Gene Summary

plasminogen activator, tissue
t-PA,  D8Ertd2e,  tPA

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Plattm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Plattm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Plattm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Plattm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

81 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Forepaw

10 Images

Human diseases caused by Plat mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Plat by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator

The table below shows human diseases predicted to be associated to Plat by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Cardiomegaly OMIM:227150
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... OMIM:615542
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Symmetric polyarthritis, Osteopenia, Reduced bone mineral den... ORPHA:85435
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Cardiomyopathy, Left ventricular hypertrophy, Stroke, Decreased muscle g... OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Endocardial Fibroelastosis
Cryptorchidism, Cardiomyopathy, Endocardial fibroelastosis OMIM:226000
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Facial palsy, Cerebral ischemia, Stroke, Transient i... ORPHA:36382
Osteochondritis Dissecans
Limited elbow flexion, Gait disturbance, Abnormality of the knee, Abnormal joint morphology, Limi... ORPHA:2764
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Tenosynovial Giant Cell Tumor
Synovial hypertrophy, Abnormal hip joint morphology, Chondrocalcinosis, Abnormality of the knee, ... ORPHA:66627
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Gas... OMIM:273800
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... OMIM:173470
Panner Disease
Irregular articular surfaces of the elbow joints, Osteochondrosis, Abnormality of upper limb join... ORPHA:97336
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Abnormal circulating creatine kinase concentration, Atrial fibrilla... ORPHA:217607
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Lyme Disease
Infectious encephalitis, Arthritis, Uveitis, Joint swelling, Memory impairment ORPHA:91546
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Arthritis, Irrit... OMIM:228000
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Paroxysm... ORPHA:563
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Antalgic... ORPHA:563991
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Retinal vascular malformation OMIM:116860
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... ORPHA:284388
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Progressive Pseudorheumatoid Dysplasia
Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Waddlin... OMIM:208230
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... ORPHA:3092
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abn... ORPHA:2032
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism, Atrial septal defect DECIPHER:39
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Wheezing, Lung adenocarcinoma, Pleural thickening, Exer... ORPHA:2302
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Lethargy, Hypogonadotropic hypogonadism, Osteoporosis, Apathy, Arthritis, Inc... ORPHA:465508
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling ORPHA:1525
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Leukocytosis, Respiratory insufficiency, Apnea, Cardiomegaly, ... OMIM:618886
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Chondritis, Knee osteoarthritis, Arthri... ORPHA:566943
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Hypoproteinemia, Gingival bleeding, Petechiae, Leukopenia, Epi... ORPHA:99828
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Elevated circulating creatine kinase concentration, Generalized amyot... ORPHA:86812
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Dyspnea, Myo... OMIM:613873
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Increased circulating ferritin concentration, Hepatosplen... ORPHA:210136
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Wilson Disease
Aggressive behavior, Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Difficulty walki... ORPHA:905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Respiratory insufficiency, Macroglossia, Elevated circulating creati... OMIM:613156
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Sinding-Larsen-Johansson Disease
Painless fractures due to injury, Osteochondrosis, Limitation of knee mobility, Joint swelling ORPHA:97337
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Drusen OMIM:618632
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding, Stroke, Autoimmune thromboc... ORPHA:3325
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Intracranial hemorrhage, Abnormality of the optic nerve, Acute leukem... ORPHA:3226
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary h... OMIM:178550
Immunodeficiency 61
Agammaglobulinemia, Recurrent otitis media, Arthritis, Attention deficit hyperactivity disorder, ... OMIM:300310
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Bleeding with ... ORPHA:98878
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Abnormal left ventricle morphol... OMIM:300845
Hemochromatosis Type 4
Increased circulating ferritin concentration, Joint dislocation, Joint swelling, Limitation of jo... ORPHA:139491
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Elevated circulating C-... ORPHA:85414
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Hip contracture, Gingival bleeding, Subdural hemorr... ORPHA:169805
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Genu varum, Abnormal hip joint morphology, Abnormality of the knee, Irregular ace... ORPHA:1159
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... ORPHA:564003
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Global systo... ORPHA:57777
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Abnormality of the optic nerve, Intracranial hemorrhage, Perma... ORPHA:31825
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Pericardi... ORPHA:79126
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulatin... ORPHA:254361
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Hypoalbuminemia ORPHA:84090
Congenital Fibrinogen Deficiency
Splenic rupture, Gingival bleeding, Right ventricular hypertrophy, Prolonged prothrombin time, Ta... ORPHA:335
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Myofibrillar Myopathy 10
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Increased QRS volt... OMIM:619040
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... ORPHA:136
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Apnea, Bradycardia, Left ventricular hypertrophy, Congesti... OMIM:619048
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced expiratory volume in one second, Cough, Decreased DLCO, Pulmonary ... OMIM:616371
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke ORPHA:280679
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Delayed puberty, Skin rash, Flexion contract... OMIM:609628
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Abnormal joint morphology, Pericardial effusion, Abnormal sacroiliac joi... ORPHA:92
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiom... OMIM:617713
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Decreased DLCO, Pulmonary fibrosis, Reduced force... OMIM:616373
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Abnormality of the endocrine system, Osteoporosis, Acne,... ORPHA:77296
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Sydenham Chorea
Inappropriate behavior, Endocarditis, Septic arthritis, Emotional lability, Irritability, Unstead... ORPHA:306731
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid arthritis, Joint stiffness, Elevated circulating C-reactive p... OMIM:180300
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial pa... OMIM:612387
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Retinal vascular malformation, Epistaxis, Iris hypopigmen... ORPHA:53719
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hip contracture, Throm... ORPHA:464321
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Restrictive ventilatory defect, Crackles, Iron deficiency anemia, Cardiomegaly, Cou... ORPHA:99931
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... ORPHA:85408
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Sinusitis, Intracranial hemorrhage, Neutropenia, Chronic pulmonary obstruction, Pneumonia, Bronch... ORPHA:1163
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Premature adrenarche, Increased circulating cortisol level, Genu valgu... OMIM:169170
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Cognitive impairment, Arthritis, Oste... ORPHA:29207
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Petechiae, Bradycardia, Patent duct... OMIM:617397
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Stroke, Increased hematocrit, Hypotension, In... OMIM:263400
Adult-Onset Still Disease
Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash, Elevated circulating C-reactive prote... ORPHA:829
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Hermansky-Pudlak Syndrome 4
Restrictive ventilatory defect, Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis,... OMIM:614073
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Left ventricular hypertrophy, Respiratory distress, Flexion contracture, Pulmonary ... OMIM:616733
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Dilated cardiomyopathy, Hepatomegaly, Abnormal muscle fiber morphology, Hypertrophic cardiomyopat... ORPHA:732
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia, Respiratory insufficiency OMIM:614654
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Cerebral vasculitis, Asthma, Eosinophilia, Subarachnoid hemor... OMIM:243700
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic bronchitis, Neutropenia, Pancytopenia, Leukopenia, Partial absence of ... OMIM:618986
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Limited Cutaneous Systemic Sclerosis
Contractures involving the joints of the feet, Pulmonary arterial hypertension, Telangiectasia of... ORPHA:220402
Severe Hemophilia A
Limb joint contracture, Menorrhagia, Epidural hemorrhage, Intracranial hemorrhage, Subdural hemor... ORPHA:169802
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limited shoulder movement, Knee osteoarthritis, Abnormal epiphyseal ossificat... ORPHA:93284
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ocular albinism, Epistaxis, Cardiomyopathy, Prolonged bleeding time, Pulmonary... OMIM:203300
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertensive retinopathy, Hypertensi... ORPHA:94080
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Xerostomia, Arthritis, Gastritis... ORPHA:809
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia OMIM:610947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Left ventricular h... OMIM:613153
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Pulmonary hemorrhage, Cough, A... OMIM:616414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... OMIM:610921
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... OMIM:610489
Congenital Atransferrinemia
Arthritis, Hypothyroidism ORPHA:1195
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Irregular septal thickening on pulmonary HRCT, Anemia, Cough, Pulmonary ... ORPHA:90060
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Respiratory paralysis, Tachyca... ORPHA:449285
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Glycoprotein Storage Disease
Gout OMIM:232900
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Mitral valve prolapse, Angina pectoris, Angioid streaks of the fundus, Macul... OMIM:177850
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Obstructive sleep apnea, Anemia, Cough, Myeloid leukemia, Reticular pattern on pulmonar... OMIM:614742
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Hypertensive r... OMIM:171420
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Macroglossia, Elevated circ... ORPHA:308552
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Elevated circulating C-reactive protein concentration, Macular pu... ORPHA:49566
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Patent ductus arter... OMIM:615355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Tr... OMIM:600376
Osteolysis, Joint swelling, Pathologic fracture ORPHA:668
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding, Intramuscul... OMIM:227500
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Antisynthetase Syndrome
Myocarditis, Respiratory insufficiency, Myositis, Elevated circulating creatine kinase concentrat... ORPHA:81
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Papilledema, Stroke, Subarachn... ORPHA:97339
Cocaine Intoxication
Mydriasis, Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperv... ORPHA:90068
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Pigmentary retinopathy, Skeletal muscle atrophy, Noncompaction cardi... ORPHA:3208
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Edema, Osteoporosis, Acne, Arthritis, O... ORPHA:2796
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Polycythemia, Abnormality of the pulmonary va... ORPHA:284227
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteopenia, Fused cervical vertebrae, Osteomyelitis, Skin rash, Elevated cir... OMIM:612852
Infectious encephalitis, Synovitis, Arthritis, Facial edema, Ankle joint effusion, Crusting eryth... ORPHA:324625
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Limited knee e... OMIM:600969
Riddle Syndrome
Telangiectasia, Restrictive ventilatory defect, Pneumonia, Decreased circulating IgA level, Decre... ORPHA:420741
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Delayed epiphyseal ossification, Ge... ORPHA:93308
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Acute Lung Injury
Shock, Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Incre... ORPHA:178320
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Left ventricular s... OMIM:619167
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Adiposis Dolorosa
Xerostomia, Arthritis, Recurrent skin infections, Hypothyroidism, Anxiety, Depression, Memory imp... ORPHA:36397
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... OMIM:615474
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Ventricular septal defect, Neonatal respiratory distress, Crackles, Elevated... OMIM:610978
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Decreased mea... ORPHA:244242
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... ORPHA:1686
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Ex... OMIM:187300
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... ORPHA:251274
Pseudoleprechaunism Syndrome, Patterson Type
Delayed pubic bone ossification, Premature adrenarche, Genu valgum, Increased circulating androge... ORPHA:2976
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Blau Syndrome
Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,... OMIM:186580
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Recurrent aspiration pneumonia, T lymphocytopenia, Anemia, Pulmonary hemorrhage, Co... ORPHA:79124
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Thrombocytosis, Skeletal muscle atrophy, Leukopenia, Myositis, Increased circulat... OMIM:615934
Bronchopulmonary Dysplasia
Right ventricular failure, Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Idiopathic Camptocormia
Abnormal inflammatory response, Dystonia, Myositis, Elevated circulating creatine kinase concentr... ORPHA:1320
Lymphoid Interstitial Pneumonia
Wheezing, Hepatomegaly, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, ... ORPHA:79128
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infar... OMIM:155100
Farber Disease
Abnormality of the knee, Ascites, Abnormality of the elbow, Osteoporosis, Arthritis, Abnormality ... ORPHA:333
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Dementia, Eczema, Erythroderma, Ankle swelling... ORPHA:3260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... OMIM:608836
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Neutropenia, Rhinitis, Abnormal lymphocyte morphology, Ane... ORPHA:47612
Fabry Disease
Hypertension, Anemia, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardial in... OMIM:301500
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... ORPHA:449280
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myocardial infarction,... OMIM:205400
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Cerebral vasculitis, Stroke, Transient ischemic attack, Pseudopapilledema ORPHA:140989
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Macular atrophy, Mitral regurgitation, Epistaxis, Pulmonary arterial ... OMIM:230800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Respiratory insufficiency, Facial diplegia, Generalized amyotrophy, Facial palsy... ORPHA:169186
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Recu... OMIM:268500
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Skeletal myopathy, Mitral regurgitation, Cardiomyopathy, Tricuspid reg... ORPHA:746
Wiskott-Aldrich Syndrome
Sinusitis, Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic ... ORPHA:906
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash, Elevat... OMIM:617099
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Recurrent otitis media, Joint swelling, Rheumatoid arthritis, Juvenile rheumatoid arth... OMIM:607944
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... OMIM:231200
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Ocular albinism, Reduced natural killer cell activity, Enlarged platel... OMIM:608233
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... OMIM:235200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Right ventricular hypertrophy, Spontaneo... ORPHA:217563
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Cystic acne, Colitis, Acne, Arthritis, Knee flexion contracture, Elevated circ... OMIM:604416
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Irregul... ORPHA:750
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Short stepped shuffling gait, Hip osteoarthritis ORPHA:86820
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arthritis, Lethargy OMIM:602390
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Left ventricular hypertrophy, Stroke, Hypertensi... ORPHA:320
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Transient ischemic attack, Vasculitis, Sleep apnea, Respiratory failure, Shor... ORPHA:365
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory dis... ORPHA:238459
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Purulent rhinitis, Conjunctivitis OMIM:601457
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Self-injurious behavior, Periodontitis, Hyperaldosteronism, Anxiety, Osteom... ORPHA:534
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Prolonged prothrombin time, EMG: m... ORPHA:99901
Myocarditis, Right ventricular failure, Myopathy, Syncope, Pericarditis, Elevated circulating cre... ORPHA:801
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Ocular albinism, Decreased circulating IgG level, Hypopigmentat... OMIM:242840
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... ORPHA:60025
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Skeletal muscle atrophy, Pulmon... OMIM:615704
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertensive retinopathy, Hypertensi... ORPHA:276621
Systemic Sclerosis
Myocarditis, Pericarditis, Elevated circulating creatine kinase concentration, Arthritis, Osteomy... ORPHA:90291
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... ORPHA:324636
Pulmonary Arteriovenous Malformation
Brain abscess, Bacterial endocarditis, Telangiectasia, Hypoxemia, Palpitations, Iron deficiency a... ORPHA:2038
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Abnormal tricuspid valve morphology, Patent ductus arter... ORPHA:90308
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... ORPHA:231
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Hepatomegaly, Optic atrophy, Decreased circulating IgA level, Decreased circulating IgG level, De... ORPHA:79330
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Fabry Disease
Achalasia, Transient ischemic attack, Emphysema, Hypertrophic cardiomyopathy, Hypertension, Abnor... ORPHA:324
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Thrombocytopenia, Anemia, Camptodactyly OMIM:611209
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, Ne... OMIM:619644
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Optic atrophy ORPHA:401866
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Hypertension, Optic atrophy, Pericarditis, Pericardial effusion, ... OMIM:619487
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Megaloblastic anemia, Neutropenia, Intraventricular hemorrhage ORPHA:79284
Braddock Syndrome
Pulmonary fibrosis, Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary art... ORPHA:52047
Prostatitis, Joint dislocation, Arthritis, Reduced bone mineral density, Joint stiffness, Osteoar... ORPHA:56
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Cognitive impairment, Gout OMIM:617056
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Juvenile Dermatomyositis
Restrictive ventilatory defect, Calcinosis, Pericarditis, Myositis, Elevated circulating creatine... ORPHA:93672
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Atrial fibrillation,... ORPHA:75249
Anxiety, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, Abnormality of the... ORPHA:963
Erdheim-Chester Disease
Diabetes insipidus, Hypogonadotropic hypogonadism, Osteomyelitis, Xanthelasma, Ataxia, Increased ... ORPHA:35687
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno... ORPHA:166002
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Increased circulating antibody level, ... ORPHA:411593
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Hypertensive r... OMIM:171300
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Anxiety, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, Pituitary adenoma,... ORPHA:314769
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Intracranial hemorrhage, Arthrogryposis multiplex congen... ORPHA:85212
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Elevated circulating cr... ORPHA:353
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Waddling gait, Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis OMIM:165800
Retinal Dystrophy With Or Without Extraocular Anomalies
Retinal dystrophy, Pulmonary fibrosis OMIM:617175
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage OMIM:616507
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Monoclonal light chain cardiac amyloidosis, Bruising s... ORPHA:85443
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Retinal capillary hemangioma, Palpitations, Aniridia, Congestive heart failu... ORPHA:29072
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... ORPHA:369929
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Hip contracture, Abnormality of the knee, Limited hip movement, Hip subluxati... ORPHA:99642
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Pulmonary fibrosis, Myeloid leukemia, Aplastic anemia OMIM:614743
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Hypoalbuminemia, Elevated circulating creatine kinase concentration, ... OMIM:619055
Granulomatosis With Polyangiitis
Sinusitis, Pleuritis, Recurrent intrapulmonary hemorrhage, Cerebral ischemia, Gastrointestinal he... ORPHA:900
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Ane... ORPHA:464329
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia, Cerebellar hemorrhage OMIM:243500
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Epiphyseal Dysplasia, Multiple, 1
Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit... OMIM:132400
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Aplastic ... OMIM:613989
Propionic Acidemia
Hepatomegaly, Neutropenia, Limb hypertonia, Tachypnea, Apnea, Anemia, Cardiomyopathy, Pancytopeni... OMIM:606054
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland, Ectopic ossification in muscle tissue, Limi... ORPHA:2762
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Decreased DLCO, Pulmonary fibrosis, Emphysema OMIM:618913
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Tendon rupture, Mitral valve prolapse, Mitral regurgitation, Aortic regu... ORPHA:230851
Mucolipidosis Type Ii
Pulmonary insufficiency, Stridor, Hip contracture, Mitral regurgitation, Abnormal mitral valve mo... ORPHA:576
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Cardiomyopathy, Thrombocytopenia, Cerebellar hemorrhage OMIM:251000
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Coronary Arterial Fistula
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Abnormal EKG, Abnor... ORPHA:2041
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Abnormal circulating corticos... ORPHA:556037
Ectopic ossification in muscle tissue, Arthritis, Increased bone mineral density, Joint stiffness... ORPHA:2485
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Stroke, Vasculitis, Art... ORPHA:494424
Autosomal Dominant Spastic Paraplegia Type 36
Spastic gait, Arthritis ORPHA:320365
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteom... ORPHA:33110
Autoimmune Hepatitis
Inflammation of the large intestine, Ascites, Anxiety, Sclerosing cholangitis, Fulminant hepatiti... ORPHA:2137
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertension, Paroxysmal dyspnea, Abnormality iris morphology, Pneumothora... ORPHA:91387
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... ORPHA:199241
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Optic neuropathy, Restrictive ventilatory defect, Hypoxemia, Pericardial effusion, ... OMIM:181000
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Thrombocytopenia, Leukopenia, Elevated circula... ORPHA:206572
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Waddling gait, Limita... ORPHA:166011
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arthritis OMIM:604250
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Congestive hear... ORPHA:220393
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Menkes Disease
Intracranial hemorrhage OMIM:309400
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity OMIM:130020
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Splenomegaly, Pancytopenia, Diffuse a... ORPHA:99827
Vascular Hyalinosis
Chorioretinal scar, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Diabetes mellitus OMIM:606069
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Neutropenia, Ocular albinism, Epistaxis, Cardiomyopathy, Gastroin... ORPHA:79430
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Myositis, Cognitive impairment, Edema, Discoid lupus rash, Arthrit... ORPHA:93552
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Recurrent ... OMIM:618935
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... ORPHA:860
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Myopathy, Cerebral hemorrhage, Skeletal muscle atrophy, Ante... ORPHA:536545
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Hepatomegaly, Epistaxis, Cough, Splenomegaly, Gastrointestinal hemorrhage, Abnormal pulmonary int... ORPHA:99745
Cerebral Visual Impairment
Optic atrophy, Retinopathy of prematurity, Intracranial hemorrhage, Optic disc pallor, Optic nerv... ORPHA:447788
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Neonatal respiratory distress, Pulmonary arterial hypertension, Respir... ORPHA:209905
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Decreased circulating total IgG, Pneumonia, Bronchiectasis, Coli... OMIM:619381
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su... OMIM:130060
Gaucher Disease
Mitral valve calcification, Splenomegaly, Pancytopenia, Elevated circulating C-reactive protein c... ORPHA:355
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... ORPHA:90793
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentration, Conjunctivitis OMIM:120100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Autoimmune Lymphoproliferative Syndrome, Type Iii
Membranous nephropathy, Reduced natural killer cell activity, Recurrent otitis media, Arthritis, ... OMIM:615559
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hemorrhagic Fever-Renal Syndrome
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... ORPHA:340
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Skin rash, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein conc... OMIM:611762
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Hypertension, Telangiectasia, Pulmonary artery vasoconstriction, Right... OMIM:178600
Cinca Syndrome
Patellar overgrowth, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein conce... OMIM:607115
Von Willebrand Disease, Type 1
Menorrhagia, Mitral valve prolapse, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Pro... OMIM:193400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Bardet-Biedl Syndrome 1
Hypertension, Retinal degeneration, Retinal dystrophy, Hyperautofluorescent macular lesion, Rod-c... OMIM:209900
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Arthritis, Skin rash ORPHA:37748
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Crackles, Hypersensitivity pneumonitis, Increased circulating ... ORPHA:2902
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Metacarpal synostosis, Elevated circulat... ORPHA:95699
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uveitis, Abnormal... ORPHA:85410
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis ORPHA:85198
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Hypoplasia of the iris, Elevated c... OMIM:175780
Antenatal intracerebral hemorrhage, Optic nerve hypoplasia, Chorioretinal atrophy, Dilatation of ... ORPHA:2177
Bronchial Neuroendocrine Tumor