Gene Summary

Name:
platelet derived growth factor receptor, beta polypeptide
Synonyms:
CD140b,  Pdgfr

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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
enlarged heart Pdgfrbtm1b(EUCOMM)Hmgu HET Early adult 0.00
increased circulating triglyceride level Pdgfrbtm1b(EUCOMM)Hmgu HET Early adult 3.13×10-05
preweaning lethality, complete penetrance Pdgfrbtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal seminal vesicle morphology Pdgfrbtm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased circulating fructosamine level Pdgfrbtm1b(EUCOMM)Hmgu HET Early adult 5.73×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Not available
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Not available
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 50% (1 of 2)

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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Pdgfrb 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 Pdgfrb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Brachy... OMIM:601812
Kosaki Overgrowth Syndrome
Fragile skin, Wide nasal bridge OMIM:616592
Infantile Myofibromatosis
Abnormality of the kidney, Skin ulcer ORPHA:2591
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Basal Ganglia Calcification, Idiopathic, 4
OMIM:615007
Myofibromatosis, Infantile, 1
OMIM:228550

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Micrognathia, Transp... OMIM:231060
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Jaundice, Splenomegaly, Anemia, Anemia of i... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cryptorchidism, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arte... ORPHA:3304
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Hypertrophic c... ORPHA:295
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Hypoplastic right heart, Ventricular septal defect, Split foot, Tetralogy of Fallot, Micrognathia OMIM:601348
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Vascular dilatation, Nephropathy, Dilatation of the cereb... OMIM:611773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Purpura, Anuria, Reticulocytosis, Hyperte... OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, ... OMIM:274150
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Ulnar deviation o... OMIM:616145
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Oligohydramnios, Nephropathy, Multicystic kidn... ORPHA:1909
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Fibronectin Glomerulopathy
Pedal edema, Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic ... ORPHA:84090
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:615234
Transaldolase Deficiency
Abnormality of the kidney, Hydrops fetalis, Premature skin wrinkling, Thrombocytopenia, Edema, An... ORPHA:101028
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Thrombocytopenia, Premature birth, Asc... ORPHA:2123
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Abnormal hip bone morpholo... ORPHA:1166
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Ventricular septal defect, Adducted thumb, Hypoplasia of the thymus, Pulmona... OMIM:617022
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Anti-Glomerular Basement Membrane Disease
Hematuria, Purpura, Glomerulopathy, Anemia, Renal insufficiency, Vasculitis, Proteinuria ORPHA:375
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Abnormal hemoglobin... ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia,... OMIM:613673
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... OMIM:601927
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... ORPHA:228190
Preeclampsia/Eclampsia 1
Maternal hypertension, Preeclampsia, Hypertension, Thrombocytopenia, Eclampsia, Edema, Proteinuria OMIM:189800
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Hydrops fetalis, Maternal diabetes, Paroxysmal supraventri... ORPHA:45452
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Abnormal erythrocyte morphology, Melena, Anisocytos... ORPHA:98870
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Abnormal bleeding, Thrombocytosis, Abnormal erythrocyte morphology, Anisocy... ORPHA:86841
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Abnormal aortic arch morphology, Mandibular prognathia, Abnorm... ORPHA:1110
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Cryptorchidism, Atrial septal defect, Cutaneous syndactyly, Overlapping toe,... OMIM:618316
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... OMIM:604381
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Ethanolaminosis
Cardiomegaly OMIM:227150
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Retinal peau d'orange, Optic disc drusen, Renovascular hypertension,... OMIM:264800
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesi... ORPHA:824
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depresse... ORPHA:1918
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Clinodactyly, Brachydactyly OMIM:233270
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Imm... OMIM:613496
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Hematuria, Gastrointestinal hemorrhage, Purpura, Intracranial... ORPHA:853
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis OMIM:616457
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Chronic rhinitis, R... OMIM:617577
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Vitreoretinopathy, Ret... OMIM:193235
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Short 5th metacarpal, Sandal gap, Pulmonic stenosis, Perimembranous ventricular septa... OMIM:617877
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Hemolytic-uremic syndrome, Glomeruloneph... OMIM:615008
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cutis marmorata, Short... OMIM:615297
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Stormorken-Sjaastad-Langslet Syndrome
Abnormal thrombocyte morphology, Asplenia, Anemia, Purpura ORPHA:3204
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Hematuria, Internal hemorrhage, Gastrointestinal hemorr... ORPHA:90308
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment, Retinal detachment OMIM:614224
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Glycogen Storage Disease Vi
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Retinal Capillary Malformation
Retinal capillary hemangioma, Epiretinal membrane, Subretinal exudate, Vitreous floaters, Retinal... ORPHA:71213
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Syncope, Epistaxis, Neutropenia in pres... ORPHA:1959
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Maternal diabetes, Patent ductus arteriosus, Abnormal tricuspid valve m... ORPHA:1208
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Short nose, Ven... ORPHA:401935
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Hematuria, Purpura, Leukocytosis, Oral cavity bleeding, Neutropeni... ORPHA:520
Familial Afibrinogenemia
Abnormal bleeding, Joint swelling, Epistaxis, Cerebral hemorrhage, Spontaneous abortion, Gingival... ORPHA:98880
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short phalanx of finge... OMIM:613458
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Short nose, Ventricular septal defect, Patent ductus arteriosus, Toe clinodactyly... ORPHA:261120
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, 2-3... ORPHA:477817
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Hematuria, ... ORPHA:326
Hemochromatosis, Type 3
Purpura, Lymphopenia, Neutropenia, Anemia, Cardiomyopathy OMIM:604250
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Anosmia, Patent ductus arteriosus, Hy... OMIM:147770
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... ORPHA:231393
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Alpha-Thalassemia
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Jaundice, Hypersplenism, Splenomegaly, Anem... ORPHA:846
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Abnormal endocardium mo... ORPHA:758
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Postaxial polydactyly, Ventricular septal defect OMIM:603387
Sandestig-Stefanova Syndrome
Convex nasal ridge, Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases... OMIM:618804
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Sonoda Syndrome
High axial triradius, Depressed nasal bridge, Ventricular septal defect OMIM:270460
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Cryptorchidism, Atrial septal defect, Truncus arte... OMIM:601186
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Aminoaciduria, Sideroblastic anemia, B lymphocytopenia, Splenomega... OMIM:616084
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus art... OMIM:179613
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Decreased response to growth... OMIM:220210
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Intracranial hemorrhage, Death in infancy, ... ORPHA:85212
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency, Rod-cone dystrophy OMIM:615987
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Carious teeth, Atrial septal defect, Overlapping toe, Abnormal h... ORPHA:363444
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence, Micropenis, Death in infancy, Dilated cardiomyopathy, H... OMIM:618815
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... OMIM:192430
Complement Component 4A Deficiency
Glomerulonephritis, Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Snakebite Envenomation
Ecchymosis, Abnormal bleeding, Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, H... ORPHA:449285
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Hydrops fetalis, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Bruising susceptibility, Abnormal number of dense granules OMIM:614072
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Coarctation of aorta, Tetralog... ORPHA:261243
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Orotic Aciduria
Hypochromia, Hematuria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Orotic acid cryst... OMIM:258900
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thrombocytopenia, Jaun... ORPHA:290
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Patent ductus arteriosus, Bicuspid aortic valve, C... OMIM:612474
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Myeloid leukemia, Joint hemorrhage, Poor wound heal... ORPHA:331
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Sandal gap, Malar flattening, Clinodactyly of the 5th finger, Delayed... ORPHA:217340
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of medium-sized arteries, Angina pectoris, Arte... OMIM:177850
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Iga Nephropathy, Susceptibility To, 1
Hematuria, Purpura, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulu... OMIM:161950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute kidney injury, Anuria, Reticulocytosis, Leukocytosis, He... ORPHA:90038
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Clinodactyly, Double outl... OMIM:618164
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of the calcaneus, Hypoplastic ... ORPHA:40366
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Hem... ORPHA:98879
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Maternal Phenylketonuria
Deviated nasal septum, Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, B... ORPHA:2209
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Gingival bleeding, Ane... ORPHA:88
Bardet-Biedl Syndrome 16
Renal insufficiency, Rod-cone dystrophy, Retinal degeneration, Renal dysplasia, Renal cyst, Renal... OMIM:615993
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Urticaria, Pleural effusion, Pe... ORPHA:33226
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Sepsis In Premature Infants
Abnormal bleeding, Prenatal maternal abnormality, Purpura, Leukocytosis, Hypotension, Caesarian s... ORPHA:90051
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Partially duplicated kidney, Gastrointestina... ORPHA:274
Refractory Anemia
Erythroid hypoplasia, Abnormal bleeding, Abnormal cardiac ventricular function, Neutropenia, Norm... ORPHA:98826
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Petechiae, Anemia, Sple... OMIM:612840
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Nonimmune hydrops fetalis... OMIM:619003
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Pericardial effusion, Thrombocytopenia, Petechiae, Anemia, Prolonged QTc... ORPHA:231111
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Breath-Holding Spells
Iron deficiency anemia, Cyanosis, Pallor OMIM:607578
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Livedoid Vasculopathy
Ischemic stroke, Poor wound healing, Leukocytosis, Abnormal capillary morphology, Polycythemia, P... ORPHA:542643
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Rod-cone dystrophy, Retinal dystrophy OMIM:605231
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Hematuria, Intracranial he... ORPHA:79
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasa... ORPHA:3303
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Coffin-Siris Syndrome 10
Ventricular septal defect, Persistence of primary teeth, Laryngomalacia, Clinodactyly, Anteverted... OMIM:618506
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmona... ORPHA:1926
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Bruising susceptibility, Striae distensae OMIM:225310
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 4th metacarpal, Short 3rd toe, Short 3rd metacarpal, Intrinsic hand muscle atrophy, Split h... OMIM:618569
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Jaundice, Anemia, Splenomegaly, Decreased mean ... OMIM:616860
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Lymphedema, Pleural effusion, Pericard... ORPHA:1041
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal exudate, Macular ede... OMIM:192315
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Nephrotic syndrome, Congestive heart failure, Death in c... OMIM:269920
Congenital Enterovirus Infection
Polyhydramnios, Abnormal bleeding, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology,... ORPHA:292
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular septal defect, Broad hal... ORPHA:2876
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency, Tetralogy of... ORPHA:251076
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Purpura, Ulnar bowing, Congenital thrombocytopenia, Petechiae, Syndactyly, Aplasti... OMIM:605432
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Abnormality of the urinary system, Macrothrombocytope... OMIM:600208
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Retinal coloboma, Chorioretinal atrophy, M... OMIM:120330
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Pancytopenia, Peripheral arterial stenosis, Leukopenia, Anemia OMIM:167850
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, Decreased mean cor... OMIM:611590
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Purpura, Glomerulopathy, Petechiae, Cutis marmorata, Sple... ORPHA:91138
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Abnormality of pelvic girdle bone... ORPHA:2370
Apert Syndrome
Delayed eruption of teeth, Anomalous tracheal cartilage, Postaxial hand polydactyly, Preaxial han... OMIM:101200
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Abnormal ... ORPHA:1919
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, Congestive heart failure, ... ORPHA:49827
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Acquired Purpura Fulminans
Acrocyanosis, Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Py... ORPHA:49566
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm ORPHA:79094
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Sho... OMIM:618845
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary ... OMIM:615524
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorr... ORPHA:99828
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality of epiphysi... ORPHA:1388
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Prolidase Deficiency
Short nose, Concave nasal ridge, Diffuse telangiectasia, Thrombocytopenia, Prolonged neonatal jau... OMIM:170100
Cutaneous Small Vessel Vasculitis
Purpura, Erythema, Cutis marmorata, Vasculitis, Urticaria ORPHA:889
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Coarct... OMIM:217085
Fechtner syndrome
Abnormal bleeding, Hematuria, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:153640
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Brachydactyly, Ventricular septal de... ORPHA:1937
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Hematuria, Joint hemorrhage, Autoimmune thrombocytopenia, Gastrointestinal hemorr... ORPHA:324636
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... ORPHA:2414
Factor Xiii, B Subunit, Deficiency Of
Prolonged bleeding after surgery, Abnormal bleeding, Bruising susceptibility, Abnormal umbilical ... OMIM:613235
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Mandibular prognathia, Split foot, Triphalangeal thumb ORPHA:3434
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Pul... ORPHA:2326
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Premature bir... ORPHA:1451
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Edema, Anemia, Stage 5 chronic kidney disease, ... OMIM:603278
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Bilateral single transverse palmar c... ORPHA:1913
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Feingold Syndrome Type 1
Tricuspid atresia, 4-5 toe syndactyly, Toe syndactyly, Interrupted aortic arch, Abnormal heart mo... ORPHA:391641
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Short nose, Epistaxis, Short distal ph... OMIM:277450
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Hematuria, Gastrointestinal hemorrhage, Prolo... ORPHA:328
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle, Chronic s... ORPHA:244
Malaria
Thrombocytopenia, Acute kidney injury, Anemia ORPHA:673
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Hematuria, Gastrointestinal hemorrhage, Bleed... ORPHA:35909
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blood vessels, Erythema,... ORPHA:280779
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Abnormal bleeding, Hemolytic anemia, Angina pectoris, Cerebral artery ... ORPHA:447
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubular atrophy, Nephrotic s... OMIM:616730
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin, Hypertrophic card... ORPHA:848
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Single umbilical artery, Anemia ORPHA:3405
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Edema, Splenomegaly ORPHA:158029
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Autoimmune Hemolytic Anemia
Arrhythmia, Abnormal urinary color, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abn... ORPHA:98375
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... ORPHA:391646
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Sandal gap, Coa... OMIM:600987
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Cardiomegaly OMIM:619170
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormality of the ischium, Subconjunctival hemorrhage, Pericardial effusion... ORPHA:464329
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Small hand, Clinodactyly, Short foot, Short 5th finger OMIM:300577
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Vent... ORPHA:392
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Abnormal cardiac septum morphology, Pro... ORPHA:1200
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Purpura, Neutropenia, Thrombocytopenia, Jaundice, Pe... ORPHA:540
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Atopic dermatitis, Cerebral vasculitis, Eczema OMIM:243700
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Patent ductus arteriosus, Hypertension, Thrombocytopenia, Sideroblas... OMIM:617021
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Decreased HDL cholesterol ... OMIM:615703
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Purpura Simplex
Menorrhagia, Bruising susceptibility, Epistaxis, Purpura OMIM:179000
Gaucher Disease, Perinatal Lethal
Short nose, Purpura, Thrombocytopenia, Desquamation of skin soon after birth, Petechiae, Cardiome... OMIM:608013
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Broad thumb, Monocytosis, Lymphopenia... OMIM:612541
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Venous insufficiency, Subcutaneous hemorrhage, Skin ulcer ORPHA:743
Cranioacrofacial Syndrome
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect OMIM:122850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Cutis marmora... ORPHA:401945
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Abnormality of central retinal... ORPHA:94058
Pentasomy X
Hip dysplasia, Camptodactyly of finger, Radioulnar synostosis, Patent ductus arteriosus, Wide nas... ORPHA:11
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Hematuria, Acute kidney injury, Reticulocytosis, T... ORPHA:54057
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Finge... OMIM:617602
Congenital Sialidosis Type 2
Respiratory tract infection, Abnormal heart morphology, Polydactyly, Petechiae, Hepatosplenomegal... ORPHA:93400
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricu... ORPHA:439232
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema, Breech presentation OMIM:600972
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Distal lower limb amyotrophy, Stag... OMIM:614455
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth, Stillbirth OMIM:215045
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Arrhythmia, Decreased mean corpuscular hemoglobin concentration, P... ORPHA:231226
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Hypochromic microcytic anemia, Short nose, Ventricular septal defect, Reduced alp...