplex	D020422	Skin Disease, Genetic | Sebaceous Cysts	D012873 D004814	Q04695	2
OMIM	T	4.6464	sebaceous cysts, multiple	cysts, sebaceous	D004814	Skin Disease, Genetic | Sebaceous Cysts	D012873 D004814	Q04695	2
SP	T	exact	acute promyelocytic leukemia	acute promyelocytic leukemia	D015473	Acute Promyelocytic Leukemia	D015473	Q05516	1
OMIM	no OMIM					Acute Promyelocytic Leukemia	D015473	Q05516	1
SP	T	-2.7175	myokymia with periodic ataxia	myokymia	D020385	Genetic Disease, Inborn | Neuromuscular Disease | Ataxia | Myokymia	D030342 D009468 D001259 D020385	Q09470	1
OMIM	T	exact	myokymia	myokymia	D020385	Genetic Disease, Inborn | Neuromuscular Disease | Ataxia | Myokymia	D030342 D009468 D001259 D020385	Q09470	1
SP	T	3.8352	x-linked mental retardation in xq13	mental retardation, x linked	D038901	Mental Retardation, X-Linked	D038901	Q14202	1
OMIM	no OMIM					Mental Retardation, X-Linked	D038901	Q14202	1
SP	T	exact	endometrial stromal tumors	endometrial stromal tumors	D036821	Endometrial Stromal Tumors	D036821	Q15022	1
OMIM	no OMIM					Endometrial Stromal Tumors	D036821	Q15022	1
SP	T	4.228	form of b-cell leukemia	b-cell leukemias	D015448	B-Cell Leukemia	D015448	Q16633	1
OMIM	no OMIM					B-Cell Leukemia	D015448	Q16633	1
SP	T	-4.7981	ataxia-oculomotor apraxia 1	apraxia	D001072	Early Onset Cerebellar Ataxia | Peripheral Neuropathies | Apraxia, Motor | Hypoalbuminemia	D013132 D010523 D001072 D034141	Q7Z2E3	1
OMIM	T	4.4515	cerebellar ataxia, early-onset, with hypoalbuminemia	cerebellar ataxia, early onset	D013132	Early Onset Cerebellar Ataxia | Peripheral Neuropathies | Apraxia, Motor | Hypoalbuminemia	D013132 D010523 D001072 D034141	Q7Z2E3	1
SP	T	-5.0948	female-specific osteoarthritis susceptibility	osteoarthritis	D010003	Genetic Predisposition to Disease | Osteoarthritis	D020022 D010003	Q92765	1
OMIM	T	exact	osteoarthritis	osteoarthritis	D010003	Genetic Predisposition to Disease | Osteoarthritis	D020022 D010003	Q92765	1
SP	F	-5.223	omenn syndrome	syndromes	D013577	Severe Combined Immunodeficiency	D016511	Q96SD1	4
OMIM	T	3.4379	severe combined immunodeficiency with hypereosinophilia	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	Q96SD1	4
SP	T	exact	zellweger syndrome	zellweger syndrome	D015211	Zellweger Syndrome	D015211	Q99424	1
OMIM	no OMIM					Zellweger Syndrome	D015211	Q99424	1
SP	T	exact	breast cancer	breast cancer	D001943	Breast Cancer	D001943	Q9H6U6	1
OMIM	no OMIM					Breast Cancer	D001943	Q9H6U6	1
SP	F	-7.6241	walker-warburg syndrome	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Muscular Dystrophy | Brain Diseases | Retinal Dysplasia	D030342 D000015 D009136 D001927 D015792	Q9H9S5	4
OMIM	T	-2.2899	hydrocephalus, agyria, and retinal dysplasia	retinal dysplasia	D015792	Genetic Disease, Inborn | Abnormalities, Multiple | Muscular Dystrophy | Brain Diseases | Retinal Dysplasia	D030342 D000015 D009136 D001927 D015792	Q9H9S5	4
SP	T	-2.2617	azoospermia or oligospermia	oligospermia	D009845	Azoospermia | Oligospermia	D053713 D009845	Q9NQZ3	1
OMIM	no OMIM					Azoospermia | Oligospermia	D053713 D009845	Q9NQZ3	1
SP	T	exact	chronic neutrophilic leukemia	chronic neutrophilic leukemia	D015467	Chronic Neutrophilic Leukemia	D015467	Q9NVA2	1
OMIM	no OMIM					Chronic Neutrophilic Leukemia	D015467	Q9NVA2	1
SP	F	-3.2089	nonaka myopathy	myopathy	D009135	Distal Myopathy	D049310	Q9Y223	3
OMIM	T	1.4836	nonaka distal myopathy	myopathies, distal	D049310	Distal Myopathy	D049310	Q9Y223	3
SP	F	-6.139	lacticacidemia	acidosis, lactic	D000140	Pyruvate Dehydrogenase Complex Deficiency Disease	D015325	O00330	1
OMIM	T	-3.8486	pyruvate dehydrogenase e3-binding protein deficiency	pyruvate dehydrogenase complex deficiency disease	D015325	Pyruvate Dehydrogenase Complex Deficiency Disease	D015325	O00330	1
SP	T	-4.5341	variety of human tumors	tumors	D009369	Neoplasms	D009369	P01112	2
OMIM	no OMIM					Neoplasms	D009369	P01112	2
SP	F	-5.4305	kniest syndrome	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Osteochondrodysplasia | Dwarfism | Craniofacial Abnormalities	D030342 D000015 D010009 D004392 D019465	P02458	5
OMIM	T	-5.1473	metatropic dwarfism, type ii	dwarfism	D004392	Genetic Disease, Inborn | Abnormalities, Multiple | Osteochondrodysplasia | Dwarfism | Craniofacial Abnormalities	D030342 D000015 D010009 D004392 D019465	P02458	5
SP	T	-3.1863	osteoarthritis with mild chondrodysplasia	osteoarthritis	D010003	Genetic Disease, Inborn | Osteochondrodysplasia | Osteoarthritis	D030342 D010009 D010003	P02458	7
OMIM	T	-3.1863	osteoarthritis with mild chondrodysplasia	osteoarthritis	D010003	Genetic Disease, Inborn | Osteochondrodysplasia | Osteoarthritis	D030342 D010009 D010003	P02458	7
SP	T	-5.5957	coppock-like cataract	cataract	D002386	Genetic Disease, Inborn | Cataract	D030342 D002386	P07315	2
OMIM	T	-5.2227	cataract, embryonic nuclear	cataract	D002386	Genetic Disease, Inborn | Cataract	D030342 D002386	P07315	2
SP	T	-5.319	autosomal recessive severe combined immunodeficiency t-cell-negative/b-cell- positive/nk cell-positive	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	P08575	1
OMIM	T	-5.319	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	immunodeficiencies, severe combined	D016511	Severe Combined Immunodeficiency	D016511	P08575	1
SP	F	-8.3797	trismus- pseudocamptodactyly syndrome	syndromes	D013577	Abnormalities, Multiple | Arthrogryposis	D000015 D001176	P13535	2
OMIM	T	-3.9776	arthrogryposis, distal, type 7	arthrogryposis	D001176	Abnormalities, Multiple | Arthrogryposis	D000015 D001176	P13535	2
SP	T	-4.79	posterior polymorphous corneal dystrophy 2	hereditary corneal dystrophies	D003317	Corneal Dystrophy, Hereditary	D003317	P25067	3
OMIM	T	-4.79	corneal dystrophy, posterior polymorphous, 2	hereditary corneal dystrophies	D003317	Corneal Dystrophy, Hereditary	D003317	P25067	3
SP	T	-5.269	familial hyperinsulinemic hypoglycemia type 3	hypoglycemia	D007003	Metabolism, Inborn Errors | Hyperinsulinism | Hypoglycemia	D008661 D006946 D007003	P35557	2
OMIM	T	-4.8927	hyperinsulinemic hypoglycemia, familial, 3	hypoglycemia	D007003	Metabolism, Inborn Errors | Hyperinsulinism | Hypoglycemia	D008661 D006946 D007003	P35557	2
SP	T	-3.8688	alternating hemiplegia of childhood	hemiplegia	D006429	Genetic Disease, Inborn | Hemiplegia, Infantile	D030342 D006429	P50993	2
OMIM	T	-3.8688	alternating hemiplegia of childhood	hemiplegia	D006429	Genetic Disease, Inborn | Hemiplegia, Infantile	D030342 D006429	P50993	2
SP	T	-2.9542	the uterine cervix and in psoriasis vulgaris	cancer of the uterine cervix	D002583	Psoriasis | Uterine Cervical Diseases | Uterine Cervical Neoplasms	D011565 D002577 D002583	Q04695	3
OMIM	no OMIM					Psoriasis | Uterine Cervical Diseases | Uterine Cervical Neoplasms	D011565 D002577 D002583	Q04695	3
SP	F	-8.77	peroxisome biogenesis disorder complementation group 4	t-group	D012681	Peroxisomal Disorder	D018901	Q13608	1
OMIM	T	-7.628	peroxisomal assembly factor 2	peroxisomal disorder	D018901	Peroxisomal Disorder	D018901	Q13608	1
SP	F	-9.4008	triphalangeal thumb- polysyndactyly syndrome	syndromes	D013577	Limb Deformities, Congenital | Genetic Disease, Inborn | Polydactyly | Syndactyly	D017880 D030342 D017689 D013576	Q15465	4
OMIM	T	-4.0164	triphalangeal thumb with polysyndactyly	polysyndactyly	D013576	Limb Deformities, Congenital | Genetic Disease, Inborn | Polydactyly | Syndactyly	D017880 D030342 D017689 D013576	Q15465	4
SP	F	-9.7325	amme complex	wagr complex	D017624	Genetic Disease, X-Linked | Abnormalities, Multiple | Nephritis, Hereditary | Elliptocytosis, Hereditary | Craniofacial Abnormalities | Mental Retardation, X-Linked	D040181 D000015 D009394 D004612 D019465 D038901	Q9Y4X0	1
OMIM	T	-5.5813	alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	alport syndromes	D009394	Genetic Disease, X-Linked | Abnormalities, Multiple | Nephritis, Hereditary | Elliptocytosis, Hereditary | Craniofacial Abnormalities | Mental Retardation, X-Linked	D040181 D000015 D009394 D004612 D019465 D038901	Q9Y4X0	1
SP	F	-7.9264	peeling skin syndrome acral type	skin diseases	D012871	Skin Disease, Genetic | Skin Abnormalities | Skin Disease, Vesiculobullous	D012873 D012868 D012872	O43548	1
OMIM	F	-7.9264	peeling skin syndrome, acral type	skin diseases	D012871	Skin Disease, Genetic | Skin Abnormalities | Skin Disease, Vesiculobullous	D012873 D012868 D012872	O43548	1
SP	F	-5.4305	costello syndrome	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Craniofacial Abnormalities | Skin Abnormalities | Heart Defects, Congenital	D030342 D000015 D019465 D012868 D006330	P01112	1
OMIM	F	-5.4305	costello syndrome	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Craniofacial Abnormalities | Skin Abnormalities | Heart Defects, Congenital	D030342 D000015 D019465 D012868 D006330	P01112	1
SP	F	-7.412	variety of chondrodysplasia including hypochondrogenesis and osteoarthritis	osteoarthritis	D010003	Osteochondrodysplasia	D010009	P02458	1
OMIM	no OMIM					Osteochondrodysplasia	D010009	P02458	1
SP	F	-9.5244	strudwick type spondyloepimetaphyseal dysplasia	bone dysplasia	D001848	Genetic Disease, Inborn | Abnormalities, Multiple | Osteochondrodysplasia | Dwarfism	D030342 D000015 D010009 D004392	P02458	3
OMIM	F	-4.9305	strudwick syndrome	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Osteochondrodysplasia | Dwarfism	D030342 D000015 D010009 D004392	P02458	3
SP	F	-9.1653	achondrogenesis hypochondrogenesis type 2	2, neurofibromatosis type	D016518	Genetic Disease, Inborn | Osteochondrodysplasia | Dwarfism | Craniofacial Abnormalities	D030342 D010009 D004392 D019465	P02458	4
OMIM	F	-6.656	achondrogenesis, type ii	type ii, neurofibromatosis	D016518	Genetic Disease, Inborn | Osteochondrodysplasia | Dwarfism | Craniofacial Abnormalities	D030342 D010009 D004392 D019465	P02458	4
SP	F	-8.6837	spondyloperipheral dysplasia	bone dysplasia	D001848	Genetic Disease, Inborn | Abnormalities, Multiple | Spondyloepiphyseal Dysplasia | Sensorineural Hearing Loss | Dwarfism | Craniofacial Abnormalities	D030342 D000015 D010009 D006319 D004392 D019465	P02458	10
OMIM	F	-8.0854	spondyloperipheral dysplasia with short ulna	fracture, ulna	D014458	Genetic Disease, Inborn | Abnormalities, Multiple | Spondyloepiphyseal Dysplasia | Sensorineural Hearing Loss | Dwarfism | Craniofacial Abnormalities	D030342 D000015 D010009 D006319 D004392 D019465	P02458	10
SP	F	-3.9683	wagner syndrome type ii	usher syndrome, type ii	D052245	Eye Disease, Hereditary	D015785	P02458	11
OMIM	no OMIM					Eye Disease, Hereditary	D015785	P02458	11
SP	F	-5.7579	stickler syndrome type 1	syndromes	D013577	Genetic Disease, Inborn | Abnormalities, Multiple | Eye Disease, Hereditary | Bone Diseases | Sensorineural Hearing Loss | Craniofacial Abnormalities	D030342 D000015 D015785 D001847 D006319 D019465	P02458	12
OMIM	F	-3.4339	stickler syndrome, type i	usher syndrome, type i	D052245	Genetic Disease, Inborn | Abnormalities, Multiple | Eye Disease, Hereditary | Bone Diseases | Sensorineural Hearing Loss | Craniofacial Abnormalities	D030342 D000015 D015785 D001847 D006319 D019465	P02458	12
SP	F	-3.7086	acid phosphatase deficiency	acid deficiency, folic	D005494	Lysosomal Storage Disease	D016464	P11117	1
OMIM	F	-3.7086	acid phosphatase deficiency	acid deficiency, folic	D005494	Lysosomal Storage Disease	D016464	P11117	1
SP	F	-8.6929	carney complex variant	migraine variants	D008881	Neoplastic Syndromes, Hereditary | Abnormalities, Multiple	D009386 D000015	P13535	1
OMIM	F	-8.6929	carney complex variant	migraine variants	D008881	Neoplastic Syndromes, Hereditary | Abnormalities, Multiple	D009386 D000015	P13535	1
SP	F	-8.1507	dowling-degos disease	diseases	D004194	Skin Disease, Genetic | Hyperpigmentation	D012873 D017495	P13647	7
OMIM	F	-8.1507	dowling-degos disease	diseases	D004194	Skin Disease, Genetic | Hyperpigmentation	D012873 D017495	P13647	7
SP	F	-9.3543	muscle-specific enolase- beta deficiency	deficiency diseases	D003677	Glycogen Storage Disease | Myopathy	D006008 D009135	P13929	1
OMIM	F	-7.7061	enolase 3 deficiency	antithrombin 3 deficiency	D020152	Glycogen Storage Disease | Myopathy	D006008 D009135	P13929	1
SP	F	-8.0911	periventricular nodular heterotopia 1	nodular lymphomas	D008224	Genetic Disease, X-Linked | Nervous System Malformation	D040181 D009421	P21333	1
OMIM	F	-5.2688	heterotopia, periventricular, x-linked dominant	hypophosphatemic rickets, x linked dominant	D053098	Genetic Disease, X-Linked | Nervous System Malformation	D040181 D009421	P21333	1
SP	F	-8.5683	periventricular nodular heterotopia 4	nodular lymphomas	D008224	Genetic Disease, X-Linked | Abnormalities, Multiple | Nervous System Malformation | Joint Hypermobility	D040181 D000015 D009421 D007593	P21333	2
OMIM	F	-3.7967	heterotopia, periventricular, ehlers-danlos variant	syndrome, ehlers-danlos	D004535	Genetic Disease, X-Linked | Abnormalities, Multiple | Nervous System Malformation | Joint Hypermobility	D040181 D000015 D009421 D007593	P21333	2
SP	F	-8.6973	otopalatodigital syndrome type 1	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	3
OMIM	F	-6.6228	opd syndrome, type 1	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	3
SP	F	-8.7501	otopalatodigital syndrome type 2	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	4
OMIM	F	-5.723	cranioorodigital syndrome	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	4
SP	F	-8.4762	frontometaphyseal dysplasia	bone dysplasia	D001848	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	5
OMIM	F	-8.4762	frontometaphyseal dysplasia	bone dysplasia	D001848	Genetic Disease, X-Linked | Abnormalities, Multiple | Osteochondrodysplasia | Craniofacial Abnormalities	D040181 D000015 D010009 D019465	P21333	5
SP	F	-5.4305	cerebrofrontofacial syndrome	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Nervous System Malformation | Craniofacial Abnormalities	D040181 D000015 D009421 D019465	P21333	7
OMIM	F	-5.4305	cerebrofrontofacial syndrome	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Nervous System Malformation | Craniofacial Abnormalities	D040181 D000015 D009421 D019465	P21333	7
SP	F	-6.9626	craniofacial-deafness- hand syndrome	syndromes	D013577	Abnormalities, Multiple | Craniofacial Abnormalities | Sensorineural Hearing Loss	D000015 D019465 D006319	P23760	3
OMIM	F	-6.9626	craniofacial-deafness-hand syndrome	syndromes	D013577	Abnormalities, Multiple | Craniofacial Abnormalities | Sensorineural Hearing Loss	D000015 D019465 D006319	P23760	3
SP	F	-6.7679	characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormon hypersecretion	syndrome, polycystic ovary	D011085	Insulin Resistance | Pituitary LH Hypersecretion	D007333 D006964	P26439	2
OMIM	no OMIM					Insulin Resistance | Pituitary LH Hypersecretion	D007333 D006964	P26439	2
SP	F	-6.9894	hyperprolinemia type ii	type ii, neurofibromatosis	D016518	Amino Acid Metabolism, Inborn Error	D000592	P30038	1
OMIM	F	-6.9894	hyperprolinemia, type ii	type ii, neurofibromatosis	D016518	Amino Acid Metabolism, Inborn Error	D000592	P30038	1
SP	F	-4.2149	certain cardiovascular and musculo-skeletal abnormalities observed in williams-beuren syndrome	syndrome, williams-beuren	D018980	Musculoskeletal Abnormalities | Cardiovascular Abnormalities	D009139 D018376	P35250	1
OMIM	no OMIM					Musculoskeletal Abnormalities | Cardiovascular Abnormalities	D009139 D018376	P35250	1
SP	F	-4.6331	autosomal dominant weill-marchesani syndrome	alport syndrome, autosomal dominant	D009394	Abnormalities, Multiple | Connective Tissue Disease | Bone Disease, Developmental | Eye Disease, Hereditary	D000015 D003240 D001848 D015785	P35555	3
OMIM	F	-4.6331	weill-marchesani syndrome, autosomal dominant	alport syndrome, autosomal dominant	D009394	Abnormalities, Multiple | Connective Tissue Disease | Bone Disease, Developmental | Eye Disease, Hereditary	D000015 D003240 D001848 D015785	P35555	3
SP	F	-3.8203	hereditary mixed polyposis syndrome 2	familial polyposis syndrome	D011125	Intestinal Polyposis | Neoplastic Syndrome, Hereditary | Colonic Neoplasms	D044483 D009386 D003110	P36894	3
OMIM	F	-3.8203	polyposis syndrome, hereditary mixed, 2	familial polyposis syndrome	D011125	Intestinal Polyposis | Neoplastic Syndrome, Hereditary | Colonic Neoplasms	D044483 D009386 D003110	P36894	3
SP	F	-8.2603	long-chain 3-hydroxyl- coa dehydrogenase deficiency	deficiencies, glucosephosphate dehydrogenase	D005955	Lipid Metabolism, Inborn Error | Mitochondrial Disease	D008052 D028361	P40939	2
OMIM	F	-7.5206	lchad deficiency	deficiency diseases	D003677	Lipid Metabolism, Inborn Error | Mitochondrial Disease	D008052 D028361	P40939	2
SP	F	-4.8884	short qt syndrome type 2	bowel syndromes, short	D012778	Genetic Disease, Inborn | Arrhythmia	D030342 D001145	P51787	4
OMIM	F	-4.4169	short qt syndrome 2	bowel syndromes, short	D012778	Genetic Disease, Inborn | Arrhythmia	D030342 D001145	P51787	4
SP	F	-5.672	norrie disease	diseases	D004194	Genetic Disease, X-Linked | Eye Disease, Hereditary | Retinal Dysplasia	D040181 D015785 D015792	Q00604	1
OMIM	F	-3.8874	episkopi blindness	blindness	D001766	Genetic Disease, X-Linked | Eye Disease, Hereditary | Retinal Dysplasia	D040181 D015785 D015792	Q00604	1
SP	F	-6.0099	x-linked familial exudative vitreoretinopathy	ichthyosis, x-linked	D016114	Genetic Disease, X-Linked | Eye Disease, Hereditary | Retinal Dysplasia	D040181 D015785 D015792	Q00604	2
OMIM	F	-2.8909	fevr, x-linked	ichthyosis, x-linked	D016114	Genetic Disease, X-Linked | Eye Disease, Hereditary | Retinal Dysplasia	D040181 D015785 D015792	Q00604	2
SP	F	-8.8007	axenfeld-rieger syndrome	syndromes	D013577	Abnormalities, Multiple | Eye Disease, Hereditary | Glaucoma, Angle-Closure | Eye Abnormalities | Craniofacial Abnormalities	D000015 D015785 D015812 D005124 D019465	Q12948	1
OMIM	no OMIM					Abnormalities, Multiple | Eye Disease, Hereditary | Glaucoma, Angle-Closure | Eye Abnormalities | Craniofacial Abnormalities	D000015 D015785 D015812 D005124 D019465	Q12948	1
SP	F	-8.7841	iridogoniodysgenesis anomaly	anomalies, pupillary	D011681	Abnormalities, Multiple | Eye Disease, Hereditary | Glaucoma, Angle-Closure | Eye Abnormalities	D000015 D015785 D015812 D005124	Q12948	2
OMIM	F	-5.0515	glaucoma iridogoniodysplasia, familial	glaucoma	D005901	Abnormalities, Multiple | Eye Disease, Hereditary | Glaucoma, Angle-Closure | Eye Abnormalities	D000015 D015785 D015812 D005124	Q12948	2
SP	F	-8.3804	peters anomaly	anomalies, pupillary	D011681	Eye Disease, Hereditary | Eye Abnormalities	D015785 D005124	Q12948	3
OMIM	F	-8.3804	peters anomaly	anomalies, pupillary	D011681	Eye Disease, Hereditary | Eye Abnormalities	D015785 D005124	Q12948	3
SP	F	-4.16	autosomal dominant filaminopathy	dominant parkinsonism, autosomal	D020734	Muscular Dystrophy	D009136	Q14315	1
OMIM	F	-4.16	filaminopathy, autosomal dominant	dominant parkinsonism, autosomal	D020734	Muscular Dystrophy	D009136	Q14315	1
SP	F	-8.9993	solitary median maxillary central incisor	disease, maxillary	D008439	Tooth Abnormality	D014071	Q15465	3
OMIM	F	-5.223	smmci syndrome	syndromes	D013577	Tooth Abnormality	D014071	Q15465	3
SP	F	-4.717	multiple exostoses observed in langer-giedon syndrome	multiple exostoses	D005097	Exostoses	D005096	Q16394	2
OMIM	no OMIM					Exostoses	D005096	Q16394	2
SP	F	-10.845	bietti crystalline corneoretinal dystrophy	diseases, retinal	D012164	Eye Disease, Hereditary | Retinal Degeneration | Corneal Dystrophy, Hereditary	D015785 D012162 D003317	Q6ZWL3	1
OMIM	F	-4.4198	bietti tapetoretinal degeneration with marginal corneal dystrophy	degeneration, tapetoretinal	D012174	Eye Disease, Hereditary | Retinal Degeneration | Corneal Dystrophy, Hereditary	D015785 D012162 D003317	Q6ZWL3	1
SP	F	-9.7806	coenzyme q10 deficiency	deficiency diseases	D003677	Abnormalities, Multiple | Brain Diseases, Metabolic, Inborn | Cerebellar Ataxia	D000015 D020739 D002524	Q7Z2E3	2
OMIM	F	-8.8041	coq10 deficiency, primary	deficiency diseases	D003677	Abnormalities, Multiple | Brain Diseases, Metabolic, Inborn | Cerebellar Ataxia	D000015 D020739 D002524	Q7Z2E3	2
SP	F	-7.7281	icos deficiency	deficiency diseases	D003677	Common Variable Immunodeficiency	D017074	Q9Y6W8	1
OMIM	F	-7.7281	icos deficiency	deficiency diseases	D003677	Common Variable Immunodeficiency	D017074	Q9Y6W8	1
SP	F	-2.3535	distal myopathy with anterior tibial onset	anterior tibial syndromes	D000868	Distal Muscular Dystrophy	D049310	O75923	3
OMIM	F	-2.3535	myopathy, distal, with anterior tibial onset	anterior tibial syndromes	D000868	Distal Muscular Dystrophy	D049310	O75923	3
SP	F	-10.055	platyspondylic lethal skeletal dysplasia torrance type	lethal catatonia	D002389	Genetic Disease, Inborn | Osteochondrodysplasia | Dwarfism	D030342 D010009 D004392	P02458	8
OMIM	F	-1.0708	thanatophoric dysplasia, torrance variant	dysplasia, thanatophoric	D013796	Genetic Disease, Inborn | Osteochondrodysplasia | Dwarfism	D030342 D010009 D004392	P02458	8
SP	F	-0.3982	cryptogenic cirrhosis	cirrhosis	D005355	Liver Cirrhosis	D008103	P05783	1
OMIM	F	1.8468	cirrhosis, familial	cirrhosis	D005355	Liver Cirrhosis	D008103	P05783	1
SP	F	-0.3982	cryptogenic cirrhosis	cirrhosis	D005355	Liver Cirrhosis	D008103	P05787	1
OMIM	F	1.8468	cirrhosis, familial	cirrhosis	D005355	Liver Cirrhosis	D008103	P05787	1
SP	T	-6.3083	gelatinous drop-like corneal dystrophy	hereditary corneal dystrophies	D003317	Corneal Dystrophy, Hereditary	D003317	P09758	1
OMIM	F	0.5231	amyloidosis, corneal	amyloidoses	D000686	Corneal Dystrophy, Hereditary	D003317	P09758	1
SP	F	-2.1702	stem cell leukemia lymphoma syndrome	adult t-cell leukemia-lymphoma	D015460	Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	P11362	6
OMIM	no OMIM					Neoplastic Syndrome, Hereditary | Lymphoma, Lymphoblastic | Myeloproliferative Disorder | Eosinophilia	D009386 D016401 D009196 D004802	P11362	6
SP	T	0.3964	epidermolysis bullosa simplex weber-cockayne type	epidermolysis bullosa simplex	D016110	Weber-Cockayne Syndrome	D016110	P13647	4
OMIM	F	exact	epidermolysis bullosa dystrophica, cockayne-touraine type	epidermolysis bullosa dystrophica, cockayne-touraine type	D016108	Weber-Cockayne Syndrome	D016110	P13647	4
SP	F	-1.9877	hematopoietic tumors such as b-cell lymphomas	lymphoma, b cell	D016393	Hematologic Neoplasms	D019337	P26196	1
OMIM	no OMIM					Hematologic Neoplasms	D019337	P26196	1
SP	T	-6.2552	shprintzen-goldberg craniosynostosis syndrome	craniosynostoses	D003398	Abnormalities, Multiple | Connective Tissue Disease | Bone Disease, Developmental | Craniosynostosis | Heart Defects, Congenital | Eye Disease, Hereditary	D000015 D003240 D001848 D003398 D006330 D015785	P35555	4
OMIM	F	-1.0442	craniosynostosis with arachnodactyly and abdominal hernias	abdominal hernias	D046449	Abnormalities, Multiple | Connective Tissue Disease | Bone Disease, Developmental | Craniosynostosis | Heart Defects, Congenital | Eye Disease, Hereditary	D000015 D003240 D001848 D003398 D006330 D015785	P35555	4
SP	T	-0.974	maturity onset diabetes of the young type 2	maturity onset diabetes mellitus	D003924	Genetic Disease, Inborn | Maturity-Onset Diabetes Mellitus	D030342 D003924	P35557	1
OMIM	F	exact	diabetes, gestational	diabetes, gestational	D016640	Genetic Disease, Inborn | Maturity-Onset Diabetes Mellitus	D030342 D003924	P35557	1
SP	F	0.0504	trifunctional protein deficiency	protein deficiency	D011488	Lipid Metabolism, Inborn Error | Mitochondrial Disease	D008052 D028361	P40939	1
OMIM	F	0.0504	trifunctional protein deficiency	protein deficiency	D011488	Lipid Metabolism, Inborn Error | Mitochondrial Disease	D008052 D028361	P40939	1
SP	F	-8.8076	microphthalmia syndromic type 3	type 3 gaucher disease	D005776	Anophthalmia | Microphthalmos	D000853 D008850	P48431	1
OMIM	F	1.37	microphthalmia and esophageal atresia syndrome	esophageal atresia	D004933	Anophthalmia | Microphthalmos	D000853 D008850	P48431	1
SP	F	-5.8108	leukoencephalopathy with vanishing white matter	spongy disease of white matter	D017825	Hereditary Central Nervous System Demyelinating Diseases	D020279	P49770	1
OMIM	F	-2.2785	childhood ataxia with central nervous system hypomyelinization	central nervous system diseases	D002493	Hereditary Central Nervous System Demyelinating Diseases	D020279	P49770	1
SP	no result		ovarioleukodystrophy			Hereditary Central Nervous System Demyelinating Diseases | Ovarian Failure, Premature	D020279 D016649	P49770	2
OMIM	F	-2.2785	childhood ataxia with central nervous system hypomyelinization	central nervous system diseases	D002493	Hereditary Central Nervous System Demyelinating Diseases | Ovarian Failure, Premature	D020279 D016649	P49770	2
SP	F	2.5812	bleeding disorder	bleeding	D006470	Genetic Disease, Inborn | Hemorrhagic Disorder	D030342 D006474	P51575	1
OMIM	F	-5.5163	bleeding disorder due to p2rx1 defect	bleeding	D006470	Genetic Disease, Inborn | Hemorrhagic Disorder	D030342 D006474	P51575	1
SP	F	-9.2414	aarskog-scott syndrome	syndromes	D013577	Genetic Disease, X-Linked | Abnormalities, Multiple | Craniofacial Abnormalities | Urogenital Abnormalities	D040181 D000015 D019465 D014564	P98174	1
OMIM	F	3.446	faciogenital dysplasia with attention deficit-hyperactivity disorder	attention deficit disorders with hyperactivity	D001289	Genetic Disease, X-Linked | Abnormalities, Multiple | Craniofacial Abnormalities | Urogenital Abnormalities	D040181 D000015 D019465 D014564	P98174	1
SP	F	-8.4762	gnathodiaphyseal dysplasia	bone dysplasia	D001848	Genetic Disease, Inborn | Osteochondrodysplasia	D030342 D010009	Q75V66	1
OMIM	F	-2.1352	osteogenesis imperfecta with unusual skeletal lesions	osteogenesis imperfecta	D010013	Genetic Disease, Inborn | Osteochondrodysplasia	D030342 D010009	Q75V66	1
SP	F	-2.0012	chromosome 22q13.3 deletion syndrome	chromosome deletions	D002872	Genetic Disease, Inborn | Abnormalities, Multiple	D030342 D000015	Q8NEU8	1
OMIM	F	-2.0012	chromosome 22q13.3 deletion syndrome	chromosome deletions	D002872	Genetic Disease, Inborn | Abnormalities, Multiple	D030342 D000015	Q8NEU8	1
SP	F	-0.7282	normal pressure glaucoma	hydrocephalus, normal pressure	D006850	Glaucoma | Genetic Predisposition to Disease	D005901 D020022	Q96CV9	2
OMIM	F	-3.024	glaucoma, normal pressure, susceptibility to	hydrocephalus, normal pressure	D006850	Glaucoma | Genetic Predisposition to Disease	D005901 D020022	Q96CV9	2
SP	F	-0.5309	muscle-eye-brain disease	muscle-liver-brain-eye nanism	D050336	Genetic Disease, Inborn | Abnormalities, Multiple | Muscular Dystrophy | Eye Diseases | Nervous System Diseases	D030342 D000015 D009136 D005128 D009422	Q9H9S5	3
OMIM	F	-0.5309	muscle-eye-brain disease	muscle-liver-brain-eye nanism	D050336	Genetic Disease, Inborn | Abnormalities, Multiple | Muscular Dystrophy | Eye Diseases | Nervous System Diseases	D030342 D000015 D009136 D005128 D009422	Q9H9S5	3
SP	F	0.8696	inclusion body myopathy type 2	myopathy, inclusion body, sporadic	D018979	Myopathy	D009135	Q9Y223	2
OMIM	F	0.7779	inclusion body myopathy, autosomal recessive	myopathy, inclusion body, sporadic	D018979	Myopathy	D009135	Q9Y223	2