The Human Disease Network Goh KI, Cusick ME

The diseasome poster and online framework is based on «The Human Disease Network»1 dataset. From original data, several compable GEXF graph file have been created. Graphs layouts and rendering have been performed by Gephi network visualizaon soware. Isolated disorders are not shown and only the giant component is
displayed on the poster. For further informaon about original authors or the Center for Cancer Systems Biology please consult hp://ccsb.dfci.harvard.edu. This poster is released under Creave Commons 3.0 by-nc-nd United States. Please visit hp://creavecommons.org/licenses/by-nc-nd/3.0/us.
1 hp://www.barabasilab.com/pubs/CCNR-ALB_Publicaons/200705-14_PNAS-HumanDisease/Suppl/index.htm
Explore online at
http://gephi.org/diseasome
Diseasome
The Human Disease
Network
POSTER
Cancer
Endocrine
Ear, Nose, Throat
Ophthamological
Neurological
Hematological
Cardiovascular
Muscular
Immunological
Nutrional
Connecve ssue disorder
Renal
Psychiatric
Dermatological
Mulple
Unclassified
Metabolic
Bone
Skeletal
Gastrointesnal
Developmental
Respiratory
Cancer
Endocrine
Ear, Nose, Throat
Ophthamological
Neurological
Hematological
Cardiovascular
Muscular
Immunological
Nutrional
Connecve ssue disorder
Renal
Psychiatric
Dermatological
Mulple
Unclassified
Metabolic
Bone
Skeletal
Gastrointesnal
Developmental
Respiratory
Cancer Endocrine Ear, Nose, Throat Ophthamological Neurological Hematological Cardiovascular Muscular Immunological
Nutrional Connecve ssue disorder Renal Psychiatric Dermatological Mulple Unclassified
Metabolic Bone Skeletal Gastrointesnal Developmental Respiratory
Disorder Class Interactions
Disorder Class
Top 5 Disease Top 5 Gene
Statistics
Abstract
1 10 5030
# Connected Diseases
# Common genes
5 1
Edges stroke shows the number
of common genes between two
diseases or disorders.
1. TP53
2. PAX6
3. FGFR2
4. RTEN
5. MSH2
1. Deafness
2. Leukemia
3. Colon Cancer
4. Renis Pigmentosa
5. Diabetes Mellitus
# of Nodes:
# of Edges:
Density:
Average Degree:
Diameter:
Average Shortest Path:
516
1188
0,0089
9,20
15
6,5
A network of disorders and disease genes linked by known
disorder–gene associaons, indicang the common genec
origin of many diseases. Genes associated with similar
disorders show both higher likelihood of physical
interacons between their products and higher expression
profiling similarity for their transcripts, supporng the
existence of disnct disease-specific funconal modules.
The Human Disease Network
Goh K-I, Cusick ME, Valle D, Childs B, Vidal M, Barabási A-L (2007)
Proc Natl Acad Sci USA 104:8685-8690
This work has been done by Mathieu Basan and Sebasen
Heymann from the Gephi team, with the priceless collaboraon of
Alexis Jacomy, Franck Ghitalla and Magali Roux. We thank the
RTGI/Linkfluence team for their tools and essenal support. This
study is published with the agreement of Marc Vidal. The aim is to
promote our tools and biological network exploraon, in France in
the world.
To contact us, please use [email protected]g.
Sandho disease, infantile, juvenile, and adult forms
Sandho disease, infantile, juvenile, and adult forms
Rh-mod syndrome
Rh-mod syndrome
Hemolytic-uremic syndrome
Hemolytic-uremic syndrome
Non-Hodgkin lymphoma
Non-Hodgkin lymphoma
Leanness, inherited
Leanness, inherited
McCune-Albright syndrome
McCune-Albright syndrome
Achromatopsia
Achromatopsia
Thrombocytopenia
Thrombocytopenia
Osteoporosis-pseudoglioma syndrome
Osteoporosis-pseudoglioma syndrome
Placental abruption
Placental abruption
Androgen insensitivity
Androgen insensitivity
Anorexia nervosa
Anorexia nervosa
Hirschsprung disease
Hirschsprung disease
Ichthyosiform erythroderma
Ichthyosiform erythroderma
Persistent hyperinsulinemic hypoglycemia of infancy
Persistent hyperinsulinemic hypoglycemia of infancy
Retinitis pigmentosa
Retinitis pigmentosa
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia
Graft-versus-host disease
Graft-versus-host disease
Gardner syndrome
Gardner syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Muir-Torre syndrome
Muir-Torre syndrome
Myxoma, intracardiac
Myxoma, intracardiac
Myelodysplastic syndrome
Myelodysplastic syndrome
Loeys-Dietz syndrome
Loeys-Dietz syndrome
G6PD deficiency
G6PD deficiency
Silver spastic paraplegia syndrome
Silver spastic paraplegia syndrome
Desmoid disease, hereditary
Desmoid disease, hereditary
Solitary median maxillary central incisor
Solitary median maxillary central incisor
Listeria monocytogenes
Listeria monocytogenes
Amyloidosis
Amyloidosis
Hematopoiesis, cyclic
Hematopoiesis, cyclic
Tangier disease
Tangier disease
Rett syndrome
Rett syndrome
Weill-Marchesani syndrome
Weill-Marchesani syndrome
Atelosteogenesis
Atelosteogenesis
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
MODY
MODY
Histiocytoma
Histiocytoma
Nonsmall cell lung cancer
Nonsmall cell lung cancer
Achondrogenesis Ib
Achondrogenesis Ib
Cataract
Cataract
Graves disease
Graves disease
Asperger syndrome
Asperger syndrome
Vohwinkel syndrome
Vohwinkel syndrome
Hypocalcemia
Hypocalcemia
Cardiomyopathy
Cardiomyopathy
Myocardial infarction
Myocardial infarction
Foveal hypoplasia
Foveal hypoplasia
Oculodentodigital dysplasia
Oculodentodigital dysplasia
Waardenburg syndrome
Waardenburg syndrome
Rhabdomyosarcoma
Rhabdomyosarcoma
Hypercholesterolemia
Hypercholesterolemia
Acquired long QT syndrome
Acquired long QT syndrome
Deafness
Deafness
Thrombocythemia
Thrombocythemia
Adrenal adenoma
Adrenal adenoma
Pneumothorax, primary spontaneous
Pneumothorax, primary spontaneous
Capillary malformations
Capillary malformations
Netherton syndrome
Netherton syndrome
Dermatobrosarcoma protuberans
Dermatobrosarcoma protuberans
Spherocytosis
Spherocytosis
Muenke syndrome
Muenke syndrome
Hyperparathyroidism
Hyperparathyroidism
Optic atrophy
Optic atrophy
Holoprosencephaly
Holoprosencephaly
Alcohol dependence
Alcohol dependence
Paragangliomas
Paragangliomas
Costello syndrome
Costello syndrome
Pyruvate dehydrogenase deciency
Pyruvate dehydrogenase deciency
PPM-X syndrome
PPM-X syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome
MASS syndrome
MASS syndrome
Central core disease
Central core disease
Pyropoikilocytosis
Pyropoikilocytosis
Apolipoprotein deficiency
Apolipoprotein deficiency
Hyperprolinemia
Hyperprolinemia
Sea-blue histiocyte disease
Sea-blue histiocyte disease
Macrothrombocytopenia
Macrothrombocytopenia
Oligodontia-colorectal cancer syndrome
Oligodontia-colorectal cancer syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease
Hypodontia
Hypodontia
Urolithiasise
Urolithiasise
Noncompaction of left ventricular myocardium
Noncompaction of left ventricular myocardium
Severe combined immunodeciency
Severe combined immunodeciency
Hyperthyroidism
Hyperthyroidism
Thanatophoric dysplasia, types I and II
Thanatophoric dysplasia, types I and II
Morning glory disc anomaly
Morning glory disc anomaly
Enhanced S-cone syndrome
Enhanced S-cone syndrome
Occipital horn syndrome
Occipital horn syndrome
Alexander disease
Alexander disease
Mastocytosis with associated hematologic disorder
Mastocytosis with associated hematologic disorder
Ataxia-telangiectasia
Ataxia-telangiectasia
Beare-Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome
Apparent mineralocorticoid excess, hypertension due to
Apparent mineralocorticoid excess, hypertension due to
Cyclic ichthyosis with epidermolytic hyperkeratosis
Cyclic ichthyosis with epidermolytic hyperkeratosis
Blood group
Blood group
van Buchem disease
van Buchem disease
Aortic aneurysm
Aortic aneurysm
Nevus, epidermal, epidermolytic hyperkeratotic type
Nevus, epidermal, epidermolytic hyperkeratotic type
Elliptocytosis
Elliptocytosis
Anterior segment anomalies and cataract
Anterior segment anomalies and cataract
Renal tubular dysgenesis
Renal tubular dysgenesis
Crouzon syndrome
Crouzon syndrome
Supranuclear palsy
Supranuclear palsy
Stomach cancer
Stomach cancer
CPT deficiency, hepatic
CPT deficiency, hepatic
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia
Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Vitelliform macular dystrophy
Vitelliform macular dystrophy
Sezary syndrome
Sezary syndrome
Carpal tunnel syndrome, familial
Carpal tunnel syndrome, familial
Turcot syndrome
Turcot syndrome
Beta-2-adrenoreceptor agonist, reduced response to
Beta-2-adrenoreceptor agonist, reduced response to
Preeclampsia
Preeclampsia
Macular dystrophy
Macular dystrophy
Transient bullous of the newborn
Transient bullous of the newborn
Endometrial carcinoma
Endometrial carcinoma
Mesothelioma
Mesothelioma
Cowden disease
Cowden disease
Colon cancer
Colon cancer
Epstein syndrome
Epstein syndrome
Huntington disease
Huntington disease
Prostate cancer
Prostate cancer
Osteogenesis imperfecta
Osteogenesis imperfecta
Dentin dysplasia, type II
Dentin dysplasia, type II
Fundus albipunctatus
Fundus albipunctatus
Kallmann syndrome
Kallmann syndrome
Migraine
Migraine
PCWH
PCWH
Hypoceruloplasminemia
Hypoceruloplasminemia
Anxiety-related personality traits
Anxiety-related personality traits
Ovarian cancer
Ovarian cancer
Hystrix-like ichthyosis with deafness
Hystrix-like ichthyosis with deafness
Supravalvar aortic stenosis
Supravalvar aortic stenosis
Hypoglycemia
Hypoglycemia
Aquaporin-1 deficiency
Aquaporin-1 deficiency
Central hypoventilation syndrome
Central hypoventilation syndrome
Platelet defect/deficiency
Platelet defect/deficiency
Coats disease
Coats disease
Hemiplegic migraine, familial
Hemiplegic migraine, familial
Tietz syndrome
Tietz syndrome
Unna-Thost disease, nonepidermolytic
Unna-Thost disease, nonepidermolytic
Angelman syndrome
Angelman syndrome
Enlarged vestibular aqueduct
Enlarged vestibular aqueduct
Schwannomatosis
Schwannomatosis
Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
Lower motor neuron disease, progressive, without sensory symptoms
Lower motor neuron disease, progressive, without sensory symptoms
Aneurysm, familial arterial
Aneurysm, familial arterial
Subcortical laminar heterotopia
Subcortical laminar heterotopia
Coronary artery disease
Coronary artery disease
Vertical talus
Vertical talus
Adrenocortical carcinoma
Adrenocortical carcinoma
Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
Skin fragility-woolly hair syndrome
Skin fragility-woolly hair syndrome
Lynch cancer family syndrome II
Lynch cancer family syndrome II
Optic nerve hypoplasia/aplasia
Optic nerve hypoplasia/aplasia
Thyroid hormone resistance
Thyroid hormone resistance
Mental retardation
Mental retardation
Uterine leiomyoma
Uterine leiomyoma
Pick disease
Pick disease
Squamous cell carcinoma
Squamous cell carcinoma
Mesangial sclerosis
Mesangial sclerosis
Leprechaunism
Leprechaunism
Myelofibrosis, idiopathic
Myelofibrosis, idiopathic
Hyperproreninemia
Hyperproreninemia
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome
Infantile spasm syndrome
Infantile spasm syndrome
Paramyotonia congenita
Paramyotonia congenita
Lymphoma
Lymphoma
Coronary spasms
Coronary spasms
Spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome
Craniofacial-skeletal-dermatologic dysplasia
Craniofacial-skeletal-dermatologic dysplasia
Wilms tumor
Wilms tumor
Multiple endocrine neoplasia
Multiple endocrine neoplasia
Lhermitte-Duclos syndrome
Lhermitte-Duclos syndrome
T-cell lymphoblastic leukemia
T-cell lymphoblastic leukemia
Heart block
Heart block
Gastrointestinal stromal tumor
Gastrointestinal stromal tumor
Dystransthyretinemic hyperthyroxinemia
Dystransthyretinemic hyperthyroxinemia
Goiter
Goiter
Medullary thyroid carcinoma
Medullary thyroid carcinoma
Hemorrhagic diathesis
Hemorrhagic diathesis
Leprosy
Leprosy
Rh-negative blood type
Rh-negative blood type
Walker-Warburg syndrome
Walker-Warburg syndrome
Basal cell carcinoma
Basal cell carcinoma
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Somatotrophinoma
Somatotrophinoma
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
HDL cholesterol level QTL
HDL cholesterol level QTL
Insensitivity to pain
Insensitivity to pain
Sebastian syndrome
Sebastian syndrome
Cone dystrophy
Cone dystrophy
Growth hormone
Growth hormone
Denys-Drash syndrome
Denys-Drash syndrome
Nicotine addiction
Nicotine addiction
Lipoma
Lipoma
Rieger syndrome
Rieger syndrome
Keratosis palmoplantaria striata
Keratosis palmoplantaria striata
Oligodendroglioma
Oligodendroglioma
Atherosclerosis
Atherosclerosis
Keratitis-ichthyosis-deafness syndrome
Keratitis-ichthyosis-deafness syndrome
Neuroblastoma
Neuroblastoma
Nephropathy-hypertension
Nephropathy-hypertension
Fuchs endothelial corneal dystrophy
Fuchs endothelial corneal dystrophy
Hypertension
Hypertension
Hypercholanemia
Hypercholanemia
Autoimmune disease
Autoimmune disease
Myokymia with neonatal epilepsy
Myokymia with neonatal epilepsy
Allergic rhinitis
Allergic rhinitis
Osseous heteroplasia
Osseous heteroplasia
Esophageal cancer
Esophageal cancer
von Hippel-Lindau syndrome
von Hippel-Lindau syndrome
Giant-cell fibroblastoma
Giant-cell fibroblastoma
Pigmented paravenous chorioretinal atrophy
Pigmented paravenous chorioretinal atrophy
Incontinentia pigmenti
Incontinentia pigmenti
Myeloperoxidase deficiency
Myeloperoxidase deficiency
Cerebellar ataxia
Cerebellar ataxia
SARS, progression of
SARS, progression of
Intervertebral disc disease
Intervertebral disc disease
Obesity
Obesity
Carcinoid tumor of lung
Carcinoid tumor of lung
Ring dermoid of cornea
Ring dermoid of cornea
Menkes disease
Menkes disease
Corneal dystrophy
Corneal dystrophy
Rippling muscle disease
Rippling muscle disease
Hyperproinsulinemia
Hyperproinsulinemia
Coffin-Lowry syndrome
Coffin-Lowry syndrome
Iris hypoplasia and glaucoma
Iris hypoplasia and glaucoma
Memory impairment
Memory impairment
Carcinoid tumors, intestinal
Carcinoid tumors, intestinal
Roussy-Levy syndrome
Roussy-Levy syndrome
Adult i phenotype
Adult i phenotype
Williams-Beuren syndrome
Williams-Beuren syndrome
Dejerine-Sottas disease
Dejerine-Sottas disease
Butterfly dystrophy, retinal
Butterfly dystrophy, retinal
Diastrophic dysplasia
Diastrophic dysplasia
Leigh syndrome
Leigh syndrome
Melanoma
Melanoma
Episodic ataxia
Episodic ataxia
Stargardt disease
Stargardt disease
Rabson-Mendenhall syndrome
Rabson-Mendenhall syndrome
Epidermolysis bullosa
Epidermolysis bullosa
Hyperthroidism
Hyperthroidism
Lipodystrophy
Lipodystrophy
Polycythemia
Polycythemia
Angiofibroma, sporadic
Angiofibroma, sporadic
Pallidopontonigral degeneration
Pallidopontonigral degeneration
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis
Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
Favism
Favism
Hypothyroidism
Hypothyroidism
Neuroectodermal tumors
Neuroectodermal tumors
Malaria
Malaria
OSMED syndrome
OSMED syndrome
Tauopathy and respiratory failure
Tauopathy and respiratory failure
Dopamine beta-hydroxylase deciency
Dopamine beta-hydroxylase deciency
Dentinogenesis imperfecta, Shields type
Dentinogenesis imperfecta, Shields type
Renal tubular acidosis
Renal tubular acidosis
Hypertriglyceridemia
Hypertriglyceridemia
Jackson-Weiss syndrome
Jackson-Weiss syndrome
Apert syndrome
Apert syndrome
Combined immunodeficiency
Combined immunodeficiency
Syndactyly
Syndactyly
Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis
Mitochondrial complex deciency
Mitochondrial complex deciency
Papillary serous carcinoma of the peritoneum
Papillary serous carcinoma of the peritoneum
Renal cell carcinoma
Renal cell carcinoma
Osteosarcoma
Osteosarcoma
Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
Stroke
Stroke
Autoimmune thyroid disease
Autoimmune thyroid disease
Myopathy
Myopathy
Multiple sclerosis
Multiple sclerosis
Creatine deciency syndrome, X-linked
Creatine deciency syndrome, X-linked
Glioblastoma
Glioblastoma
Cancer susceptibility
Cancer susceptibility
Craniosynostosis
Craniosynostosis
Gastric cancer
Gastric cancer
Peters anomaly
Peters anomaly
Polyposis
Polyposis
Partington syndrome
Partington syndrome
Lung cancer
Lung cancer
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy
Larson syndrome
Larson syndrome
Macular degeneration
Macular degeneration
Myasthenic syndrome
Myasthenic syndrome
Parkinson disease
Parkinson disease
Pancreatic agenesis
Pancreatic agenesis
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
Prolactinoma, hyperparathyroidism, carcinoid syndrome
Prolactinoma, hyperparathyroidism, carcinoid syndrome
Myotonia congenita
Myotonia congenita
Neuropathy
Neuropathy
Obsessive-compulsive disorder
Obsessive-compulsive disorder
Fechtner syndrome
Fechtner syndrome
Retinal cone dsytrophy
Retinal cone dsytrophy
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Macrocytic anemia
Macrocytic anemia
Myotilinopathy
Myotilinopathy
Myoglobinuria/hemolysis due to PGK deciency
Myoglobinuria/hemolysis due to PGK deciency
Ichthyosis
Ichthyosis
Stickler syndrome
Stickler syndrome
Factor x deficiency
Factor x deficiency
Shah-Waardenburg syndrome
Shah-Waardenburg syndrome
Colonic aganglionosis, total, with small bowel involvement
Colonic aganglionosis, total, with small bowel involvement
Ataxia
Ataxia
Ectopia
Ectopia
Fanconi anemia
Fanconi anemia
Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome
Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Cafe-au-lait spots
Cafe-au-lait spots
Mast cell leukemia
Mast cell leukemia
Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility
Lissencephaly
Lissencephaly
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
Branchiootic syndrome
Branchiootic syndrome
Ventricular tachycardia
Ventricular tachycardia
Alzheimer disease
Alzheimer disease
Becker muscular dystrophy
Becker muscular dystrophy
HIV
HIV
Basal cell nevus syndrome
Basal cell nevus syndrome
Wagner syndrome
Wagner syndrome
Pseudohypoparathyroidism
Pseudohypoparathyroidism
Angiotensin I-converting enzyme
Angiotensin I-converting enzyme
Craniofacial anomalies, empty sella turcica, corneal endothelial changes
Craniofacial anomalies, empty sella turcica, corneal endothelial changes
Newfoundland rod-cone dystrophy
Newfoundland rod-cone dystrophy
Atopy
Atopy
Atrial fibrillation
Atrial fibrillation
Ventricular brillation, idiopathic
Ventricular brillation, idiopathic
Toenail dystrophy, isolated
Toenail dystrophy, isolated
Convulsions
Convulsions
Atrioventricular block
Atrioventricular block
Laryngoonychocutaneous syndrome
Laryngoonychocutaneous syndrome
Coumarin resistance
Coumarin resistance
Li-Fraumeni syndrome
Li-Fraumeni syndrome
Keratitis
Keratitis
Muscular dystrophy
Muscular dystrophy
3-methylglutaconicaciduria
3-methylglutaconicaciduria
Diabetes mellitus
Diabetes mellitus
Neurofibromatosis
Neurofibromatosis
Amyloid neuropathy
Amyloid neuropathy
Abetalipoproteinemia
Abetalipoproteinemia
Myoclonic epilepsy
Myoclonic epilepsy
Anemia
Anemia
Placental steroid sulfatase deciency
Placental steroid sulfatase deciency
Osteoporosis
Osteoporosis
Mohr-Tranebjaerg syndrome
Mohr-Tranebjaerg syndrome
Night blindness
Night blindness
Hypobetalipoproteinemia
Hypobetalipoproteinemia
Total iodide organication defect
Total iodide organication defect
Dyserythropoietic anemia
Dyserythropoietic anemia
Exudative vitreoretinopathy
Exudative vitreoretinopathy
Erythrokeratoderma
Erythrokeratoderma
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome
Sick sinus syndrome
Sick sinus syndrome
Hemosiderosis, systemic, due to aceruloplasminemia
Hemosiderosis, systemic, due to aceruloplasminemia
Norrie disease
Norrie disease
Craniofacial-deafness-hand syndrome
Craniofacial-deafness-hand syndrome
Keratoconus
Keratoconus
Germ cell tumor
Germ cell tumor
Parathyroid adenoma
Parathyroid adenoma
Prion disease with protracted course
Prion disease with protracted course
Seasonal affective disorder
Seasonal affective disorder
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome
Usher syndrome
Usher syndrome
Afibrinogenemia
Afibrinogenemia
Adrenal cortical carcinoma
Adrenal cortical carcinoma
Alagille syndrome
Alagille syndrome
Spinal muscular atrophy
Spinal muscular atrophy
Neurofibromatosis
Neurofibromatosis
Epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Dysfibrinogenemia
Dysfibrinogenemia
Complementary component deficiency
Complementary component deficiency
Bothnia retinal dystrophy
Bothnia retinal dystrophy
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
Wegener granulomatosis
Wegener granulomatosis
Schizophrenia
Schizophrenia
May-Hegglin anomaly
May-Hegglin anomaly
Hypofibrinogenemia
Hypofibrinogenemia
SMED Strudwick type
SMED Strudwick type
Perineal hypospadias
Perineal hypospadias
Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
GRACILE syndrome
GRACILE syndrome
Breast cancer
Breast cancer
Cramps, potassium-aggravated
Cramps, potassium-aggravated
Gerstmann-Straussler disease
Gerstmann-Straussler disease
Self-healing collodion baby
Self-healing collodion baby
Acromegaly
Acromegaly
Li Fraumeni syndrome
Li Fraumeni syndrome
Pendred syndrome
Pendred syndrome
ABCD syndrome
ABCD syndrome
Iridogoniodysgenesis
Iridogoniodysgenesis
Bone mineral density variability
Bone mineral density variability
Epiphyseal dysplasia
Epiphyseal dysplasia
Parietal foramina
Parietal foramina
Meningioma
Meningioma
Retinoblastoma
Retinoblastoma
Achondrogenesis-hypochondrogenesis, type II
Achondrogenesis-hypochondrogenesis, type II
Asthma
Asthma
Carney complex
Carney complex
Osteopetrosis
Osteopetrosis
Weissenbacher-Zweymuller syndrome
Weissenbacher-Zweymuller syndrome
Witkop syndrome
Witkop syndrome
Thrombophilia
Thrombophilia
Neurofibrosarcoma
Neurofibrosarcoma
Dilated cardiomyopathy with woolly hair and keratoderma
Dilated cardiomyopathy with woolly hair and keratoderma
Fanconi-Bickel syndrome
Fanconi-Bickel syndrome
Rheumatoid arthritis
Rheumatoid arthritis
Creatine phosphokinase
Creatine phosphokinase
Bart-Pumphrey syndrome
Bart-Pumphrey syndrome
Barth syndrome
Barth syndrome
Jensen syndrome
Jensen syndrome
Omenn syndrome
Omenn syndrome
Leukemia
Leukemia
Maple syrup urine disease
Maple syrup urine disease
IgE levels QTL
IgE levels QTL
Proud syndrome
Proud syndrome
Insulin resistance
Insulin resistance
Salivary adenoma
Salivary adenoma
Pseudoachondroplasia
Pseudoachondroplasia
Piebaldism
Piebaldism
Aniridia, type II
Aniridia, type II
Epilepsy
Epilepsy
Rubenstein-Taybi syndrome
Rubenstein-Taybi syndrome
Neurobromatosis-Noonan syndrome
Neurobromatosis-Noonan syndrome
Multiple malignancy syndrome
Multiple malignancy syndrome
Trismus-pseudocomptodactyly syndrome
Trismus-pseudocomptodactyly syndrome
Oligodontia
Oligodontia
Emphysema
Emphysema
Liddle syndrome
Liddle syndrome
Autism
Autism
Leopard syndrome
Leopard syndrome
Merkel cell carcinoma
Merkel cell carcinoma
Pseudohypoaldosteronism
Pseudohypoaldosteronism
Infundibular hypoplasia and hypopituitarism
Infundibular hypoplasia and hypopituitarism
Benzene toxicity
Benzene toxicity
Spinocereballar ataxia
Spinocereballar ataxia
Homocystinuria
Homocystinuria
Achondroplasia
Achondroplasia
Dementia
Dementia
Keratoderma, palmoplantar, with deafness
Keratoderma, palmoplantar, with deafness
Noonan syndrome
Noonan syndrome
Marfan syndrome
Marfan syndrome
Cleft palate
Cleft palate
Watson syndrome
Watson syndrome
Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome
Pigmented adrenocortical disease, primary isolated
Pigmented adrenocortical disease, primary isolated
Hypochondroplasia
Hypochondroplasia
Hyperostosis, endosteal
Hyperostosis, endosteal
Ossication of the posterior longitudinal spinal ligaments
Ossication of the posterior longitudinal spinal ligaments
Maculopathy, bull's-eye
Maculopathy, bull's-eye
Insomnia
Insomnia
Aarskog-Scott syndrome
Aarskog-Scott syndrome
Coloboma, ocular
Coloboma, ocular
Glutathione synthetase deciency
Glutathione synthetase deciency
Tetralogy of Fallot
Tetralogy of Fallot
Bladder cancer
Bladder cancer
Hemangioblastoma, cerebellar
Hemangioblastoma, cerebellar
Osteoarthritis
Osteoarthritis
Hepatic adenoma
Hepatic adenoma
Pilomatricoma
Pilomatricoma
Marshall syndrome
Marshall syndrome
Cervical carcinoma
Cervical carcinoma
Arthropathy
Arthropathy
Pancreatic cancer
Pancreatic cancer
Axenfeld anomaly
Axenfeld anomaly
Hypoalphalipoproteinemia
Hypoalphalipoproteinemia
Viral infection
Viral infection
Leber congenital amaurosis
Leber congenital amaurosis
WAGR syndrome
WAGR syndrome
Eye anomalies
Eye anomalies
Glaucoma
Glaucoma
Hemolytic anemia
Hemolytic anemia
Meniere disease
Meniere disease
Spastic ataxia/paraplegia
Spastic ataxia/paraplegia
EBD
EBD
Kniest dysplasia
Kniest dysplasia
Ectodermal dysplasia
Ectodermal dysplasia
Hyperinsulinism
Hyperinsulinism
Albinism
Albinism
Bare lymphocyte syndrome
Bare lymphocyte syndrome
Sepsis
Sepsis
Systemic lupus erythematosus
Systemic lupus erythematosus
Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome
Adenoma, periampullary
Adenoma, periampullary
VATER association with hydrocephalus
VATER association with hydrocephalus
Nevo syndrome
Nevo syndrome
Primary lateral sclerosis
Primary lateral sclerosis
Glomerulocystic kidney disease, hypoplastic
Glomerulocystic kidney disease, hypoplastic
Frasier syndrome
Frasier syndrome
Myelogenous leukemia
Myelogenous leukemia
Thyroid carcinoma
Thyroid carcinoma
Adenomas
Adenomas
Miyoshi myopathy
Miyoshi myopathy
Cutis laxa
Cutis laxa
Estrogen resistance
Estrogen resistance
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
Medulloblastoma
Medulloblastoma
Dissection of cervical arteries
Dissection of cervical arteries
Hypereosinophilic syndrome
Hypereosinophilic syndrome
Long QT syndrome
Long QT syndrome
Hyperlipoproteinemia
Hyperlipoproteinemia
Pituitary ACTH-secreting adenoma
Pituitary ACTH-secreting adenoma
Adenocarcinoma
Adenocarcinoma
Orolaryngeal cancer
Orolaryngeal cancer
Parkes Weber syndrome
Parkes Weber syndrome
Caffey disease
Caffey disease
Pfeiffer syndrome
Pfeiffer syndrome
Neutropenia
Neutropenia
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease
Pheochromocytoma
Pheochromocytoma
Brugada syndrome
Brugada syndrome
Adenosine deaminase deficiency
Adenosine deaminase deficiency
Sandho disease, infantile, juvenile, and adult forms
Rh-mod syndrome
Hemolytic-uremic syndrome
Non-Hodgkin lymphoma
Leanness, inherited
McCune-Albright syndrome
Achromatopsia
Thrombocytopenia
Osteoporosis-pseudoglioma syndrome
Placental abruption
Androgen insensitivity
Anorexia nervosa
Hirschsprung disease
Ichthyosiform erythroderma
Persistent hyperinsulinemic hypoglycemia of infancy
Retinitis pigmentosa
Arrhythmogenic right ventricular dysplasia
Graft-versus-host disease
Gardner syndrome
Birt-Hogg-Dube syndrome
Muir-Torre syndrome
Myxoma, intracardiac
Myelodysplastic syndrome
Loeys-Dietz syndrome
G6PD deficiency
Silver spastic paraplegia syndrome
Desmoid disease, hereditary
Solitary median maxillary central incisor
Listeria monocytogenes
Amyloidosis
Hematopoiesis, cyclic
Tangier disease
Rett syndrome
Weill-Marchesani syndrome
Atelosteogenesis
Wiskott-Aldrich syndrome
MODY
Histiocytoma
Nonsmall cell lung cancer
Achondrogenesis Ib
Cataract
Graves disease
Asperger syndrome
Vohwinkel syndrome
Hypocalcemia
Cardiomyopathy
Myocardial infarction
Foveal hypoplasia
Oculodentodigital dysplasia
Waardenburg syndrome
Rhabdomyosarcoma
Hypercholesterolemia
Acquired long QT syndrome
Deafness
Thrombocythemia
Adrenal adenoma
Pneumothorax, primary spontaneous
Capillary malformations
Netherton syndrome
Dermatobrosarcoma protuberans
Spherocytosis
Muenke syndrome
Hyperparathyroidism
Optic atrophy
Holoprosencephaly
Alcohol dependence
Paragangliomas
Costello syndrome
Pyruvate dehydrogenase deciency
PPM-X syndrome
Nijmegen breakage syndrome
MASS syndrome
Central core disease
Pyropoikilocytosis
Apolipoprotein deficiency
Hyperprolinemia
Sea-blue histiocyte disease
Macrothrombocytopenia
Oligodontia-colorectal cancer syndrome
Charcot-Marie-Tooth disease
Hypodontia
Urolithiasise
Noncompaction of left ventricular myocardium
Severe combined immunodeciency
Hyperthyroidism
Thanatophoric dysplasia, types I and II
Morning glory disc anomaly
Enhanced S-cone syndrome
Occipital horn syndrome
Alexander disease
Mastocytosis with associated hematologic disorder
Ataxia-telangiectasia
Beare-Stevenson cutis gyrata syndrome
Apparent mineralocorticoid excess, hypertension due to
Cyclic ichthyosis with epidermolytic hyperkeratosis
Blood group
van Buchem disease
Aortic aneurysm
Nevus, epidermal, epidermolytic hyperkeratotic type
Elliptocytosis
Anterior segment anomalies and cataract
Renal tubular dysgenesis
Crouzon syndrome
Supranuclear palsy
Stomach cancer
CPT deficiency, hepatic
Spondyloepiphyseal dysplasia
Nasopharyngeal carcinoma
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Vitelliform macular dystrophy
Sezary syndrome
Carpal tunnel syndrome, familial
Turcot syndrome
Beta-2-adrenoreceptor agonist, reduced response to
Preeclampsia
Macular dystrophy
Transient bullous of the newborn
Endometrial carcinoma
Mesothelioma
Cowden disease
Colon cancer
Epstein syndrome
Huntington disease
Prostate cancer
Osteogenesis imperfecta
Dentin dysplasia, type II
Fundus albipunctatus
Kallmann syndrome
Migraine
PCWH
Hypoceruloplasminemia
Anxiety-related personality traits
Ovarian cancer
Hystrix-like ichthyosis with deafness
Supravalvar aortic stenosis
Hypoglycemia
Aquaporin-1 deficiency
Central hypoventilation syndrome
Platelet defect/deficiency
Coats disease
Hemiplegic migraine, familial
Tietz syndrome
Unna-Thost disease, nonepidermolytic
Angelman syndrome
Enlarged vestibular aqueduct
Schwannomatosis
Waardenburg-Shah syndrome
Lower motor neuron disease, progressive, without sensory symptoms
Aneurysm, familial arterial
Subcortical laminar heterotopia
Coronary artery disease
Vertical talus
Adrenocortical carcinoma
Hyperkalemic periodic paralysis
Skin fragility-woolly hair syndrome
Lynch cancer family syndrome II
Optic nerve hypoplasia/aplasia
Thyroid hormone resistance
Mental retardation
Uterine leiomyoma
Pick disease
Squamous cell carcinoma
Mesangial sclerosis
Leprechaunism
Myelofibrosis, idiopathic
Hyperproreninemia
Ehlers-Danlos syndrome
Infantile spasm syndrome
Paramyotonia congenita
Lymphoma
Coronary spasms
Spondylocarpotarsal synostosis syndrome
Saethre-Chotzen syndrome
Craniofacial-skeletal-dermatologic dysplasia
Wilms tumor
Multiple endocrine neoplasia
Lhermitte-Duclos syndrome
T-cell lymphoblastic leukemia
Heart block
Gastrointestinal stromal tumor
Dystransthyretinemic hyperthyroxinemia
Goiter
Medullary thyroid carcinoma
Hemorrhagic diathesis
Leprosy
Rh-negative blood type
Walker-Warburg syndrome
Basal cell carcinoma
Duchenne muscular dystrophy
Somatotrophinoma
Emery-Dreifuss muscular dystrophy
HDL cholesterol level QTL
Insensitivity to pain
Sebastian syndrome
Cone dystrophy
Growth hormone
Denys-Drash syndrome
Nicotine addiction
Lipoma
Rieger syndrome
Keratosis palmoplantaria striata
Oligodendroglioma
Atherosclerosis
Keratitis-ichthyosis-deafness syndrome
Neuroblastoma
Nephropathy-hypertension
Fuchs endothelial corneal dystrophy
Hypertension
Hypercholanemia
Autoimmune disease
Myokymia with neonatal epilepsy
Allergic rhinitis
Osseous heteroplasia
Esophageal cancer
von Hippel-Lindau syndrome
Giant-cell fibroblastoma
Pigmented paravenous chorioretinal atrophy
Incontinentia pigmenti
Myeloperoxidase deficiency
Cerebellar ataxia
SARS, progression of
Intervertebral disc disease
Obesity
Carcinoid tumor of lung
Ring dermoid of cornea
Menkes disease
Corneal dystrophy
Rippling muscle disease
Hyperproinsulinemia
Coffin-Lowry syndrome
Iris hypoplasia and glaucoma
Memory impairment
Carcinoid tumors, intestinal
Roussy-Levy syndrome
Adult i phenotype
Williams-Beuren syndrome
Dejerine-Sottas disease
Butterfly dystrophy, retinal
Diastrophic dysplasia
Leigh syndrome
Melanoma
Episodic ataxia
Stargardt disease
Rabson-Mendenhall syndrome
Epidermolysis bullosa
Hyperthroidism
Lipodystrophy
Polycythemia
Angiofibroma, sporadic
Pallidopontonigral degeneration
Amyotrophic lateral sclerosis
Hypocalciuric hypercalcemia
Hypoplastic left heart syndrome
Favism
Hypothyroidism
Neuroectodermal tumors
Malaria
OSMED syndrome
Tauopathy and respiratory failure
Dopamine beta-hydroxylase deciency
Dentinogenesis imperfecta, Shields type
Renal tubular acidosis
Hypertriglyceridemia
Jackson-Weiss syndrome
Apert syndrome
Combined immunodeficiency
Syndactyly
Thyrotoxic periodic paralysis
Mitochondrial complex deciency
Papillary serous carcinoma of the peritoneum
Renal cell carcinoma
Osteosarcoma
Shprintzen-Goldberg syndrome
Stroke
Autoimmune thyroid disease
Myopathy
Multiple sclerosis
Creatine deciency syndrome, X-linked
Glioblastoma
Cancer susceptibility
Craniosynostosis
Gastric cancer
Peters anomaly
Polyposis
Partington syndrome
Lung cancer
Cerebral amyloid angiopathy
Larson syndrome
Macular degeneration
Myasthenic syndrome
Parkinson disease
Pancreatic agenesis
Creutzfeldt-Jakob disease
Prolactinoma, hyperparathyroidism, carcinoid syndrome
Myotonia congenita
Neuropathy
Obsessive-compulsive disorder
Fechtner syndrome
Retinal cone dsytrophy
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Macrocytic anemia
Myotilinopathy
Myoglobinuria/hemolysis due to PGK deciency
Ichthyosis
Stickler syndrome
Factor x deficiency
Shah-Waardenburg syndrome
Colonic aganglionosis, total, with small bowel involvement
Ataxia
Ectopia
Fanconi anemia
Yemenite deaf-blind hypopigmentation syndrome
Hypokalemic periodic paralysis
Cafe-au-lait spots
Mast cell leukemia
Malignant hyperthermia susceptibility
Lissencephaly
Simpson-Golabi-Behmel syndrome
Branchiootic syndrome
Ventricular tachycardia
Alzheimer disease
Becker muscular dystrophy
HIV
Basal cell nevus syndrome
Wagner syndrome
Pseudohypoparathyroidism
Angiotensin I-converting enzyme
Craniofacial anomalies, empty sella turcica, corneal endothelial changes
Newfoundland rod-cone dystrophy
Atopy
Atrial fibrillation
Ventricular brillation, idiopathic
Toenail dystrophy, isolated
Convulsions
Atrioventricular block
Laryngoonychocutaneous syndrome
Coumarin resistance
Li-Fraumeni syndrome
Keratitis
Muscular dystrophy
3-methylglutaconicaciduria
Diabetes mellitus
Neurofibromatosis
Amyloid neuropathy
Abetalipoproteinemia
Myoclonic epilepsy
Anemia
Placental steroid sulfatase deciency
Osteoporosis
Mohr-Tranebjaerg syndrome
Night blindness
Hypobetalipoproteinemia
Total iodide organication defect
Dyserythropoietic anemia
Exudative vitreoretinopathy
Erythrokeratoderma
Wolff-Parkinson-White syndrome
Sick sinus syndrome
Hemosiderosis, systemic, due to aceruloplasminemia
Norrie disease
Craniofacial-deafness-hand syndrome
Keratoconus
Germ cell tumor
Parathyroid adenoma
Prion disease with protracted course
Seasonal affective disorder
Bannayan-Riley-Ruvalcaba syndrome
Usher syndrome
Afibrinogenemia
Adrenal cortical carcinoma
Alagille syndrome
Spinal muscular atrophy
Neurofibromatosis
Epidermolytic hyperkeratosis
Dysfibrinogenemia
Complementary component deficiency
Bothnia retinal dystrophy
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
Wegener granulomatosis
Schizophrenia
May-Hegglin anomaly
Hypofibrinogenemia
SMED Strudwick type
Perineal hypospadias
Peutz-Jeghers syndrome
GRACILE syndrome
Breast cancer
Cramps, potassium-aggravated
Gerstmann-Straussler disease
Self-healing collodion baby
Acromegaly
Li Fraumeni syndrome
Pendred syndrome
ABCD syndrome
Iridogoniodysgenesis
Bone mineral density variability
Epiphyseal dysplasia
Parietal foramina
Meningioma
Retinoblastoma
Achondrogenesis-hypochondrogenesis, type II
Asthma
Carney complex
Osteopetrosis
Weissenbacher-Zweymuller syndrome
Witkop syndrome
Thrombophilia
Neurofibrosarcoma
Dilated cardiomyopathy with woolly hair and keratoderma
Fanconi-Bickel syndrome
Rheumatoid arthritis
Creatine phosphokinase
Bart-Pumphrey syndrome
Barth syndrome
Jensen syndrome
Omenn syndrome
Leukemia
Maple syrup urine disease
IgE levels QTL
Proud syndrome
Insulin resistance
Salivary adenoma
Pseudoachondroplasia
Piebaldism
Aniridia, type II
Epilepsy
Rubenstein-Taybi syndrome
Neurobromatosis-Noonan syndrome
Multiple malignancy syndrome
Trismus-pseudocomptodactyly syndrome
Oligodontia
Emphysema
Liddle syndrome
Autism
Leopard syndrome
Merkel cell carcinoma
Pseudohypoaldosteronism
Infundibular hypoplasia and hypopituitarism
Benzene toxicity
Spinocereballar ataxia
Homocystinuria
Achondroplasia
Dementia
Keratoderma, palmoplantar, with deafness
Noonan syndrome
Marfan syndrome
Cleft palate
Watson syndrome
Jervell and Lange-Nielsen syndrome
Pigmented adrenocortical disease, primary isolated
Hypochondroplasia
Hyperostosis, endosteal
Ossication of the posterior longitudinal spinal ligaments
Maculopathy, bull's-eye
Insomnia
Aarskog-Scott syndrome
Coloboma, ocular
Glutathione synthetase deciency
Tetralogy of Fallot
Bladder cancer
Hemangioblastoma, cerebellar
Osteoarthritis
Hepatic adenoma
Pilomatricoma
Marshall syndrome
Cervical carcinoma
Arthropathy
Pancreatic cancer
Axenfeld anomaly
Hypoalphalipoproteinemia
Viral infection
Leber congenital amaurosis
WAGR syndrome
Eye anomalies
Glaucoma
Hemolytic anemia
Meniere disease
Spastic ataxia/paraplegia
EBD
Kniest dysplasia
Ectodermal dysplasia
Hyperinsulinism
Albinism
Bare lymphocyte syndrome
Sepsis
Systemic lupus erythematosus
Zlotogora-Ogur syndrome
Adenoma, periampullary
VATER association with hydrocephalus
Nevo syndrome
Primary lateral sclerosis
Glomerulocystic kidney disease, hypoplastic
Frasier syndrome
Myelogenous leukemia
Thyroid carcinoma
Adenomas
Miyoshi myopathy
Cutis laxa
Estrogen resistance
Alternating hemiplegia of childhood
Medulloblastoma
Dissection of cervical arteries
Hypereosinophilic syndrome
Long QT syndrome
Hyperlipoproteinemia
Pituitary ACTH-secreting adenoma
Adenocarcinoma
Orolaryngeal cancer
Parkes Weber syndrome
Caffey disease
Pfeiffer syndrome
Neutropenia
Pelizaeus-Merzbacher disease
Pheochromocytoma
Brugada syndrome
Adenosine deaminase deficiency