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Gene: Pdgfrb MGI:97531

Gene Summary

Name:

platelet derived growth factor receptor, beta polypeptide

Synonyms:

CD140b, Pdgfr

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Pdgfrb^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Pdgfrb^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
decreased circulating fructosamine level	Pdgfrb^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.52×10^-06
increased circulating triglyceride level	Pdgfrb^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.19×10^-05
enlarged heart	Pdgfrb^{tm1b(EUCOMM)Hmgu}	HET	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
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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Adult LacZ

LacZ Images Wholemount

22 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Auditory Brain Stem Response

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

4 Images

View 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.

Human diseases associated with Pdgfrb (7 diseases)
Human diseases predicted to be associated with Pdgfrb (2873 diseases)

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

Disease	Matching phenotypes	Source
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:1980
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-...	OMIM:601812
Kosaki Overgrowth Syndrome	Fragile skin, Depressed nasal bridge, Wide nasal bridge	OMIM:616592
Infantile Myofibromatosis	Abnormality of the kidney, Skin ulcer	ORPHA:2591
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	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	Matching phenotypes	Source
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios	OMIM:215550
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent...	ORPHA:3304
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Pallor, P...	OMIM:615631
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Fetal Parvovirus Syndrome	Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As...	ORPHA:295
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ...	OMIM:274150
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Premature birth, Hydrops fetalis, Oligohydramn...	ORPHA:1909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi...	OMIM:235400
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Spl...	ORPHA:3202
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn...	ORPHA:84090
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Transaldolase Deficiency	Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangie...	ORPHA:101028
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin...	OMIM:300845
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Patent duct...	OMIM:601927
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen...	OMIM:611773
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thrombocytopenia,...	ORPHA:2123
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restricti...	OMIM:619433
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a...	OMIM:617616
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia, Purpura	ORPHA:375
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi...	ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a...	ORPHA:1110
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ...	ORPHA:86841
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal aortic morphology, Abnormal hip...	ORPHA:1166
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrop...	ORPHA:163596
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Angina pe...	OMIM:264800
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Femoral bowing, Short lo...	OMIM:617022
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal defect, Congenital lo...	OMIM:600987
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio...	ORPHA:824
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune...	OMIM:613496
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P...	ORPHA:90064
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Clinodactyly, Brachydactyly	OMIM:233270
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ...	ORPHA:99050
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis, Hypoth...	OMIM:617577
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ...	ORPHA:849
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia, Purpura	ORPHA:3204
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Death in childhood, ...	OMIM:616457
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po...	OMIM:193235
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu...	ORPHA:90308
Tufted Angioma	Anemia, Thrombocytopenia, Petechiae, Purpura	ORPHA:1063
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre...	ORPHA:1959
Glycogen Storage Disease Vi	Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 to...	ORPHA:477817
Fetal Minoxidil Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism, Clinodactyly of ...	ORPHA:1918
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia, Proteinuria, Edema	OMIM:189800
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc...	ORPHA:520
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Truncus arteriosus, Prominent nasal bridge...	ORPHA:401935
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura	OMIM:620296
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ...	ORPHA:75564
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal...	ORPHA:1208
Fetal Gaucher Disease	Decreased fetal movement, Pancytopenia, Death in infancy, Fetal akinesia sequence, Abnormality of...	ORPHA:85212
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Single transverse palmar crease, Muscular ventricular septal defect, Hydrocele tes...	OMIM:620062
Hydrops Fetalis	Miscarriage, Abnormality of the kidney, Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Pe...	ORPHA:1041
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Retinal degeneration	OMIM:257970
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus ar...	ORPHA:261120
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jau...	ORPHA:71275
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae...	OMIM:192430
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Pallor, Poikilocytosis, Hypochromia...	OMIM:615234
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Hemochromatosis, Type 3	Cardiomyopathy, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	ORPHA:60041
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perim...	OMIM:617877
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo...	OMIM:618316
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ...	OMIM:617021
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventric...	OMIM:618804
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi...	ORPHA:327
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Hypospadias, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, ...	OMIM:618815
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism...	OMIM:179613
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Adams-Oliver Syndrome 4	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph...	OMIM:615297
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring	OMIM:603387
Complement Component 4A Deficiency	Cutaneous photosensitivity, Vasculitis, Glomerulonephritis, Purpura	OMIM:614380
Birk-Aharoni Syndrome	Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b...	OMIM:620071
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, ...	OMIM:617478
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Micrognathia, Pericardial effusion, Carious teeth, Tapered finger, Multiple m...	OMIM:620070
Microphthalmia, Syndromic 9	Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,...	OMIM:601186
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A...	ORPHA:331
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormo...	OMIM:220210
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Cutis marmorata, Epistaxis, ...	ORPHA:33226
Bernard-Soulier Syndrome	Partially duplicated kidney, Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurre...	ORPHA:274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death...	OMIM:604273
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Bardet-Biedl Syndrome 10	Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst	OMIM:615987
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Me...	ORPHA:35858
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, St...	ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy...	OMIM:619003
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte...	OMIM:161950
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Dehydration, Hemogl...	ORPHA:90038
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Sonoda Syndrome	Ventricular septal defect, High axial triradius, Depressed nasal bridge	OMIM:270460
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Acquired Purpura Fulminans	Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura...	ORPHA:49566
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Long nose, Carious teeth, Muscular ventricular septal defect, Patent ductus arte...	ORPHA:363444
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Depressed nasal bridge, Ventricular septal defect, Double outlet ri...	ORPHA:3426
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Cli...	ORPHA:2209
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava...	OMIM:613759
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Breath-Holding Spells	Iron deficiency anemia, Cyanosis, Pallor	OMIM:607578
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf...	OMIM:155100
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:860
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Thrombocytop...	OMIM:616738
Chromosome 9P Deletion Syndrome	Long toe, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular septal defect, M...	OMIM:158170
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscular volume, Eryt...	OMIM:616860
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Congenital Rubella Syndrome	Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Jaundice, Splenomegaly, Ty...	ORPHA:290
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Miscarriage, Prolonged...	ORPHA:465
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Thrombocytopenia, Hematuria, Anemia, Prolonged QTc interval, ...	ORPHA:231111
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A...	ORPHA:98826
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ...	ORPHA:217340
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Cyanosis, Premature birth, Edema, Thrombocytopenia, Leukocytosis,...	ORPHA:90051
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva...	ORPHA:79
Gray Platelet Syndrome	Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Fetal...	OMIM:620014
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Extramedullary hematopoiesis, Abnormality of thrombocytes, Epistaxis, Splenome...	OMIM:612840
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:1980
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Bruising susceptibility, Petechiae, Striae distensae, Mitral valve prolapse	OMIM:225310
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Livedoid Vasculopathy	Pancytopenia, Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Abnormal capillary...	ORPHA:542643
Developmental And Epileptic Encephalopathy 96	Death in infancy, Hydrops fetalis	OMIM:619340
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Pseudo-Torch Syndrome 1	Microretrognathia, Anteverted nares, Thrombocytopenia, Patent ductus arteriosus, Jaundice, Spleno...	OMIM:251290
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Infantile Sialic Acid Storage Disease	Premature birth, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis,...	OMIM:269920
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif...	ORPHA:464321
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Moyamoya Disease With Early-Onset Achalasia	Cutis marmorata, Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet agg...	ORPHA:401945
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, ...	OMIM:616145
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st...	ORPHA:2414
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, S...	ORPHA:91138
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increased mean corpusc...	OMIM:616689
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Ascites, Petechiae	OMIM:619463
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Edema, Autoimmune thrombocytopenia, Impai...	ORPHA:324636
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Abnormal mi...	ORPHA:1919
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Diffus...	OMIM:170100
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger,...	ORPHA:2876
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic mor...	ORPHA:1926
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Ascites, Leukopeni...	ORPHA:99828
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm	ORPHA:79094
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Pol...	ORPHA:292
Lethal Congenital Contracture Syndrome 5	Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemor...	OMIM:615368
Cutaneous Small Vessel Vasculitis	Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura	ORPHA:889
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Clinodactyly of the 5th finger, Tetralogy of Fallot, B...	ORPHA:3303
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Hypothyroidism, S...	OMIM:618569
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr...	ORPHA:54057
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Abnormal atrial arrangement, Respiratory tract infection, Atele...	ORPHA:244
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop...	OMIM:615993
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Myh9-Related Disease	Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc...	ORPHA:182050
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal cardiac septum morphology, Hip dysplasia, Abnorm...	ORPHA:2370
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aortic morphology, Anemia	ORPHA:3405
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon...	OMIM:212093
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca...	ORPHA:848
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia	OMIM:611490
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Anomalous origin of left...	ORPHA:2326
Factor Xiii, B Subunit, Deficiency Of	Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma...	OMIM:613235
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia...	ORPHA:1388
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, T...	ORPHA:251076
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ...	OMIM:249670
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Familial Hemophagocytic Lymphohistiocytosis	Petechiae, Thrombocytopenia, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Ecchy...	ORPHA:540
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial a...	ORPHA:95430
Cinca Syndrome	Premature birth, Abnormality of thrombocytes, Abnormality of neutrophils, Edema, Splenomegaly, Le...	ORPHA:1451
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc...	ORPHA:743
Boudin-Mortier Syndrome	Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ...	OMIM:619543
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Death in infancy	OMIM:608540
Sotos Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad...	OMIM:117550
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Tetralogy of Fallot	OMIM:187500
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac...	ORPHA:1937
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
Sea-Blue Histiocytosis	Abnormal bleeding, Petechiae, Edema, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
You-Hoover-Fong Syndrome	Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly	OMIM:616954
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio...	OMIM:215045
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, Transposition of the great arter...	ORPHA:1913
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing...	OMIM:619657
Feingold Syndrome Type 1	Toe syndactyly, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short t...	ORPHA:391641
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Underdeveloped nasal alae,...	ORPHA:2516
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertens...	OMIM:603278
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Pentasomy X	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S...	ORPHA:11
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re...	ORPHA:94058
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ...	OMIM:266200
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Purpura Simplex	Bruising susceptibility, Menorrhagia, Epistaxis, Purpura	OMIM:179000
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, F...	OMIM:614455
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k...	OMIM:615285
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cry...	OMIM:613730
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute...	ORPHA:3226
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Convex n...	ORPHA:1277
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Anemia	OMIM:618839
Mmep Syndrome	Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb	ORPHA:3434
Fucosidosis	Recurrent respiratory infections, Wide nose, Absent/hypoplastic paranasal sinuses, Depressed nasa...	OMIM:230000
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio...	OMIM:618835
Senior-Loken Syndrome 8	Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co...	OMIM:616307
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Aicardi-Goutieres Syndrome 1	Diabetes insipidus, Thrombocytopenia, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolong...	OMIM:225750
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Jaundi...	ORPHA:822
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Patent ductus arteriosus, P...	OMIM:617397
Intellectual Developmental Disorder, X-Linked 91	Clinodactyly, Small hand, Short foot, Short 5th finger, Cubitus valgus, Short nose	OMIM:300577
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Simple Cryoglobulinemia	Myocardial infarction, Mesangial hypercellularity, Acral ulceration, Nephritis, Membranoprolifera...	ORPHA:91139
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Thrombocyto...	OMIM:608013
Leishmaniasis	Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia...	ORPHA:507
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate...	ORPHA:1200
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent te...	OMIM:618506
Congenital Sialidosis Type 2	Respiratory tract infection, Telangiectasia, Abnormal heart morphology, Hepatosplenomegaly, Polyd...	ORPHA:93400
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Ecchymosis, Abnormal bl...	ORPHA:464329
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Hypoplastic left heart...	ORPHA:1727
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous...	ORPHA:745
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Glycogen Storage Disease Iv	Decreased fetal movement, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyop...	OMIM:232500
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Lathosterolosis	Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytosis, Schist...	OMIM:607330
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thr...	OMIM:210250
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Pulmoni...	OMIM:618205
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Left v...	OMIM:618052
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Facial ede...	OMIM:256550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Alg8-Cdg	Premature birth, Abnormality of subcutaneous fat tissue, Edema, Thrombocytopenia, Hydrops fetalis...	ORPHA:79325
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis	OMIM:614844
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti...	OMIM:277450
Microphthalmia, Syndromic 12	Ventricular septal defect, Broad nasal tip, Micrognathia, Cryptorchidism, Hypoplastic left atrium...	OMIM:615524
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Neonatal omphalitis, 3-Methylglutaconic aciduria, Neutropenia, Anemia	OMIM:619835
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc...	ORPHA:86839
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of...	OMIM:180849
Alport Syndrome	Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru...	ORPHA:63
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f...	ORPHA:508498
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth	OMIM:600972
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis	ORPHA:820
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ...	ORPHA:464343
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, ...	OMIM:603903
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Retinal degeneration, Hepatomegaly, Retinal atrophy...	ORPHA:90324
Boutonneuse Fever	Abnormal skin morphology of the palm, Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lym...	ORPHA:83313
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype...	OMIM:158900
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Alg12-Cdg	Redundant skin, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Patent...	ORPHA:79324
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Hypercalciuria, Hydrops fetalis, ...	OMIM:557000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, ...	ORPHA:371428
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricular septal def...	OMIM:608104
Free Sialic Acid Storage Disease	Proteinuria, Splenomegaly, Hydrops fetalis, Skin ulcer, Nephrotic syndrome, Ascites	ORPHA:834
Yuan-Harel-Lupski Syndrome	Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, Cl...	OMIM:616652
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90037
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy	OMIM:619302
Hyperlysinemia, Type I	Hyperlysinuria, Anemia	OMIM:238700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az...	ORPHA:300298
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy...	OMIM:619751
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Frontonasal Dysplasia 1	Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplas...	OMIM:136760
Down Syndrome	Redundant neck skin, Single transverse palmar crease, Hypoplastic iliac wing, Short palm, Atrial ...	OMIM:190685
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa...	ORPHA:980
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinod...	OMIM:620393
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:614480
Mirage Syndrome	Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidism, Patent du...	OMIM:617053
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Cutaneous photosensitivity, Anemia	OMIM:615715
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ...	ORPHA:251071
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip...	OMIM:619343
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myocarditis...	ORPHA:809
Sialidosis Type 2	Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites	ORPHA:87876
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Retinal detachment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stomatocytosis, In...	OMIM:185000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi...	ORPHA:3186
Moyamoya Disease 6 With Or Without Achalasia	Cutis marmorata, Raynaud phenomenon, Livedo reticularis, Hypertension, Ischemic stroke, Thrombocy...	OMIM:615750
Acys Amyloidosis	Death in early adulthood, Stroke, Cerebral hemorrhage	ORPHA:100008
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S...	OMIM:145420
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension, Abnormal cerebral vascular morphology, Lymphedema	OMIM:152900
Zimmermann-Laband Syndrome 3	Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Wide nas...	OMIM:618658
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Cutaneous photosensitivity, Nephriti...	OMIM:152700
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Premature birth, Cerebral hemorrhage, Leukocytosis, Hypertension, ...	OMIM:618886
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylglutaric aciduria, ...	OMIM:246450
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Lujo Hemorrhagic Fever	Shock, Lymphopenia, Renal insufficiency, Generalized edema, Excessive bleeding after a venipunctu...	ORPHA:319213
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol...	ORPHA:2330
Hadziselimovic Syndrome	Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Atr...	OMIM:612946
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Hemolytic anemia, Pallor	ORPHA:56425
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Pulmonary edema, Transient ischemic attack, Cardiomegaly, Pericardial ef...	OMIM:115197
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus ar...	OMIM:613870
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I...	ORPHA:136
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Cryptorchidism, Renal cyst, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Thrombocytopenia, Splenomegaly, Dehydration, Cardiomyopathy, Stroke, Neutrop...	ORPHA:79312
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor...	ORPHA:247691
Lymphatic Malformation 1	Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h...	OMIM:153100
Rhabdoid Tumor	Renal neoplasm, Thrombocytopenia, Hematuria, Hypertension, Internal hemorrhage, Anemia	ORPHA:69077
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi...	OMIM:612474
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,...	OMIM:612561
Hemophagocytic Lymphohistiocytosis, Familial, 4	Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia, Anemia	OMIM:603552
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Taper...	OMIM:301040
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Paten...	ORPHA:439
Orofaciodigital Syndrome Xvii	Prominent nose, Short middle phalanx of the 2nd finger, Central Y-shaped metacarpal, Partial dupl...	OMIM:617926
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Bruising susceptibility, Epistaxis, Impaired thromboxane A2 agonist-induced platelet ...	OMIM:614009
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Ventricular septal defect, Congenital diaphragmatic hernia...	ORPHA:2143
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutro...	OMIM:603585
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Edema, Anisocyto...	ORPHA:79277
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, P...	OMIM:600001
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome, Focal segment...	OMIM:607426
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Secundum atrial septal defect, Splenomegaly, Jaundice, Excessive wrinkle...	OMIM:608779
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric...	OMIM:615996
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Cutis marmorata, Arachnodactyly, Long nose, C...	OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Sandal gap, Redundant skin, Progeroid facial appearance, Micrognathia, Vascular...	OMIM:613177
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De...	ORPHA:101096
Niemann-Pick Disease, Type B	Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly...	OMIM:607616
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:612925
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Char Syndrome	Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Supernumerary nipp...	ORPHA:46627
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, Single transverse palmar crease, Broad ...	OMIM:618354
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Pulmonic ...	ORPHA:1131
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu...	ORPHA:284169
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyo...	OMIM:610717
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pallor, Thromboc...	OMIM:613839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration, Hem...	OMIM:194380
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Babesiosis	Hemolytic anemia, Renal insufficiency, Myocardial infarction, Congestive heart failure, Splenomeg...	ORPHA:108
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Cutis marmorata, Splenomegaly, Foot oligodactyly, Truncus ...	OMIM:616589
Familial Pseudohyperkalemia	Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Retinal detachment, Muscular dystrophy, Death in childhood	OMIM:613153
Abeta Amyloidosis, Dutch Type	Death in early adulthood, Stroke, Cerebral hemorrhage	ORPHA:100006
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Epidermolysis Bullosa Simplex 5A, Ogna Type	Skin fragility with non-scarring blistering, Bruising susceptibility	OMIM:131950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612926
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnorm...	OMIM:613390
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficienc...	ORPHA:99931
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions	ORPHA:99000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema	OMIM:143850
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Rocker bottom foot, Coxa valga, Cryptorchidism, P...	OMIM:301056
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Absence of the sacrum, Ventricular septal defect...	OMIM:270100
Q Fever	Pericarditis, Pericardial effusion, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Abno...	ORPHA:781
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou...	ORPHA:231222
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90033
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Verheij Syndrome	Anteverted nares, Ventricular septal defect, Broad nasal tip, Clinodactyly, Hip dislocation, Wide...	OMIM:615583
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Immunodeficiency 91 And Hyperinflammation	Death in infancy, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Ed...	OMIM:619644
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ...	ORPHA:2133
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612924
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections,...	OMIM:619487
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Decreased fetal movement, Death in infancy, Cardiac arrest, Polyhydramnios, Ac...	OMIM:618947
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia...	ORPHA:27
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Prominent nose, Micrognathia, Bulbous nose, Wide nasal bridge, Coarctatio...	OMIM:301022
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Petechiae, Poor wound healing, Cryptorchidism, Premature graying of ha...	OMIM:620331
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va...	OMIM:619142
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
C Syndrome	Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverted nares, Micromelia, Microg...	OMIM:211750
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility...	OMIM:313900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overlap...	OMIM:618142
Shigellosis	Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Dehydration, Urticaria, Hypovol...	ORPHA:810
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu...	OMIM:300855
Hellp Syndrome	Hemolytic anemia, Pulmonary edema, Proteinuria, Decreased mean corpuscular hemoglobin concentrati...	ORPHA:244242
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat...	ORPHA:2306
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, Hemophagocytosi...	ORPHA:79477
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Rift Valley Fever	Abnormal bleeding, Miscarriage, Retinitis, Hematemesis, Retinal hemorrhage, Macular edema, Retina...	ORPHA:319251
Intellectual Developmental Disorder, Autosomal Recessive 73	Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Single trans...	OMIM:619717
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Pancytopenia, Cutis marmorata, Portal hypertension, Raynaud phenomenon, Sp...	OMIM:615688
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di...	OMIM:619356
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Renal cyst	OMIM:614870
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia	OMIM:615731
Attrv30M Amyloidosis	Vitreous floaters, Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia,...	ORPHA:85447
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa...	ORPHA:69735
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodacty...	OMIM:614846
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Antev...	OMIM:616651
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ...	OMIM:618164
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U...	ORPHA:85202
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Cornelia De Lange Syndrome 2	Anteverted nares, Prominent nasal bridge, Cutis marmorata, Micrognathia, Limited elbow movement, ...	OMIM:300590
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom...	ORPHA:99827
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Nonimmune hyd...	ORPHA:137667
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Facial edema, Leukocytosis, Scaling skin, Neutro...	ORPHA:293173
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology, Mitral valve prolapse	ORPHA:90653
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Depressed nasal bridge, Apl...	ORPHA:2256
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss...	OMIM:210710
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyopathy, A...	OMIM:249270
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Abnormality of the thyroid gland, Coarctation of aort...	ORPHA:1923
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect	OMIM:253300
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:182900
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Paten...	OMIM:618974
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage...	ORPHA:284227
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy...	OMIM:612541
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Desbuquois Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Elb...	ORPHA:1425
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Underdeveloped nas...	OMIM:601355
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Atrial septal defect, Broad hallux, Cryptorchidism, Patent ductus arterios...	ORPHA:353281
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia	OMIM:243500
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ...	OMIM:614072
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger	ORPHA:2515
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndro...	ORPHA:1192
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na...	OMIM:619995
Relapsing Fever	Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice...	ORPHA:91547
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta...	OMIM:615236
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abno...	ORPHA:1666
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Precocious puberty, Acromicria, Small hand, Abnormal heart morphology, Short foot, ...	ORPHA:254525
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Lamb-Shaffer Syndrome	Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Wide nasal bridge, Clinodact...	OMIM:616803
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, ...	ORPHA:229
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy...	ORPHA:369840
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Jaundice, Ventricular septal defect	OMIM:614876
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Optic atr...	OMIM:617303
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Choroidal neovascularization, Cardiomegaly, Abnormal reti...	ORPHA:51608
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Bulbous nose, Abnormal cardiac v...	ORPHA:261311
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Orchitis, A...	ORPHA:761
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy...	OMIM:272440
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Anteverted nares, Ventricular septal defect, Tarsal synostosis, Bulbous nose, ...	OMIM:157800
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Anemic pallor, Edema, Hematochezia, Anemia	ORPHA:329971
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def...	ORPHA:1908
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Atrial septal defect, Short nose, Tetralogy of Fallot	OMIM:300887
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis	OMIM:276822
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Decreased response t...	OMIM:614114
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Gm1-Gangliosidosis, Type I	Death in infancy, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Vacuolated lymp...	OMIM:230500
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis	ORPHA:403
Complement Component 2 Deficiency	Purpura	OMIM:217000
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Anemia	OMIM:618838
Stiff Skin Syndrome	Retinal detachment, Hypertension, Nephrolithiasis	ORPHA:2833
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Dry skin, Anemia	OMIM:618116
Periventricular Nodular Heterotopia 1	Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f...	OMIM:300049
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Ventricular septal...	OMIM:618870
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Micrognathia, Pat...	ORPHA:1556
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Urticaria, Reduced natural kille...	OMIM:616050
Senior-Loken Syndrome 7	Retinal degeneration, Nephronophthisis	OMIM:613615
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Nephrolithiasis, Facial erythema, Hypertension, Ecchymosis, Bruising s...	OMIM:219090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa...	ORPHA:353277
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly...	ORPHA:83473
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Hypoplasia of teeth, Depressed nasal t...	ORPHA:88630
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated ...	OMIM:620300
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Aicardi-Goutieres Syndrome 3	Death in childhood, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu...	OMIM:612863
Charge Syndrome	Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat...	OMIM:214800
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti...	OMIM:619902
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphopenia, Purpura	ORPHA:1572
Smith-Magenis Syndrome	Retinal detachment, Abnormality of the urinary system, Abnormal renal morphology, Abnormal heart ...	OMIM:182290
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su...	OMIM:601399
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Holt-Oram Syndrome	Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology...	OMIM:142900
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Overlapping ...	ORPHA:163956
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas...	OMIM:113000
Congenital Atransferrinemia	Anemia	ORPHA:1195
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Cellular urinary ca...	ORPHA:509
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Patent ductus art...	OMIM:618961
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thr...	ORPHA:90045
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Micrognathia, Prominent nose, Short thumb, Patent ductus arteriosus, A...	OMIM:617516
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level...	ORPHA:276621
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Atria...	OMIM:201000
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Frank-Ter Haar Syndrome	Redundant neck skin, Micrognathia, Secundum atrial septal defect, Short palm, Atrial septal defec...	OMIM:249420
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri...	ORPHA:191
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Promi...	ORPHA:435638
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis	OMIM:617408
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Erythrocytosis, Familial, 2	Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein...	OMIM:263400
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec...	ORPHA:1458
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctation of aorta, ...	OMIM:620210
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Decreased response to growth hormone stimulation test, T...	ORPHA:485405
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur...	ORPHA:94080
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmune hydrop...	OMIM:620167
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Atrial...	OMIM:614886
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal...	ORPHA:969
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Premature birth, Renal salt wasting, Thrombocytopenia, Chron...	OMIM:613845
Congenital Toxoplasmosis	Premature birth, Jaundice, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micrognathia, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge, Broad hallux, C...	OMIM:620073
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, To...	ORPHA:2008
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
3C Syndrome	Recurrent respiratory infections, Finger syndactyly, Depressed nasal bridge, Ventricular septal d...	ORPHA:7
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Bulbous nose, Patent ductus arteriosus, Pulmonary sequestration, Atria...	OMIM:618330
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment	ORPHA:436182
Meningococcal Meningitis	Shock, Renal insufficiency, Stroke, Hypotension, Petechiae, Purpura	ORPHA:33475
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Micrognathia, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clino...	ORPHA:2001
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Single transverse palmar crea...	OMIM:618619
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Retrognathia, Choanal atresia, Muscular ventricular septal defect	OMIM:619227
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Mosaic Trisomy 1	Single transverse palmar crease, Finger clinodactyly, Pulmonary artery atresia, Absent distal int...	ORPHA:1692
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Retinal detachment, Optic...	ORPHA:370959
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abdominal aortic aneurys...	ORPHA:91387
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia	ORPHA:67048
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Broad nasal tip, Clino...	ORPHA:391372
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Monosomy 18Q	Mandibular prognathia, Depressed nasal bridge, Absence of the pulmonary valve, Abnormal palmar de...	ORPHA:1600
Pulmonary Hypertension, Primary, 1	Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Telangiectasia, Pulmona...	OMIM:178600
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Patent ductus arterio...	OMIM:619189
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology, Short middle...	OMIM:612626
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Hypoplastic ischia...	OMIM:613320
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Ecchymosis, Emphysema, Repeated pn...	OMIM:130050
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Renal insufficiency, Dehydration	ORPHA:28
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ...	OMIM:615994
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro...	ORPHA:86818
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Clinodactyly, Anteverted nares, Wide nasal bridge, 2-3 toe syndactyly	OMIM:619311
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A...	ORPHA:75389
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Ventricular septal defect, Single transverse palmar cre...	OMIM:617061
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Renal agenesis, Hypospadias, Nonimmune hydrops fet...	ORPHA:124
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb...	OMIM:600901
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Mal...	OMIM:615984
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic shock, Myofib...	OMIM:619424
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Talipes equinovarus, Recurrent sinusitis, Bruising susceptibility, Fr...	OMIM:130010
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly...	OMIM:620113
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec...	OMIM:619503
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Gaucher Disease, Type Ii	Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Bronchiolitis, Recurrent aspiration ...	OMIM:230900
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ...	OMIM:620080
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Metatarsus add...	ORPHA:513456
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia	ORPHA:1832
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells	OMIM:269600
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism, Jaundice, Abn...	OMIM:214110
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Intrac...	ORPHA:363618
Syndromic Diarrhea	Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp...	ORPHA:84064
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie...	OMIM:620025
Waardenburg Syndrome Type 2	Premature graying of hair, Abnormality of the pulmonary artery	ORPHA:895
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb...	OMIM:227650
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochro...	OMIM:614857
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypopla...	ORPHA:79345
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, P...	ORPHA:77259
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ...	ORPHA:398124
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio...	OMIM:601612
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Cutis marmorata, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Abnorm...	ORPHA:1708
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Recurrent in...	ORPHA:900
Specific Granule Deficiency 2	Absent neutrophil specific granules, Death in infancy, Delayed umbilical cord separation, Thrombo...	OMIM:617475
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Diabetes mellitus, Micrognathia, Secundum atrial septal defect, Prominent nose, Cl...	OMIM:620194
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Cryptorchidism, P...	ORPHA:2863
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Fibrinolytic Defect	Spontaneous hematomas	OMIM:134900
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Thrombocytopenia, Dilated card...	OMIM:611126
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, A...	ORPHA:1120
Mulibrey Nanism	Congestive heart failure, Nephroblastoma, Ascites, Hydrops fetalis	OMIM:253250
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Camptodactyly of finger, Telangiectasia of...	ORPHA:464
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ...	ORPHA:36234
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Splenic rupture, Abnormal um...	ORPHA:335
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy...	OMIM:614922
Timothy Syndrome	Ventricular septal defect, Depressed nasal bridge, Bronchitis, Cardiomegaly, Pneumonia, Hypothyro...	OMIM:601005
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Micrognathia, Long fingers, Retrognathia, Varicose...	OMIM:618343
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology...	ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Focal segmental glome...	OMIM:616239
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,...	ORPHA:171839
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test...	OMIM:618223
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd...	ORPHA:221054
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis...	ORPHA:494424
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing	OMIM:262800
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion, Cryptorchidism, Small hand, Wide nasal bridge, Broad finger, Clinodactyly, ...	OMIM:614684
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic...	ORPHA:93267
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level...	ORPHA:29072
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Atr...	OMIM:614261
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Persistent left superior vena cava, Thrombocytopenia	OMIM:619151
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp...	ORPHA:1529
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c...	OMIM:618652
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Atrial septal defec...	OMIM:309801
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect	OMIM:235750
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Choanal atresia, Micrognathia, Cryptorchidism, Pat...	OMIM:300712
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Polyhydramnios, Hypercalciuria, Nephrocalcinosis,...	OMIM:241500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Brucellosis	Pericarditis, Transient ischemic attack, Glomerulonephritis, Premature birth, Miscarriage, Hypers...	ORPHA:1304
Hemochromatosis, Neonatal	Abnormal bleeding, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septal...	OMIM:616894
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Cryptorch...	ORPHA:500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr...	OMIM:620244
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Depressed nasal bridge, Pulmonary ar...	OMIM:280000
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-...	ORPHA:3261
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Cryptorch...	ORPHA:1716
Mcleod Syndrome	Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy	OMIM:300842
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,...	OMIM:606054
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy	ORPHA:250984
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Cutis marmorata, Polydactyly, Leuk...	OMIM:602501
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Pericardial effusion, Thrombocytopenia, Splenomegaly, Hydrops fetalis,...	ORPHA:77261
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology	OMIM:604841
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Prieto Syndrome	11 pairs of ribs, Prominent nose, Coxa valga, Cryptorchidism, Talipes equinovarus, Radial deviati...	OMIM:309610
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Me...	ORPHA:79282
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome	ORPHA:69061
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ...	ORPHA:567
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal tip, Micrognathia, Sandal gap,...	OMIM:618529
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,...	OMIM:222300
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia	ORPHA:100024
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Anteverted nares, Ventricular septal defect, Fractured radius, Cardiomegaly, Microgn...	OMIM:616897
Atelis Syndrome 1	Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Bronchiectasis, Leuko...	OMIM:620184
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology, Li...	OMIM:266500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Retinal detachment, Decreased muscle mass, Arterial dissection, Congestive hea...	ORPHA:1900
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atriovent...	OMIM:264480
Omodysplasia 1	Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Incre...	OMIM:258315
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore...	ORPHA:2788
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Increased size of nasopharyn...	ORPHA:457395
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal ...	OMIM:309520
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Arterial Tortuosity Syndrome	Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Prematurely aged appearance, Arachnoda...	ORPHA:3342
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Ureteral hypoplasi...	ORPHA:79328
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, H...	OMIM:617241
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Prominent superficial veins, Depressed nasal bridge,...	OMIM:612350
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Broad nasal tip, Precocious puberty, Cryptorchidism, 2-3 toe syndactyl...	ORPHA:3306
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Proximal placement of ...	OMIM:217980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Retinal detachment, Flexion contracture, Dilated cardiomyopathy, Myocard...	OMIM:253800
Kagami-Ogata Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of ...	OMIM:608149
Spondylo-Ocular Syndrome	Retinal detachment, Ventricular septal defect, Facial hypotonia	ORPHA:85194
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Achondrogenesis	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:932
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Thrombocytopenia	OMIM:614727
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal interphalangeal j...	OMIM:300166
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Bila...	ORPHA:2409
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia	ORPHA:51208
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Premature birth, Minimal change glomerulon...	ORPHA:1830
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Anemia	ORPHA:510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Heart And Brain Malformation Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wid...	OMIM:616920
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Cryptorchidism, Bulbous nos...	OMIM:618494
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge	OMIM:314320
Filippi Syndrome	Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid...	ORPHA:3255
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte...	ORPHA:93946
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Retinal detachment, Decreased muscle mass, Abnormal heart valve morphology, Cr...	ORPHA:2953
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Patent ductus arteriosus, Dent...	OMIM:613680
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal de...	ORPHA:2257
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal...	ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Muscular dystrophy	OMIM:615181
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Absent pulmonary artery, Spl...	OMIM:600460
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrome, Focal segment...	ORPHA:347
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusi...	OMIM:212065
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac...	OMIM:121050
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Rhyns Syndrome	Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis	ORPHA:140976
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality...	ORPHA:369891
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Postural hypotension with compens...	ORPHA:85443
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Clinodactyly, Small hand, Wid...	OMIM:619980
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin, Thrombocytopenia	OMIM:612952
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren...	ORPHA:3078
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia	OMIM:610202
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Noonan Syndrome 9	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Prolonged prothrombin time, Pulm...	OMIM:616559
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, Cutaneous syndactyly, Clinodacty...	ORPHA:166024
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ...	OMIM:618021
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:613101
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Short palm, Clinodactyly, Wide nasal bridge, Broad nasal tip	ORPHA:73273
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Ogden Syndrome	Microretrognathia, Ventricular septal defect, Broad hallux, Underdeveloped nasal alae, Cryptorchi...	ORPHA:276432
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Rosaï-Dorfman Disease	Erythema, Anemia	ORPHA:158014
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Cardiac arrest, Edema, Leukocytosis, Dilated cardiomyopathy, Jaundice, Dehydration, Le...	ORPHA:20
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Pulmonary fibrosis, Gingival bl...	OMIM:203300
Takayasu Arteritis	Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Skin ulcer, Anemia, Hy...	ORPHA:3287
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Ventricular septal defect, Congenital diaphragmatic hernia...	OMIM:222448
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Joubert Syndrome 16	Retinal dystrophy, Renal cyst, Nephronophthisis	OMIM:614465
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Short thumb, Patent ductus arteriosus, Hyp...	ORPHA:1972
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Cryptorchidism, Short nose, Convex nasal ridge	ORPHA:1695
Autosomal Recessive Amelia	Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology...	ORPHA:1027
Recombinant 8 Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia...	ORPHA:96167
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Plethora, Dorsocervical fat pad, Myocardial infarc...	ORPHA:96253
Walker-Warburg Syndrome	Skeletal muscle atrophy, Retinal detachment, Hypoplasia of penis, Retinal dystrophy, Chorioretina...	ORPHA:899
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma, Anemia	ORPHA:52022
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop...	OMIM:616777
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Gingival bleeding, Nephroblastoma, Bruising susceptibility, Fragile ...	OMIM:617174
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis, Hypertensio...	OMIM:232200
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Raynaud phenomenon, Joint swelling, T lymphocytopenia, Neutropenia, ...	OMIM:607944
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Transient ischemic attack, Bilateral cryptorchidi...	OMIM:242900
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Redun...	OMIM:278250
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd...	OMIM:608572
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna...	ORPHA:96097
Primary Release Disorder Of Platelets	Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia	OMIM:176630
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Convex nasal ridge, Ventricular septal defect, Wide nasal bridge, Fifth finger distal phalanx cli...	ORPHA:3369
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Carotid ...	OMIM:618000
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Cryptorchidism, Abnormality of the elbow, Pulmonic stenosis, Hyp...	ORPHA:2701
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae	OMIM:602473
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Fryns Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Abnormal aortic arch morphology, Wide nasal bridg...	ORPHA:2059
Amme Complex	Hematuria, Elliptocytosis	OMIM:300194
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Arterial tortuosity, Pneumothorax, Re...	OMIM:614816
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pa...	ORPHA:3386
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, Patent ductus ...	OMIM:606003
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Cryptorchidism, Bulbous nose, Transposition of the great arteries, Talipe...	OMIM:616789
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Poor wound healing, Mitral valve prolapse, Bilateral talipes equinovarus, Talipes...	OMIM:615539
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar...	OMIM:611788
Achondrogenesis Type 1B	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:93298
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Anteverted nares, Overlapping toe, Underdeveloped nasal alae...	OMIM:613026
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Prominent veins on trunk, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hydrocephaly-Low Insertion Umbilicus Syndrome	Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F...	ORPHA:2184
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na...	OMIM:614613
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi...	OMIM:173900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Polyhydramnios, Splenomegaly, Jaundice, Stomatocytosis, Fetal distress	OMIM:608885
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Meckel Syndrome 13	Flexion contracture, Retinopathy, Polycystic kidney dysplasia	OMIM:617562
Cardiac-Urogenital Syndrome	Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Prolonged bleeding time, Co...	OMIM:618280
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries	ORPHA:280356
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Sandal gap, Mi...	OMIM:270450
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubul...	OMIM:251000
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising susceptibility	OMIM:614073
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Congestive heart failure, Hypertension, Glycosuria, ...	OMIM:617253
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension	ORPHA:251274
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, Bruising susceptibility, HbH hemoglobin	ORPHA:98791
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip...	OMIM:241800
Halperin-Birk Syndrome	Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Micrognathia	OMIM:618651
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin...	OMIM:308300
Joubert Syndrome 20	Retinopathy, Renal cyst	OMIM:614970
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Cutis marmorata, 2-3 toe syndactyly, ...	OMIM:613398
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme...	ORPHA:57777
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Cutis marmorata, Single transverse palmar crease, Wide nasal bridge...	OMIM:614701
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic...	ORPHA:66634
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of...	OMIM:610536
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Al-Raqad Syndrome	Atrial septal defect, Short nose, Sandal gap, Brachydactyly	OMIM:616459
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect,...	ORPHA:163979
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold	OMIM:152950
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Precocious atherosclerosis, Adrenal hypoplasia, Mitral valve prolaps...	ORPHA:230839
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Chorioretinal coloboma	OMIM:617662
Achondrogenesis Type 1A	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:93299
Suleiman-El-Hattab Syndrome	Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Single transverse...	OMIM:618950
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of ...	OMIM:609015
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Aplasia/Hypoplasia of the lungs, Malar f...	ORPHA:2145
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Vasculitis, Urticaria, Anemia	ORPHA:37748
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Progeroid facial appearance, ...	OMIM:208050
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr...	OMIM:613011
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Cutis marmorata, Cryptorchidism, Patent ductus arter...	OMIM:612938
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensio...	OMIM:212350
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Short foot	ORPHA:228399
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Micrognathi...	OMIM:619472
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno...	ORPHA:231625
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Edema, Raynaud phenomenon, Pericardial...	ORPHA:93552
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid hyperplasia	OMIM:237800
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Ventricular septal defect, Hypospadi...	ORPHA:464311
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Farber Disease	CNS foam cells, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Joint swelling, Cherry red...	ORPHA:333
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem...	OMIM:602522
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge...	OMIM:614749
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Dehydration, Leukopenia, Anemia	ORPHA:33355
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb...	OMIM:227645
Oculofaciocardiodental Syndrome	Retinal detachment, Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2...	ORPHA:2712
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metaphyseal widening, Hypo...	OMIM:614524
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Micro...	ORPHA:904
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Keipert Syndrome	Wide nose, Broad hallux, Prominent nose, Broad distal phalanx of finger, Camptodactyly, Clinodact...	OMIM:301026
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Talipes equinova...	OMIM:301039
Igg4-Related Aortitis	Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a...	ORPHA:449400
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope...	ORPHA:64743
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular...	ORPHA:369929
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Hamamy Syndrome	Hypoparathyroidism, Syndactyly, Long toe, Anteverted nares, Down-sloping shoulders, Micrognathia,...	OMIM:611174
Knobloch Syndrome	Retinal detachment, Dextrocardia, Patent ductus arteriosus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s...	ORPHA:500159
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Trichinellosis	Retinal hemorrhage, Abnormal optic nerve morphology, Facial palsy, Central retinal artery occlusion	ORPHA:863
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Fetal akinesia sequence, Congesti...	ORPHA:367
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, A...	ORPHA:264450
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, ...	OMIM:164280
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Wid...	ORPHA:250989
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites	OMIM:617049
Diabetes Insipidus, Neurohypophyseal	Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose	OMIM:125700
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Death in infancy, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Paten...	OMIM:614576
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Cryptorchidism, Spherocytosis, Patent ductus...	ORPHA:251066
Zika Virus Disease	Thrombocytopenia, Miscarriage, Subcutaneous hemorrhage, Edema	ORPHA:448237
Achondrogenesis Type 2	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:93296
Beta-Ketothiolase Deficiency	Ketonuria, Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Boomerang Dysplasia	Hydrops fetalis, Polyhydramnios	ORPHA:1263
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Under...	ORPHA:83617
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Hydrops fetalis, Polyhydramnios	OMIM:255320
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Clinodactyly of th...	OMIM:617991
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Thrombocytopenia, Death in childhood	OMIM:615597
Pierpont Syndrome	Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease...	OMIM:602342
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Phocomelia, Atr...	OMIM:274000
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Stillbirth, Aortic valve...	OMIM:615415
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Hypopigmentation of the fundus, Oligosacchariduria	ORPHA:163649
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Anemia	ORPHA:2668
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cutis marmorata, Abnormal pulmonar...	ORPHA:974
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Premature birth, B lymphocytopenia, Reduced natural killer cell count, Petechiae	OMIM:620133
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroi...	ORPHA:1667
Coffin-Siris Syndrome 6	Depressed nasal bridge, Micrognathia, Broad nasal tip, Atrial septal defect, Clinodactyly, Retrog...	OMIM:617808
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Postaxial pol...	OMIM:615503
Alg3-Cdg	Abnormality of the nose, Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnor...	ORPHA:79321
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Prominent nose, Micrognathia, Long fingers, Patent ductus ar...	OMIM:615668
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:617507
Lambotte Syndrome	Preaxial foot polydactyly, Retrognathia, Ventricular septal defect, Convex nasal ridge	OMIM:245552
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Finger syndactyly, Congenital hip dislocation, Ventricular sept...	ORPHA:217346
Autosomal Recessive Robinow Syndrome	Micrognathia, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal ...	ORPHA:1507
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym...	OMIM:300400
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventri...	ORPHA:2962
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia	OMIM:177000
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Poor w...	ORPHA:2072
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wide nasal bridge,...	ORPHA:2077
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein...	ORPHA:71273
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Clinodactyly, Wide ...	OMIM:618577
Rhiny	Short nose, Anteverted nares	OMIM:180360
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Pericardial effusion, Normochromic anemia, Bradycardia, Hypertrophi...	OMIM:618775
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, M...	ORPHA:397
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidis...	ORPHA:93328
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Atrial septal defect, Short nose, P...	OMIM:616854
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hydrops fetalis, Mucopolysacchariduria, Arteriovenous malformation, Asc...	ORPHA:584
Optic Atrophy 1	Pallor	OMIM:165500
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology	DECIPHER:52
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomenon, Angioedema...	ORPHA:3260
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Underdeveloped nasal alae, Short thumb, Metatarsus...	ORPHA:436003
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis, Patent for...	OMIM:607143
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphy...	OMIM:618618
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Distal Triplication 15Q	Arachnodactyly, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart m...	ORPHA:314588
Granulomatosis With Polyangiitis	Localized pulmonary hemorrhage, Retinal hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide...	OMIM:613604
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Death in infancy, Jaundice, Dehydration, Nephrocalcinosis, Renal tubular acido...	OMIM:208085
Digeorge Syndrome	Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot...	OMIM:188400
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Marburg Hemorrhagic Fever	Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, ...	ORPHA:99826
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ...	OMIM:304790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe...	OMIM:619769
Wilson Disease	Splenomegaly, Jaundice, Anemia, Joint swelling, Bruising susceptibility, Thrombocytopenia	ORPHA:905
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Poor wound healing, Mitral valve prolapse, Aortic root a...	OMIM:130000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Cryptorchidism, Heart murmur, Renal cyst, Horseshoe kidney, Abnormal v...	ORPHA:166035
Oculoauriculofrontonasal Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Bifid nasal tip, Underdeveloped nasal alae	ORPHA:398156
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Hematuria, Pulmonary venous hypertension, Anemia	ORPHA:90060
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Hypertrophic cardiomyopathy, Short nose	OMIM:617183
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia	OMIM:608068
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Talip...	OMIM:614815
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial po...	OMIM:311900
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdural he...	OMIM:620278
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Limb undergrowth, Neutropenia, Atri...	OMIM:618005
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Depressed nasal bridge, Anteverted nares, Perimembranous ven...	OMIM:606812
Tularemia	Tachycardia, Leukocytosis, Anemia, Pleural effusion, Thrombocytopenia	ORPHA:3392
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Death in infancy, Renal hypoplasia/aplasia	ORPHA:2481
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia	OMIM:616576
Pearson Syndrome	Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Cardiac conduction abnormality, ...	ORPHA:699
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Depressed nasal bridg...	OMIM:245150
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Recurr...	ORPHA:2970
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Bleeding Disorder In Hemophilia A Carriers	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed...	ORPHA:177926
Hereditary Coproporphyria	Dark urine, Tachycardia, Porphyrinuria, Increased urinary porphobilinogen, Nephropathy, Cutaneous...	ORPHA:79273
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Multiple muscular ventricular septal defects, Palmoplantar kera...	OMIM:615508
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Clinodactyly, Cutaneous photosens...	ORPHA:1445
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci...	OMIM:276700
C1Q Deficiency 2	Vasculitis in the skin, Anemia, Facial erythema	OMIM:620321
Campomelia, Cumming Type	Death in infancy, Multicystic kidney dysplasia, Lymphedema, Hydrops fetalis, Multiple renal cysts...	ORPHA:1318
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Thrombocytopenia, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular a...	ORPHA:2785
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P...	OMIM:228520
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Smith-Magenis Syndrome	Retinal detachment, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/...	ORPHA:819
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal...	ORPHA:476126
Lathosterolosis	Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidney, Thrombo...	ORPHA:46059
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial polydactyly,...	OMIM:617895
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Retinal fold	OMIM:221900
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi...	OMIM:619268
Menkes Disease	Intracranial hemorrhage, Death in childhood	OMIM:309400
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Shoulder dislocation, Ecchymosis, Acrocyanosis, Dislo...	ORPHA:287
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Diamond-Blackfan Anemia 1	Macrocytic anemia, Premature birth, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive...	OMIM:105650
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries	ORPHA:79085
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Short Stature With Microcephaly And Distinctive Facies	Death in infancy, Anisopoikilocytosis, Anemia	OMIM:615789
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ch...	OMIM:118450
Pelger-Huet Anomaly	Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, ...	OMIM:169400
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Abnormal heart valve morphology, Sandal gap, Poor wound healing, Recurrent shoulde...	ORPHA:230851
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Recurrent pneumonia, Camptodactyly of finger, Micrognathia	ORPHA:1495
Achondrogenesis, Type Ii	Polyhydramnios, Stillbirth, Hydrops fetalis, Edema	OMIM:200610
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H...	OMIM:610644
Kleefstra Syndrome	Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Bicuspid aort...	ORPHA:261494
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Pericardial effusion, Cl...	OMIM:617822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Lymphopenia, An...	OMIM:620365
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus arteriosus, ...	ORPHA:293939
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ...	OMIM:607823
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulinemia, Premature graying ...	ORPHA:79474
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia	OMIM:610333
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At...	OMIM:265380
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Pulmonary edema, Cardiac conduction abnormality, Ede...	ORPHA:466677
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Neurogenic bladder, Acanthocytosis	ORPHA:96180
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Patent ...	OMIM:617159
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Robinow Syndrome	Micrognathia, Atrial septal defect, Syndactyly, Depressed nasal bridge, Anteverted nares, Persist...	ORPHA:97360
Fanconi Anemia, Complementation Group F	Polyhydramnios, Placental abruption, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:603467
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Renal Hypoplasia, Bilateral	Proteinuria, Premature birth, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypo...	ORPHA:97362
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental enamel morphology, Patent duc...	ORPHA:2092
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Depressed nasal bridge, A...	ORPHA:1327
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Single transverse palmar crease, Micrognathia, Hypopl...	ORPHA:96334
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob...	ORPHA:363705
Stickler Syndrome, Type I	Retinal detachment, Mitral valve prolapse, Vitreoretinopathy, Membranous vitreous appearance, Ret...	OMIM:108300
Castleman Disease	Renal insufficiency, Thrombocytopenia, Jaundice, Hematuria, Decreased mean corpuscular volume, An...	ORPHA:160
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertriglyceridemia	OMIM:608600
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Increased nuchal translucency, Fetal intraventricular hemorrhage, Premature birth, Oligohydramnios	OMIM:618480
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Underdeve...	ORPHA:447980
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Short femur, Toe syndactyly, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Duplication of...	OMIM:243310
Trisomy 13	Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Hydrops fetalis, Multiple re...	ORPHA:3378
Hemochromatosis, Type 2B	Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy	OMIM:613313
Perlman Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Hyperinsulinemia, Wide nasal bridge, Abnormal pan...	ORPHA:2849
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short ...	OMIM:601559
X Small Rings	Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Tapered finge...	ORPHA:96201
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Kanzaki Disease	Telangiectasia of the oral mucosa, Depressed nasal bridge, Lip telangiectasia, Angiokeratoma corp...	OMIM:609242
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa...	OMIM:241310
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport...	ORPHA:79124
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de...	OMIM:300998
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu...	OMIM:617667
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, Micrognathia, Long...	ORPHA:52
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Lipemia retinalis, Nephrolithiasis, Hypertension, Focal ...	OMIM:232220
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Com...	OMIM:617925
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Bilateral single transverse palmar cr...	OMIM:244300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Ulnar deviation of t...	OMIM:618162
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Pallor, Neutropenia, Vesicouretera...	OMIM:609053
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Depressed nasal bridge, Anteverted nares, Repeated pneumothor...	ORPHA:536467
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil...	ORPHA:99901
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Clinodactyly of the 5...	OMIM:618067
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Omenn Syndrome	Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Nephrotic syndrome, Desquamation of sk...	ORPHA:39041
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Anuria, Edema, Myocarditis, Leukocytosis, Thrombocytopenia, Oliguria, Hypertens...	ORPHA:544482
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Polyhydramnios, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal...	OMIM:300990
Lambert Syndrome	Malar flattening, Jaundice, Ventricular septal defect	ORPHA:1296
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr...	OMIM:618454
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Cutis marmorata, ...	ORPHA:727
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Clinodactyly, Wide nasal bridge, Retrognathia, Str...	ORPHA:557003
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Mu...	OMIM:216360
Trisomy 1Q	Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Pate...	ORPHA:261344
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi...	OMIM:236500
Hepatoerythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Red urine, R...	ORPHA:95159
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Hermansky-Pudlak Syndrome 11	Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind...	OMIM:619172
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment	ORPHA:1856
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Hypercholesterolemia, Decreased testicu...	OMIM:616222
Moebius Syndrome	Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Hypogonadotro...	OMIM:157900
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Crypt...	ORPHA:85279
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal defect, Malar f...	ORPHA:79113
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, ...	OMIM:244450
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Dehydration, Neutropenia, Anemia	OMIM:251110
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose,...	OMIM:201170
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb...	OMIM:227646
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia	OMIM:614520
Glycogen Storage Disease Ixc	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Bile duct proliferation	OMIM:613027
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Atopic dermatitis, Disseminated molluscum c...	OMIM:243700
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcif...	OMIM:208060
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Micrognathia, Pro...	OMIM:610759
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe...	OMIM:614609
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, H...	OMIM:617729
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Muckle-Wells Syndrome	Splenomegaly, Vasculitis, Urticaria, Nephrotic syndrome, Renal amyloidosis, Nephropathy, Anemia	ORPHA:575
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Abnormal cardi...	OMIM:608776
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decrea...	OMIM:615947
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst	OMIM:605231
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Prominent nasal bridge, Camptodactyly of finger, Wide na...	OMIM:148820
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Toriello-Carey Syndrome	Micrognathia, Cryptorchidism, Patent ductus arteriosus, Clinodactyly, Coarctation of aorta, Cardi...	ORPHA:3338
Noonan Syndrome 13	Anteverted nares, Overlapping toe, Micrognathia, Tapered finger, Cryptorchidism, Metatarsus adduc...	OMIM:619087
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Asplenia, Cryptorchidism, Patent ductus art...	ORPHA:99776
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left heart, Aplasi...	OMIM:301043
Opsismodysplasia	Recurrent respiratory infections, Depressed nasal bridge, Tapered finger, Splenomegaly, Squared i...	ORPHA:2746
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di...	ORPHA:90068
Gaucher Disease, Type Iii	Vascular calcification, Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Diamond-Blackfan Anemia 7	Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundu...	OMIM:612562
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial appearance, Prema...	OMIM:123700
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme...	ORPHA:508488
Retinoblastoma	Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ...	ORPHA:790
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum...	OMIM:617752
17P13.3 Microduplication Syndrome	Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Short nose	ORPHA:217385
Meester-Loeys Syndrome	Arachnodactyly, Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aort...	OMIM:300989
Acute Radiation Syndrome	Abnormal bleeding, Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymph...	ORPHA:454831
Gaucher Disease	Abnormal bleeding, Death in infancy, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, C...	ORPHA:355
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Scapular winging, Ventricular septal defect, Prominent nasal...	OMIM:615582
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple...	OMIM:256540
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Delayed puberty, Anemia, Micrognathia	ORPHA:2598
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Ventricular septal defect, Pr...	ORPHA:505237
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Phacoanaphylactic Uveitis	Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore...	ORPHA:209959
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly	OMIM:619013
Pagod Syndrome	Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m...	ORPHA:991
Osteogenesis Imperfecta, Type I	Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Bruising suscep...	OMIM:166200
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Short nose, Postaxial hand polydactyly	ORPHA:1389
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Anteverted nares, Bulbous nose, Patent ductus arteriosus, Wide nasal b...	OMIM:220500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Wide na...	OMIM:619383
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n...	ORPHA:1895
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Depressed nasal bridg...	ORPHA:90652
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, M...	OMIM:175050
Ververi-Brady Syndrome	Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Cl...	OMIM:617982
6P22 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Patent ductus arteriosus, Redundant skin	ORPHA:251046
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atheroscleros...	ORPHA:650
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Distal arthrogryposis, Optic atrophy	OMIM:619833
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Stt3B-Cdg	Cryptorchidism, Micropenis, Thrombocytopenia	ORPHA:370924
Agel Amyloidosis	Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Cardiomyopa...	ORPHA:85448
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Arachnodactyly, Cryptorchidism, Pneumothorax, Mitral valve prolapse, Short col...	OMIM:601776
Idiopathic Uveal Effusion Syndrome	Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Joubert Syndrome 7	Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia	ORPHA:1514
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Large hands, Camptodactyly, Clinodactyly	OMIM:618786
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Pfeiffer Syndrome	Mandibular prognathia, Shortening of all middle phalanges of the fingers, Syndactyly, Finger synd...	OMIM:101600
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vasculitis, Ja...	ORPHA:2331
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu...	OMIM:214500
Chylomicron Retention Disease	Acanthocytosis	ORPHA:71
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
15Q24 Microdeletion Syndrome	Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hormone stimulation ...	ORPHA:94065
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Anemia, Aminoaciduria, Death in childhood, Thrombocytopenia	OMIM:614946
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Abnormality of the urinary system, Moyamoya phenomenon	ORPHA:401986
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Hyper...	OMIM:610733
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s...	OMIM:615355
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop...	OMIM:308240
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Tapered finger, Down-sloping ...	OMIM:617452
Distal Deletion 10Q	Prominent fingertip pads, Scapular winging, Sandal gap, Prominent nasal bridge, Single transverse...	ORPHA:96148
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal...	ORPHA:394
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, ...	OMIM:613544
Meckel Syndrome, Type 8	Pericardial effusion, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Short nose	OMIM:613885
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt...	ORPHA:363528
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Abnormal cardiac sept...	ORPHA:96147
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema	OMIM:223350
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Ventricular septal de...	ORPHA:261330
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal nasal...	ORPHA:404440
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Wide nose, Ventricular septal defect, Prominent nasal bridge, Broad ha...	ORPHA:251028
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Micrognathia, Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, ...	ORPHA:536532
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Atrial septal defect, Depressed nasal bridge, Antevert...	OMIM:613458
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange...	OMIM:615550
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo...	ORPHA:1335
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Delayed puberty, Hypertrophic...	ORPHA:496790
Tarp Syndrome	Finger syndactyly, Cyanosis, Anteverted nares, Extramedullary hematopoiesis, Single transverse pa...	ORPHA:2886
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Glucagonoma	Gastrointestinal hemorrhage, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice...	ORPHA:97280
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Depr...	OMIM:264090
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B...	ORPHA:1465
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Overlapping fingers, Ventricular septal defect, Antever...	ORPHA:464738
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Micrognathia, Recurrent pneumonia, Abnormal heart morph...	ORPHA:314655
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Patent ...	OMIM:300514
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Erythema,...	OMIM:610015
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Small hand, Short foot, Brach...	OMIM:617450
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma...	ORPHA:158684
Adenohypophysitis	Orthostatic hypotension, Hyposthenuria, Pallor, Normochromic anemia	ORPHA:95512
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Ventricular septal defect, Depressed nasal bridge, Rocker bottom foot, Patent ductus a...	OMIM:612582
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Decreased fetal movement, Subdural hemorrhage, Polyhydramnios	OMIM:618291
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Gm1 Gangliosidosis	Premature birth, Congestive heart failure, Splenomegaly, Patent ductus arteriosus, Hydrops fetali...	ORPHA:354
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve, Cryptorchidism, Clinodactyly of the 5th finger, Clinodactyly, Decreased te...	OMIM:300997
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Small hand, Sh...	ORPHA:254531
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Duodenal Atresia	Annular pancreas, Abnormality of the pulmonary artery	ORPHA:1203
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arte...	ORPHA:79329
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Pulmonic stenosis, Camptodacty...	OMIM:619123
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal cerebral vascular morphology, Pulmonary...	ORPHA:3205
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Abnorma...	ORPHA:3121
Nance-Horan Syndrome	Retinal detachment	ORPHA:627
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Diabetes mellitus, Anteverted nares, Dorsocervical fat pad, Down-sloping shoulders, Mi...	ORPHA:391408
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, Intestin...	OMIM:226300
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Cryptorchidism,...	OMIM:134780
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Atrial septal d...	OMIM:235510
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect	OMIM:616816
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Nephrotic syndrome, Pallor, Arrhythmia	ORPHA:3099
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Cubitu...	OMIM:605275
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n...	ORPHA:177907
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytopenia, Methylma...	OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension	OMIM:619064
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, B lymp...	OMIM:150550
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi...	ORPHA:2438
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo...	ORPHA:1988
Chops Syndrome	Anteverted nares, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomega...	OMIM:616368
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Rod-cone dystro...	OMIM:618161
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter...	OMIM:301030
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Anemia, Cutaneous photosensitivity, Scaling skin...	OMIM:620370
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myop...	OMIM:212140
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte...	ORPHA:157965
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, N...	OMIM:608612
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub...	OMIM:620067
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hand polydactyly, Pulmon...	OMIM:314390
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Immunodeficiency 97 With Autoinflammation	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25...	OMIM:619802
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism...	ORPHA:329224
Cooper-Jabs Syndrome	Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Missing ribs, Camptodac...	ORPHA:1488
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Clinodactyly of t...	OMIM:619736
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia	OMIM:112200
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept...	OMIM:302950
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae	ORPHA:357175
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi...	ORPHA:457193
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ...	OMIM:601808
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of...	ORPHA:3047
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly	ORPHA:500166
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent duct...	ORPHA:1519
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis	OMIM:618265
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the...	OMIM:615630
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
Feingold Syndrome	Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormalit...	ORPHA:1305
Megalocornea	Retinal detachment	OMIM:309300
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio...	OMIM:153400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Retinal detachment	OMIM:609616
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Urinary glyco...	ORPHA:79255
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries	OMIM:604367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Male hypogonadism, Hypertriglyceridemia, Cryptorchidism	OMIM:615381
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ...	OMIM:609942
Panhypophysitis	Orthostatic hypotension, Hyposthenuria, Pallor, Normochromic anemia	ORPHA:95513
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Premature graying of hair, Excessive wrinkled skin, Anemia, Thromb...	ORPHA:3322
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Tetralogy of Fallot, Genu valgum	ORPHA:1381
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Abnormal concentration of ac...	ORPHA:391428
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares	ORPHA:531
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Depressed nasal bridge, Patent ductus arteriosus, Clinodactyly, Wide nasal bridge, Hepatosplenome...	ORPHA:397709
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Vertebrobasilar dolichoectasia, Retinal detachment, Nephrolithiasis, Abnormality of the kidney	ORPHA:521445
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Cryptorchid...	OMIM:600325
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Joubert Syndrome 14	Ventricular septal defect, Morning glory anomaly, Optic atrophy, Renal cyst, Intracranial hemorrh...	OMIM:614424
Aspergillosis	Intracranial hemorrhage, Pleural effusion, Stroke, Abnormality of the kidney	ORPHA:1163
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar...	ORPHA:36426
Pediatric-Onset Graves Disease	Atrial fibrillation, Premature birth, Congestive heart failure, Splenomegaly, Jaundice, Neutropen...	ORPHA:525731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arterio...	OMIM:106260
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Immunodeficiency 22	Pericarditis, Thrombocytopenia, Capillary leak, Decreased proportion of CD4-positive helper T cel...	OMIM:615758
Cholesteryl Ester Storage Disease	Death in infancy, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, S...	OMIM:278000
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose	OMIM:618437
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia, Jaundice	OMIM:301015
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries	ORPHA:435651
Coffin-Siris Syndrome 7	Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de...	OMIM:618027
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-...	OMIM:601812
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia	ORPHA:2772
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Cutis marmorata, Micrognathia, Telan...	ORPHA:109
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Wide nasal bri...	OMIM:222765
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arachnodactyly, Arterial tortuosity, Micrognathia, Descending thoracic aor...	OMIM:609192
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell...	ORPHA:2255
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Jacobsen Syndrome	Long hallux, Broad columella, Broad hallux phalanx, Finger syndactyly, Anteverted nares, Cryptorc...	ORPHA:2308
Parkes Weber Syndrome	Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Subarac...	ORPHA:90307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-...	OMIM:250410
Macs Syndrome	Prolonged bleeding time, Brachydactyly, Dilation of Virchow-Robin spaces, Hypergonadotropic hypog...	OMIM:613075
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Patent ductus arteriosus, Choanal stenosis, A...	ORPHA:1790
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum...	OMIM:618901
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Crisponi/Cold-Induced Sweating Syndrome 2	Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly	OMIM:610313
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic a...	ORPHA:514
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,...	ORPHA:508533
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Proteus-Like Syndrome	Splenomegaly, Retinal detachment, Venous insufficiency, Polycystic ovaries	ORPHA:2969
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm...	ORPHA:247598
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t...	ORPHA:537
Hennekam Syndrome	Lymphopenia, Lymphedema, Pericardial effusion, Ectopic kidney, Splenomegaly, Pulmonary lymphangie...	ORPHA:2136
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Brittle Cornea Syndrome	Retinal detachment, Mitral valve prolapse, Pulmonic stenosis, Camptodactyly, Bruising susceptibility	ORPHA:90354
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae	OMIM:615162
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Flattened epiphy...	OMIM:607131
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Paten...	OMIM:617751
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Erythrocyte cylindru...	OMIM:233450
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl...	OMIM:613443
Immunodeficiency 9	Ectodermal dysplasia, Hypoplasia of the thymus, Amelogenesis imperfecta	OMIM:612782
Vogt-Koyanagi-Harada Disease	Retinal detachment	ORPHA:3437
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ...	OMIM:614753
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the...	ORPHA:66628
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Leukocytosis, Hematochezia, Ascites, Anemia	ORPHA:2070
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Optic nerve hypopl...	OMIM:614643
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Erythema, Depressed nasal ridg...	ORPHA:3474
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Membranoproliferative glomerulonephritis, Proteinuria, Glo...	ORPHA:48435
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypopl...	OMIM:249620
Peters Plus Syndrome	Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodact...	ORPHA:709
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Atrial septal defect, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Hyposp...	OMIM:614866
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Hypoplasia of the zygomatic b...	ORPHA:1295
Dentinogenesis Imperfecta	Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliterat...	ORPHA:49042
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Arterial rupture	ORPHA:300179
Holocarboxylase Synthetase Deficiency	Organic aciduria, Desquamation of skin soon after birth, Thrombocytopenia	ORPHA:79242
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Cystathioninuria, Thrombocytopenia, Patent ductus arteriosus,...	OMIM:277380
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Micrognathia	ORPHA:452
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycardia, Pallor, D...	ORPHA:91355
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, B...	OMIM:608328
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreati...	OMIM:235255
Emanuel Syndrome	Broad jaw, Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Vent...	OMIM:609029
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri...	OMIM:616430
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	ORPHA:363400
Cysticercosis	Calcification of muscles, Retinal detachment, Abnormal optic chiasm morphology, Abnormal skeletal...	ORPHA:1560
Bazex Syndrome	Anemia, Scaling skin, Edema	ORPHA:166113
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Pneumonia, Anteverted nares, Micrognathia, Bronchiectasis, T l...	OMIM:242860
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval...	OMIM:616028
Rin2 Syndrome	Brachydactyly, Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Bruising susceptib...	ORPHA:217335
Radio-Tartaglia Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr...	OMIM:619312
X-Linked Agammaglobulinemia	Thrombocytopenia, Skin ulcer, Anemia, Neutropenia	ORPHA:47
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl...	OMIM:232400
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypertension, Hypotension, Decreased urinary potassium	OMIM:611489
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Premature birth	ORPHA:447788
Necrotizing Enterocolitis	Shock, Premature birth, Edema, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Ascites, Thro...	ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Aminoaciduria, Prolonged pro...	OMIM:619055
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Mandibular prognathia, Hallux valgus, Swan neck-like deformities of the fingers, Prominent nasal ...	OMIM:619880
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Bowing of the legs, Cryptorchidism, Metaphys...	OMIM:617164
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia	OMIM:619699
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Marshall Syndrome	Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hy...	OMIM:154780
Zygomycosis	Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Renal insufficiency, Epistaxis, He...	ORPHA:73263
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the...	ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Leukopenia, Pr...	OMIM:603553
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ...	OMIM:613038
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Micro...	OMIM:615656
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy	ORPHA:2348
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Coarctation of aorta, Bifid nose, Foot polydactyly, Shor...	ORPHA:268249
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri...	OMIM:615812
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Cyanosis, Short hallux, ...	ORPHA:3309
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Anteverted nares, Splenomegaly, Bulbous nose, Clinodactyly, Talipes eq...	OMIM:616354
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna...	OMIM:619909
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Johnson Neuroectodermal Syndrome	Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Hand polydactyl...	ORPHA:2316
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Micrognathia, B...	OMIM:613457
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Decreased fetal movement, Polyhydramnios, Congestive heart failure, Dehydratio...	OMIM:616271
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Micrognathia, Crypt...	OMIM:247200
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation	OMIM:619083
Lysinuric Protein Intolerance	Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Cutis laxa, Leukopenia, Aminoacid...	OMIM:222700
Lig4 Syndrome	Pancytopenia, Cryptorchidism, Telangiectasia, Acute lymphoblastic leukemia, Micropenis, Cutaneous...	OMIM:606593
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Nephrotic syndrome,...	OMIM:251300
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Lymphopenia, Plethora, Dorsocervical fat pad, Myocardial infarc...	ORPHA:99889
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension	ORPHA:95613
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis	ORPHA:88618
Retinitis Pigmentosa 51	Pallor, Abnormality of the kidney	OMIM:613464
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, S...	ORPHA:1914
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Situs inversus totalis, Sp...	OMIM:208540
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Micrognathia, Taper...	ORPHA:444072
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Recurrent bronchopulmonary infec...	OMIM:604173
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, B...	OMIM:602398
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret...	ORPHA:52055
Nicolaides-Baraitser Syndrome	Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan...	OMIM:601358
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound he...	OMIM:130060
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septa...	ORPHA:251014
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Premature g...	OMIM:613990
Bohring-Opitz Syndrome	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Me...	OMIM:605039
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal ble...	ORPHA:167
Geleophysic Dysplasia 1	Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Lack ...	OMIM:231050
Vexas Syndrome	Macrocytic anemia, Arteritis, Thrombocytopenia	OMIM:301054
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona...	OMIM:611812
Treacher-Collins Syndrome	Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cryp...	ORPHA:861
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Sudden ca...	OMIM:201475
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Jaundice, Pedal edema, Premature graying of hair, Leuko...	ORPHA:381
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Respiratory tract infection, Hypoplasia of the maxilla, Long fingers, Wide nasal ...	OMIM:218000
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy	OMIM:614702
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Hypertrophic...	ORPHA:79083
Craniofacial Microsomia 1	Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Par...	OMIM:164210
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Felty Syndrome	Recurrent urinary tract infections, Pericarditis, Thrombocytopenia, Splenomegaly, Neutropenia, Ab...	ORPHA:47612
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Patent ductus ar...	ORPHA:2473
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Hydrops fetalis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Ascites	OMIM:614091
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Edema, Hematemesis, Pericardial effusion, Thrombocytopenia, Vascu...	OMIM:615846
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv...	OMIM:616564
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske...	OMIM:300280
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Finger clinodactyly, Renal artery ste...	OMIM:602531
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Broad nasal tip, Tapered finger, Short toe, Wide nasal bridge, Abnormal he...	OMIM:239300
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat...	OMIM:300472
Al Kaissi Syndrome	Depressed nasal bridge, Broad nasal tip, Small hand, Wide nasal bridge, Deep palmar crease, Atria...	OMIM:617694
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,...	OMIM:166250
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hyper...	ORPHA:110
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Aged leonine appearance, Abnormal...	ORPHA:167635
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Splenomegaly, Hydrops fetalis, Dermatan sulfate excretion in ...	OMIM:253220
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Ventricular septal defect, Polycystic ovaries, Large hands, Short columella, Broad...	ORPHA:1770
Chikungunya	Abnormal bleeding, Epistaxis, Cervical lymphadenopathy, Erythema, Lymphadenopathy, Gingival bleed...	ORPHA:324625
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Patent ductus ar...	OMIM:617506
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Erythema, Large vess...	ORPHA:728
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Recurrent respiratory infections, Hip contracture, Flexion contracture of ...	OMIM:193700
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Rock...	OMIM:619762
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at...	OMIM:301044
Desmosterolosis	Depressed nasal bridge, Micromelia, Abnormality of the nose, Micrognathia, Splenomegaly, Patent d...	ORPHA:35107
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Arterial tortuosity, Microg...	OMIM:614437
Abetalipoproteinemia	Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Prolonged prothromb...	ORPHA:14
Avian Influenza	Lymphopenia, Miscarriage, Congestive heart failure, Leukopenia, Pleural effusion, Acute kidney in...	ORPHA:454836
Kleefstra Syndrome 1	Mandibular prognathia, Recurrent respiratory infections, Natal tooth, Anteverted nares, Single tr...	OMIM:610253
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment	ORPHA:3218
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Carious teeth, Clinodactyly, 4-...	OMIM:164200
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin...	ORPHA:30
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Degenerative vitreoretinopathy	ORPHA:1427
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa...	ORPHA:2083
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma	OMIM:615145
Holoprosencephaly 14	Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right...	OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Conge...	OMIM:236670
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Thrombocytopenia, Enuresis, Renal Fanconi syndrome, Proximal tubu...	OMIM:619743
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial septal defect, P...	OMIM:139210
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Death in infancy, Ureteral duplication, Renal insufficiency, Long-...	OMIM:608836
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Ventricular septal defect, Choanal atresia, Aplasia/Hypoplasia of the pate...	OMIM:617063
Kniest Dysplasia	Retinal detachment, Hip contracture	OMIM:156550
Citrullinemia Type Ii	Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia...	ORPHA:247585
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Micrognathia, Underde...	OMIM:269880
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Knobloch Syndrome 1	Duplicated collecting system, Retinal detachment, Optic disc pallor, Renal duplication, Patent du...	OMIM:267750
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow...	OMIM:108720
Mevalonic Aciduria	Normocytic hypoplastic anemia, Edema, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, H...	OMIM:610377
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Cryp...	ORPHA:96092
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Cohen Syndrome	Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Arachnodactyly, Micrognathi...	ORPHA:193
Craniofacial Dyssynostosis With Short Stature	Malar flattening, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism	OMIM:218350
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Telangiectasia of the skin, Depressed nasal br...	OMIM:616007
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, S...	OMIM:618571
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Micrognathia	OMIM:243440
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Abnormal optic chiasm morphology, Retinal detachment, Recurrent urinary tra...	ORPHA:268261
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Renal cyst, Proximal tubulopathy, Death in childhood, Lymphangie...	OMIM:602579
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Anteverted n...	ORPHA:254346
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Anemia of inadequate production, Pallor, Hypotension, Macroorchidism	ORPHA:91349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,...	ORPHA:2847
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Dry skin, Throm...	ORPHA:31150
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Micrognathia	OMIM:300934
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Proteus Syndrome	Splenomegaly, Venous malformation	OMIM:176920
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Cryptorchidism, Small hand, H...	ORPHA:1786
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Spatulate thumbs, Elbow disl...	OMIM:150250
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Cryptorchidism, Slender nose, Short nose, Micrognathia	OMIM:615419
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem...	OMIM:175780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Depressed nasal bridge, Micrognathia	OMIM:616901
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Clinodacty...	OMIM:616331
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Trisomy 12P	Supernumerary nipple, Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finge...	ORPHA:1699
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c...	ORPHA:261290
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Thyroid carcinom...	ORPHA:210548
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr...	ORPHA:555877
Kapur-Toriello Syndrome	Patent ductus arteriosus, Bulbous nose, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Urinary incontinence, Cardiomegal...	OMIM:268800
Solitary Rectal Ulcer Syndrome	Hematochezia, Anemia	ORPHA:209964
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Maternal diabetes, Pan...	ORPHA:280200
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Doors Syndrome	Adrenal hyperplasia, Abnormal finger morphology, Aspiration pneumonia, Triphalangeal thumb, Clino...	ORPHA:79500
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persistence of hemoglob...	OMIM:260400
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Metatarsus valgus, Camptodac...	ORPHA:261236
Takenouchi-Kosaki Syndrome	Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Tapered finger, Cry...	OMIM:616737
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Polyhydramnios	ORPHA:85166
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm...	ORPHA:436252
Marshall-Smith Syndrome	Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Choanal stenosis, Aspiration...	OMIM:602535
Schaaf-Yang Syndrome	Mandibular prognathia, Rocker bottom foot, Tapered finger, Cryptorchidism, Small hand, Narrow pal...	OMIM:615547
Achondrogenesis, Type Ia	Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu...	OMIM:200600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness	ORPHA:1865
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Depressed nasal bridge, Anteverted nares, Maturity-onset diabetes of the young, Microg...	ORPHA:96184
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu...	ORPHA:42
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul...	OMIM:600373
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertensi...	ORPHA:536
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Anemia, Premature graying of hair, Intestinal bleeding, Gastrointestinal ...	OMIM:612199
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Zellweger Syndrome	Hepatomegaly, Death in infancy, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, ...	ORPHA:912
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta...	OMIM:616202
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Cerebral edema	ORPHA:83601
Pallister-Hall Syndrome	Adrenal hypoplasia, Depressed nasal ridge, Abnormal lung lobation, Gonadotropin deficiency, Atria...	ORPHA:672
Porphyria Variegata	Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u...	ORPHA:79473
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula...	OMIM:163950
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Myoglobinuria, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,...	ORPHA:391487
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Micrognathia	OMIM:607598
Marfan Syndrome	Aortic regurgitation, Retinal detachment, Decreased muscle mass, Tricuspid regurgitation, Bicuspi...	OMIM:154700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Micrognathia, Choanal stenosis, Atrial septal defect, Hypothyroi...	OMIM:620186
Degcags Syndrome	Polyhydramnios, Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficienc...	OMIM:619488
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Ventricular septal defect, Foot oligodactyly, Amelia	OMIM:601357
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose	ORPHA:1702
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos...	OMIM:617718
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha...	OMIM:232300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Portal hypertension, Hepatosplenomegaly	ORPHA:210136
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Telangiectasia	OMIM:219250
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Premature graying of h...	OMIM:613989
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Marfan Syndrome	Retinal detachment, Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure...	ORPHA:558
Fetal Alcohol Syndrome	Atrial septal defect, Short nose, Anteverted nares, Micrognathia	ORPHA:1915
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Pulmonary artery stenosis, Pallor, Pulmonary arterial hypertension, Bruising suscep...	ORPHA:667
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Renal Fanconi syndrome, Pallor, Glycosuria	ORPHA:263455
Eiken Syndrome	Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Clinodactyly, ...	OMIM:600002
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism...	OMIM:619859
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V...	ORPHA:568051
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo...	OMIM:184250
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Anteverted n...	OMIM:147791
Sting-Associated Vasculopathy, Infantile-Onset	Cutis marmorata, Raynaud phenomenon, Erythema, Livedo reticularis, Telangiectasia, Leukopenia, Th...	OMIM:615934
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent...	ORPHA:141127
Joubert Syndrome 39	Retinal dystrophy, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney...	OMIM:619562
Emanuel Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Broad jaw, Redundant neck skin, Trun...	ORPHA:96170
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Glutaric acidu...	ORPHA:26791
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Diamond-Blackfan Anemia 21	Aortic regurgitation, Cutis marmorata, Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Prolonged neonatal jaundice, Clinod...	OMIM:618828
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Premature graying of hair, Leukopenia, Increased mean corpuscu...	OMIM:127550
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Atelis Syndrome 2	Single transverse palmar crease, Prominent nose, Micrognathia, Thrombocytopenia, Patent ductus ar...	OMIM:620185
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect...	OMIM:236680
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Supernumerary ...	OMIM:100300
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, Micrognathia, Long fingers, Abnormal cardiac ventricle morphology, Wide...	ORPHA:284979
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Weill-Marchesani Syndrome 1	Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter...	OMIM:277600
Noonan Syndrome 14	Lymphopenia, Scapular winging, Prominent nasal bridge, Cryptorchidism, Clinodactyly, Mitral valve...	OMIM:619745
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Periorbital edema, B lymphocytopenia, Decreased proportion of memory B c...	OMIM:618048
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Congenital hip dislocation, Bowing of the long bones, Redundant skin...	OMIM:612940
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Genu varum, Depressed nasal ...	OMIM:271510
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Choanal atresia, Micrognathia, Patent ductus arteri...	OMIM:613309
Koolen-De Vries Syndrome	Prominent fingertip pads, Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defec...	OMIM:610443
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Aase-Smith Syndrome I	Slender finger, Ventricular septal defect, Talipes equinovarus	OMIM:147800
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Microg...	ORPHA:1234
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Bruising susceptibility, Calcaneovalgus deformity, Mitral valve prolapse	OMIM:225320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Hydrocele testi...	OMIM:614080
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Wide nasal...	OMIM:613603
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cranioectodermal Dysplasia 2	Renal insufficiency, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Ren...	OMIM:613610
Cat Eye Syndrome	Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef...	OMIM:115470
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Shwachman-Diamond Syndrome 2	Normocytic anemia, Death in infancy, Neutropenia, Prolonged prothrombin time, Death in childhood,...	OMIM:617941
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Ventricular septal defect, Broad nasal tip, Micrognathia, Pancreatic lymphan...	ORPHA:1655
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Flexion contractu...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Id	Depressed nasal bridge, Long fingers, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Clino...	OMIM:601110
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Micrognathia, Long ...	OMIM:618336
Ctcf-Related Neurodevelopmental Disorder	Prominent fingertip pads, Broad hallux phalanx, Anteverted nares, Single transverse palmar crease...	ORPHA:363611
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Retinal detachment, Congestive heart failure, Arterial rupture, Blad...	OMIM:225400
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventricular septal defect, Vascular dilatation	OMIM:219730
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth...	OMIM:615866
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Abnor...	ORPHA:494344
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma	OMIM:180200
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly	OMIM:300928
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased response to growth...	OMIM:614732
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Retrognathia, Slender long bone, Sho...	ORPHA:561
Angioosteohypotrophic Syndrome	Venous malformation, Prominent superficial veins, Telangiectasia of the skin, Edema	ORPHA:75508
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple	OMIM:617635
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Postaxial po...	OMIM:619879
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Pers...	OMIM:200990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Brachydactyly, Anteverted nares, Proportionate shortening of all digits, Taper...	ORPHA:280633
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Cutaneous leiomyosarcoma, Renal cyst	OMIM:135150
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Underdeveloped nasal alae, Abnormal c...	ORPHA:2315
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Calf muscle...	OMIM:618733
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Cryptorchidism, Gi...	OMIM:611209
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal...	OMIM:232240
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath...	OMIM:603554
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Subvalvular aort...	OMIM:613001
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Costello Syndrome	Ventricular septal defect, Depressed nasal bridge, Redundant skin, Abnormal dental enamel morphol...	ORPHA:3071
Marshall Syndrome	Retinal detachment, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:560
Ruijs-Aalfs Syndrome	Prominent nasal bridge, Single transverse palmar crease, Micrognathia, Down-sloping shoulders, Bu...	OMIM:616200
Loeys-Dietz Syndrome	Abnormal bleeding, Striae distensae, Arachnodactyly, Camptodactyly of finger, Arterial tortuosity...	ORPHA:60030
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent foramen ovale, ...	OMIM:256520
Ellis Van Creveld Syndrome	Micromelia, Conical incisor, Atrial septal defect, Emphysema, Atrioventricular canal defect, Syno...	ORPHA:289
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Acroosteolysis of distal phalan...	ORPHA:90154
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ve...	OMIM:617713
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl...	ORPHA:457279
Cystic Echinococcosis	Hepatomegaly, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Membranous n...	ORPHA:400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Short nose, Clinodactyly	OMIM:618087
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog...	OMIM:618748
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Myopathic Ehlers-Danlos Syndrome	Pallor, Poor wound healing	ORPHA:536516
Spinocerebellar Ataxia 47	Clinodactyly, Small hand, Wide nasal bridge, Tapered finger	OMIM:617931
Dysbetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL choles...	ORPHA:412
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Long fingers, Coronar...	OMIM:614294
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduri...	OMIM:619259
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,...	ORPHA:98853
Aneurysm-Osteoarthritis Syndrome	Striae distensae, Arterial dissection, Arachnodactyly, Protrusio acetabuli, Osteoarthritis of the...	ORPHA:284984
Hemophilia A	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage	OMIM:306700
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Polycystic kidney dysplasia, Congenital diaphragmatic hernia, Abnormal heart...	OMIM:263210
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial septal defect, Right atrial enl...	OMIM:615219
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha...	OMIM:215140
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency	OMIM:619120
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re...	OMIM:618460
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Bruising susceptibility, Poor wound healing, Dermal translucency	OMIM:619115
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Cl...	ORPHA:65286
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom...	OMIM:614921
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone...	OMIM:610978
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Anteverted nares, Short proximal phalanx of the 2nd fin...	ORPHA:261323
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia, Va...	OMIM:617107
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Anemia	OMIM:620366
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Sebo...	OMIM:300868
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Wolman Disease	Anemia, Splenomegaly, Ascites, Bone-marrow foam cells	ORPHA:75233
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Dilated cardiomyopathy, Elevated circulating creatine ki...	ORPHA:98855
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma	ORPHA:2031
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Delayed menarche, ...	OMIM:151100
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Breech presentation, Hypochromic microcytic anemia, Ane...	ORPHA:440713
Tuberous Sclerosis Complex	Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ...	ORPHA:805
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Alstrom Syndrome	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy...	OMIM:203800
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Spondyloocular Syndrome	Retinal detachment, Unilateral cryptorchidism, Mitral valve prolapse, Atrial septal defect, Dyspl...	OMIM:605822
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Wide nasal ...	OMIM:617360
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11...	ORPHA:90795
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst	OMIM:611134
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
King-Denborough Syndrome	Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Low hanging...	OMIM:619542
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ...	ORPHA:209902
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan...	OMIM:614976
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Recurrent urinary tract infections, Anemia	ORPHA:169105
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Bowing of the a...	OMIM:269860
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Esophageal Atresia	Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Choanal atresia, Bronchiti...	ORPHA:1199
Wilson Disease	Hemolytic anemia, Hyperphosphaturia, Proteinuria, Edema, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:277900
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,...	OMIM:617883
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Depressed nasal bridge, Anteverted nares, Dental mal...	OMIM:612921
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Supernumera...	OMIM:612530
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, Short tibia, Atrio...	ORPHA:2751
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Dravet Syndrome	Cyanotic episode, Pallor	ORPHA:33069
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Micrognathia	OMIM:615042
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Atrial septal defect, Mesocardia, D...	ORPHA:2044
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin...	OMIM:616723
Schilbach-Rott Syndrome	Micrognathia, Long nose, Prominent nose, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous synda...	OMIM:164220
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding	ORPHA:352723
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Retinal hamart...	OMIM:613254
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cryptorchidism, Patent ductus art...	OMIM:130720
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi...	OMIM:258480
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Renal cyst, Cardiac rhabdomyoma, Achromatic retinal patches, Rena...	OMIM:191100
Rabson-Mendenhall Syndrome	Mandibular prognathia, Fasting hyperinsulinemia, Premature graying of hair, Atrial septal defect,...	ORPHA:769
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Au-Kline Syndrome	Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal...	OMIM:616580
15Q14 Microdeletion Syndrome	Atrial septal defect, Convex nasal ridge, Ventricular septal defect, Prominent nasal bridge	ORPHA:261190
Serkal Syndrome	Abnormality of the adrenal glands, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic sten...	ORPHA:139466
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Redundant skin, Micrognathia, Atrial septal defect,...	OMIM:612289
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose, Patent foramen ovale	OMIM:619179
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren...	OMIM:220110
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Diabetes mellitus, Female hypogonadism, Bronchiectasis, A...	OMIM:208900
H Syndrome	Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Upper ey...	ORPHA:168569
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Macrocephaly/Autism Syndrome	Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Cutis laxa, Hydrocele tes...	OMIM:605309
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Orofaciodigital Syndrome V	Recurrent respiratory infections, Unilateral cryptorchidism, Ventricular septal defect, Sandal ga...	OMIM:174300
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Eleva...	ORPHA:98863
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Poor wound ...	ORPHA:536545
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un...	OMIM:615485
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Proteinuria, Epistaxis, Chronic neutropenia, Prolonged bleeding following proc...	ORPHA:79259
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Decreased response to growt...	OMIM:213980
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose	OMIM:612563
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Kikuchi-Fujimoto Disease	Palpebral edema, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Erythema, Leukopenia, V...	ORPHA:50918
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy...	ORPHA:324
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation...	ORPHA:2804
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly	OMIM:619092
Axial Osteomalacia	Myopathy, Renal cyst	OMIM:109130
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Short metacarpal, Hypoplastic sacrum, Rhizomelia, Diabetes mellitus, Brach...	OMIM:614813
Phelan-Mcdermid Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bulbous nose, Dental malocclus...	OMIM:606232
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Redundant skin, Abnorm...	ORPHA:1340
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, 11 pairs of ribs, Broad toe, Hyperthyroidism, Ventricular septal defect, D...	ORPHA:488632
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Partial absence of toe, Anteverted nares, Patent ductus art...	ORPHA:955
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Abnormality of ...	ORPHA:261552
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose, Macroorchidism	OMIM:300143
Meckel Syndrome, Type 1	Adrenal hypoplasia, Micrognathia, Asplenia, Accessory spleen, Syndactyly, Cryptorchidism, Patent ...	OMIM:249000
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial s...	OMIM:312870
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Death in infancy, Tricuspid regurgitation, Splenomegaly, Cut...	OMIM:300972
Trisomy 10P	Absent gallbladder, Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of t...	ORPHA:171929
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina...	OMIM:612109
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ri...	OMIM:156200
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Cog4-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Oslam Syndrome	Anemia	OMIM:165660
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Short nose	ORPHA:1920
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,...	OMIM:618430
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple, Sandal gap, Cryp...	ORPHA:1812
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:264580
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Vitreoretinopathy	OMIM:183900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Ventricular septal defect, Anteverted nares, Adrenal hypoplasia, Micrognathi...	OMIM:214100
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Congestive heart failure, Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca...	OMIM:618183
Overlap Myositis	Abnormality of the kidney, Raynaud phenomenon, Hypertension, Leukopenia, Pulmonary arterial hyper...	ORPHA:206572
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose	OMIM:616420
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Methylmalonic aciduria, Skin rash, Unilateral renal agenesis	ORPHA:79284
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short foot, Deep pal...	ORPHA:363659
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Clinodactyly, Dental malocclusion, Wide n...	OMIM:618727
Acquired Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cardiomyopathy, Abnormal circulating lipi...	ORPHA:79086
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Bulbous nose, Transposition of the great arteries, T...	ORPHA:1780
Peho Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:260565
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Choanal atresia, Facial wrinkling, Micrognathia, Prominent nose, Crypto...	OMIM:305450
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Clinodactyly, Decreased testicular ...	OMIM:614838
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Rod-cone dystrophy	OMIM:601539
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t...	OMIM:614700
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Carotid artery tortuosity, Striae distensae, Micrognathia, Vertebral ...	OMIM:619329
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Death in infancy	OMIM:614862
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Dehydration, Anemia, Sync...	ORPHA:230
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Abnormality of the ...	ORPHA:487796
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:620250
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Clinodactyly of the 5th finger, Atrial septal ...	ORPHA:373
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst,...	ORPHA:1834
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Miscarriage, Thrombocytopenia	ORPHA:96181
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep...	OMIM:614207
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, De...	OMIM:616835
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Death in ch...	OMIM:619005
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Abnormality of ...	ORPHA:261537
Primary Intestinal Lymphangiectasia	Lymphopenia, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lympha...	ORPHA:90362
Ehlers-Danlos Syndrome, Classic-Like	Poor wound healing, Unilateral renal agenesis, Vesicoureteral reflux, Bruising susceptibility, St...	OMIM:606408
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Down Syndrome	Brachydactyly, Depressed nasal bridge, Prematurely aged appearance, Sandal gap, Abnormality of th...	ORPHA:870
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, Erythema, Splenomegaly, ...	ORPHA:32960
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Recurrent respiratory infections, Pancytopenia, Choanal atresia, Hashimoto thyroid...	OMIM:613385
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short sternum,...	OMIM:257300
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T...	OMIM:253270
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Thrombocytopenia, Myoglobinur...	ORPHA:94093
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Cryptorchidism, Single transverse palmar crease, Prominent nasal bridge	ORPHA:178148
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Lymphedema	ORPHA:33276
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases	OMIM:611936
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ...	OMIM:614105
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Ren...	OMIM:208500
Trisomy 18	Microretrognathia, Ventricular septal defect, Choanal atresia, Camptodactyly of finger, Cryptorch...	ORPHA:3380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes...	ORPHA:444077
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Micrognathia, ...	OMIM:115150
Sandifer Syndrome	Hematemesis, Anemia	ORPHA:71272
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode...	OMIM:105210
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
Fanconi Anemia, Complementation Group R	Pelvic kidney, Anemia	OMIM:617244
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum...	ORPHA:59315
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ventricular septal defect	ORPHA:2345
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Recurrent lower respiratory tract infections, ...	OMIM:617802
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Macroglossia, Retinal dysp...	OMIM:213300
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis...	OMIM:243910
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Femoral bowing, Narro...	ORPHA:83
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bul...	OMIM:609460
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Bulbous nose, Hypoplasia of the radius...	ORPHA:140952
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp...	ORPHA:2461
Yellow Fever	Abnormal bleeding, Shock, Renal insufficiency, Anuria, Neutrophilia, Supraventricular arrhythmia,...	ORPHA:99829
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ...	ORPHA:261250
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst, Camptodactyly	OMIM:614175
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalange...	ORPHA:544503
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short hallux, Single transverse palmar crease, Hypoplas...	OMIM:608156
Holoprosencephaly	Abnormality of the spleen, Depressed nasal ridge, Absent nares, Aplasia/Hypoplasia involving the ...	ORPHA:2162
Geleophysic Dysplasia 2	Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Short foot, Cone-shaped epiphysis, Ao...	OMIM:614185
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Horseshoe kidney, Pelvic kidney, Anemia	OMIM:613951
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Underdeveloped nasal alae, Carious teeth, Pancreatic cysts, Supern...	OMIM:311200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Portal hypertension, Splenomegaly, Jaundice, Generalized aminoaciduria, Ascites, Thrombocytopenia	OMIM:251880
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Underdeveloped nasal alae, Hypoplasia of the ...	OMIM:263650
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Prominent nasal bridge, Prominent nose, Tapered finger, Camptodactyly, Cli...	OMIM:619576
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptor...	ORPHA:2745
X-Linked Ehlers-Danlos Syndrome	Bruising susceptibility	ORPHA:75497
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Thrombocytopenia	OMIM:613987
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Narrow pelvis bone, Ha...	OMIM:608022
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Concave nasal ridge, Hy...	ORPHA:73272
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Phocomeli...	OMIM:122470
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch...	ORPHA:2879
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Anteverted nares, Bo...	OMIM:272460
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Dyskeratosis Congenita	Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Urethral ...	ORPHA:1775
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, Retrognathia, 2-3 toe syndactyly	OMIM:617352
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism, Clinodactyly, Dy...	ORPHA:1724
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Single transverse palmar crease, Ventricular septal defect, Recurrent aspiratio...	ORPHA:79243
Fanconi Anemia, Complementation Group N	Short thumb, Aplastic anemia, Ventricular septal defect	OMIM:610832
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly	ORPHA:3004
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Toe syndactyly, Ventricular septal defect, Wide nasal r...	ORPHA:459070
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol...	ORPHA:666
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment	ORPHA:94068
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Deep palmar...	OMIM:616638
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Micrognathia,...	OMIM:300373
Perlman Syndrome	Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bridge, Pancreatic islet-cell hy...	OMIM:267000
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ...	ORPHA:464306
Ring Chromosome 12 Syndrome	Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, Sympha...	ORPHA:1439
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Hypoparathyroidism, Micromelia, Adducted thumb, Abnormal circulating calcium-ph...	ORPHA:50810
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Pterygium Colli, Isolated	Short nose	OMIM:177990
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Cutaneous photosensitivity, Pink urine, Thro...	OMIM:263700
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:615102
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Recurrent pneumonia...	OMIM:616449
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Flexion contracture, Optic atrophy, Renal cortical cysts	OMIM:609180
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnor...	ORPHA:2075
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect, Anteverted nares, Talipes equinovarus	OMIM:614961
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Persiste...	OMIM:617052
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:261197
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Neonatal omphalitis...	OMIM:615895
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous...	OMIM:619103
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A...	ORPHA:79452
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Atrial septal defect, Advanced...	ORPHA:818
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Ectrodactyly, Delayed pu...	OMIM:147950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Atrial septal defect,...	OMIM:619522
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Pallor	ORPHA:348
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect, Short columella, Anteverted nares	OMIM:615879
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi...	OMIM:257920
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl...	OMIM:235730
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Redundant skin, Carious teeth, Cutis laxa, Excessiv...	OMIM:219200
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas...	OMIM:608670
Adiposis Dolorosa	Xerostomia, Bruising susceptibility, Telangiectasia of the skin, Dry skin	ORPHA:36397
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Single transverse palmar crease, Broad nasal tip, Mic...	ORPHA:96121
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Fanconi Anemia	Leukopenia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Azoospermia, Abnormal carotid ...	ORPHA:84
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundice, Hip dysplasia, Right ventric...	OMIM:613404
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly	OMIM:618089
Hajdu-Cheney Syndrome	Wide nose, Ventricular septal defect, Anteverted nares, Micrognathia, Absent frontal sinuses, Cry...	OMIM:102500
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites, Anemia	ORPHA:139411
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Hypoplastic aortic arch, Hip dysplasia, Cl...	ORPHA:457284
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormality of th...	ORPHA:79430
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Proximal placement of t...	OMIM:212066
Tetrasomy 9P	Micrognathia, Clinodactyly of the 5th finger, Patent foramen ovale, Amelogenesis imperfecta, Bila...	ORPHA:3310
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide...	ORPHA:453499
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertr...	OMIM:151660
Alveolar Echinococcosis	Abnormal pericardium morphology, Portal hypertension, Abnormal bladder morphology, Pancreatic cys...	ORPHA:284
20P13 Microdeletion Syndrome	Finger syndactyly, Prominent nasal bridge, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Deeah Syndrome	Decreased hemoglobin concentration, Death in infancy, Decreased heart rate variability, Polyhydra...	OMIM:619004
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidis...	ORPHA:2241
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Dilated ca...	OMIM:616541
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila...	OMIM:108145
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Tricuspid valve p...	ORPHA:96129
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Pyoderma gangrenosum,...	ORPHA:3243
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Erythema, Xerostomia, Stage 5 chroni...	ORPHA:90340
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Myopathy With Extrapyramidal Signs	Leukocytosis, Splenomegaly, Ventricular septal defect, Anteverted nares	OMIM:615673
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ...	OMIM:608091
Dubowitz Syndrome	Hypospadias, Cutis marmorata, Abnormality of neutrophils, Thrombocytopenia, Cryptorchidism, Acute...	ORPHA:235
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c...	ORPHA:2869
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy...	ORPHA:280365
Lysinuric Protein Intolerance	Abnormal bleeding, Proteinuria, Glomerulonephritis, Ornithinuria, Thrombocytopenia, Argininuria, ...	ORPHA:470
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Oliguria, Dry skin, ST segment depre...	ORPHA:466650
Hardikar Syndrome	Premature rupture of membranes, Vesicoureteral reflux, Bladder exstrophy, Portal hypertension, Pa...	OMIM:301068
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Cardiomega...	ORPHA:96191
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Wide nasal bridge, Camptodactyly of toe	ORPHA:251038
Spondyloepiphyseal Dysplasia Tarda	Retinal detachment	ORPHA:93284
Charge Syndrome	Aortic arch aneurysm, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypogon...	ORPHA:138
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Childhood Absence Epilepsy	Pallor, Urinary incontinence	ORPHA:64280
Turnpenny-Fry Syndrome	Mandibular prognathia, Recurrent respiratory infections, Overlapping toe, Tapered finger, Long fi...	OMIM:618371
Von Willebrand Disease	Venous insufficiency, Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Coarctati...	ORPHA:17
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Nonspherocytic he...	OMIM:611881
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithia...	OMIM:130650
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Short ...	OMIM:268305
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis...	ORPHA:369837
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Odontochondrodysplasia 1	Death in infancy, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Caroli Syndrome	Abnormal bleeding, Abnormality of the kidney, Portal hypertension, Hematemesis, Hypersplenism, Le...	ORPHA:480520
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Tricuspid regurgitation, Hydrops fetalis, Polycystic kidney dysplasia	OMIM:263520
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Polydactyly, Atr...	OMIM:619869
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Short humerus, Brachydactyly, Bicuspid aortic valve, Anteverted...	OMIM:218330
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Single transverse palmar crease,...	ORPHA:1449
Monosomy 22	Finger syndactyly, Wide nose, Aplasia of the thymus, Single transverse palmar crease, Clubbing, H...	ORPHA:96123
Fetal Hydantoin Syndrome	Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Short nose, Short distal phalanx of f...	ORPHA:1912
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Depressed nasal bridge, Micrognathia, Hypop...	OMIM:615546
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Bulbous n...	OMIM:309500
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Prominent fing...	OMIM:615873
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Leukocytosis, Pleural empyema, Constrictive pericarditis, Pleural effus...	ORPHA:67
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Anemia	ORPHA:99688
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Werner Syndrome	Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c	OMIM:277700
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atr...	OMIM:259775
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Hepatomegaly, Ureteral duplication, Retinal dystrophy, Pancreatic cysts, Stage 5...	OMIM:266920
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormal verte...	ORPHA:247245
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Precocious atherosclerosis, Jaundice, ...	ORPHA:275761
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism...	OMIM:620005
Fraser Syndrome 2	Wide nose, Hypoplasia of the thymus, Cutaneous syndactyly, Underdeveloped nasal alae	OMIM:617666
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Hyperlipidemia	ORPHA:369
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr...	OMIM:180700
Pitt-Hopkins Syndrome	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	OMIM:610954
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Cerebral edema, Intracranial he...	ORPHA:90062
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lun...	OMIM:270400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ...	OMIM:143095
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Cardiomyo...	ORPHA:98907
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Hammertoe, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:275900
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy	ORPHA:552
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr...	OMIM:602450
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Prolonged prothrombin time, Renal cyst	ORPHA:79303
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Spontaneous neonatal pneumothorax, Micrognathia, Short toe, Gingival bleeding, Re...	OMIM:225410
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Wide nose, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin...	ORPHA:261337
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural...	OMIM:620369
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus...	OMIM:227330
Bardet-Biedl Syndrome 12	Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia, Hydroureter	OMIM:615989
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Left ventricular noncompaction car...	OMIM:300967
Ivic Syndrome	Leukocytosis, Arrhythmia, Thrombocytopenia	ORPHA:2307
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polyhydramnios, Hydrops fetalis, Polycystic kidney dysplasia	OMIM:616546
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Ventricular septal defect, Sandal gap, Carious teeth, Small hand, 2-3 ...	OMIM:619229
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Short nose, Facial telangiectasia	OMIM:615851
Tetrasomy 18P	Large hands, Short nose	ORPHA:3307
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Gapo Syndrome	Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, Re...	OMIM:230740
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Knobloch Syndrome 2	Retinal detachment, Patent ductus arteriosus, Vitreoretinopathy, Vitreous floaters	OMIM:618458
Ayme-Gripp Syndrome	Mandibular prognathia, Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, R...	OMIM:601088
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, S...	OMIM:216340
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary...	OMIM:614008
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Atrial septal defect, Clinodactyly of the ...	ORPHA:199
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ...	OMIM:617641
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a...	ORPHA:2396
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cutaneo...	OMIM:178110
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Depressed nasal bridge	OMIM:618325
Aymé-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Pericardial effusion, C...	ORPHA:1272
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the...	OMIM:135500
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Dextroca...	ORPHA:1662
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip, Dry skin	OMIM:619306
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Micrognathia, Bulbous nose, ...	ORPHA:247262
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Short humerus, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, S...	ORPHA:959
Okamoto Syndrome	Redundant neck skin, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Underde...	ORPHA:2729
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Clinodactyly, Wide nasal bridge	OMIM:620316
Gomez-Lopez-Hernandez Syndrome	Malar flattening, Short nose, Anteverted nares, Decreased response to growth hormone stimulation ...	OMIM:601853
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Right atrial enlargement, Pulmonary arterial hypertension, Tricuspid regurgitation, Mitral valve ...	OMIM:620233
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia	OMIM:239200
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Splenomegal...	ORPHA:1454
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atr...	ORPHA:538
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Multiple pulmonary cysts, Accessory spleen, Ventricular septal defect, Depress...	OMIM:619418
Waardenburg Syndrome Type 1	Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Premature graying of hair, S...	ORPHA:894
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r...	OMIM:192350
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Malar flattening, Clinodactyl...	ORPHA:357001
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares	ORPHA:884
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Orofaciodigital Syndrome Type 5	Ectopic accessory finger-like appendage, Supernumerary tooth, Postaxial hand polydactyly, Postaxi...	ORPHA:2919
Mogs-Cdg	Generalized edema, Polyhydramnios, Edema, Hepatosplenomegaly, Hydrocele testis, Thrombocytopenia,...	ORPHA:79330
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger...	ORPHA:1358
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogonadotropic h...	OMIM:176270
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Micrognathia, Cryptorchidism, Patent ductus a...	ORPHA:2282
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Hypospadias, Hydrops fetalis, Cryptorchidism	OMIM:265000
Niemann-Pick Disease Type C	Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegal...	ORPHA:646
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ...	ORPHA:1791
Cogan Syndrome	Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia	ORPHA:1467
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Arachnodactyly, Poor wound healing, Gingival bleeding, Palmoplantar ...	OMIM:130080
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Hepatosple...	ORPHA:444490
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Renal lymphocytic tubulitis, Choroidal neovascu...	ORPHA:91500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Decreased response to growth hormone stimulation te...	ORPHA:96182
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin...	ORPHA:2753
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Optic nerve hypopl...	ORPHA:261349
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Irida Syndrome	Pallor	ORPHA:209981
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ...	OMIM:601353
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Short nose, Decreased testicular size, Micrognathia	OMIM:614222
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia,...	ORPHA:2131
Proteus Syndrome	Abnormality of retinal pigmentation, Decreased muscle mass, Sudden cardiac death, Pulmonary embol...	ORPHA:744
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Micrognathia, O...	OMIM:613884
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Limb Body Wall Complex	Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Ap...	ORPHA:2369
Beck-Fahrner Syndrome	Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Micrognathia, Prominent nos...	OMIM:300895
Williams-Beuren Syndrome	Bicuspid aortic valve, Premature graying of hair, Early onset of sexual maturation, Atrial septal...	OMIM:194050
Aicardi Syndrome	Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy	OMIM:304050
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Overlapping toe, Splenomegaly, Patent ductus arteriosus, Bulbous nose,...	OMIM:618268
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial...	OMIM:304120
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr...	OMIM:620024
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Blepharocheilodontic Syndrome 1	Clinodactyly, Choanal atresia, Cutaneous syndactyly	OMIM:119580
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Branchiootorenal Syndrome 1	Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy...	OMIM:113650
Van Maldergem Syndrome 1	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal...	OMIM:601390
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Elevated urinary norep...	ORPHA:653
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Recurrent respiratory infections, Short nose, Dental malocclusion, Micrognathia	ORPHA:329178
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Increased urinary cortisol level	ORPHA:199244
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Prominent nasal bridge, Micrognathia, Ectodermal dysplasia, Radial deviation of finger, Malar fla...	OMIM:609944
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Nephrolithiasis, Hypertension,...	ORPHA:189427
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V...	ORPHA:209905
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2-4 finger syndactyl...	OMIM:107480
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Depressed nasal bridge, ...	OMIM:617140
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee flexion contracture, Atrial s...	ORPHA:85201
Trichohepatoenteric Syndrome 1	Wide nose, Anteverted nares, Ventricular septal defect, Increased mean platelet volume, Avascular...	OMIM:222470
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:261144
Multiple Myeloma	Splenomegaly, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Pleural effusion, Acut...	ORPHA:29073
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Patent ductus arteriosus, Cuti...	OMIM:614557
Whim Syndrome	Lymphopenia, Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recur...	ORPHA:51636
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Cryptorchidism, Short nose, Clinodactyly of the 4th toe,...	OMIM:614225
Dpagt1-Cdg	Prolonged QT interval, Decreased fetal movement, Fetal akinesia sequence, Stroke-like episode, In...	ORPHA:86309
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, T l...	OMIM:251260
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante...	OMIM:303600
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Hyper...	OMIM:268300
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Prolonged bleeding time, Angulated humerus, Bowing of the long bones, Rhizomel...	OMIM:616229
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Atrial septal def...	OMIM:616268
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Skin ulcer, Cryptorchidism, P...	ORPHA:534
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Ve...	OMIM:269700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Stickler Syndrome	Skeletal muscle atrophy, Retinal detachment, Abnormal vitreous humor morphology, Mitral valve pro...	ORPHA:828
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Cutaneous photosensi...	ORPHA:647
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Ventricular septal...	OMIM:117650
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Micrognathia, Cryptorchidism, Preax...	ORPHA:261318
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Diabetes mellitus, Abnormality of the pulmonary vascula...	ORPHA:33001
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Fryns Syndrome	Microretrognathia, Prominent fingertip pads, Ectopic pancreatic tissue, Ventricular septal defect...	OMIM:229850
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Hematochezia...	OMIM:619575
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Ventricular se...	OMIM:606170
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Broad hallux, Deviation of the hallux, Bilateral cr...	ORPHA:434179
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Micrognathia, Talipes equinovarus, Chylothorax	OMIM:619036
Atelosteogenesis Type I	Multiple renal cysts, Retinal dysplasia	ORPHA:1190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Precocious puberty, Cryptorchidi...	OMIM:616682
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion contracture...	ORPHA:581
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy	OMIM:615636
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Cryptorch...	OMIM:616975
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Anterior p...	ORPHA:466791
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Metatarsus adductus, Small hand, Scapular muscle atrophy, Hip dysplasia, Talipe...	OMIM:181405
Spinocerebellar Ataxia-Dysmorphism Syndrome	Cubitus valgus, Slender long bone, Short nose, Anteverted nares	ORPHA:1185
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin	OMIM:615830
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short...	OMIM:615803
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly	OMIM:620306
Diets-Jongmans Syndrome	Ventricular septal defect, Broad nasal tip, Cryptorchidism, Interrupted inferior vena cava with a...	OMIM:618846
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia	OMIM:607361
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Clinodactyly,...	OMIM:613406
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose, Micrognathia	OMIM:266810
Peho Syndrome	Recurrent respiratory infections, Anteverted nares, Tapered finger, Malar flattening, Short nose	ORPHA:2836
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Abnormal cardiac ventricular function, Eosinophilia, Porta...	ORPHA:797
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypogonadism, Genu valgum	ORPHA:2983
Bohring-Opitz Syndrome	Retinal atrophy, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Optic atrop...	ORPHA:97297
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension, Bruising susceptibility, Striae distensae	OMIM:610489
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper...	OMIM:613159
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic...	ORPHA:521426
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Cryptorchidism, Ur...	OMIM:305000
Congenital Myopathy 17	Mandibular prognathia, Overlapping toe, Tapered finger, Respiratory tract infection, Dental maloc...	OMIM:618975
Aicardi-Goutières Syndrome	Cutis marmorata, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Calcification of the a...	ORPHA:51
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Kabuki Syndrome 1	Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect...	OMIM:147920
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Long fi...	OMIM:617527
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Elbow dislocation, Patellar aplasia, Irr...	OMIM:613805
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Bruising susceptibility, Striae distensae	OMIM:219080
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Fucosidosis	Hepatomegaly, Decreased muscle mass, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Occipital Horn Syndrome	Venous insufficiency, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the ...	ORPHA:198
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy, Cryptorchidism	ORPHA:3301
Micro Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Delayed puberty, Short nose	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Ventricular septal defect, Sandal gap, Broad nasal tip, Long fingers, Recu...	OMIM:620330
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cardiom...	OMIM:608594
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Broad columella...	ORPHA:2152
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Bruising susceptibility, Fragile skin, Breech presentation	OMIM:617821
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Pne...	OMIM:102700
Cadds	Short nose, Adrenal hypoplasia, Micrognathia	ORPHA:369942
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev...	ORPHA:352665
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation	OMIM:612918
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Bruising susceptibility, Striae distensae	OMIM:610475
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis...	ORPHA:49
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Schinzel-Giedion Syndrome	Micrognathia, Tibial bowing, Choanal stenosis, Myeloid leukemia, Streak ovary, Overlapping finger...	ORPHA:798
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hermansky-Pudlak Syndrome 8	Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble...	OMIM:614077
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Atrial septal defect, Clino...	OMIM:607872
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries	OMIM:313850
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia	OMIM:619774
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Varicose veins, Nephri...	OMIM:314300
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Anemia	ORPHA:44890
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Broad ischia, Wide nasal brid...	OMIM:619727
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri...	ORPHA:90041
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney ...	OMIM:610199
Coffin-Siris Syndrome 1	Single transverse palmar crease, Prominent interphalangeal joints, Atrial septal defect, Prominen...	OMIM:135900
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of fing...	ORPHA:1606
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Dilated cardiomyopathy, Acanthocytosis	ORPHA:2388
Juvenile Polyposis Syndrome	Hematochezia, Anemia	OMIM:174900
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a...	ORPHA:35125
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Cryptorchidism, Malar flattening	ORPHA:2789
Trichothiodystrophy	Ventricular septal defect, Prematurely aged appearance, Hypoplasia of mandible relative to maxill...	ORPHA:33364
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Mpdu1-Cdg	Optic atrophy, Renal cortical cysts	ORPHA:79323
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Abnor...	ORPHA:1052
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardiomyopathy, Atr...	ORPHA:26793
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Chronic kidney disease, Dry skin, Syncope, ...	ORPHA:642
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Atrial septal defect, Promi...	ORPHA:522077
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter...	ORPHA:116
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test...	ORPHA:319182
Arachnoid Cyst	Urinary bladder sphincter dysfunction, Urinary incontinence, Subarachnoid hemorrhage	ORPHA:2356
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Cutis marmorata	OMIM:613735
Liver Disease, Severe Congenital	Dermal translucency, Recurrent urinary tract infections, Hypospadias, Splenomegaly, Jaundice, Pat...	OMIM:619991
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hepatomegaly, Hyperlipidemia	ORPHA:1414
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, Polysplenia, E...	OMIM:200995
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma, Congenital diaphragmati...	ORPHA:1001
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth	OMIM:616300
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Depressed nasal bridge, Anteverted ...	OMIM:218040
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Von Hippel-Lindau Syndrome	Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Reti...	OMIM:193300
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Brachydactyly, B...	OMIM:617157
Trichothiodystrophy 1, Photosensitive	Retrognathia, Telangiectasia, Cutaneous photosensitivity, Hypogonadism, Short nose, Dry skin	OMIM:601675
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Elevated hemoglobin A1c	ORPHA:79134
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin...	OMIM:610188
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hydrocele testis, Nephroblasto...	ORPHA:276280
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Slender long bone, Malar flattening, Short nose	OMIM:618590
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Spontaneous pneumothor...	OMIM:606721
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Multicystic kidney dysplasia, Hepatomegaly, Crossed fused renal ...	ORPHA:2538
Cholestasis, Progressive Familial Intrahepatic, 6	Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Unilateral Polymicrogyria	Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke	ORPHA:268943
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly...	ORPHA:158687
Jaberi-Elahi Syndrome	Hand clenching, Short nose, Depressed nasal bridge, Talipes equinovarus	OMIM:617988
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Proteasome-Associated Autoinflammatory Syndrome 1	Progeroid facial appearance, Microcytic anemia, Splenomegaly, Congestive heart failure, Erythema,...	OMIM:256040
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Palmar pits, Cardiac fibroma, Polydactyly, Short nose	ORPHA:77301
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis...	ORPHA:99880
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia, Enuresis nocturna	ORPHA:420741
Xylt1-Cdg	Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly...	ORPHA:370930
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Micrognathia, Cryptorchi...	OMIM:615948
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Hypoplastic pulmonary veins, Bo...	OMIM:610682
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Eisenmenger Syndrome	Abnormal bleeding, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypoc...	ORPHA:97214
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose	OMIM:300749
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Underdeveloped nasal...	OMIM:618332
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis...	ORPHA:143
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral ar...	ORPHA:286
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Overlapping toe, Micrognathia, Broad nasal tip, Cryptorchidism, Bulbous n...	OMIM:309590
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Pineal cyst, Cardiomyopathy, Abnormal circulating creatine ki...	ORPHA:98908
Occipital Horn Syndrome	Short humerus, Redundant skin, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu va...	OMIM:304150
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio...	ORPHA:79093
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ...	OMIM:112250
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Short femur, Ventricular septal defect, Genu valgum	OMIM:617798
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Cryptorchidism, Wid...	OMIM:300000
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Distal Deletion 9P	Short nose, Wide nasal bridge, Brachydactyly	ORPHA:1642
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla...	OMIM:305100
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Avascular necrosis of the capital femoral epiphysis, Abnormal circulating osteocalcin level, Genu...	ORPHA:93315
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Glycerol Kinase Deficiency	Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crea...	OMIM:619475
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, Metap...	ORPHA:99646
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Thyroiditis, ...	ORPHA:83471
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Choanal atresia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:228426
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Renal Agenesis	Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
D-Bifunctional Protein Deficiency	Splenomegaly, Hepatomegaly, Decreased muscle mass, Renal cyst	OMIM:261515
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Asplenia, Single naris, Peripheral pulmonary vessel aplasia, Pulmo...	OMIM:273395
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi...	ORPHA:2719
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Single transverse palmar crease, Ventricular septal hypertrophy, Small...	OMIM:614947
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th...	ORPHA:261112
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Camptodactyly of 2nd-5...	OMIM:601803
Roberts Syndrome	Premature birth, Polyhydramnios, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombo...	ORPHA:3103
Thymic Carcinoma	Abnormal vena cava morphology, Palpebral edema, Edema	ORPHA:99868
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Atrial septal defect, Accessory spleen, Pseudoepip...	OMIM:194190
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin...	ORPHA:2169
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret...	ORPHA:139417
Loeys-Dietz Syndrome 6	Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a...	OMIM:619656
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Situs inve...	ORPHA:564
Insulin-Resistance Syndrome Type B	Proteinuria, Leukopenia, Glycosuria, Nephritis, Thrombocytopenia	ORPHA:2298
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, C...	ORPHA:96149
Thoracic Outlet Syndrome	Varicose veins, Edema	ORPHA:97330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Depressed nasal bridge, Transient ischemic attack, ...	ORPHA:500150
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Fibular Hemimelia	Renal dysplasia, Thrombocytopenia	ORPHA:93323
Microphthalmia, Syndromic 3	Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Missing ...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia...	OMIM:615287
C Syndrome	Toe syndactyly, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, Micromeli...	ORPHA:1308
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Abnorma...	ORPHA:141099
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth...	ORPHA:857
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal cortical cysts, A...	ORPHA:397715
Autosomal Recessive Spastic Paraplegia Type 20	Abnormality of the hand, Prominent nose, Abnormal thumb morphology, Abnormal hand morphology, Gen...	ORPHA:101000
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Postaxial hand polyda...	OMIM:605627
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Short fi...	ORPHA:1934
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Biliary hyperplasia, Abnormal circulat...	ORPHA:567983
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Ascites, Thrombocytopenia	OMIM:301072
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp...	OMIM:618143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious...	ORPHA:438213
Meningioma	Syncope, Urinary incontinence, Cerebral hemorrhage	ORPHA:2495
Peters-Plus Syndrome	Bilobate gallbladder, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, L...	OMIM:261540
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Facial edema, Xerostomia, Tubulointerstitial nephritis, Thrombocytopenia	ORPHA:79078
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613091
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia, Short nose, R...	OMIM:619426
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Varicose veins, Spastic/hyperactive bladder	ORPHA:100991
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Micrognathia, Abnormal tibia morphology, Abnormal heart mor...	ORPHA:363700
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia, Depressed nasal ridge	ORPHA:2203
Liposarcoma	Varicose veins, Abnormality of the kidney	ORPHA:69078
Caroli Disease	Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Portal hypertension	ORPHA:53035
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Brittle Cornea Syndrome 2	Bruising susceptibility	OMIM:614170
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares, Brachydactyly, Short palm	ORPHA:3339
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Uni...	OMIM:308205
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Abnormal morphology of ulna, Carious tee...	ORPHA:93
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Hypertension, H...	ORPHA:2750
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ...	OMIM:610828
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydrop...	ORPHA:93271
15q26 overgrowth syndrome	Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Horseshoe kidney, Duplication...	DECIPHER:81
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Depressed nasal bridg...	OMIM:614188
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Cryptorchidism, Deep palmar crease, Pulmonic stenosis, Atrial septal d...	OMIM:607721
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio...	ORPHA:83454
Acrorenal-Mandibular Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac...	OMIM:200980
Familial Multiple Lipomatosis	Hyperlipidemia, Abnormal tricuspid valve morphology	ORPHA:199276
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Optic nerve hypoplasia, Renal cyst	ORPHA:495875
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, A...	ORPHA:565612
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimula...	ORPHA:3455
Sotos Syndrome	No permanent dentition, Atrial septal defect, Hypothyroidism, Flushing, Cryptorchidism, Patent du...	ORPHA:821
Cerebrofaciothoracic Dysplasia	Wide nose, Short nose	ORPHA:1394
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Tapered finger, Triangular nasal tip, Cry...	OMIM:309580
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia	ORPHA:506
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Micrognathia, Cryptorchidism, Short nose	OMIM:618820
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ...	OMIM:229400
Clapo Syndrome	Varicose veins, Venous malformation, Lymphedema	ORPHA:168984
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Johanson-Blizzard Syndrome	Diabetes mellitus, Ventricular septal defect, Single transverse palmar crease, Underdeveloped nas...	OMIM:243800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Phosphoribosylpyrophosphate Synthetase Superactivity	Cryptorchidism, Short nose, Depressed nasal bridge, Convex nasal ridge	OMIM:300661
Pmm2-Cdg	Pericarditis, Angina pectoris, Proteinuria, Lymphedema, Pericardial effusion, Intracranial hemorr...	ORPHA:79318
Peroxisome Biogenesis Disorder 4B	Short nose, Adrenal insufficiency, Single transverse palmar crease	OMIM:614863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Diastasis recti, Renal cortical cysts	OMIM:618548
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
3Mc Syndrome 3	Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis	OMIM:248340
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Renal agenesis, Cryptorchidism, Elbow flexion contracture, Renal cyst,...	OMIM:113620
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose	OMIM:252160
Varicose Veins	Varicose veins	OMIM:192200
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Ventricular septal defect, Tibial bowing	OMIM:259770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Leukocytosis, Genu valgum, Hypoplasia of the ovary, Short nose, Convex...	OMIM:619321
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism,...	ORPHA:2052
Periventricular Nodular Heterotopia 9	Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th finger, Prominent finger...	OMIM:618918
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Clinodactyly, Micrognathia	ORPHA:75857
Microphthalmia, Syndromic 1	Syndactyly, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Crypt...	OMIM:309800
Alström Syndrome	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth h...	ORPHA:64
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Arterial dissection, Arrhythmi...	ORPHA:285
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Kosaki Overgrowth Syndrome	Fragile skin, Depressed nasal bridge, Wide nasal bridge	OMIM:616592
Infantile Myofibromatosis	Abnormality of the kidney, Skin ulcer	ORPHA:2591
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Basal Ganglia Calcification, Idiopathic, 4		OMIM:615007
Myofibromatosis, Infantile, 1		OMIM:228550

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pdgfrb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pdgfrb.

No publications found that use IMPC mice or data for Pdgfrb.

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MGI Allele	Allele Type	Produced
Pdgfrb^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pdgfrb^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pdgfrb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdgfrb^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pdgfrb^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pdgfrb MGI:97531

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

Embryo LacZ

X-ray

MicroCT E14.5-E15.5

X-ray

MicroCT E18.5

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Pdgfrb mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data